Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ADAM7	8756	broad.mit.edu	37	8	24346676	24346676	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr8:24346676C>T	ENST00000175238.6	+	12	1179	c.1096C>T	c.(1096-1098)Cct>Tct	p.P366S	ADAM7_ENST00000380789.1_Missense_Mutation_p.P366S|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000520720.1_Missense_Mutation_p.P138S|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	366	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		CTCTAGCATTCCTGCACTGAA	0.348000													31	42					0	0	0.00058488	0	0
MYLK	4638	broad.mit.edu	37	3	123368037	123368037	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr3:123368037C>T	ENST00000360772.3	-	26	4671	c.4293G>A	c.(4291-4293)ccG>ccA	p.P1431P	MYLK_ENST00000475616.1_Silent_p.P1431P|MYLK_ENST00000359169.1_Silent_p.P1431P|MYLK_ENST00000360304.3_Silent_p.P1431P|MYLK_ENST00000354792.5_Silent_p.P231P|MYLK_ENST00000346322.5_Silent_p.P1362P			Q15746	MYLK_HUMAN	myosin light chain kinase	1431	Actin-binding (calcium/calmodulin- insensitive) (By similarity).				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CTTCATCCTTCGGCTCTGGGG	0.612000													38	9					0	0	0.00170553	0	0
FAM49A	81553	broad.mit.edu	37	2	16743311	16743311	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:16743311C>T	ENST00000381323.3	-	6	617	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K	FAM49A_ENST00000355549.2_Missense_Mutation_p.E133K|FAM49A_ENST00000406434.1_Missense_Mutation_p.E133K	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	133						intracellular				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			TGTAAAATTTCGGCAAACTCC	0.423000													19	27					0	0	0.00074312	0	0
MMP17	4326	broad.mit.edu	37	12	132325221	132325221	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:132325221C>T	ENST00000360564.1	+	4	628	c.526C>T	c.(526-528)Cac>Tac	p.H176Y	MMP17_ENST00000535291.1_Missense_Mutation_p.H92Y	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	176					proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)		CCTGAACTTCCACGAGGTGGC	0.667000													16	57					0	0	0.000958276	0	0
ACSS3	79611	broad.mit.edu	37	12	81568698	81568698	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:81568698G>A	ENST00000548058.1	+	8	2140	c.1230G>A	c.(1228-1230)ggG>ggA	p.G410G	ACSS3_ENST00000261206.3_Silent_p.G409G|ACSS3_ENST00000548324.1_Silent_p.G92G			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	410						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						CAGCTTTGGGGAAGCAGTACT	0.448000													17	48					0	0	0.00121646	0	0
EIF5	1983	broad.mit.edu	37	14	103805576	103805576	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr14:103805576A>G	ENST00000216554.3	+	9	1488	c.812A>G	c.(811-813)gAt>gGt	p.D271G	EIF5_ENST00000392715.2_Missense_Mutation_p.D271G|EIF5_ENST00000558506.1_Missense_Mutation_p.D271G	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	271	W2.				regulation of translational initiation|RNA metabolic process	cytosol	GTP binding|GTPase activity|translation initiation factor activity			breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			GAAAGACTGGATGTAAAAGCC	0.378000													31	47					0	0	0.00127121	0	0
CHRM3	1131	broad.mit.edu	37	1	240072373	240072373	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:240072373C>T	ENST00000255380.4	+	5	2401	c.1622C>T	c.(1621-1623)cCc>cTc	p.P541L		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	541					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	ACCGTGAACCCCGTGTGCTAT	0.483000													64	11					0	0	0.000781405	0	0
OR2M2	391194	broad.mit.edu	37	1	248343953	248343953	+	Silent	SNP	T	T	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:248343953T>C	ENST00000359682.2	+	1	666	c.666T>C	c.(664-666)atT>atC	p.I222I		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CTCGAGTTATTCTGGCTGTCA	0.438000													11	443					0	0	0.00244969	0	0
EXO1	9156	broad.mit.edu	37	1	242042408	242042408	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:242042408C>T	ENST00000366548.3	+	13	2465	c.1872C>T	c.(1870-1872)ccC>ccT	p.P624P	EXO1_ENST00000348581.5_Silent_p.P624P|EXO1_ENST00000518483.1_Silent_p.P624P	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	624	Interaction with MSH2.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			CGCCGAGCCCCTCTCCAAGCA	0.473000								Editing and processing nucleases					99	11					0	0	0.000781405	0	0
ZNHIT1	10467	broad.mit.edu	37	7	100866992	100866992	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:100866992C>T	ENST00000305105.2	+	4	840	c.312C>T	c.(310-312)gcC>gcT	p.A104A	ZNHIT1_ENST00000492315.1_3'UTR	NM_006349.2	NP_006340.1	O43257	ZNHI1_HUMAN	zinc finger, HIT-type containing 1	104							metal ion binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)	11	Lung NSC(181;0.168)|all_lung(186;0.215)					ACCTGACGGCCTGTGCGGGAC	0.667000													34	33					0	0	0.00283554	0	0
RXFP1	59350	broad.mit.edu	37	4	159560473	159560473	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr4:159560473C>T	ENST00000307765.5	+	14	1356	c.1105C>T	c.(1105-1107)Ctc>Ttc	p.L369F	RXFP1_ENST00000448688.2_Missense_Mutation_p.L264F|RXFP1_ENST00000470033.1_Missense_Mutation_p.L336F|RXFP1_ENST00000460056.2_Missense_Mutation_p.L288F|RXFP1_ENST00000343542.5_Missense_Mutation_p.L321F	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	369						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		TCTTATGAATCTCTCTCACAT	0.274000													23	46					0	0	0.00278032	0	0
GLCE	26035	broad.mit.edu	37	15	69560974	69560974	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr15:69560974C>T	ENST00000261858.2	+	5	1473	c.1245C>T	c.(1243-1245)aaC>aaT	p.N415N	GLCE_ENST00000559420.2_Silent_p.N351N|GLCE_ENST00000559500.1_3'UTR	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN	glucuronic acid epimerase	415					heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						TAGTAAGGAACCAGGATGAGA	0.493000													26	76					0	0	0.000720815	0	0
MIB1	57534	broad.mit.edu	37	18	19424141	19424141	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr18:19424141C>T	ENST00000261537.6	+	15	2402	c.2138C>T	c.(2137-2139)tCt>tTt	p.S713F	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	713					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			CACACTTTGTCTCAGCTACGT	0.463000													45	57					0	0	0.000781405	0	0
PCDHGB4	8641	broad.mit.edu	37	5	140769536	140769536	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr5:140769536C>T	ENST00000519479.1	+	1	2085	c.2085C>T	c.(2083-2085)gcC>gcT	p.A695A	PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCCTTGGCCTTGATCTCAG	0.632000													29	131					0	0	0.00106085	0	0
ANO2	57101	broad.mit.edu	37	12	5941659	5941659	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:5941659C>T	ENST00000356134.5	-	6	806	c.735G>A	c.(733-735)atG>atA	p.M245I	ANO2_ENST00000327087.8_Missense_Mutation_p.M244I|ANO2_ENST00000546188.1_Missense_Mutation_p.M245I	NM_001278596.1|NM_001278597.1	NP_001265525.1|NP_001265526.1	Q9NQ90	ANO2_HUMAN	anoctamin 2	249						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						AGAGGTTTTTCATCTTGTTGT	0.502000													39	35					0	0	0.0025221	0	0
TTC31	64427	broad.mit.edu	37	2	74719533	74719533	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:74719533G>A	ENST00000233623.5	+	11	1129	c.1122G>A	c.(1120-1122)cgG>cgA	p.R374R	TTC31_ENST00000410003.1_3'UTR|TTC31_ENST00000442235.2_Intron	NM_022492.4	NP_071937.4	Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31	374							binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						GCTGGCCCCGGGGCCTCTTCC	0.612000													18	30					0	0	0.00121646	0	0
PADI4	23569	broad.mit.edu	37	1	17682881	17682881	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:17682881G>A	ENST00000375448.4	+	13	1511	c.1485G>A	c.(1483-1485)agG>agA	p.R495R	PADI4_ENST00000487048.1_3'UTR	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	495					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	CCAGCCCCAGGTCCTGCTACA	0.607000													11	7					0	0	0.000673444	0	0
RUNDC3B	154661	broad.mit.edu	37	7	87399955	87399955	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:87399955G>A	ENST00000338056.3	+	8	1150	c.739G>A	c.(739-741)Gaa>Aaa	p.E247K	RUNDC3B_ENST00000394654.3_Missense_Mutation_p.E230K|RUNDC3B_ENST00000496000.1_3'UTR|RUNDC3B_ENST00000493037.1_Missense_Mutation_p.E230K	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	247								p.E247K(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					CAGTGGTAGCGAAAGCAGTAC	0.398000													25	15					0	0	0.00278032	0	0
ROBO1	6091	broad.mit.edu	37	3	78667155	78667155	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr3:78667155C>T	ENST00000436010.2	-	25	4792	c.3795G>A	c.(3793-3795)ccG>ccA	p.P1265P	ROBO1_ENST00000464233.1_Silent_p.P1304P|ROBO1_ENST00000467549.1_Silent_p.P1204P|ROBO1_ENST00000495273.1_Silent_p.P1259P			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1304					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GAGGGGAGATCGGCCGTGGTG	0.493000													50	10					0	0	0.000781405	0	0
KCNA1	3736	broad.mit.edu	37	12	5021551	5021551	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:5021551G>A	ENST00000382545.3	+	2	2114	c.1007G>A	c.(1006-1008)gGg>gAg	p.G336E	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)	336					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	p.G336V(1)		NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CTCTTCATCGGGGTCATCCTG	0.552000													23	56					0	0	0.00188189	0	0
ITGA4	3676	broad.mit.edu	37	2	182392032	182392032	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:182392032A>G	ENST00000397033.2	+	22	2778	c.2348A>G	c.(2347-2349)aAc>aGc	p.N783S		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	783					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	AGGTTTGTAAACCCAACTTCA	0.299000													6	26					0	0	0.00116845	0	0
UGT2B10	7365	broad.mit.edu	37	4	69681930	69681930	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr4:69681930C>T	ENST00000265403.7	+	1	220	c.193C>T	c.(193-195)Ccc>Tcc	p.P65S	UGT2B10_ENST00000458688.2_Missense_Mutation_p.P65S	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	65					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TCTTTTTGATCCCAACGACTC	0.368000													48	83					0	0	0.000781405	0	0
CAV1	857	broad.mit.edu	37	7	116166591	116166591	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:116166591A>G	ENST00000341049.2	+	2	321	c.43A>G	c.(43-45)Acc>Gcc	p.T15A	CAV1_ENST00000393468.1_5'UTR|CAV1_ENST00000393470.1_Intron|CAV1_ENST00000393467.1_5'UTR|CAV1_ENST00000405348.1_5'UTR	NM_001753.4	NP_001744.2	Q03135	CAV1_HUMAN	caveolin 1, caveolae protein, 22kDa	15					blood coagulation|calcium ion transport|caveola assembly|cellular response to starvation|cholesterol homeostasis|cytosolic calcium ion homeostasis|inactivation of MAPK activity|interspecies interaction between organisms|leukocyte migration|lipid storage|maintenance of protein location in cell|mammary gland involution|membrane depolarization|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of endothelial cell proliferation|negative regulation of epithelial cell differentiation|negative regulation of nitric oxide biosynthetic process|negative regulation of peptidyl-serine phosphorylation|negative regulation of protein binding|negative regulation of transcription from RNA polymerase II promoter|nitric oxide homeostasis|nitric oxide metabolic process|positive regulation of calcium ion transport into cytosol|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of metalloenzyme activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of vasoconstriction|protein homooligomerization|receptor internalization|regulation of blood coagulation|regulation of fatty acid metabolic process|regulation of nitric-oxide synthase activity|regulation of smooth muscle contraction|response to calcium ion|response to estrogen stimulus|response to hypoxia|response to progesterone stimulus|skeletal muscle tissue development|T cell costimulation|triglyceride metabolic process|vasculogenesis|vesicle organization	apical plasma membrane|basolateral plasma membrane|caveola|cytosol|endoplasmic reticulum|endosome|Golgi membrane|lipid particle|perinuclear region of cytoplasm	cholesterol binding|nitric-oxide synthase binding|peptidase activator activity|protein binding|protein complex scaffold|receptor binding			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4	all_epithelial(6;1.42e-06)|Lung NSC(10;0.0056)|all_lung(10;0.00609)		STAD - Stomach adenocarcinoma(10;0.00878)			ACATCTCTACACCGTTCCCAT	0.592000											OREG0018273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	29					0	0	0.00209593	0	0
MCM4	4173	broad.mit.edu	37	8	48883220	48883220	+	Silent	SNP	C	C	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr8:48883220C>A	ENST00000262105.2	+	11	1793	c.1584C>A	c.(1582-1584)ccC>ccA	p.P528P	MCM4_ENST00000523944.1_Silent_p.P528P|MCM4_ENST00000518680.1_3'UTR	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	528	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				ACCTCGTCCCCAGGGGCCAGT	0.582000													22	30					5.45024e-15	2.39889e-14	0.00047179	1	0
MAP7D1	55700	broad.mit.edu	37	1	36643604	36643604	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:36643604C>T	ENST00000316156.4	+	8	1852	c.1399C>T	c.(1399-1401)Ccc>Tcc	p.P467S	MAP7D1_ENST00000373148.4_Missense_Mutation_p.P50S|MAP7D1_ENST00000373150.4_Missense_Mutation_p.P472S|MAP7D1_ENST00000373151.2_Missense_Mutation_p.P504S			Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	504	Pro-rich.					cytoplasm|spindle				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				CACTGCATCCCCCAAGGGGCG	0.692000													6	14					0	0	0.00116845	0	0
DZANK1	55184	broad.mit.edu	37	20	18365132	18365132	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr20:18365132G>A	ENST00000357236.4	-	22	2487	c.1828C>T	c.(1828-1830)Ctt>Ttt	p.L610F	DZANK1_ENST00000487128.1_5'UTR|DZANK1_ENST00000262547.5_Missense_Mutation_p.L724F|DZANK1_ENST00000329494.5_Missense_Mutation_p.L702F|DZANK1_ENST00000377630.5_Missense_Mutation_p.L557F			Q9NVP4	CT012_HUMAN	double zinc ribbon and ankyrin repeat domains 1	551						intracellular	zinc ion binding			NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						GAGGTGACAAGGTCATCTCCA	0.522000													12	14					0	0	0.00136819	0	0
SPINT1	6692	broad.mit.edu	37	15	41146000	41146000	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr15:41146000C>T	ENST00000344051.4	+	5	1068	c.834C>T	c.(832-834)ttC>ttT	p.F278F	SPINT1_ENST00000431806.1_Silent_p.F278F|SPINT1_ENST00000562057.1_Silent_p.F278F			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	278	BPTI/Kunitz inhibitor 1.					extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		GCAAGAGTTTCGTTTATGGAG	0.572000													47	86					0	0	0.000680045	0	0
UGT2A1	10941	broad.mit.edu	37	4	70455305	70455305	+	Nonsense_Mutation	SNP	G	G	A	rs139303872	byFrequency	TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr4:70455305G>A	ENST00000503640.1	-	6	1424	c.1369C>T	c.(1369-1371)Cga>Tga	p.R457*	UGT2A2_ENST00000457664.2_Nonsense_Mutation_p.R466*|UGT2A1_ENST00000512704.1_Nonsense_Mutation_p.R413*|UGT2A1_ENST00000514019.1_Nonsense_Mutation_p.R623*|UGT2A1_ENST00000286604.4_Nonsense_Mutation_p.R457*	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	457					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity	p.R457*(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						AAGACTGCTCGATCCAGGGGC	0.448000													61	74					0	0	0.000781405	0	0
DLL3	10683	broad.mit.edu	37	19	39994845	39994845	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:39994845C>T	ENST00000205143.4	+	5	794	c.787C>T	c.(787-789)Ccg>Tcg	p.P263S	DLL3_ENST00000356433.5_Missense_Mutation_p.P263S	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	delta-like 3 (Drosophila)	263					Notch signaling pathway|skeletal system development	integral to membrane	Notch binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCCCAGGGGCCCGTCCTCTGC	0.652000													10	31					0	0	0.000978159	0	0
LRRC8A	56262	broad.mit.edu	37	9	131669831	131669831	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr9:131669831C>T	ENST00000259324.5	+	3	911	c.388C>T	c.(388-390)Ctt>Ttt	p.L130F	LRRC8A_ENST00000372599.3_Missense_Mutation_p.L130F|LRRC8A_ENST00000372600.4_Missense_Mutation_p.L130F	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	130					pre-B cell differentiation	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						CTACCTGGTGCTTCTGCACAC	0.542000													16	43					0	0	0.000566183	0	0
SEL1L3	23231	broad.mit.edu	37	4	25806174	25806174	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr4:25806174C>T	ENST00000399878.3	-	10	1887	c.1765G>A	c.(1765-1767)Gat>Aat	p.D589N	SEL1L3_ENST00000264868.5_Missense_Mutation_p.D554N|SEL1L3_ENST00000502949.1_Missense_Mutation_p.D436N	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	589						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						TGCAGCTGATCCCGAGGAACA	0.448000													8	16					0	0	0.000157383	0	0
GRIN2B	2904	broad.mit.edu	37	12	13906626	13906626	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:13906626C>T	ENST00000279593.3	-	3	844	c.635G>A	c.(634-636)gGa>gAa	p.G212E		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	212					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CTTAGAATCTCCATCGTCCAG	0.473000													47	43					0	0	0.000781405	0	0
ZNF638	27332	broad.mit.edu	37	2	71592694	71592694	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:71592694C>T	ENST00000409544.1	+	6	2483	c.1853C>T	c.(1852-1854)cCa>cTa	p.P618L	ZNF638_ENST00000355812.3_Missense_Mutation_p.P618L|ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000377802.2_Missense_Mutation_p.P618L|ZNF638_ENST00000264447.4_Missense_Mutation_p.P618L	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	618					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						GGAACAAAACCATCAGTTAAA	0.388000													7	12					0	0	0.000157383	0	0
HMGB4	127540	broad.mit.edu	37	1	34330176	34330176	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:34330176G>A	ENST00000522796.1	+	4	2289	c.384G>A	c.(382-384)ggG>ggA	p.G128G	CSMD2_ENST00000373381.4_Intron|HMGB4_ENST00000519684.1_Silent_p.G128G|HMGB4_ENST00000425537.1_3'UTR			B2R4X7	B2R4X7_HUMAN	high mobility group box 4	128						nucleus	DNA binding			NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AGGCCACAGGGAAGATGTGGT	0.542000													10	43					0	0	0.000673444	0	0
LRRC18	474354	broad.mit.edu	37	10	50121774	50121774	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr10:50121774G>A	ENST00000374160.3	-	1	503	c.427C>T	c.(427-429)Ctg>Ttg	p.L143L	WDFY4_ENST00000413659.2_Intron|WDFY4_ENST00000325239.5_Intron|RP11-523O18.7_ENST00000430438.1_RNA|LRRC18_ENST00000298124.3_Silent_p.L143L	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	143						cytoplasm				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						AGCTCCTTCAGGGCCCCCAGT	0.577000													9	9					0	0	0.000442599	0	0
KCNS2	3788	broad.mit.edu	37	8	99441224	99441224	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr8:99441224G>A	ENST00000287042.4	+	2	1367	c.1017G>A	c.(1015-1017)ggG>ggA	p.G339G	KCNS2_ENST00000521839.1_Silent_p.G339G	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	339						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			TCTCCGTGGGGATTTCCATCT	0.577000													25	39					0	0	0.000720815	0	0
EPO	2056	broad.mit.edu	37	7	100320699	100320699	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:100320699C>T	ENST00000252723.2	+	5	706	c.525C>T	c.(523-525)ttC>ttT	p.F175F		NM_000799.2	NP_000790.2	P01588	EPO_HUMAN	erythropoietin	175					blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction	extracellular space	erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity			central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12	Lung NSC(181;0.041)|all_lung(186;0.0581)				Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	ACTCCAATTTCCTCCGGGGAA	0.572000													94	60					0	0	0.000781405	0	0
IMPA1	3612	broad.mit.edu	37	8	82571616	82571616	+	Silent	SNP	A	A	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr8:82571616A>C	ENST00000256108.5	-	9	1269	c.804T>G	c.(802-804)gtT>gtG	p.V268V	IMPA1_ENST00000311489.4_3'UTR|IMPA1_ENST00000449740.2_Silent_p.V327V	NM_005536.3	NP_005527.1	P29218	IMPA1_HUMAN	inositol(myo)-1(or 4)-monophosphatase 1	268					inositol phosphate dephosphorylation|phosphatidylinositol biosynthetic process|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity			NS(1)|cervix(1)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|stomach(1)	18					Lithium(DB01356)	GCAAAGGTATAACCTGAATTT	0.378000													38	63					0	0	0.00170553	0	0
GRIA1	2890	broad.mit.edu	37	5	153182025	153182025	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr5:153182025C>T	ENST00000285900.5	+	15	2838	c.2495C>T	c.(2494-2496)tCc>tTc	p.S832F	GRIA1_ENST00000518783.1_Missense_Mutation_p.S842F|GRIA1_ENST00000518142.1_Missense_Mutation_p.S752F|GRIA1_ENST00000448073.4_Missense_Mutation_p.S842F|GRIA1_ENST00000521843.2_Missense_Mutation_p.S763F|GRIA1_ENST00000340592.5_Missense_Mutation_p.S832F	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	832					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TGCTACAAATCCCGTAGTGAA	0.532000													47	173					0	0	0.000781405	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102291841	102291841	+	RNA	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr15:102291841C>T	ENST00000561463.1	+	0	607																											CTGGTGGACTCCTACATGGCC	0.547000													12	26					0	0	0.000308642	0	0
KRT8	3856	broad.mit.edu	37	12	53294408	53294408	+	Silent	SNP	G	G	A	rs150187239	byFrequency	TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:53294408G>A	ENST00000552551.1	-	5	1086	c.654C>T	c.(652-654)acC>acT	p.T218T	KRT8_ENST00000552150.1_Silent_p.T246T|KRT8_ENST00000293308.6_Silent_p.T218T|KRT8_ENST00000546897.1_Silent_p.T218T			P05787	K2C8_HUMAN	keratin 8	218	Coil 1B.|Rod.				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGATCTCGTCGGTCAGCCCTT	0.572000													29	50					0	0	0.000692331	0	0
MAGEC3	139081	broad.mit.edu	37	X	140969345	140969345	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chrX:140969345G>A	ENST00000298296.1	+	4	672	c.672G>A	c.(670-672)atG>atA	p.M224I	MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000448920.1_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	224	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					ACTTTCCTATGATCTTCAGGA	0.433000													84	16					0	0	0.000781405	0	0
SREK1	140890	broad.mit.edu	37	5	65466563	65466563	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr5:65466563C>G	ENST00000334121.6	+	9	1431	c.1272C>G	c.(1270-1272)gaC>gaG	p.D424E	SREK1_ENST00000380918.3_Missense_Mutation_p.D308E|SREK1_ENST00000284041.3_3'UTR	NM_001077199.2|NM_001270492.1	NP_001070667.1|NP_001257421.1	Q8WXA9	SREK1_HUMAN	splicing regulatory glutamine/lysine-rich protein 1	308	Arg/Glu/Lys/Ser-rich.				mRNA processing|RNA splicing	spliceosomal complex	nucleic acid binding|nucleotide binding|protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)	9						GGGAAAAGGACCGggaaaaag	0.448000													12	4					0	0	0.000978159	0	0
VIL1	7429	broad.mit.edu	37	2	219292738	219292738	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:219292738C>T	ENST00000248444.5	+	5	486	c.398C>T	c.(397-399)tCc>tTc	p.S133F	VIL1_ENST00000392114.2_Intron|VIL1_ENST00000440053.1_Missense_Mutation_p.S133F	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	133	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAGACCAACTCCTATGACGTC	0.617000													33	35					0	0	0.00058488	0	0
FLI1	2313	broad.mit.edu	37	11	128680668	128680668	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr11:128680668C>T	ENST00000344954.6	+	9	1433	c.1045C>T	c.(1045-1047)Cct>Tct	p.P349S	FLI1_ENST00000534087.1_Missense_Mutation_p.P349S|FLI1_ENST00000525560.1_Missense_Mutation_p.P189S|FLI1_ENST00000429175.2_Missense_Mutation_p.P382S|FLI1_ENST00000281428.8_Missense_Mutation_p.P316S			Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	382					hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		GTACAAGTACCCTTCTGACAT	0.527000			T	EWSR1	Ewing sarcoma								16	7					0	0	0.000422831	0	0
CEP89	84902	broad.mit.edu	37	19	33444520	33444520	+	Splice_Site	SNP	C	C	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:33444520C>A	ENST00000305768.4	-	4	581		c.e4+1		CEP89_ENST00000590597.1_Splice_Site	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa							centrosome|spindle pole				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						ATAGAAAACACCTGATTTCTG	0.463000													21	517					1.1804e-14	5.18921e-14	0.000586117	1	0
P2RY4	5030	broad.mit.edu	37	X	69479145	69479145	+	Silent	SNP	G	G	A	rs146718292	byFrequency	TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chrX:69479145G>A	ENST00000374519.2	-	1	509	c.330C>T	c.(328-330)ttC>ttT	p.F110F		NM_002565.3	NP_002556.1	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 4	110					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			cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						GAAAGCGGACGAACTTGCAGA	0.542000													18	5					0	0	0.000958276	0	0
EIF4B	1975	broad.mit.edu	37	12	53421881	53421881	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:53421881C>T	ENST00000262056.9	+	8	1214	c.888C>T	c.(886-888)gaC>gaT	p.D296D	RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000420463.3_Silent_p.D296D|EIF4B_ENST00000416762.3_Silent_p.D257D	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	296	Arg-rich.|Asp-rich.				insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						GAGGCGGGGACCGCTATGAAG	0.493000													40	28					0	0	0.000953801	0	0
MARCO	8685	broad.mit.edu	37	2	119750702	119750702	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:119750702G>A	ENST00000541757.1	+	17	1401	c.1021G>A	c.(1021-1023)Gaa>Aaa	p.E341K	MARCO_ENST00000327097.4_Missense_Mutation_p.E419K			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	419	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			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						TCACCCAGGTGAAAACTCAGT	0.517000													20	34					0	0	0.00152264	0	0
FRS3	10817	broad.mit.edu	37	6	41740577	41740577	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr6:41740577G>A	ENST00000373018.3	-	5	625	c.374C>T	c.(373-375)cCc>cTc	p.P125L	FRS3_ENST00000259748.2_Missense_Mutation_p.P125L	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	125					fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			AAGCTCAGCGGGGTGGCTATT	0.572000													78	70					0	0	0.000781405	0	0
SUFU	51684	broad.mit.edu	37	10	104264003	104264003	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr10:104264003C>T	ENST00000369902.3	+	1	260	c.94C>T	c.(94-96)Ccg>Tcg	p.P32S	SUFU_ENST00000369899.2_Missense_Mutation_p.P32S|SUFU_ENST00000423559.2_Missense_Mutation_p.P32S	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	32					negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		GCTCTTTCCCCCGGGACTGCA	0.716000			"""D, F, S"""		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation				8	4					0	0	0.000157383	0	0
A2ML1	144568	broad.mit.edu	37	12	8982345	8982345	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:8982345G>A	ENST00000299698.7	+	4	612	c.432G>A	c.(430-432)atG>atA	p.M144I	A2ML1-AS1_ENST00000537288.1_RNA	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	0						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TTGTCACCATGGATAGCAACT	0.438000													23	66					0	0	0.000720815	0	0
FMN2	56776	broad.mit.edu	37	1	240341305	240341305	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:240341305C>T	ENST00000319653.9	+	3	2097	c.1867C>T	c.(1867-1869)Cca>Tca	p.P623S	RP11-567G24.3_ENST00000444308.1_RNA|RP11-567G24.3_ENST00000412311.1_RNA	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	623					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TAGGCGAGTTCCATCCATGGG	0.458000													65	11					0	0	0.000781405	0	0
MYH4	4622	broad.mit.edu	37	17	10348605	10348605	+	Silent	SNP	G	G	A	rs149221663		TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr17:10348605G>A	ENST00000255381.2	-	36	5354	c.5244C>T	c.(5242-5244)atC>atT	p.I1748I	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1748					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTTCCTGGACGATGTCCTCCA	0.468000													31	103					0	0	0.0024448	0	0
DSP	1832	broad.mit.edu	37	6	7583514	7583514	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr6:7583514G>A	ENST00000379802.3	+	24	6360	c.6019G>A	c.(6019-6021)Gaa>Aaa	p.E2007K	DSP_ENST00000418664.2_Missense_Mutation_p.E1408K	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2007	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AGTTGCTTCTGAAATCCAGCC	0.448000													66	37					0	0	0.000781405	0	0
BCAM	4059	broad.mit.edu	37	19	45315444	45315444	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:45315444C>T	ENST00000391955.1	+	3	273	c.229C>T	c.(229-231)Cgc>Tgc	p.R77C	BCAM_ENST00000270233.6_Missense_Mutation_p.R77C			P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	77	Ig-like V-type 1.		R -> H (defines the Lu(a) antigen; dbSNP:rs28399653).		cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				AGCTCGCCCCCGCCTAGCCTC	0.687000													32	32					0	0	0.00178596	0	0
NLK	51701	broad.mit.edu	37	17	26488234	26488234	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr17:26488234C>T	ENST00000407008.3	+	4	1411	c.693C>T	c.(691-693)gtC>gtT	p.V231V		NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN	nemo-like kinase	231	Protein kinase.				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			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)		AAATTATCGTCTCTCCTCAAC	0.393000													28	28					0	0	0.00178596	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79082136	79082136	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr15:79082136C>T	ENST00000388820.4	-	7	1283	c.1073G>A	c.(1072-1074)gGa>gAa	p.G358E	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	358	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						ATGGGACAGTCCCAGGGTCTC	0.652000													9	5					0	0	0.000673444	0	0
EVPL	2125	broad.mit.edu	37	17	74005667	74005667	+	Missense_Mutation	SNP	C	C	T	rs147527679		TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr17:74005667C>T	ENST00000301607.3	-	22	3872	c.3619G>A	c.(3619-3621)Gag>Aag	p.E1207K	EVPL_ENST00000586740.1_Missense_Mutation_p.E1229K	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1207	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						ATCTCCTGCTCTGTCTCCGGA	0.622000													17	65					0	0	0.000566183	0	0
GLT6D1	360203	broad.mit.edu	37	9	138516118	138516118	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr9:138516118G>A	ENST00000371763.1	-	5	909	c.656C>T	c.(655-657)cCg>cTg	p.P219L		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	219			P -> S (in dbSNP:rs17040344).		carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups			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)		CTGTCCAAACGGGATGCAAGC	0.488000													21	60					0	0	0.000586117	0	0
COL22A1	169044	broad.mit.edu	37	8	139668175	139668175	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr8:139668175G>C	ENST00000303045.6	-	45	3744	c.3298C>G	c.(3298-3300)Cta>Gta	p.L1100V	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.L1080V	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1100	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGAGACAGTAGTGAAGAGAGG	0.383000										HNSCC(7;0.00092)			44	394					0	0	0.00285205	0	0
RNASEL	6041	broad.mit.edu	37	1	182551309	182551309	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:182551309C>T	ENST00000367559.3	-	4	1904	c.1651G>A	c.(1651-1653)Gtt>Att	p.V551I	RNASEL_ENST00000444138.1_Missense_Mutation_p.V551I|RNASEL_ENST00000539397.1_Missense_Mutation_p.V551I	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	551	Protein kinase.				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						gaaagttgaaccaCCTCTTCA	0.483000													25	179					0	0	0.00106085	0	0
AGT	183	broad.mit.edu	37	1	230841909	230841909	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:230841909C>T	ENST00000366667.4	-	3	1108	c.894G>A	c.(892-894)caG>caA	p.Q298Q		NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	298					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	CCCAGAACTCCTGGGGCTCGG	0.582000													18	48					0	0	0.000958276	0	0
PCDHA1	56147	broad.mit.edu	37	5	140166773	140166773	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr5:140166773G>A	ENST00000504120.2	+	1	898	c.898G>A	c.(898-900)Gga>Aga	p.G300R	PCDHA1_ENST00000378133.3_Missense_Mutation_p.G300R|PCDHA1_ENST00000394633.3_Missense_Mutation_p.G300R	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCCAGCTCAGGAGAAATTAG	0.368000													56	50					0	0	0.000781405	0	0
CHRND	1144	broad.mit.edu	37	2	233398938	233398938	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:233398938G>A	ENST00000258385.3	+	11	1289	c.1257G>A	c.(1255-1257)cgG>cgA	p.R419R	CHRND_ENST00000543200.1_Silent_p.R404R|CHRND_ENST00000457943.2_Silent_p.R225R	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	419					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		CTGTAGGCCGGCCCCCAGCAA	0.607000													31	25					0	0	0.001512	0	0
STON2	85439	broad.mit.edu	37	14	81743687	81743687	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr14:81743687G>A	ENST00000555447.1	-	6	2380	c.1968C>T	c.(1966-1968)ttC>ttT	p.F656F	STON2_ENST00000267540.2_Silent_p.F656F	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	656	MHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		GTGAGTTGTGGAAAACATCCT	0.498000													5	22					0	0	0.00198382	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33956987	33956987	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:33956987C>T	ENST00000361328.3	+	6	1282	c.1129C>T	c.(1129-1131)Cgc>Tgc	p.R377C	ZSCAN20_ENST00000373413.2_Missense_Mutation_p.R323C	NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	377					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGAGCAATGTCGCTATAGGGT	0.572000													46	55					0	0	0.000781405	0	0
ACTL9	284382	broad.mit.edu	37	19	8808716	8808716	+	Silent	SNP	T	T	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:8808716T>C	ENST00000324436.3	-	1	456	c.336A>G	c.(334-336)caA>caG	p.Q112Q		NM_178525.3	NP_848620.2	Q8TC94	ACTL9_HUMAN	actin-like 9	112						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						TGCGCAGGGGTTGCACCAGCG	0.706000													9	21					0	0	0.000274275	0	0
C9orf139	401563	broad.mit.edu	37	9	139929162	139929162	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr9:139929162C>T	ENST00000314330.2	+	3	1743	c.229C>T	c.(229-231)Cct>Tct	p.P77S		NM_207511.1	NP_997394.1	Q6ZV77	CI139_HUMAN	chromosome 9 open reading frame 139	77										cervix(1)|lung(2)	3	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493)		GGTGACCCGGCCTCTGGTGCC	0.657000													12	49					0	0	0.000978159	0	0
SPTB	6710	broad.mit.edu	37	14	65262067	65262067	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr14:65262067C>T	ENST00000389722.3	-	11	1685	c.1632G>A	c.(1630-1632)atG>atA	p.M544I	SPTB_ENST00000389721.5_Missense_Mutation_p.M544I|SPTB_ENST00000542895.1_Missense_Mutation_p.M544I|SPTB_ENST00000389720.3_Missense_Mutation_p.M544I|SPTB_ENST00000556626.1_Missense_Mutation_p.M544I	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	544					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGATCTCATCCATCCAGTCGA	0.632000													4	18					0	0	0.00116845	0	0
GCNT3	9245	broad.mit.edu	37	15	59911631	59911631	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr15:59911631G>A	ENST00000396065.1	+	3	1642	c.1194G>A	c.(1192-1194)ttG>ttA	p.L398L	GCNT3_ENST00000560585.1_Silent_p.L398L	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin type	398					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			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTGGGGACTTGAATTGGATGC	0.488000													34	118					0	0	0.00111076	0	0
PLVAP	83483	broad.mit.edu	37	19	17476173	17476173	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:17476173C>T	ENST00000252590.4	-	3	1162	c.1101G>A	c.(1099-1101)gaG>gaA	p.E367E		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	367						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCCTCTTCTTCTCTTCCAGCT	0.617000													23	65					0	0	0.000720815	0	0
POU2F2	5452	broad.mit.edu	37	19	42621408	42621408	+	Silent	SNP	T	T	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:42621408T>A	ENST00000389341.5	-	5	363	c.297A>T	c.(295-297)ctA>ctT	p.L99L	POU2F2_ENST00000524801.2_5'UTR|POU2F2_ENST00000560558.1_Intron|POU2F2_ENST00000560398.1_Silent_p.L121L|POU2F2_ENST00000533720.1_Silent_p.L99L|POU2F2_ENST00000529952.1_Silent_p.L99L|POU2F2_ENST00000529067.1_Silent_p.L99L|POU2F2_ENST00000342301.4_Silent_p.L99L|POU2F2_ENST00000526816.2_Silent_p.L99L	NM_001207025.2|NM_001247994.1|NM_002698.4	NP_001193954.1|NP_001234923.1|NP_002689.1	P09086	PO2F2_HUMAN	POU class 2 homeobox 2	99					humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				TTACCCCAGCTAGCTGGCTGC	0.622000													15	71					0	0	0.000566183	0	0
ACSS3	79611	broad.mit.edu	37	12	81536990	81536990	+	Silent	SNP	T	T	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:81536990T>C	ENST00000548058.1	+	5	1795	c.885T>C	c.(883-885)taT>taC	p.Y295Y	ACSS3_ENST00000261206.3_Silent_p.Y294Y			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	295						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						ACCCACTGTATATTCTTTACA	0.443000													9	50					0	0	0.000978159	0	0
FRMD6	122786	broad.mit.edu	37	14	52179242	52179242	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr14:52179242G>A	ENST00000395718.2	+	9	1083	c.798G>A	c.(796-798)tgG>tgA	p.W266*	FRMD6_ENST00000356218.4_Nonsense_Mutation_p.W266*|FRMD6_ENST00000554167.1_Nonsense_Mutation_p.W197*|FRMD6_ENST00000344768.5_Nonsense_Mutation_p.W274*	NM_001267046.1|NM_152330.3	NP_001253975.1|NP_689543.1	Q96NE9	FRMD6_HUMAN	FERM domain containing 6	274	FERM.					cytoskeleton|mitochondrion|plasma membrane	binding			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)					ATTTCCCCTGGACAAATGTTG	0.294000													7	24					0	0	0.000442599	0	0
KDR	3791	broad.mit.edu	37	4	55972913	55972913	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr4:55972913C>T	ENST00000263923.4	-	11	1772	c.1477G>A	c.(1477-1479)Gga>Aga	p.G493R		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	493	Ig-like C2-type 5.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TTATTTCCTCCCTGGAAGTCC	0.333000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			34	39					0	0	0.00283554	0	0
RREB1	6239	broad.mit.edu	37	6	7230953	7230953	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr6:7230953C>T	ENST00000379938.2	+	10	3158	c.2621C>T	c.(2620-2622)cCc>cTc	p.P874L	RREB1_ENST00000334984.6_Missense_Mutation_p.P874L|RREB1_ENST00000379933.3_Missense_Mutation_p.P874L|RREB1_ENST00000349384.6_Missense_Mutation_p.P874L	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	874					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CACAGGGGCCCCACCCAGCCT	0.647000													29	20					0	0	0.00178596	0	0
KIAA1755	85449	broad.mit.edu	37	20	36870025	36870025	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr20:36870025C>T	ENST00000279024.4	-	3	779	c.508G>A	c.(508-510)Gaa>Aaa	p.E170K		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	170										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)				ATCCCATTTTCTGATGCTACC	0.532000													54	111					0	0	0.000781405	0	0
NKX2-5	1482	broad.mit.edu	37	5	172659851	172659851	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr5:172659851C>T	ENST00000329198.4	-	2	969	c.696G>A	c.(694-696)ggG>ggA	p.G232G		NM_001166175.1|NM_001166176.1|NM_004387.3	NP_001159647.1|NP_001159648.1|NP_004378.1	P52952	NKX25_HUMAN	NK2 homeobox 5	232	Ala/Pro-rich.				adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|outflow tract septum morphogenesis|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|right ventricular cardiac muscle tissue morphogenesis|septum secundum development|spleen development|thyroid gland development|vasculogenesis|ventricular septum morphogenesis		chromatin binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)	12	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GCGCCGAGTCCCCTAGGCATG	0.721000													8	28					0	0	0.000673444	0	0
C11orf63	79864	broad.mit.edu	37	11	122775096	122775096	+	Missense_Mutation	SNP	A	A	T	rs145494873		TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr11:122775096A>T	ENST00000227349.2	+	3	1105	c.808A>T	c.(808-810)Acg>Tcg	p.T270S	C11orf63_ENST00000531316.1_Missense_Mutation_p.T270S|C11orf63_ENST00000307257.6_Missense_Mutation_p.T270S	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	270										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		CACCCCGAAAACGGACTCTTA	0.433000													144	43					0	0	0.000781405	0	0
IGHV3-48	28424	broad.mit.edu	37	14	106994098	106994098	+	RNA	SNP	G	G	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr14:106994098G>T	ENST00000390624.2	-	0	145																											GACTCCACCAGCTGCACCTCA	0.522000													15	30					2.4624e-09	1.07734e-08	0.00121646	1	0
ZNF408	79797	broad.mit.edu	37	11	46726422	46726422	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr11:46726422G>T	ENST00000311764.2	+	5	1402	c.1172G>T	c.(1171-1173)aGc>aTc	p.S391I		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	391					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AAGAGCTATAGCTCAGAGGAG	0.577000													36	7					1.08052e-11	4.74444e-11	0.000814825	1	0
NOX5	79400	broad.mit.edu	37	15	69329473	69329473	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr15:69329473C>T	ENST00000260364.5	+	9	1541	c.1240C>T	c.(1240-1242)Ctg>Ttg	p.L414L	NOX5_ENST00000530406.2_Silent_p.L404L|NOX5_ENST00000448182.3_Silent_p.L386L|NOX5_ENST00000388866.3_Silent_p.L432L|NOX5_ENST00000455873.3_Silent_p.L397L			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	432	Ferric oxidoreductase.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CTTGTTTTTCCTGGAGAAGGC	0.567000													25	64					0	0	0.00127121	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74876892	74876892	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr11:74876892C>T	ENST00000289575.5	+	4	741	c.346C>T	c.(346-348)Cga>Tga	p.R116*	SLCO2B1_ENST00000525650.1_Intron|SLCO2B1_ENST00000454962.2_5'UTR|SLCO2B1_ENST00000341411.4_5'UTR|SLCO2B1_ENST00000526660.1_Intron|SLCO2B1_ENST00000532236.1_5'UTR|SLCO2B1_ENST00000428359.2_Nonsense_Mutation_p.R94*|SLCO2B1_ENST00000531756.1_Intron	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	116					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	GCACCGACCCCGAATGATTGG	0.572000													71	20					0	0	0.000781405	0	0
ETV3L	440695	broad.mit.edu	37	1	157062654	157062654	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:157062654C>T	ENST00000454449.2	-	5	1157	c.873G>A	c.(871-873)ggG>ggA	p.G291G		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	291						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				CCTGTCCCAGCCCTGCCAAGA	0.632000													11	35					0	0	0.00185496	0	0
OR2L3	391192	broad.mit.edu	37	1	248224303	248224303	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:248224303G>A	ENST00000359959.3	+	1	320	c.320G>A	c.(319-321)gGa>gAa	p.G107E	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TCGGCATTAGGAGGTGCAGAA	0.438000													133	117					0	0	0.000781405	0	0
SDHAP1	255812	broad.mit.edu	37	3	195710993	195710993	+	RNA	SNP	A	A	G	rs4927692	by1000genomes	TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr3:195710993A>G	ENST00000427841.1	-	0	739					NR_003264.2																						CCTCCCGTATAAGGTGTGCAA	0.617000													3	37					0	0	0.000157383	0	0
SEC24A	10802	broad.mit.edu	37	5	134050782	134050782	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr5:134050782C>T	ENST00000398844.2	+	19	3084	c.2796C>T	c.(2794-2796)aaC>aaT	p.N932N		NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	932					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAGTGAAAAACCAGCCCTTGG	0.408000													14	62					0	0	0.00244969	0	0
FARS2	10667	broad.mit.edu	37	6	5368854	5368854	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr6:5368854G>A	ENST00000324331.6	+	2	387	c.51G>A	c.(49-51)gtG>gtA	p.V17V	FARS2_ENST00000274680.4_Silent_p.V17V			O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2, mitochondrial	17					phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding			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)	TCTACCTGGTGAGTAAGGCCA	0.567000													63	57					0	0	0.000781405	0	0
RPS27A	6233	broad.mit.edu	37	2	55459989	55459989	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:55459989G>A	ENST00000272317.6	+	2	353	c.29G>A	c.(28-30)gGg>gAg	p.G10E	RPS27A_ENST00000402285.3_Missense_Mutation_p.G10E|RPS27A_ENST00000404735.1_Missense_Mutation_p.G10E	NM_002954.5	NP_002945.1	P62979	RS27A_HUMAN	ribosomal protein S27a	10	Ubiquitin-like.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	metal ion binding|structural constituent of ribosome			cervix(1)|ovary(1)|urinary_tract(1)	3						ACCCTTACGGGGAAGACCATC	0.542000													8	16					0	0	0.000274275	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946384	16946384	+	RNA	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:16946384C>T	ENST00000412962.1	-	0	1135																											TCGTCATGCTCCTGCTGCAGG	0.652000													5	18					0	0	0.00198382	0	0
APBB2	323	broad.mit.edu	37	4	40936716	40936716	+	Splice_Site	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr4:40936716C>T	ENST00000295974.8	-	9	1734	c.1104_splice	c.e9-1	p.D369_splice	APBB2_ENST00000506352.1_Splice_Site_p.D348_splice|APBB2_ENST00000513140.1_Splice_Site_p.D348_splice|APBB2_ENST00000508593.1_Splice_Site_p.D370_splice	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	369					cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						GCATGCAAATCCTAGAGGAAA	0.448000													11	28					0	0	0.000978159	0	0
MUC16	94025	broad.mit.edu	37	19	9062981	9062981	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:9062981C>T	ENST00000397910.4	-	3	24668	c.24465G>A	c.(24463-24465)agG>agA	p.R8155R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8157	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGACTTCTGTCCTGGAGACTT	0.542000													18	49					0	0	0.00074312	0	0
RYR1	6261	broad.mit.edu	37	19	39001408	39001408	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:39001408G>A	ENST00000355481.4	+	60	9240	c.9109G>A	c.(9109-9111)Gaa>Aaa	p.E3037K	RYR1_ENST00000360985.3_Missense_Mutation_p.E3037K|RYR1_ENST00000359596.3_Missense_Mutation_p.E3037K	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3037					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CAAGGAGAAGGAAATGATCAC	0.577000													33	28					0	0	0.00209593	0	0
IMPA1	3612	broad.mit.edu	37	8	82571617	82571617	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr8:82571617A>C	ENST00000256108.5	-	9	1268	c.803T>G	c.(802-804)gTt>gGt	p.V268G	IMPA1_ENST00000311489.4_3'UTR|IMPA1_ENST00000449740.2_Missense_Mutation_p.V327G	NM_005536.3	NP_005527.1	P29218	IMPA1_HUMAN	inositol(myo)-1(or 4)-monophosphatase 1	268					inositol phosphate dephosphorylation|phosphatidylinositol biosynthetic process|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity			NS(1)|cervix(1)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|stomach(1)	18					Lithium(DB01356)	CAAAGGTATAACCTGAATTTC	0.378000													40	62					0	0	0.0025221	0	0
ASXL1	171023	broad.mit.edu	37	20	31024332	31024332	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr20:31024332C>T	ENST00000375687.4	+	13	4241	c.3817C>T	c.(3817-3819)Cgt>Tgt	p.R1273C	ASXL1_ENST00000306058.5_Missense_Mutation_p.R1268C	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	1273					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GAGAACACCTCGTTTCTCATC	0.493000			"""F, N, Mis"""		"""MDS, CMML"""								48	41					0	0	0.000781405	0	0
MYO7A	4647	broad.mit.edu	37	11	76909646	76909646	+	Silent	SNP	C	C	T	rs111033259		TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr11:76909646C>T	ENST00000409709.3	+	34	4820	c.4548C>T	c.(4546-4548)atC>atT	p.I1516I	MYO7A_ENST00000458637.2_Silent_p.I1516I|MYO7A_ENST00000409619.2_Silent_p.I1505I	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1516	FERM 1.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TCCCAGAGATCATGGCCGTGT	0.602000													15	5					0	0	0.000308642	0	0
TLE3	7090	broad.mit.edu	37	15	70358439	70358439	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr15:70358439G>A	ENST00000558939.1	-	7	1868	c.491C>T	c.(490-492)tCc>tTc	p.S164F	TLE3_ENST00000539550.1_Missense_Mutation_p.S108F|TLE3_ENST00000560939.1_Missense_Mutation_p.S169F|TLE3_ENST00000558379.1_Missense_Mutation_p.S164F|TLE3_ENST00000559929.1_Missense_Mutation_p.S174F|TLE3_ENST00000557997.1_Missense_Mutation_p.S164F|TLE3_ENST00000558201.1_Missense_Mutation_p.S170F|TLE3_ENST00000560589.1_Missense_Mutation_p.S108F|TLE3_ENST00000557907.1_Missense_Mutation_p.S164F|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000442299.2_Missense_Mutation_p.S164F|TLE3_ENST00000440567.3_Missense_Mutation_p.S157F|TLE3_ENST00000317509.8_Missense_Mutation_p.S164F|TLE3_ENST00000451782.2_Missense_Mutation_p.S164F|TLE3_ENST00000559048.1_Missense_Mutation_p.S169F			Q04726	TLE3_HUMAN	transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)	164	Gly/Pro-rich.				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CAGCAGCCCGGAGCTGCTCCC	0.667000													34	19					0	0	0.00148497	0	0
COL11A1	1301	broad.mit.edu	37	1	103468307	103468307	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:103468307T>C	ENST00000358392.2	-	22	2392	c.2075A>G	c.(2074-2076)aAc>aGc	p.N692S	COL11A1_ENST00000512756.1_Missense_Mutation_p.N564S|COL11A1_ENST00000370096.3_Missense_Mutation_p.N680S|COL11A1_ENST00000353414.4_Missense_Mutation_p.N641S|COL11A1_ENST00000461720.1_5'UTR	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	680	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACATACCATGTTCCCTTTTGG	0.313000													32	43					0	0	0.00283554	0	0
MFSD2B	388931	broad.mit.edu	37	2	24239119	24239119	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:24239119C>T	ENST00000338315.4	+	3	316	c.316C>T	c.(316-318)Cag>Tag	p.Q106*	MFSD2B_ENST00000406420.3_Nonsense_Mutation_p.Q106*			A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	106					transport	integral to membrane				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						CAACAGGAGCCAGAGGACAGG	0.592000													11	16					0	0	0.00185496	0	0
UVSSA	57654	broad.mit.edu	37	4	1360164	1360164	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr4:1360164C>T	ENST00000389851.4	+	8	1680	c.1233C>T	c.(1231-1233)gtC>gtT	p.V411V	UVSSA_ENST00000507531.1_Silent_p.V411V|UVSSA_ENST00000511563.1_5'UTR|UVSSA_ENST00000511216.1_Silent_p.V411V	NM_020894.2	NP_065945.2	Q2YD98	K1530_HUMAN	UV-stimulated scaffold protein A	411																	TTGTGGAGGTCCCTGAGAAGG	0.607000													63	124					0	0	0.000781405	0	0
SALL3	27164	broad.mit.edu	37	18	76754751	76754751	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr18:76754751G>A	ENST00000536229.3	+	1	3070	c.2361G>A	c.(2359-2361)ccG>ccA	p.P787P	SALL3_ENST00000537592.2_Silent_p.P920P|SALL3_ENST00000575389.2_Silent_p.P920P			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	920				D -> N (in Ref. 2; CAB65124).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CCAAGTCCCCGGGCCTGGGCG	0.766000													9	9					0	0	0.000673444	0	0
GLT8D2	83468	broad.mit.edu	37	12	104397074	104397074	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:104397074G>A	ENST00000360814.4	-	5	528	c.123C>T	c.(121-123)tcC>tcT	p.S41S	GLT8D2_ENST00000546436.1_Silent_p.S41S|GLT8D2_ENST00000548660.1_Silent_p.S41S	NM_031302.3	NP_112592.1	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	41						integral to membrane	transferase activity, transferring glycosyl groups			kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						CAGGAGTCTCGGATTCATCAT	0.458000													4	64					0	0	0.000602214	0	0
MBD5	55777	broad.mit.edu	37	2	149227049	149227049	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:149227049G>A	ENST00000407073.1	+	9	2534	c.1537G>A	c.(1537-1539)Gat>Aat	p.D513N	MBD5_ENST00000404807.1_Missense_Mutation_p.D513N	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	513						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TACCAAGTCCGATGGACATCA	0.473000													39	35					0	0	0.00170553	0	0
CEACAM4	1089	broad.mit.edu	37	19	42133272	42133272	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:42133272G>A	ENST00000221954.2	-	1	170	c.60C>T	c.(58-60)atC>atT	p.I20I	CEACAM4_ENST00000600925.1_Silent_p.I20I	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	20						integral to plasma membrane|membrane fraction				NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						CCTCACCTGTGATCAGGAGCC	0.662000													8	14					0	0	0.000274275	0	0
ECE1	1889	broad.mit.edu	37	1	21605833	21605833	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:21605833G>A	ENST00000357071.4	-	1	209	c.95C>T	c.(94-96)tCc>tTc	p.S32F	ECE1_ENST00000264205.6_Intron|ECE1_ENST00000415912.2_Intron|ECE1_ENST00000374893.6_Intron|ECE1_ENST00000436918.2_Intron	NM_001113347.1	NP_001106818.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	44					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		CACCTGCAGGGAAGGAGGCAG	0.692000													27	21					0	0	0.000878237	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33960633	33960633	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:33960633C>T	ENST00000361328.3	+	8	2842	c.2689C>T	c.(2689-2691)Cat>Tat	p.H897Y		NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	897					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CCAAAGAATCCATACGGGAGA	0.498000													32	76					0	0	0.001512	0	0
SLC16A3	9123	broad.mit.edu	37	17	80194685	80194685	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr17:80194685A>C	ENST00000581287.1	+	2	2626	c.304A>C	c.(304-306)Atg>Ctg	p.M102L	SLC16A3_ENST00000392339.1_Missense_Mutation_p.M102L|SLC16A3_ENST00000392341.1_Missense_Mutation_p.M102L|SLC16A3_ENST00000582743.1_Missense_Mutation_p.M102L|SLC16A3_ENST00000584781.1_3'UTR	NM_001206951.1|NM_001206952.1	NP_001193880.1|NP_001193881.1	O15427	MOT4_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 3	102					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane	secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		Pyruvic acid(DB00119)	GTCGCTGGGCATGGTGGCTGC	0.662000											OREG0024821	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	56	36					0	0	0.000781405	0	0
CNTROB	116840	broad.mit.edu	37	17	7850948	7850948	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr17:7850948C>T	ENST00000380262.3	+	14	2978	c.2053C>T	c.(2053-2055)Cct>Tct	p.P685S	CNTROB_ENST00000380255.3_3'UTR|CNTROB_ENST00000565740.1_Missense_Mutation_p.P685S|CNTROB_ENST00000563694.1_Missense_Mutation_p.P685S	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	685	Pro-rich.|Required for centrosome localization.				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				AAGGCCATTCCCTGAGGAAGA	0.557000													29	73					0	0	0.00106085	0	0
UGT3A1	133688	broad.mit.edu	37	5	35991268	35991268	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr5:35991268G>A	ENST00000274278.3	-	1	432	c.75C>T	c.(73-75)atC>atT	p.I25I	UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000507113.1_Silent_p.I25I|UGT3A1_ENST00000333811.4_Intron|UGT3A1_ENST00000503189.1_Silent_p.I25I	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	25						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATATTGTCAGGATTTTGGCAG	0.592000													48	44					0	0	0.000781405	0	0
SALL4	57167	broad.mit.edu	37	20	50408085	50408085	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr20:50408085A>G	ENST00000217086.4	-	2	1048	c.937T>C	c.(937-939)Ttc>Ctc	p.F313L	SALL4_ENST00000395997.3_Missense_Mutation_p.F313L|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	313					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTCAGAGTGAAGGGTGCCAGC	0.632000													52	36					0	0	0.000781405	0	0
OR4M1	441670	broad.mit.edu	37	14	20248994	20248994	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr14:20248994C>T	ENST00000315957.4	+	1	594	c.513C>T	c.(511-513)ccC>ccT	p.P171P		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P171P(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTGTGGGCCCAATGAGTTAG	0.498000													32	124					0	0	0.00128727	0	0
GNL1	2794	broad.mit.edu	37	6	30515258	30515258	+	Silent	SNP	C	C	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr6:30515258C>A	ENST00000376621.3	-	9	2119	c.1149G>T	c.(1147-1149)cgG>cgT	p.R383R		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	383	G.				response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						TCACGACTTTCCGCCCCACCA	0.517000													110	81					1.03447e-49	4.57516e-49	0.000781405	1	0
SLC39A5	283375	broad.mit.edu	37	12	56629484	56629484	+	Splice_Site	SNP	A	A	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:56629484A>T	ENST00000266980.4	+	6	1238	c.945_splice	c.e6+1	p.P315_splice	SLC39A5_ENST00000454355.2_Splice_Site_p.P315_splice	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	315					zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGCTCAGGCCAGTGAGTGATA	0.622000													67	75					0	0	0.000781405	0	0
PCDHA3	56145	broad.mit.edu	37	5	140180842	140180842	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr5:140180842C>T	ENST00000522353.2	+	1	60	c.60C>T	c.(58-60)ctC>ctT	p.L20L	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Silent_p.L20L|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTTCTGCTCCTCGCAGCCT	0.572000													84	24					0	0	0.000781405	0	0
DNAH2	146754	broad.mit.edu	37	17	7671273	7671273	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr17:7671273G>A	ENST00000572933.1	+	23	5191	c.3731G>A	c.(3730-3732)tGg>tAg	p.W1244*	DNAH2_ENST00000389173.2_Nonsense_Mutation_p.W1244*			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1244	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GAGGAGAACTGGAATGAGTGG	0.577000													14	16					0	0	0.00244969	0	0
ZNF318	24149	broad.mit.edu	37	6	43322813	43322813	+	Silent	SNP	T	T	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr6:43322813T>A	ENST00000361428.2	-	4	2336	c.2259A>T	c.(2257-2259)ccA>ccT	p.P753P	ZNF318_ENST00000318149.3_Silent_p.P753P	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	753					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CAGCAGTGTGTGGAAGTCTAA	0.532000													41	113					0	0	0.00222228	0	0
C8B	732	broad.mit.edu	37	1	57417792	57417792	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:57417792C>T	ENST00000543257.1	-	6	1005	c.439G>A	c.(439-441)Gga>Aga	p.G147R	C8B_ENST00000371237.4_Missense_Mutation_p.G199R|C8B_ENST00000535057.1_Missense_Mutation_p.G137R	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	199	LDL-receptor class A.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						GGGGAGCATCCACCTGCATAA	0.483000													68	49					0	0	0.000781405	0	0
USP6	9098	broad.mit.edu	37	17	5045413	5045413	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr17:5045413G>A	ENST00000574788.1	+	24	3919	c.1689G>A	c.(1687-1689)ggG>ggA	p.G563G	USP6_ENST00000304328.5_Silent_p.G246G|USP6_ENST00000332776.4_Silent_p.G563G|USP6_ENST00000250066.6_Silent_p.G563G			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	563					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TTATCTCAGGGAGACATCTTT	0.418000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								30	64					0	0	0.0024448	0	0
ZMYM4	9202	broad.mit.edu	37	1	35881156	35881156	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:35881156C>T	ENST00000314607.6	+	28	4230	c.4150C>T	c.(4150-4152)Ctt>Ttt	p.L1384F	ZMYM4_ENST00000373297.2_Missense_Mutation_p.L1295F	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	1384					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AAACACCCTCCTTTTCTTCAA	0.448000													14	49					0	0	0.000308642	0	0
KAT8	84148	broad.mit.edu	37	16	31141809	31141809	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr16:31141809G>A	ENST00000543774.2	+	10	1374	c.1039G>A	c.(1039-1041)Ggc>Agc	p.G347S	KAT8_ENST00000219797.4_Missense_Mutation_p.G347S|KAT8_ENST00000448516.2_Missense_Mutation_p.G347S			Q9H7Z6	MYST1_HUMAN	K(lysine) acetyltransferase 8	347					histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex|MSL complex	histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding										GAGCACAGTCGGCTCCCCGGA	0.622000													19	12					0	0	0.000958276	0	0
ZNF211	10520	broad.mit.edu	37	19	58153489	58153489	+	Silent	SNP	C	C	T	rs138875681		TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:58153489C>T	ENST00000544273.1	+	5	1998	c.1671C>T	c.(1669-1671)tcC>tcT	p.S557S	ZNF211_ENST00000541801.1_Silent_p.S536S|ZNF211_ENST00000391703.3_Silent_p.S484S|ZNF211_ENST00000254182.7_Silent_p.S536S|ZNF211_ENST00000299871.5_Silent_p.S610S|ZNF211_ENST00000240731.4_Silent_p.S558S|ZNF211_ENST00000420680.1_Silent_p.S549S|ZNF211_ENST00000347302.3_Silent_p.S545S			Q13398	ZN211_HUMAN	zinc finger protein 211	545						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GTGGGAAATCCTTTGGCTGCA	0.418000													29	73					0	0	0.00283554	0	0
UBR4	23352	broad.mit.edu	37	1	19523652	19523652	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:19523652A>G	ENST00000375267.2	-	8	1004	c.1001T>C	c.(1000-1002)cTa>cCa	p.L334P	UBR4_ENST00000375254.3_Missense_Mutation_p.L334P|UBR4_ENST00000375217.2_Missense_Mutation_p.L334P|UBR4_ENST00000375226.2_Missense_Mutation_p.L334P			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	334					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CAGACAACTTAGGCTGAGGAC	0.408000													10	41					0	0	0.000673444	0	0
FASTK	10922	broad.mit.edu	37	7	150775018	150775018	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:150775018G>A	ENST00000297532.6	-	5	1064	c.987C>T	c.(985-987)ccC>ccT	p.P329P	FASTK_ENST00000482571.1_Silent_p.P302P|FASTK_ENST00000489884.1_5'UTR|FASTK_ENST00000353841.2_Silent_p.P188P|FASTK_ENST00000540185.1_3'UTR	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase	329					apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding			lung(4)|stomach(2)	6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		GGGCTCTGAAGGGCAGGCACC	0.592000													19	54					0	0	0.00121646	0	0
TRAK2	66008	broad.mit.edu	37	2	202254172	202254172	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:202254172G>A	ENST00000332624.3	-	12	1676	c.1248C>T	c.(1246-1248)ggC>ggT	p.G416G		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	416	Interaction with HGS (By similarity).			Missing (in Ref. 2).		early endosome|plasma membrane	GABA receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						AGATAGAGCGGCCCCGTGTGT	0.473000													8	29					0	0	0.000442599	0	0
TTN	7273	broad.mit.edu	37	2	179486283	179486283	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:179486283G>A	ENST00000589042.1	-	245	45492	c.45268C>T	c.(45268-45270)Cag>Tag	p.Q15090*	TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.Q13449*|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.Q6150*|TTN_ENST00000342175.6_Nonsense_Mutation_p.Q6217*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.Q12522*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.Q6025*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13449	Fibronectin type-III 9.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAGCGTTCTGAATGACCAGG	0.453000													12	35					0	0	0.00136819	0	0
DSCAML1	57453	broad.mit.edu	37	11	117389342	117389342	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr11:117389342C>T	ENST00000321322.6	-	7	1530	c.1529G>A	c.(1528-1530)cGg>cAg	p.R510Q	DSCAML1_ENST00000527706.1_Missense_Mutation_p.R240Q	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	450	Ig-like C2-type 6.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GCTGCCATCCCGCACGATGGG	0.672000													9	21					0	0	0.000274275	0	0
DENND1A	57706	broad.mit.edu	37	9	126214555	126214555	+	Splice_Site	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr9:126214555G>A	ENST00000373624.2	-	17	1500	c.1299_splice	c.e17+1	p.F433_splice	DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394215.2_Splice_Site_p.F403_splice|DENND1A_ENST00000373618.1_Splice_Site_p.F401_splice|DENND1A_ENST00000542603.1_Splice_Site_p.F175_splice|DENND1A_ENST00000394219.3_Splice_Site_p.F401_splice|DENND1A_ENST00000373620.3_Splice_Site_p.F433_splice	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	433						cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						CAGTACTTACGAACTTGTAGA	0.378000													30	78					0	0	0.000692331	0	0
LRGUK	136332	broad.mit.edu	37	7	133943126	133943126	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:133943126C>T	ENST00000285928.2	+	19	2385	c.2316C>T	c.(2314-2316)gcC>gcT	p.A772A		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	772							ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						GATCAGGAGCCAGTGACAGTG	0.532000													47	38					0	0	0.000680045	0	0
FYB	2533	broad.mit.edu	37	5	39119083	39119083	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr5:39119083G>A	ENST00000351578.6	-	15	2346	c.2156C>T	c.(2155-2157)tCt>tTt	p.S719F	FYB_ENST00000515010.1_Missense_Mutation_p.S719F|FYB_ENST00000540520.1_Missense_Mutation_p.S775F|FYB_ENST00000505428.1_Missense_Mutation_p.S765F|FYB_ENST00000512982.1_Missense_Mutation_p.S765F	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	719					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			CCACTTTTTAGAAGTTATGGA	0.313000													9	33					0	0	0.000274275	0	0
KCNAB2	8514	broad.mit.edu	37	1	6142263	6142263	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:6142263G>C	ENST00000164247.1	+	6	774	c.210G>C	c.(208-210)gaG>gaC	p.E70D	KCNAB2_ENST00000602612.1_Missense_Mutation_p.E70D|KCNAB2_ENST00000352527.1_Missense_Mutation_p.E56D|KCNAB2_ENST00000378097.1_Missense_Mutation_p.E70D|KCNAB2_ENST00000378092.1_Missense_Mutation_p.E56D|KCNAB2_ENST00000341524.1_Missense_Mutation_p.E70D|KCNAB2_ENST00000378087.3_Missense_Mutation_p.E70D|KCNAB2_ENST00000378111.1_Missense_Mutation_p.E70D|KCNAB2_ENST00000458166.2_Missense_Mutation_p.E3D|KCNAB2_ENST00000378083.3_Missense_Mutation_p.E103D	NM_001199860.1	NP_001186789.1	Q13303	KCAB2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 2	70						cytoplasm|integral to membrane|juxtaparanode region of axon	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			large_intestine(1)|lung(4)|skin(3)	8	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)		AGATGGCAGAGCAGCTCATGA	0.582000													19	82					0	0	0.00152264	0	0
OVGP1	5016	broad.mit.edu	37	1	111957229	111957229	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:111957229C>T	ENST00000369732.3	-	11	1949	c.1894G>A	c.(1894-1896)Gaa>Aaa	p.E632K		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	632					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		GGAGTTTGTTCCGGGAGCTGG	0.498000													36	31					0	0	0.00170553	0	0
SCN3A	6328	broad.mit.edu	37	2	165997446	165997446	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:165997446G>A	ENST00000360093.3	-	13	2225	c.1734C>T	c.(1732-1734)ttC>ttT	p.F578F	SCN3A_ENST00000283254.7_Silent_p.F578F|SCN3A_ENST00000409101.3_Silent_p.F578F	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	578						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CTCTGAAACTGAAAATGCTTG	0.463000													14	26					0	0	0.000308642	0	0
GHR	2690	broad.mit.edu	37	5	42718182	42718182	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr5:42718182C>T	ENST00000230882.4	+	9	1094	c.904C>T	c.(904-906)Cca>Tca	p.P302S	GHR_ENST00000513625.1_3'UTR|GHR_ENST00000357703.3_Missense_Mutation_p.P280S|GHR_ENST00000537449.1_Missense_Mutation_p.P115S	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	302					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GCCCCCAGTTCCAGTTCCAAA	0.318000													13	52					0	0	0.000566183	0	0
F3	2152	broad.mit.edu	37	1	94997936	94997936	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:94997936T>G	ENST00000334047.7	-	5	855	c.692A>C	c.(691-693)aAc>aCc	p.N231T	F3_ENST00000370207.4_Intron	NM_001993.4	NP_001984.1	P13726	TF_HUMAN	coagulation factor III (thromboplastin, tissue factor)	231					activation of caspase activity|activation of plasma proteins involved in acute inflammatory response|anti-apoptosis|blood coagulation, extrinsic pathway|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of protein kinase B signaling cascade	extracellular matrix|extracellular space|integral to membrane	cell surface binding|phospholipid binding|protease binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)	14		all_lung(203;0.00106)|Lung NSC(277;0.00475)		all cancers(265;0.0232)|Epithelial(280;0.121)	Coagulation factor VIIa(DB00036)	ACTCTTCCGGTTAACTGTTCG	0.478000													18	53					0	0	0.00121646	0	0
ARPP21	10777	broad.mit.edu	37	3	35770924	35770924	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr3:35770924G>A	ENST00000187397.4	+	15	1811	c.1355G>A	c.(1354-1356)gGa>gAa	p.G452E	ARPP21_ENST00000337271.5_Missense_Mutation_p.G398E|ARPP21_ENST00000444190.1_Missense_Mutation_p.G398E|ARPP21_ENST00000417925.1_Missense_Mutation_p.G418E|ARPP21_ENST00000458225.1_Missense_Mutation_p.G418E	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	452						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CCAGAGAATGGAATAGGGGGC	0.582000													43	4					0	0	0.000680045	0	0
CYP4A11	1579	broad.mit.edu	37	1	47406984	47406984	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:47406984C>T	ENST00000310638.4	-	1	153	c.122G>A	c.(121-123)aGg>aAg	p.R41K	CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000457840.2_5'UTR|CYP4A11_ENST00000371904.4_Missense_Mutation_p.R41K|CYP4A11_ENST00000371905.1_Missense_Mutation_p.R41K	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	41					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	CAGCCACTGCCTGTGCAGGTA	0.607000													36	35					0	0	0.00058488	0	0
PDZD2	23037	broad.mit.edu	37	5	32088933	32088933	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr5:32088933C>T	ENST00000438447.1	+	20	5767	c.5379C>T	c.(5377-5379)atC>atT	p.I1793I	PDZD2_ENST00000282493.3_Silent_p.I1793I			O15018	PDZD2_HUMAN	PDZ domain containing 2	1793					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		p.I1793I(1)		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						CAAAAATGATCGCTAGGAGGC	0.428000													47	25					0	0	0.000680045	0	0
LPHN1	22859	broad.mit.edu	37	19	14263373	14263373	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:14263373G>C	ENST00000340736.6	-	21	3788	c.3491C>G	c.(3490-3492)tCc>tGc	p.S1164C	CTB-55O6.12_ENST00000588658.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.S1159C|CTB-55O6.12_ENST00000588387.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	1164					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CGCCATGAAGGAGGACTCCGT	0.587000													12	6					0	0	0.000422831	0	0
MAK	4117	broad.mit.edu	37	6	10770427	10770427	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr6:10770427C>T	ENST00000313243.2	-	13	2016	c.1634G>A	c.(1633-1635)gGa>gAa	p.G545E	MAK_ENST00000538030.1_3'UTR|MAK_ENST00000354489.2_Missense_Mutation_p.G545E|RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron|MAK_ENST00000474039.1_Missense_Mutation_p.G545E			P20794	MAK_HUMAN	male germ cell-associated kinase	545					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				AGGAATATATCCTGACTGATT	0.398000													87	51					0	0	0.000781405	0	0
SMC3	9126	broad.mit.edu	37	10	112356234	112356234	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr10:112356234A>T	ENST00000361804.4	+	19	2168	c.2042A>T	c.(2041-2043)gAt>gTt	p.D681V		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	681					cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		TTGCAAAAAGATGTTAGAAAA	0.373000													35	6					0	0	0.000953801	0	0
CRIP2	1397	broad.mit.edu	37	14	105944790	105944790	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr14:105944790G>C	ENST00000329146.4	+	3	855	c.142G>C	c.(142-144)Gac>Cac	p.D48H	CRIP2_ENST00000483017.3_Missense_Mutation_p.D122H|CRIP2_ENST00000548989.1_3'UTR	NM_001312.2	NP_001303.1	P52943	CRIP2_HUMAN	cysteine-rich protein 2	48	LIM zinc-binding 1.						zinc ion binding			lung(2)	2		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.235)		TGCGCAGCATGACGGGAAGCC	0.741000													3	6					0	0	6.4e-05	0	0
NKX2-5	1482	broad.mit.edu	37	5	172659850	172659850	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr5:172659850C>T	ENST00000329198.4	-	2	970	c.697G>A	c.(697-699)Gac>Aac	p.D233N		NM_001166175.1|NM_001166176.1|NM_004387.3	NP_001159647.1|NP_001159648.1|NP_004378.1	P52952	NKX25_HUMAN	NK2 homeobox 5	233	Ala/Pro-rich.				adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|outflow tract septum morphogenesis|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|right ventricular cardiac muscle tissue morphogenesis|septum secundum development|spleen development|thyroid gland development|vasculogenesis|ventricular septum morphogenesis		chromatin binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)	12	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GGCGCCGAGTCCCCTAGGCAT	0.726000													8	28					0	0	0.000673444	0	0
RGL4	266747	broad.mit.edu	37	22	24038876	24038876	+	Splice_Site	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr22:24038876G>A	ENST00000290691.5	+	7	2331		c.e7+1		RGL4_ENST00000401461.1_Splice_Site	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4						small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						GCAGAAGAAGGTGAGTGAGCC	0.647000													11	17					0	0	0.00185496	0	0
DBH	1621	broad.mit.edu	37	9	136523475	136523475	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr9:136523475C>T	ENST00000393056.2	+	12	1772	c.1760C>T	c.(1759-1761)tCc>tTc	p.S587F		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	587					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	AAGGTCATCTCCACACTGGAA	0.657000													15	54					0	0	0.000422831	0	0
SACS	26278	broad.mit.edu	37	13	23929489	23929489	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr13:23929489C>T	ENST00000382298.3	-	8	1850	c.1262G>A	c.(1261-1263)gGa>gAa	p.G421E	SACS_ENST00000402364.1_5'UTR|SACS_ENST00000382292.3_Missense_Mutation_p.G421E	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	421					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CATGGCTATTCCAATGATTGG	0.433000													29	65					0	0	0.00209593	0	0
NSFL1C	55968	broad.mit.edu	37	20	1426367	1426367	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr20:1426367G>A	ENST00000216879.4	-	8	1761	c.894C>T	c.(892-894)atC>atT	p.I298I	NSFL1C_ENST00000381658.4_Silent_p.I187I|NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000350991.4_Silent_p.I300I|NSFL1C_ENST00000476071.1_Silent_p.I300I|NSFL1C_ENST00000353088.2_Silent_p.I267I	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	298	UBX.					chromosome|Golgi stack|nucleus	lipid binding|protein binding			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						GCCGAATTTGGATGTTTGTGG	0.512000													128	180					0	0	0.000781405	0	0
TTN	7273	broad.mit.edu	37	2	179621344	179621344	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:179621344G>A	ENST00000589042.1	-	46	11083	c.10859C>T	c.(10858-10860)tCc>tTc	p.S3620F	TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Missense_Mutation_p.S3449F|TTN_ENST00000342992.6_Intron|TTN_ENST00000360870.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3307							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTGTGGATGGAACTTTGAGA	0.378000													14	36					0	0	0.00074312	0	0
GMIP	51291	broad.mit.edu	37	19	19747524	19747524	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:19747524G>A	ENST00000203556.4	-	13	1456	c.1319C>T	c.(1318-1320)tCc>tTc	p.S440F	GMIP_ENST00000587238.1_Missense_Mutation_p.S440F|GMIP_ENST00000445806.2_Missense_Mutation_p.S437F	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	440					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						ACCTGGGCTGGAAGTGGGTGA	0.612000													21	32					0	0	0.00047179	0	0
KRT16P3	644945	broad.mit.edu	37	17	20406445	20406445	+	RNA	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr17:20406445C>T	ENST00000580113.1	-	0	621																											CTTCCATCTCCATCTCCAGGT	0.642000													15	9					0	0	0.000566183	0	0
KCNS3	3790	broad.mit.edu	37	2	18113306	18113306	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:18113306C>T	ENST00000403915.1	+	3	1482	c.1031C>T	c.(1030-1032)tCc>tTc	p.S344F	KCNS3_ENST00000304101.4_Missense_Mutation_p.S344F|KCNS3_ENST00000465292.1_Intron			Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	344					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTTATCTACTCCGTGGAGAAA	0.537000													31	34					0	0	0.00178596	0	0
ARID2	196528	broad.mit.edu	37	12	46230632	46230632	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:46230632G>A	ENST00000334344.6	+	8	1053	c.881G>A	c.(880-882)aGa>aAa	p.R294K	ARID2_ENST00000422737.1_Missense_Mutation_p.R145K|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	294					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GTGATTTTGAGAAATCTTTCC	0.403000			"""N, S, F"""		hepatocellular carcinoma								25	66					0	0	0.000720815	0	0
NPC2	10577	broad.mit.edu	37	14	74951183	74951183	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr14:74951183G>A	ENST00000541064.1	-	3	304	c.298C>T	c.(298-300)Cct>Tct	p.P100S	NPC2_ENST00000555619.1_Missense_Mutation_p.P100S|NPC2_ENST00000557510.1_Missense_Mutation_p.P100S|NPC2_ENST00000238633.2_Missense_Mutation_p.P100S|NPC2_ENST00000434013.2_Missense_Mutation_p.P100S			P61916	NPC2_HUMAN	Niemann-Pick disease, type C2	100					cholesterol efflux|cholesterol homeostasis|glycolipid transport|intracellular cholesterol transport|phospholipid transport|regulation of isoprenoid metabolic process|response to virus	extracellular region|lysosome	cholesterol binding|enzyme binding			breast(1)|endometrium(2)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(2)	7				BRCA - Breast invasive adenocarcinoma(234;0.00149)		TTTTGGATAGGGCAGTTAATT	0.478000													23	43					0	0	0.00229938	0	0
TCTN3	26123	broad.mit.edu	37	10	97443273	97443273	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr10:97443273G>A	ENST00000371209.5	-	10	1208	c.1209C>T	c.(1207-1209)tcC>tcT	p.S403S	TCTN3_ENST00000371217.4_Intron|TCTN3_ENST00000430368.1_Intron|TCTN3_ENST00000265993.8_Intron			Q6NUS6	TECT3_HUMAN	tectonic family member 3	403					apoptosis	integral to membrane				breast(3)|endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Colorectal(252;0.0815)		Epithelial(162;1.69e-07)|all cancers(201;5.63e-06)		GCTCTAAAAAGGATACTGAGT	0.438000													28	7					0	0	0.00178596	0	0
IQSEC2	23096	broad.mit.edu	37	X	53277939	53277939	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chrX:53277939C>T	ENST00000396435.3	-	6	2623	c.2423G>A	c.(2422-2424)gGg>gAg	p.G808E	IQSEC2_ENST00000375365.2_Missense_Mutation_p.G603E|IQSEC2_ENST00000375368.5_Missense_Mutation_p.G798E	NM_001111125.2	NP_001104595.1	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	798	SEC7.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						CTGCCGGTTCCCTAGGAATTC	0.602000													25	3					0	0	0.00127121	0	0
CSMD3	114788	broad.mit.edu	37	8	113308134	113308134	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr8:113308134G>A	ENST00000297405.5	-	54	8786	c.8542C>T	c.(8542-8544)Cga>Tga	p.R2848*	CSMD3_ENST00000343508.3_Nonsense_Mutation_p.R2808*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.R2778*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.R2679*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2848	Sushi 18.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCAATCAATCGAAAACCAGGA	0.403000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			26	37					0	0	0.000720815	0	0
ZNF277	11179	broad.mit.edu	37	7	111958317	111958317	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:111958317C>T	ENST00000361822.3	+	5	675	c.546C>T	c.(544-546)ttC>ttT	p.F182F	ZNF277_ENST00000450657.1_Silent_p.F182F	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN	zinc finger protein 277	182						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						ATGAAGAATTCCTTGGAAACA	0.333000													25	55					0	0	0.000878237	0	0
EZH1	2145	broad.mit.edu	37	17	40870572	40870572	+	Silent	SNP	G	G	A	rs144940655		TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr17:40870572G>A	ENST00000428826.2	-	9	952	c.831C>T	c.(829-831)atC>atT	p.I277I	EZH1_ENST00000585893.1_Silent_p.I237I|EZH1_ENST00000592743.1_Silent_p.I277I|EZH1_ENST00000435174.1_Silent_p.I138I|EZH1_ENST00000415827.2_Silent_p.I268I|EZH1_ENST00000590078.1_Silent_p.I207I			Q92800	EZH1_HUMAN	enhancer of zeste homolog 1 (Drosophila)	277					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		TGGGGCCATCGATGTTGGGTG	0.502000													17	32					0	0	0.00121646	0	0
FSHR	2492	broad.mit.edu	37	2	49295379	49295379	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:49295379C>T	ENST00000406846.2	-	2	322	c.203G>A	c.(202-204)gGa>gAa	p.G68E	FSHR_ENST00000346173.3_Missense_Mutation_p.G68E|FSHR_ENST00000304421.4_Missense_Mutation_p.G68E	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	68					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	GTCCCCAAATCCTGAAAATGC	0.428000									Gonadal Dysgenesis, 46 XX				17	73					0	0	0.00278032	0	0
SLC47A1	55244	broad.mit.edu	37	17	19459367	19459367	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr17:19459367G>A	ENST00000270570.4	+	10	999	c.913G>A	c.(913-915)Gtg>Atg	p.V305M	SLC47A1_ENST00000575023.1_Intron|SLC47A1_ENST00000436810.2_Missense_Mutation_p.V282M|SLC47A1_ENST00000542886.1_3'UTR|SLC47A1_ENST00000457293.1_Missense_Mutation_p.V305M|SLC47A1_ENST00000395585.1_Missense_Mutation_p.V305M|SLC47A1_ENST00000571335.1_Missense_Mutation_p.V110M	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	305						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					GGCCATCATTGTGTACATGGT	0.547000													7	33					0	0	0.000442599	0	0
ATP6V1C2	245973	broad.mit.edu	37	2	10863031	10863031	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:10863031T>G	ENST00000381661.3	+	2	165	c.56T>G	c.(55-57)cTg>cGg	p.L19R	ATP6V1C2_ENST00000272238.4_Missense_Mutation_p.L19R	NM_144583.3	NP_653184.2	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	19					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		TTGCAAGCTCTGGAGAGGATG	0.438000													4	38					0	0	0.00024832	0	0
ZNF287	57336	broad.mit.edu	37	17	16456253	16456253	+	Silent	SNP	A	A	G			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr17:16456253A>G	ENST00000395824.1	-	6	1820	c.1203T>C	c.(1201-1203)tgT>tgC	p.C401C	ZNF287_ENST00000395825.3_Silent_p.C401C			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	394					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		ACTCTTTCCCACATTCTTCAC	0.418000													26	93					0	0	0.00178596	0	0
SMARCC2	6601	broad.mit.edu	37	12	56561944	56561944	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:56561944G>A	ENST00000394023.3	-	26	2855	c.2750C>T	c.(2749-2751)tCt>tTt	p.S917F	SMARCC2_ENST00000550164.1_Missense_Mutation_p.S917F|SMARCC2_ENST00000347471.4_Missense_Mutation_p.S917F|SMARCC2_ENST00000267064.4_Missense_Mutation_p.S886F|RP11-977G19.5_ENST00000553176.1_RNA	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	886					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GGCCACCAAAGATTTGATCTT	0.517000													30	34					0	0	0.00209593	0	0
ANKAR	150709	broad.mit.edu	37	2	190602435	190602435	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:190602435A>T	ENST00000438402.2	+	15	3260	c.3220A>T	c.(3220-3222)Att>Ttt	p.I1074F	ANKAR_ENST00000281412.6_Missense_Mutation_p.I795F|ANKAR_ENST00000431575.2_Silent_p.A1079A|ANKAR_ENST00000313581.4_Silent_p.A1150A|ANKAR_ENST00000520309.1_Silent_p.A1150A			Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	0						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			CAGGCTATGCATTAACACTTT	0.308000													6	18					0	0	0.00116845	0	0
XKR3	150165	broad.mit.edu	37	22	17280873	17280873	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr22:17280873T>C	ENST00000331428.5	-	3	479	c.377A>G	c.(376-378)aAt>aGt	p.N126S		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	126						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CTGTTTAAGATTTTTCAACCA	0.368000													38	53					0	0	0.000814825	0	0
EEF1D	1936	broad.mit.edu	37	8	144672147	144672147	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr8:144672147C>T	ENST00000532741.1	-	1	483	c.255G>A	c.(253-255)gcG>gcA	p.A85A	EEF1D_ENST00000317198.6_Intron|EEF1D_ENST00000529272.1_Intron|EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000528610.1_Intron|EEF1D_ENST00000423316.2_Silent_p.A35A|EEF1D_ENST00000419152.2_Intron|EEF1D_ENST00000531621.1_Intron|EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000524624.1_Intron|EEF1D_ENST00000395119.3_Intron|EEF1D_ENST00000442189.2_Silent_p.A35A			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)	33					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			CGGAGGCGGCCGCCTGTGTGG	0.692000													7	48					0	0	0.00198382	0	0
FOCAD	54914	broad.mit.edu	37	9	20988359	20988359	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr9:20988359G>A	ENST00000380249.1	+	43	5299	c.4935G>A	c.(4933-4935)ttG>ttA	p.L1645L	FOCAD_ENST00000338382.6_Silent_p.L1645L|FOCAD_ENST00000605086.1_Silent_p.L1081L	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN	focadhesin	1645						integral to membrane	binding										AGTGGCTCTTGGAACTGATGG	0.378000													21	30					0	0	0.00047179	0	0
HEPACAM2	253012	broad.mit.edu	37	7	92826826	92826826	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:92826826G>A	ENST00000394468.2	-	5	1187	c.1110C>T	c.(1108-1110)ttC>ttT	p.F370F	HEPACAM2_ENST00000341723.4_Silent_p.F358F|HEPACAM2_ENST00000453812.2_Silent_p.F393F|HEPACAM2_ENST00000440868.1_Silent_p.F358F|HEPACAM2_ENST00000492616.1_5'UTR	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	370						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						TTTTCCATAGGAAGAGAAGAC	0.303000													31	61					0	0	0.00209593	0	0
SCARA5	286133	broad.mit.edu	37	8	27737098	27737098	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr8:27737098G>A	ENST00000354914.3	-	8	1824	c.1339C>T	c.(1339-1341)Cga>Tga	p.R447*	SCARA5_ENST00000380385.2_Nonsense_Mutation_p.R222*	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5 (putative)	447	SRCR.				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		TGCCCGAATCGAGCTGTGCGG	0.617000													70	88					0	0	0.000781405	0	0
ZNF474	133923	broad.mit.edu	37	5	121488724	121488724	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr5:121488724G>A	ENST00000296600.4	+	2	1422	c.1039G>A	c.(1039-1041)Gta>Ata	p.V347I	CTC-441N14.2_ENST00000504829.1_RNA|ZNF474_ENST00000514925.1_Intron	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	347						intracellular	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		AACTGATAAGGTAATTCATGC	0.468000													8	44					0	0	0.000274275	0	0
UPK2	7379	broad.mit.edu	37	11	118828856	118828856	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr11:118828856G>A	ENST00000264031.2	+	5	503	c.468G>A	c.(466-468)atG>atA	p.M156I	UPK2_ENST00000534788.1_3'UTR	NM_006760.3	NP_006751.1	O00526	UPK2_HUMAN	uroplakin 2	156					cellular membrane organization|epithelial cell differentiation|multicellular organismal development	integral to endoplasmic reticulum membrane|integral to plasma membrane				kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.122)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		CAGGGGGCATGGTGGTCATCA	0.622000													25	13					0	0	0.00106085	0	0
STAP1	26228	broad.mit.edu	37	4	68424572	68424572	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr4:68424572C>T	ENST00000265404.2	+	1	127	c.45C>T	c.(43-45)ttC>ttT	p.F15F	STAP1_ENST00000396225.1_Silent_p.F15F	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	15					cellular membrane fusion|intracellular protein transport	cytoplasm				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						GCAGGATCTTCCAGGAAAGGT	0.423000													55	81					0	0	0.000781405	0	0
CPXM2	119587	broad.mit.edu	37	10	125601889	125601889	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr10:125601889G>A	ENST00000241305.3	-	4	783	c.629C>T	c.(628-630)aCt>aTt	p.T210I	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	210	F5/8 type C.				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CCTCCCTTGAGTGATGACACC	0.522000													43	9					0	0	0.000781405	0	0
PREX2	80243	broad.mit.edu	37	8	68981287	68981287	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr8:68981287C>T	ENST00000288368.4	+	12	1636	c.1359C>T	c.(1357-1359)ttC>ttT	p.F453F	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	453	DEP 1.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AACATCAATTCAAACCAGAAC	0.313000													19	39					0	0	0.000958276	0	0
CENPC	1060	broad.mit.edu	37	4	68385046	68385046	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr4:68385046A>G	ENST00000273853.6	-	6	756	c.506T>C	c.(505-507)gTa>gCa	p.V169A		NM_001812.2	NP_001803.2			centromere protein C																		ATTTTGTGATACAGATGTTTT	0.343000													19	110					0	0	0.000958276	0	0
COL6A6	131873	broad.mit.edu	37	3	130308020	130308020	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr3:130308020G>A	ENST00000358511.6	+	11	4243	c.4212G>A	c.(4210-4212)ggG>ggA	p.G1404G	COL6A6_ENST00000453409.2_Silent_p.G1404G	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1404	Triple-helical region.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GACCACCAGGGAAAAGGGTGA	0.433000													37	5					0	0	0.00170553	0	0
DAW1	164781	broad.mit.edu	37	2	228786229	228786229	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:228786229G>A	ENST00000309931.2	+	12	1248	c.1165G>A	c.(1165-1167)Gaa>Aaa	p.E389K	DAW1_ENST00000545118.1_Missense_Mutation_p.E374K|DAW1_ENST00000373666.2_3'UTR	NM_178821.1	NP_849143.1			dynein assembly factor with WDR repeat domains 1																		GCACACTGATGAAATCTTTTC	0.438000													22	28					0	0	0.00278032	0	0
PSG5	5673	broad.mit.edu	37	19	43680131	43680131	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:43680131C>T	ENST00000404580.1	-	3	688	c.600G>A	c.(598-600)agG>agA	p.R200R	PSG5_ENST00000407568.1_Intron|PSG5_ENST00000366175.3_Silent_p.R200R|PSG5_ENST00000342951.6_Silent_p.R200R|PSG5_ENST00000407356.1_Silent_p.R200R|PSG5_ENST00000599812.1_Silent_p.R293R			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	200	Ig-like C2-type 1.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				GAATGAGGATCCTGTTTTCAA	0.507000													36	119					0	0	0.000781405	0	0
OR2M2	391194	broad.mit.edu	37	1	248344023	248344023	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:248344023A>T	ENST00000359682.2	+	1	736	c.736A>T	c.(736-738)Atg>Ttg	p.M246L		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CTCTCACCTCATGGTGGTGGG	0.483000													13	299					0	0	0.00188189	0	0
ADCY8	114	broad.mit.edu	37	8	131848660	131848660	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr8:131848660G>A	ENST00000286355.5	-	12	4630	c.2538C>T	c.(2536-2538)acC>acT	p.T846T	ADCY8_ENST00000377928.3_Silent_p.T715T	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	846					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AAACTGCACAGGTCACCATGG	0.557000										HNSCC(32;0.087)			24	44					0	0	0.00278032	0	0
KCNS3	3790	broad.mit.edu	37	2	18112978	18112978	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:18112978G>A	ENST00000403915.1	+	3	1154	c.703G>A	c.(703-705)Ggg>Agg	p.G235R	KCNS3_ENST00000304101.4_Missense_Mutation_p.G235R|KCNS3_ENST00000465292.1_Intron			Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	235					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTGGTTCACCGGGGAGCTTGC	0.517000													40	36					0	0	0.0025221	0	0
WDR44	54521	broad.mit.edu	37	X	117526679	117526679	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chrX:117526679G>T	ENST00000254029.3	+	4	666	c.271G>T	c.(271-273)Gat>Tat	p.D91Y	WDR44_ENST00000371822.5_Missense_Mutation_p.D66Y|WDR44_ENST00000493448.1_3'UTR|WDR44_ENST00000371825.3_Missense_Mutation_p.D91Y	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	91	Binding activity.					cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						AGAACTCTCTGATCAAGCTAC	0.408000													69	9					1.05635e-38	4.66629e-38	0.000781405	1	0
CTSB	1508	broad.mit.edu	37	8	11705270	11705270	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr8:11705270G>C	ENST00000353047.6	-	7	847	c.594C>G	c.(592-594)tgC>tgG	p.C198W	CTSB_ENST00000453527.2_Missense_Mutation_p.C198W|CTSB_ENST00000534510.1_Missense_Mutation_p.C198W|CTSB_ENST00000415599.2_3'UTR|CTSB_ENST00000530640.2_Missense_Mutation_p.C198W|CTSB_ENST00000531089.1_Missense_Mutation_p.C198W|CTSB_ENST00000345125.3_Missense_Mutation_p.C198W|CTSB_ENST00000434271.1_Missense_Mutation_p.C198W|CTSB_ENST00000533455.1_Missense_Mutation_p.C198W	NM_001908.3	NP_001899.1	P07858	CATB_HUMAN	cathepsin B	198					proteolysis|regulation of apoptosis|regulation of catalytic activity	lysosome|melanosome	cysteine-type endopeptidase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1)	16	all_epithelial(15;0.205)		STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)		CCTCCCCCGTGCATGGGGGCC	0.627000													32	129					0	0	0.000692331	0	0
CYP2B7P	1556	broad.mit.edu	37	19	41455071	41455071	+	RNA	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:41455071C>T	ENST00000599198.1	+	0	1462					NR_001278.1															NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						AGACATCGATCTGACACCCCA	0.572000													4	16					0	0	0.00024832	0	0
DGCR14	8220	broad.mit.edu	37	22	19121829	19121829	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr22:19121829G>A	ENST00000252137.6	-	10	1354	c.1311C>T	c.(1309-1311)acC>acT	p.T437T		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	437					nervous system development	catalytic step 2 spliceosome				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					TGCTTGTGGGGGTCTGCAGCC	0.697000													13	23					0	0	0.00244969	0	0
TTBK2	146057	broad.mit.edu	37	15	43045198	43045198	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr15:43045198T>C	ENST00000267890.6	-	14	2354	c.2246A>G	c.(2245-2247)aAc>aGc	p.N749S		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	749					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		TTGAGATTTGTTACTTTCTCT	0.428000													56	127					0	0	0.000781405	0	0
NDC1	55706	broad.mit.edu	37	1	54284742	54284742	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:54284742A>C	ENST00000371429.3	-	6	1203	c.605T>G	c.(604-606)tTc>tGc	p.F202C	NDC1_ENST00000234725.8_Missense_Mutation_p.F87C|NDC1_ENST00000540001.1_Missense_Mutation_p.F202C|NDC1_ENST00000537333.1_5'UTR|NDC1_ENST00000480952.1_5'UTR	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3			NDC1 transmembrane nucleoporin																		AAAACGCAAGAACTTGTATTG	0.333000													11	37					0	0	0.00136819	0	0
MMP17	4326	broad.mit.edu	37	12	132325220	132325220	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:132325220C>T	ENST00000360564.1	+	4	627	c.525C>T	c.(523-525)ttC>ttT	p.F175F	MMP17_ENST00000535291.1_Silent_p.F91F	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	175					proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)		CCCTGAACTTCCACGAGGTGG	0.667000													17	57					0	0	0.00121646	0	0
NFASC	23114	broad.mit.edu	37	1	204944475	204944475	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:204944475G>A	ENST00000367172.4	+	15	1963	c.1635G>A	c.(1633-1635)gtG>gtA	p.V545V	NFASC_ENST00000403080.1_Silent_p.V545V|NFASC_ENST00000338586.6_Silent_p.V545V|NFASC_ENST00000539706.1_Silent_p.V556V|NFASC_ENST00000404907.1_Silent_p.V556V|NFASC_ENST00000360049.4_Silent_p.V556V|NFASC_ENST00000404076.1_Silent_p.V539V|NFASC_ENST00000338515.6_Silent_p.V545V|NFASC_ENST00000401399.1_Silent_p.V545V|NFASC_ENST00000367169.4_Silent_p.V545V|NFASC_ENST00000339876.6_Silent_p.V545V|NFASC_ENST00000367170.4_Silent_p.V545V|NFASC_ENST00000367171.4_Silent_p.V545V|NFASC_ENST00000513543.1_Silent_p.V556V			O94856	NFASC_HUMAN	neurofascin	545	Ig-like C2-type 6.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AGTGTCGGGTGAAGCACGACC	0.607000											OREG0014142	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	151	19					0	0	0.000781405	0	0
SI	6476	broad.mit.edu	37	3	164748616	164748616	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr3:164748616T>C	ENST00000264382.3	-	25	2838	c.2776A>G	c.(2776-2778)Aac>Gac	p.N926D		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	926	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ACACTAAAGTTTCTTCCAAGA	0.294000										HNSCC(35;0.089)			73	14					0	0	0.000781405	0	0
OR13F1	138805	broad.mit.edu	37	9	107267446	107267446	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr9:107267446G>A	ENST00000334726.2	+	1	992	c.903G>A	c.(901-903)ttG>ttA	p.L301L		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						AAGTGGCCTTGAAAAAATTGC	0.363000													55	39					0	0	0.000781405	0	0
ADCY1	107	broad.mit.edu	37	7	45725619	45725619	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:45725619C>T	ENST00000297323.7	+	13	2154	c.2132C>T	c.(2131-2133)tCg>tTg	p.S711L		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	711					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	GTGGTCCTTTCGTCTGGGGGC	0.657000													38	18					0	0	0.000953801	0	0
BRAF	673	broad.mit.edu	37	7	140453134	140453134	+	Missense_Mutation	SNP	T	T	C	rs121913377		TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:140453134T>C	ENST00000288602.6	-	15	1861	c.1801A>G	c.(1801-1803)Aaa>Gaa	p.K601E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	601	Protein kinase.		K -> E (in colorectal cancer).|K -> Q (in CFC syndrome).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.K601E(40)|p.V600_K601>E(12)|p.T599_R603>I(2)|p.K601del(1)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	CATCGAGATTTCACTGTAGCT	0.368000		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				55	49					0	0	0.000781405	0	0
TMPRSS7	344805	broad.mit.edu	37	3	111797664	111797664	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr3:111797664G>A	ENST00000452346.2	+	17	2303	c.2300G>A	c.(2299-2301)gGg>gAg	p.G767E	TMPRSS7_ENST00000419127.1_Missense_Mutation_p.G641E			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	767	Peptidase S1.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TCCACCTACGGGATCATCACT	0.468000													43	8					0	0	0.000680045	0	0
TOX2	84969	broad.mit.edu	37	20	42680092	42680092	+	Silent	SNP	C	C	T	rs144641336		TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr20:42680092C>T	ENST00000358131.5	+	4	793	c.585C>T	c.(583-585)atC>atT	p.I195I	TOX2_ENST00000423191.1_Silent_p.I144I|TOX2_ENST00000435864.2_Silent_p.I64I|TOX2_ENST00000372999.1_Silent_p.I144I|TOX2_ENST00000341197.3_Silent_p.I186I	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	195					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			GGAGCAGCATCGCCCACAGCT	0.657000													18	19					0	0	0.000566183	0	0
AMIGO2	347902	broad.mit.edu	37	12	47471693	47471693	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:47471693C>T	ENST00000266581.4	-	2	1559	c.1093G>A	c.(1093-1095)Gca>Aca	p.A365T	AMIGO2_ENST00000321382.3_Missense_Mutation_p.A365T|AMIGO2_ENST00000550413.1_Missense_Mutation_p.A365T|AMIGO2_ENST00000429635.1_Missense_Mutation_p.A365T	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	365	Ig-like C2-type.				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					TTATTCATTGCGATACAAGAA	0.408000													21	69					0	0	0.00188189	0	0
ADH1B	125	broad.mit.edu	37	4	100237457	100237457	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr4:100237457C>T	ENST00000305046.8	-	4	329	c.262G>A	c.(262-264)Gat>Aat	p.D88N	ADH1B_ENST00000394887.3_Missense_Mutation_p.D48N			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	88					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	ATGACTTTATCACCTGGAGAG	0.368000													25	27					0	0	0.000586117	0	0
TRPC3	7222	broad.mit.edu	37	4	122846271	122846271	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr4:122846271G>A	ENST00000264811.5	-	2	1277	c.859C>T	c.(859-861)Ctg>Ttg	p.L287L	TRPC3_ENST00000513531.1_Silent_p.L287L|TRPC3_ENST00000379645.3_Silent_p.L360L	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	275					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TCTCCATTCAGAATGGCTTCT	0.448000													61	76					0	0	0.000781405	0	0
AHCYL2	23382	broad.mit.edu	37	7	129019571	129019571	+	Silent	SNP	T	T	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:129019571T>C	ENST00000325006.3	+	2	510	c.456T>C	c.(454-456)tcT>tcC	p.S152S	AHCYL2_ENST00000474594.1_Silent_p.S49S|AHCYL2_ENST00000446544.2_Silent_p.S151S|AHCYL2_ENST00000446212.1_Silent_p.S50S|AHCYL2_ENST00000531335.2_Silent_p.S71S|AHCYL2_ENST00000490911.1_Silent_p.S49S	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	152					one-carbon metabolic process		adenosylhomocysteinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						CTCAGTCATCTACTGACAGCT	0.473000													32	28					0	0	0.000953801	0	0
MS4A1	931	broad.mit.edu	37	11	60230551	60230551	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr11:60230551C>T	ENST00000534668.1	+	3	525	c.236C>T	c.(235-237)cCc>cTc	p.P79L	MS4A1_ENST00000528313.1_Intron|MS4A1_ENST00000534503.1_3'UTR|MS4A1_ENST00000345732.4_Missense_Mutation_p.P79L|MS4A1_ENST00000532073.1_Missense_Mutation_p.P79L|MS4A1_ENST00000389939.2_Missense_Mutation_p.P79L	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	79	Epitope 1.				B cell activation|immune response	integral to plasma membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	ATCTATGCACCCATCTGTGTG	0.507000													54	21					0	0	0.000781405	0	0
MORC1	27136	broad.mit.edu	37	3	108690227	108690227	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr3:108690227G>A	ENST00000232603.5	-	25	2582	c.2500C>T	c.(2500-2502)Cct>Tct	p.P834S	MORC1_ENST00000483760.1_Missense_Mutation_p.P813S	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	834					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TGATGCTCAGGAAAAAAATAC	0.403000													57	11					0	0	0.000781405	0	0
DUSP26	78986	broad.mit.edu	37	8	33454889	33454889	+	Missense_Mutation	SNP	C	C	T	rs11545082		TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr8:33454889C>T	ENST00000256261.4	-	2	662	c.145G>A	c.(145-147)Gag>Aag	p.E49K	DUSP26_ENST00000523956.1_Missense_Mutation_p.E49K	NM_024025.1	NP_076930.1	Q9BV47	DUS26_HUMAN	dual specificity phosphatase 26 (putative)	49						Golgi apparatus|nucleus	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		AGGAGCCGCTCCAACTCGAAG	0.582000													22	41					0	0	0.00188189	0	0
OR52E2	119678	broad.mit.edu	37	11	5080256	5080256	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr11:5080256C>T	ENST00000321522.2	-	1	601	c.602G>A	c.(601-603)gGt>gAt	p.G201D		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		GGCACATAAACCATAAATAAT	0.408000													26	7					0	0	0.000586117	0	0
TNFRSF9	3604	broad.mit.edu	37	1	7998374	7998374	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:7998374C>T	ENST00000377507.3	-	4	391	c.225G>A	c.(223-225)agG>agA	p.R75R		NM_001561.5	NP_001552.2	Q07011	TNR9_HUMAN	tumor necrosis factor receptor superfamily, member 9	75					induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		AACACTCCTTCCTGGTCCTGA	0.493000													11	48					0	0	0.00185496	0	0
TAGLN3	29114	broad.mit.edu	37	3	111732306	111732306	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr3:111732306G>A	ENST00000393917.2	+	5	1060	c.508G>A	c.(508-510)Gga>Aga	p.G170R	TAGLN3_ENST00000273368.4_Missense_Mutation_p.G170R|TAGLN3_ENST00000486460.1_Missense_Mutation_p.G86R|TAGLN3_ENST00000478951.1_Missense_Mutation_p.G170R|TAGLN3_ENST00000455401.2_Missense_Mutation_p.G170R	NM_013259.2	NP_037391.2	Q9UI15	TAGL3_HUMAN	transgelin 3	170					central nervous system development|muscle organ development					endometrium(2)|lung(5)|urinary_tract(1)	8						GCTTCGCCAGGGACAGAACGT	0.557000													41	8					0	0	0.00148497	0	0
ANAPC1	64682	broad.mit.edu	37	2	112630288	112630288	+	Splice_Site	SNP	A	A	G			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:112630288A>G	ENST00000341068.3	-	6	1302	c.528_splice	c.e6-1	p.V177_splice		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	177					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						AACATTTGCAACCTTTCAGGT	0.353000													12	14					0	0	0.00244969	0	0
RGL4	266747	broad.mit.edu	37	22	24038875	24038875	+	Splice_Site	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr22:24038875G>A	ENST00000290691.5	+	7	2331	c.1161_splice	c.e7+1	p.K387_splice	RGL4_ENST00000401461.1_Splice_Site_p.K251_splice	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4	387	Ras-GEF.				small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						GGCAGAAGAAGGTGAGTGAGC	0.652000													11	17					0	0	0.00185496	0	0
ZDHHC4	55146	broad.mit.edu	37	7	6624884	6624884	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:6624884T>C	ENST00000396706.2	+	7	1177	c.734T>C	c.(733-735)cTt>cCt	p.L245P	ZDHHC4_ENST00000405731.3_Missense_Mutation_p.L245P|AC079742.4_ENST00000434951.1_RNA|ZDHHC4_ENST00000335965.6_Missense_Mutation_p.L245P|ZDHHC4_ENST00000396707.2_Missense_Mutation_p.L245P|ZDHHC4_ENST00000396713.2_Missense_Mutation_p.L245P|ZDHHC4_ENST00000396709.1_Missense_Mutation_p.L245P			Q9NPG8	ZDHC4_HUMAN	zinc finger, DHHC-type containing 4	245						integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		ACGGTCTTTCTTATTCAGGTA	0.413000													27	35					0	0	0.00178596	0	0
SNHG14	104472715	broad.mit.edu	37	15	25226985	25226985	+	RNA	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr15:25226985C>T	ENST00000551631.2	+	0	288					NR_001293.1																						AGAATCAGATCGCTAAAATTT	0.383000													7	27					0	0	0.00198382	0	0
CYP1A2	1544	broad.mit.edu	37	15	75042580	75042580	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr15:75042580G>A	ENST00000343932.4	+	2	564	c.501G>A	c.(499-501)aaG>aaA	p.K167K		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	167					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	ATGTGAGCAAGGAGGCTAAGG	0.612000													61	45					0	0	0.000781405	0	0
RGPD4	285190	broad.mit.edu	37	2	108487515	108487515	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:108487515G>A	ENST00000408999.3	+	20	3132	c.3055G>A	c.(3055-3057)Ggt>Agt	p.G1019S	RGPD4_ENST00000354986.4_Missense_Mutation_p.G1019S	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1019					intracellular transport		binding	p.G1019S(1)		breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						AAACACTTCCGGTGACTTTGA	0.388000													125	125					0	0	0.000781405	0	0
FAM47A	158724	broad.mit.edu	37	X	34149691	34149691	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chrX:34149691G>A	ENST00000346193.3	-	1	756	c.705C>T	c.(703-705)ctC>ctT	p.L235L		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	235	Pro-rich.							p.L235_H246delLRPEPPETGVSH(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GCTCCGGGCGGAGATGGGACA	0.632000													30	8					0	0	0.0024448	0	0
SACS	26278	broad.mit.edu	37	13	23939335	23939335	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr13:23939335G>A	ENST00000382298.3	-	6	1015	c.427C>T	c.(427-429)Ctt>Ttt	p.L143F	SACS_ENST00000402364.1_5'UTR|SACS_ENST00000382292.3_Missense_Mutation_p.L143F	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	143					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TTTGACCAAAGAGTCTCTGTT	0.328000													35	48					0	0	0.000953801	0	0
CACNA1E	777	broad.mit.edu	37	1	181767596	181767596	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:181767596G>A	ENST00000526775.1	+	46	6547	c.6382G>A	c.(6382-6384)Gag>Aag	p.E2128K	CACNA1E_ENST00000367567.4_Missense_Mutation_p.E1754K|CACNA1E_ENST00000357570.5_Missense_Mutation_p.E2141K|CACNA1E_ENST00000360108.3_Missense_Mutation_p.E2171K|CACNA1E_ENST00000367570.1_Missense_Mutation_p.E2147K|CACNA1E_ENST00000358338.5_Missense_Mutation_p.E2079K|CACNA1E_ENST00000367573.2_Missense_Mutation_p.E2190K	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2190					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TGATGGAAGCGAGGAGGGCTC	0.642000													13	38					0	0	0.00185496	0	0
PIF1	80119	broad.mit.edu	37	15	65112147	65112147	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr15:65112147G>A	ENST00000268043.4	-	8	1326	c.1232C>T	c.(1231-1233)gCt>gTt	p.A411V	PIF1_ENST00000559239.1_Missense_Mutation_p.A411V|PIF1_ENST00000333425.6_Missense_Mutation_p.A411V			Q9H611	PIF1_HUMAN	PIF1 5'-to-3' DNA helicase	411	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding			kidney(1)|lung(1)	2						CTTGTGGGAAGCTGTGGCCTG	0.642000													15	69					0	0	0.000566183	0	0
PADI4	23569	broad.mit.edu	37	1	17682880	17682880	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:17682880G>A	ENST00000375448.4	+	13	1510	c.1484G>A	c.(1483-1485)aGg>aAg	p.R495K	PADI4_ENST00000487048.1_3'UTR	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	495					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	GCCAGCCCCAGGTCCTGCTAC	0.607000													10	7					0	0	0.000442599	0	0
FAM135B	51059	broad.mit.edu	37	8	139149490	139149490	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr8:139149490A>T	ENST00000395297.1	-	19	4085	c.3915T>A	c.(3913-3915)ttT>ttA	p.F1305L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1305										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)			CGACGTTTTTAAAATACTGCA	0.428000										HNSCC(54;0.14)			23	236					0	0	0.00047179	0	0
CHAF1A	10036	broad.mit.edu	37	19	4409732	4409732	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:4409732C>T	ENST00000301280.5	+	3	1037	c.936C>T	c.(934-936)ttC>ttT	p.F312F		NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	312	Binds to CBX1 chromo shadow domain.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			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)		CCAGTCCCTTCCCCACCTCCA	0.627000								Chromatin Structure					22	20					0	0	0.000720815	0	0
SOX8	30812	broad.mit.edu	37	16	1033854	1033854	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr16:1033854C>A	ENST00000293894.3	+	2	664	c.549C>A	c.(547-549)caC>caA	p.H183Q		NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	183					adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis	cytoplasm|nucleus				central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10		Hepatocellular(780;0.00308)				AAGCCGGCCACAGCGACTCCG	0.677000													14	6					4.36969e-10	1.91409e-09	0.00185496	1	0
GRXCR1	389207	broad.mit.edu	37	4	42964927	42964927	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr4:42964927G>A	ENST00000399770.2	+	2	403	c.403G>A	c.(403-405)Gaa>Aaa	p.E135K		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	135	Glutaredoxin.				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						AACTGATCTAGAATTTGACCG	0.373000													70	105					0	0	0.000781405	0	0
KMT2D	8085	broad.mit.edu	37	12	49428682	49428682	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:49428682G>A	ENST00000301067.7	-	35	10267	c.10268C>T	c.(10267-10269)cCc>cTc	p.P3423L		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CTTTGCAATGGGATCAATGAT	0.507000													5	31					0	0	0.00116845	0	0
IFNAR1	3454	broad.mit.edu	37	21	34715885	34715885	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr21:34715885C>T	ENST00000270139.3	+	5	728	c.576C>T	c.(574-576)ctC>ctT	p.L192L	IFNAR1_ENST00000442357.2_Silent_p.L192L|IFNAR1_ENST00000416947.2_Silent_p.L123L	NM_000629.2	NP_000620.2	P17181	INAR1_HUMAN	interferon (alpha, beta and omega) receptor 1	192	Fibronectin type-III 1.				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	integral to plasma membrane	type I interferon receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	TTTATAAACTCTCACCAGAGA	0.294000													33	47					0	0	0.00178596	0	0
HYDIN	54768	broad.mit.edu	37	16	70972659	70972659	+	Splice_Site	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr16:70972659C>T	ENST00000393567.2	-	44	7004		c.e44-1			NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein											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)				TGCTTGCGTTCTGTGAGGGGA	0.522000													5	26					0	0	0.00116845	0	0
CHRM3	1131	broad.mit.edu	37	1	240072374	240072374	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:240072374C>T	ENST00000255380.4	+	5	2402	c.1623C>T	c.(1621-1623)ccC>ccT	p.P541P		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	541					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	CCGTGAACCCCGTGTGCTATG	0.488000													64	11					0	0	0.000781405	0	0
MYO7B	4648	broad.mit.edu	37	2	128324343	128324343	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:128324343C>T	ENST00000389524.4	+	5	464	c.411C>T	c.(409-411)atC>atT	p.I137I	MYO7B_ENST00000428314.1_Silent_p.I137I|MYO7B_ENST00000409816.2_Silent_p.I137I			Q6PIF6	MYO7B_HUMAN	myosin VIIB	137	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TCTTTGCCATCGCCAACAACT	0.597000													5	11					0	0	0.00116845	0	0
OR10J3	441911	broad.mit.edu	37	1	159284433	159284433	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:159284433G>A	ENST00000332217.5	-	1	16	c.17C>T	c.(16-18)tCc>tTc	p.S6F		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)					CACAAAAGTGGAATTTAGCTT	0.433000													103	227					0	0	0.000781405	0	0
MUCL1	118430	broad.mit.edu	37	12	55248394	55248394	+	Silent	SNP	T	T	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:55248394T>C	ENST00000308796.6	+	1	74	c.28T>C	c.(28-30)Ttg>Ctg	p.L10L	MUCL1_ENST00000547990.1_Intron|MUCL1_ENST00000546809.1_Intron	NM_058173.2	NP_477521.1	Q96DR8	MUCL1_HUMAN	mucin-like 1	10						extracellular region|membrane				breast(1)|kidney(1)|lung(1)	3						CCTGGTACTCTTGGGAGTTTC	0.428000													16	48					0	0	0.000566183	0	0
TLN2	83660	broad.mit.edu	37	15	63047816	63047816	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr15:63047816C>T	ENST00000561311.1	+	36	4792	c.4562C>T	c.(4561-4563)cCa>cTa	p.P1521L	TLN2_ENST00000306829.6_Missense_Mutation_p.P1521L			Q9Y4G6	TLN2_HUMAN	talin 2	1521					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						ACGGCCAACCCAGTAGCCAAG	0.577000													19	18					0	0	0.000958276	0	0
ABCB5	340273	broad.mit.edu	37	7	20683112	20683112	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:20683112G>A	ENST00000404938.2	+	7	1187	c.535G>A	c.(535-537)Gga>Aga	p.G179R		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	365					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TGATGGTATTGGAGATAAGAT	0.378000													28	186					0	0	0.0024448	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12884953	12884953	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:12884953G>A	ENST00000535591.1	-	4	1353	c.1158C>T	c.(1156-1158)ctC>ctT	p.L386L		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	386										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						TGCTCCAGCAGAGAGTACCAT	0.502000													136	100					0	0	0.000781405	0	0
SP100	6672	broad.mit.edu	37	2	231406069	231406069	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:231406069C>T	ENST00000340126.4	+	27	2416	c.2385C>T	c.(2383-2385)ttC>ttT	p.F795F	AC010149.4_ENST00000414539.1_RNA|AC010149.4_ENST00000455357.1_RNA	NM_001080391.1	NP_001073860.1	P23497	SP100_HUMAN	SP100 nuclear antigen	0					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GCTGCTTTTTCGCCTCAGAAC	0.388000													28	21					0	0	0.0024448	0	0
PRKAG2	51422	broad.mit.edu	37	7	151478268	151478268	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:151478268C>T	ENST00000287878.4	-	3	940	c.436G>A	c.(436-438)Ggc>Agc	p.G146S	PRKAG2_ENST00000392801.2_Missense_Mutation_p.G102S|PRKAG2_ENST00000461529.1_5'UTR	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	146					ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			breast(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)		AACCTGATGCCCCCGGGCGAG	0.592000													26	83					0	0	0.00127121	0	0
CRLF1	9244	broad.mit.edu	37	19	18710594	18710594	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:18710594A>G	ENST00000392386.3	-	2	371	c.178T>C	c.(178-180)Tgc>Cgc	p.C60R		NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	60	Ig-like C2-type.				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						TGCACTGAGCAGGTGGCCAGC	0.667000													4	9					0	0	0.00024832	0	0
DDX42	11325	broad.mit.edu	37	17	61889390	61889390	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr17:61889390G>A	ENST00000578681.1	+	15	2098	c.1497G>A	c.(1495-1497)ggG>ggA	p.G499G	DDX42_ENST00000359353.5_Silent_p.G380G|DDX42_ENST00000583590.1_Silent_p.G499G|DDX42_ENST00000457800.2_Silent_p.G499G|DDX42_ENST00000389924.2_Silent_p.G499G	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	499	Helicase C-terminal.				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						CCTCTTCAGGGAGTGTCCTCC	0.458000													168	89					0	0	0.000781405	0	0
HELZ	9931	broad.mit.edu	37	17	65124822	65124822	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr17:65124822G>A	ENST00000358691.5	-	24	3498	c.3332C>T	c.(3331-3333)gCt>gTt	p.A1111V	HELZ_ENST00000580168.1_Missense_Mutation_p.A1112V	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CAGTCTTAGAGCCCGGGGGAT	0.433000													45	210					0	0	0.000781405	0	0
JMJD7-PLA2G4B	8681	broad.mit.edu	37	15	42138519	42138519	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr15:42138519C>T	ENST00000382448.4	+	22	2421	c.2412C>T	c.(2410-2412)ttC>ttT	p.F804F	JMJD7-PLA2G4B_ENST00000458483.1_Silent_p.F573F|PLA2G4B_ENST00000452633.1_Silent_p.F573F|JMJD7-PLA2G4B_ENST00000342159.4_Silent_p.F804F	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN		573					arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						CACATAATTTCCTGCGTGGCC	0.517000													69	50					0	0	0.000781405	0	0
RPN2	6185	broad.mit.edu	37	20	35833295	35833295	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr20:35833295C>T	ENST00000237530.6	+	6	992	c.681C>T	c.(679-681)tcC>tcT	p.S227S	RPN2_ENST00000373622.5_Silent_p.S195S	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	227					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				CTGAGCCATCCATTAAGGAGG	0.468000													44	84					0	0	0.000781405	0	0
VN1R4	317703	broad.mit.edu	37	19	53770866	53770866	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:53770866C>T	ENST00000311170.4	-	1	106	c.53G>A	c.(52-54)gGa>gAa	p.G18E		NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	18					response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		CCCCAGGACTCCCACCACGGT	0.498000										HNSCC(26;0.072)			19	51					0	0	0.000958276	0	0
OR2L2	26246	broad.mit.edu	37	1	248202182	248202182	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:248202182T>A	ENST00000366479.2	+	1	709	c.613T>A	c.(613-615)Ttt>Att	p.F205I	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CAGCACCATCTTTCTTGTGCT	0.483000													46	201					0	0	0.000781405	0	0
CDON	50937	broad.mit.edu	37	11	125864781	125864781	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr11:125864781G>A	ENST00000392693.3	-	13	2656	c.2529C>T	c.(2527-2529)atC>atT	p.I843I	CDON_ENST00000531738.1_Silent_p.I220I|CDON_ENST00000263577.7_Silent_p.I843I	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	843	Fibronectin type-III 3.				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		ACTTTAGCATGATCTGAGTAT	0.423000													17	11					0	0	0.000566183	0	0
NOTCH2	4853	broad.mit.edu	37	1	120458966	120458966	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:120458966T>A	ENST00000256646.2	-	34	6598	c.6379A>T	c.(6379-6381)Aag>Tag	p.K2127*		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	2127					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTACTACCCTTGGCATCCTTT	0.512000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				140	460					0	0	0.000781405	0	0
ADAMTS4	9507	broad.mit.edu	37	1	161168006	161168006	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:161168006A>C	ENST00000367996.4	-	1	840	c.412T>G	c.(412-414)Tcg>Gcg	p.S138A	ADAMTS4_ENST00000367995.3_Missense_Mutation_p.S138A	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	138					proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GATGCCACCGACTCCGGATCT	0.637000													22	43					0	0	0.00047179	0	0
ZNF177	7730	broad.mit.edu	37	19	9489680	9489680	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:9489680G>A	ENST00000446085.4	+	7	608	c.76G>A	c.(76-78)Gag>Aag	p.E26K	ZNF177_ENST00000541595.2_Missense_Mutation_p.E26K|ZNF177_ENST00000343499.4_Missense_Mutation_p.E26K|ZNF177_ENST00000605471.1_3'UTR|ZNF177_ENST00000590616.1_Missense_Mutation_p.E26K|ZNF177_ENST00000589262.1_Missense_Mutation_p.E26K|ZNF177_ENST00000434737.2_Missense_Mutation_p.E26K|ZNF177_ENST00000602856.1_Missense_Mutation_p.E26K|ZNF177_ENST00000602738.1_Missense_Mutation_p.E26K			Q13360	ZN177_HUMAN	zinc finger protein 177	26	KRAB.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						CTTTTCCCAGGAGGAGTGGGC	0.458000													20	59					0	0	0.00188189	0	0
PTPRN2	5799	broad.mit.edu	37	7	157931004	157931004	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:157931004G>A	ENST00000389413.3	-	7	1217	c.1114C>T	c.(1114-1116)Cgt>Tgt	p.R372C	PTPRN2_ENST00000389416.4_Missense_Mutation_p.R355C|PTPRN2_ENST00000409483.1_Missense_Mutation_p.R334C|PTPRN2_ENST00000404321.2_Missense_Mutation_p.R395C|PTPRN2_ENST00000389418.4_Missense_Mutation_p.R372C	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	372						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.R372C(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CTGTCTCCACGGAGGGTGGCC	0.677000													17	32					0	0	0.000958276	0	0
HAPLN1	1404	broad.mit.edu	37	5	82940241	82940241	+	Missense_Mutation	SNP	C	C	T	rs139074313		TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr5:82940241C>T	ENST00000274341.4	-	4	1566	c.716G>A	c.(715-717)gGa>gAa	p.G239E		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	239	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	p.G239E(1)		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)		ATCCCAAAATCCGTAGTTCCT	0.453000													63	28					0	0	0.000781405	0	0
ZNF418	147686	broad.mit.edu	37	19	58437580	58437580	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:58437580G>A	ENST00000396147.1	-	4	2260	c.1969C>T	c.(1969-1971)Cat>Tat	p.H657Y	ZNF418_ENST00000595830.1_Missense_Mutation_p.H657Y|ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000425570.3_Missense_Mutation_p.H678Y|ZNF418_ENST00000599852.1_Missense_Mutation_p.H572Y	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	657					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		GAGCTTCGATGAAATGATTTT	0.413000													17	62					0	0	0.00188189	0	0
RSPH9	221421	broad.mit.edu	37	6	43638590	43638590	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr6:43638590G>A	ENST00000372165.4	+	6	840	c.787G>A	c.(787-789)Ggg>Agg	p.G263R	RSPH9_ENST00000372163.4_Silent_p.P245P	NM_001193341.1	NP_001180270.1	Q9H1X1	RSPH9_HUMAN	radial spoke head 9 homolog (Chlamydomonas)	0					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TGCTCTGGCCGGGCCTCACCT	0.592000									Kartagener syndrome				61	37					0	0	0.000781405	0	0
TYW1	55253	broad.mit.edu	37	7	66703421	66703421	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:66703421C>T	ENST00000359626.5	+	16	2268	c.2104C>T	c.(2104-2106)Cac>Tac	p.H702Y		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	702					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				CAGAACTCCTCACTGGGCATT	0.428000													57	48					0	0	0.000781405	0	0
RFX6	222546	broad.mit.edu	37	6	117246782	117246782	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr6:117246782C>T	ENST00000332958.2	+	16	1861	c.1845C>T	c.(1843-1845)caC>caT	p.H615H		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	615					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CTGCTCTGCACCAGTTCCCTG	0.542000													16	5					0	0	0.000422831	0	0
GIGYF2	26058	broad.mit.edu	37	2	233613726	233613726	+	Silent	SNP	T	T	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:233613726T>C	ENST00000373566.3	+	5	398	c.201T>C	c.(199-201)ttT>ttC	p.F67F	GIGYF2_ENST00000373563.4_Silent_p.F67F|GIGYF2_ENST00000409480.1_Silent_p.F67F|GIGYF2_ENST00000409451.3_Silent_p.F67F|GIGYF2_ENST00000409547.1_Silent_p.F67F|GIGYF2_ENST00000409196.3_Silent_p.F67F			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	67					cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		ATAAAGAATTTCTGCCTATCC	0.408000													142	121					0	0	0.000781405	0	0
ACD	65057	broad.mit.edu	37	16	67694201	67694201	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr16:67694201G>A	ENST00000219251.8	-	1	512	c.181C>T	c.(181-183)Cct>Tct	p.P61S	ACD_ENST00000393919.4_Missense_Mutation_p.P61S	NM_001082486.1|NM_001082487.1|NM_022914.2	NP_001075955.1|NP_001075956.1|NP_075065.2	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	61					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding	p.P61S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CTCGGAAGAGGAAGCTCCTTC	0.736000													7	15					0	0	0.000274275	0	0
KIAA1737	85457	broad.mit.edu	37	14	77580243	77580243	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr14:77580243C>T	ENST00000361786.2	+	4	1099	c.782C>T	c.(781-783)tCc>tTc	p.S261F	RP11-463C8.4_ENST00000557752.1_Intron	NM_033426.2	NP_219494.2	Q9C0C6	K1737_HUMAN	KIAA1737	261										endometrium(2)|lung(4)|prostate(3)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)		ACCTTCGCTTCCCCCGCCAGT	0.567000													14	27					0	0	0.00244969	0	0
SLC22A6	9356	broad.mit.edu	37	11	62752150	62752150	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr11:62752150C>T	ENST00000377871.3	-	1	279	c.13G>A	c.(13-15)Gac>Aac	p.D5N	SLC22A6_ENST00000421062.2_Missense_Mutation_p.D5N|SLC22A6_ENST00000360421.4_Missense_Mutation_p.D5N|SLC22A6_ENST00000458333.2_Missense_Mutation_p.D5N	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	5					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TGCAGGAGGTCATTAAAGGCC	0.647000													15	6					0	0	0.000566183	0	0
MAP3K9	4293	broad.mit.edu	37	14	71204984	71204984	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr14:71204984C>T	ENST00000554752.2	-	8	1821	c.1822G>A	c.(1822-1824)Gag>Aag	p.E608K	MAP3K9_ENST00000381250.4_Missense_Mutation_p.E608K|MAP3K9_ENST00000553414.1_Missense_Mutation_p.E350K|MAP3K9_ENST00000555993.2_Missense_Mutation_p.E608K|MAP3K9_ENST00000554146.1_Missense_Mutation_p.E345K			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	608					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GAGGCAAGCTCCTTCTGACCA	0.507000													22	39					0	0	0.000720815	0	0
VRTN	55237	broad.mit.edu	37	14	74824974	74824974	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr14:74824974G>A	ENST00000256362.4	+	2	1729	c.1488G>A	c.(1486-1488)gaG>gaA	p.E496E		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	496					transposition, DNA-mediated		DNA binding|transposase activity			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						CCCCCGGGGAGCTCCTGCCAC	0.652000													16	23					0	0	0.000308642	0	0
THRAP3	9967	broad.mit.edu	37	1	36754863	36754863	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:36754863C>T	ENST00000354618.5	+	5	1467	c.1243C>T	c.(1243-1245)Cga>Tga	p.R415*	THRAP3_ENST00000469141.2_Nonsense_Mutation_p.R415*	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	415					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GTATAAGCTCCGAGATGACTT	0.433000			T	USP6	aneurysmal bone cysts								38	33					0	0	0.000814825	0	0
FRG1B	284802	broad.mit.edu	37	20	29628283	29628283	+	Silent	SNP	G	G	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr20:29628283G>C	ENST00000278882.3	+	6	665	c.285G>C	c.(283-285)ggG>ggC	p.G95G	FRG1B_ENST00000439954.2_Silent_p.G100G|FRG1B_ENST00000358464.4_Silent_p.G95G														p.G95G(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGAAGCAGGGGACATAGAAG	0.378000													4	83					0	0	0.000602214	0	0
RNF103	7844	broad.mit.edu	37	2	86832146	86832146	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:86832146G>A	ENST00000237455.4	-	4	1846	c.878C>T	c.(877-879)cCt>cTt	p.P293L	CHMP3_ENST00000439940.2_Intron|RNF103_ENST00000477307.1_5'UTR|AC015971.2_ENST00000597638.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000439077.1_RNA|AC015971.2_ENST00000424788.1_RNA	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	293					central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						AATTCCTTCAGGAGTTCTAAG	0.358000													5	45					0	0	0.00116845	0	0
ATP2A3	489	broad.mit.edu	37	17	3844304	3844304	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr17:3844304G>A	ENST00000309890.7	-	14	2211	c.2061C>T	c.(2059-2061)atC>atT	p.I687I	ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000359983.3_Silent_p.I687I|ATP2A3_ENST00000352011.3_Silent_p.I687I|ATP2A3_ENST00000397035.3_Silent_p.I687I|ATP2A3_ENST00000397041.3_Silent_p.I687I|ATP2A3_ENST00000397043.3_Silent_p.I687I	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	ATPase, Ca++ transporting, ubiquitous	687					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GGTTCTCCACGATGCGGGACT	0.667000													12	66					0	0	0.00244969	0	0
GALNT12	79695	broad.mit.edu	37	9	101585614	101585614	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr9:101585614T>C	ENST00000375011.3	+	2	448	c.448T>C	c.(448-450)Tca>Cca	p.S150P		NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)	150	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				TGAAGCCTGGTCAACTCTCCT	0.423000													65	30					0	0	0.000781405	0	0
KCNT2	343450	broad.mit.edu	37	1	196395036	196395036	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:196395036C>T	ENST00000367433.5	-	11	1168	c.1067G>A	c.(1066-1068)cGa>cAa	p.R356Q	KCNT2_ENST00000367431.4_Missense_Mutation_p.R356Q|KCNT2_ENST00000294725.8_Missense_Mutation_p.R356Q|KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	356						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GTAGATAACTCGTTGGGACCA	0.413000													22	82					0	0	0.00229938	0	0
JPH3	57338	broad.mit.edu	37	16	87678092	87678092	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr16:87678092C>T	ENST00000284262.2	+	2	853	c.611C>T	c.(610-612)tCc>tTc	p.S204F		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	204					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		CACAGTGACTCCGAGATCCTC	0.682000													25	27					0	0	0.00106085	0	0
MIR522	574495	broad.mit.edu	37	19	54254527	54254527	+	RNA	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:54254527C>T	ENST00000385071.1	+	0	63					NR_030217.1																						GAAAATGGTTCCCTTTAGAGT	0.418000													27	32					0	0	0.001512	0	0
TRAV8-6	28680	broad.mit.edu	37	14	22447109	22447109	+	RNA	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr14:22447109C>T	ENST00000390443.3	+	0	310																											ACAGCCAAGTCCCTGTCTTTG	0.468000											OREG0022573	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	36	55					0	0	0.00128727	0	0
SLC2A10	81031	broad.mit.edu	37	20	45354013	45354013	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr20:45354013C>T	ENST00000359271.2	+	2	588	c.338C>T	c.(337-339)tCc>tTc	p.S113F		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	113						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				TTCGCCATTTCCCTCTCCTCC	0.662000													44	72					0	0	0.00222228	0	0
SSTR2	6752	broad.mit.edu	37	17	71166474	71166474	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr17:71166474A>T	ENST00000357585.2	+	2	1385	c.1016A>T	c.(1015-1017)gAg>gTg	p.E339V	SSTR2_ENST00000315332.2_Intron|RP11-143K11.5_ENST00000580671.1_RNA	NM_001050.2	NP_001041.1	P30874	SSR2_HUMAN	somatostatin receptor 2	339					digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity			endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)			GATGATGGGGAGCGGAGTGAC	0.522000													14	51					0	0	0.000308642	0	0
FGD6	55785	broad.mit.edu	37	12	95486565	95486565	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:95486565C>T	ENST00000343958.4	-	16	3880	c.3657G>A	c.(3655-3657)tgG>tgA	p.W1219*	FGD6_ENST00000546711.1_Nonsense_Mutation_p.W1219*	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	1219					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TATCAGGAATCCAGATGGGAG	0.493000													12	31					0	0	0.00185496	0	0
ABHD17A	81926	broad.mit.edu	37	19	1880087	1880087	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:1880087A>C	ENST00000292577.7	-	3	793	c.360T>G	c.(358-360)aaT>aaG	p.N120K	ABHD17A_ENST00000250974.9_Missense_Mutation_p.N171K|ABHD17A_ENST00000590661.1_Intron	NM_001130111.1	NP_001123583.1			abhydrolase domain containing 17A																		GGTCCACGGCATTGCCGTGCG	0.632000													10	17					0	0	0.000978159	0	0
ANKS1B	56899	broad.mit.edu	37	12	100219129	100219129	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:100219129G>A	ENST00000547776.2	-	2	172	c.173C>T	c.(172-174)tCg>tTg	p.S58L	ANKS1B_ENST00000329257.7_Missense_Mutation_p.S58L|ANKS1B_ENST00000547010.1_Intron	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	58						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		AGTGTAACCCGAACTGTCTGT	0.433000													12	6					0	0	0.00185496	0	0
TTC31	64427	broad.mit.edu	37	2	74719532	74719532	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:74719532G>A	ENST00000233623.5	+	11	1128	c.1121G>A	c.(1120-1122)cGg>cAg	p.R374Q	TTC31_ENST00000410003.1_3'UTR|TTC31_ENST00000442235.2_Intron	NM_022492.4	NP_071937.4	Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31	374							binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						GGCTGGCCCCGGGGCCTCTTC	0.612000													20	25					0	0	0.00229938	0	0
ASAP3	55616	broad.mit.edu	37	1	23760005	23760005	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:23760005C>T	ENST00000336689.3	-	21	2084	c.2040G>A	c.(2038-2040)ggG>ggA	p.G680G	ASAP3_ENST00000495646.1_Silent_p.G184G|ASAP3_ENST00000484906.1_5'UTR|ASAP3_ENST00000437606.2_Silent_p.G671G	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	680					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						AGGCAAAGGTCCCCGCCTGGG	0.592000													29	93					0	0	0.00209593	0	0
TTN	7273	broad.mit.edu	37	2	179429624	179429624	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:179429624G>A	ENST00000589042.1	-	326	81459	c.81235C>T	c.(81235-81237)Cct>Tct	p.P27079S	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P25438S|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P18139S|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P18206S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P24511S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P18014S|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25438	Fibronectin type-III 97.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCACAAAAGGAGTTCCAGGT	0.403000													6	39					0	0	0.00116845	0	0
HMBS	3145	broad.mit.edu	37	11	118960442	118960442	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr11:118960442C>T	ENST00000537841.1	+	6	556	c.265C>T	c.(265-267)Cct>Tct	p.P89S	HMBS_ENST00000534956.1_3'UTR|HMBS_ENST00000392841.1_Missense_Mutation_p.P89S|HMBS_ENST00000542729.1_Missense_Mutation_p.P89S|HMBS_ENST00000278715.3_Missense_Mutation_p.P106S|HMBS_ENST00000442944.2_Missense_Mutation_p.P89S|HMBS_ENST00000544387.1_Missense_Mutation_p.P106S|HMBS_ENST00000543090.1_Missense_Mutation_p.P88S			P08397	HEM3_HUMAN	hydroxymethylbilane synthase	106					peptidyl-pyrromethane cofactor linkage	cytosol	hydroxymethylbilane synthase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		TGTGCTTCCTCCTGGCTTCAC	0.552000													12	4					0	0	0.000566183	0	0
NOX5	79400	broad.mit.edu	37	15	69320647	69320647	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr15:69320647C>T	ENST00000260364.5	+	4	514	c.213C>T	c.(211-213)ctC>ctT	p.L71L	NOX5_ENST00000530406.2_Silent_p.L89L|RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000448182.3_Silent_p.L71L|NOX5_ENST00000388866.3_Silent_p.L89L|NOX5_ENST00000455873.3_Silent_p.L82L			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	89	EF-hand 2.|N-terminal regulatory region; interacts with the C-terminal catalytic region in a calcium-dependent manner.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						TGACCCTGCTCATCCATGGCA	0.557000													54	44					0	0	0.000781405	0	0
ARIH2	10425	broad.mit.edu	37	3	49008135	49008135	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr3:49008135C>T	ENST00000356401.4	+	8	1107	c.768C>T	c.(766-768)ttC>ttT	p.F256F	ARIH2_ENST00000490095.1_3'UTR|ARIH2_ENST00000449376.1_Silent_p.F256F	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN	ariadne RBR E3 ubiquitin protein ligase 2	256					developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		ACGAGGTCTTCTGGTAAGAGT	0.597000													39	3					0	0	0.000953801	0	0
MUC16	94025	broad.mit.edu	37	19	9056344	9056344	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:9056344C>T	ENST00000397910.4	-	3	31305	c.31102G>A	c.(31102-31104)Gag>Aag	p.E10368K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10370	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGCTGCTCTCTGTCCCAAGA	0.478000													23	59					0	0	0.00278032	0	0
C8orf76	84933	broad.mit.edu	37	8	124232387	124232387	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr8:124232387G>A	ENST00000276704.4	-	6	1150	c.1099C>T	c.(1099-1101)Cca>Tca	p.P367S		NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	chromosome 8 open reading frame 76	367							binding			NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TTTTCAAATGGACAGAAATGG	0.383000													33	62					0	0	0.000953801	0	0
OBSCN	84033	broad.mit.edu	37	1	228401965	228401965	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:228401965C>T	ENST00000570156.2	+	4	1423	c.1349C>T	c.(1348-1350)cCc>cTc	p.P450L	OBSCN_ENST00000284548.11_Missense_Mutation_p.P450L|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.P450L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	450	Ig-like 5.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			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)				CCGGTGGGCCCCGTCCACTGG	0.692000													68	50					0	0	0.000781405	0	0
NEB	4703	broad.mit.edu	37	2	152506779	152506779	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:152506779G>A	ENST00000427231.2	-	54	7544	c.7342C>T	c.(7342-7344)Cgt>Tgt	p.R2448C	NEB_ENST00000603639.1_Missense_Mutation_p.R2448C|NEB_ENST00000409198.1_Missense_Mutation_p.R2448C|NEB_ENST00000172853.10_Missense_Mutation_p.R2448C|NEB_ENST00000397345.3_Missense_Mutation_p.R2448C|NEB_ENST00000604864.1_Missense_Mutation_p.R2448C	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	2448					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	p.R2448C(2)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGAGGCTGACGATATTTCTTC	0.463000													31	19					0	0	0.0024448	0	0
SEMA5A	9037	broad.mit.edu	37	5	9044626	9044626	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr5:9044626G>A	ENST00000382496.5	-	22	3629	c.2964C>T	c.(2962-2964)ctC>ctT	p.L988L	CTD-2215L10.1_ENST00000506519.1_RNA	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	988					cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						AAGTATAGACGAGCAGGGTGA	0.562000													56	30					0	0	0.000781405	0	0
METTL18	92342	broad.mit.edu	37	1	169762117	169762117	+	Silent	SNP	T	T	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:169762117T>C	ENST00000310392.4	-	2	1073	c.720A>G	c.(718-720)gaA>gaG	p.E240E	METTL18_ENST00000303469.2_Silent_p.E240E|C1orf112_ENST00000498289.1_Intron	NM_033418.2	NP_219486.1	O95568	MET18_HUMAN	methyltransferase like 18	240						cytoplasm	protein methyltransferase activity			kidney(1)|large_intestine(3)|lung(4)	8						CATCATTTTCTTCATCTTCCA	0.358000													50	119					0	0	0.000781405	0	0
KIAA2018	205717	broad.mit.edu	37	3	113375998	113375998	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr3:113375998G>A	ENST00000316407.4	-	7	4941	c.4531C>T	c.(4531-4533)Caa>Taa	p.Q1511*	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Nonsense_Mutation_p.Q1511*	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	1511	Gln-rich.				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GTCCTCTGTTGGTGGACATTA	0.483000													64	13					0	0	0.000781405	0	0
SERPINB10	5273	broad.mit.edu	37	18	61602223	61602223	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr18:61602223C>T	ENST00000238508.3	+	8	1000	c.941C>T	c.(940-942)gCc>gTc	p.A314V	AC009802.1_ENST00000599868.1_Intron	NM_005024.1	NP_005015.1			serpin peptidase inhibitor, clade B (ovalbumin), member 10											breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				ATGAGTGATGCCTTCAGCCAA	0.413000													17	30					0	0	0.000422831	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85432060	85432060	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:85432060G>A	ENST00000393217.2	+	2	167	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	36								p.E36Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TGCAAAATCAGAAACCCAGAG	0.378000													7	28					0	0	0.000442599	0	0
G6PC2	57818	broad.mit.edu	37	2	169764518	169764518	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:169764518C>T	ENST00000375363.3	+	5	1089	c.997C>T	c.(997-999)Cta>Tta	p.L333L	SPC25_ENST00000472216.2_Intron|G6PC2_ENST00000461586.1_3'UTR	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN	glucose-6-phosphatase, catalytic, 2	333					gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						ATCCATTCCCCTAACTGTGGT	0.423000													42	33					0	0	0.00222228	0	0
PCDHA12	56137	broad.mit.edu	37	5	140256947	140256947	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr5:140256947G>A	ENST00000398631.2	+	1	1890	c.1890G>A	c.(1888-1890)gaG>gaA	p.E630E	PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACACTGGCGAGATCAGCACGA	0.672000													31	14					0	0	0.00283554	0	0
PLA2G5	5322	broad.mit.edu	37	1	20412659	20412659	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:20412659G>C	ENST00000375108.3	+	3	392	c.124G>C	c.(124-126)Ggc>Cgc	p.G42R	PLA2G5_ENST00000486277.1_3'UTR	NM_000929.2	NP_000920.1	P39877	PA2G5_HUMAN	phospholipase A2, group V	42					lipid catabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity	p.G42S(1)		NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652)		GACAAACTACGGCTTCTACGG	0.567000													37	30					0	0	0.00195071	0	0
RCC1	1104	broad.mit.edu	37	1	28858478	28858478	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:28858478C>T	ENST00000373833.6	+	6	522	c.237C>T	c.(235-237)acC>acT	p.T79T	RCC1_ENST00000398958.2_Silent_p.T79T|RCC1_ENST00000373831.3_Silent_p.T110T|RCC1_ENST00000373832.1_Silent_p.T79T|RCC1_ENST00000429051.1_3'UTR			P18754	RCC1_HUMAN	regulator of chromosome condensation 1	79					cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		GCATGCACACCGTGTGTCTAA	0.612000													29	28					0	0	0.000692331	0	0
JRK	8629	broad.mit.edu	37	8	143745833	143745833	+	RNA	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr8:143745833G>A	ENST00000507178.2	-	0	1977									jerky homolog (mouse)													all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)				ACAGCCACCAGGGCCCTCCTG	0.677000													8	51					0	0	0.000442599	0	0
PARD3B	117583	broad.mit.edu	37	2	206480438	206480438	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:206480438G>A	ENST00000406610.2	+	23	3726	c.3519G>A	c.(3517-3519)caG>caA	p.Q1173Q	PARD3B_ENST00000351153.1_Silent_p.Q1104Q|PARD3B_ENST00000349953.3_Silent_p.Q1072Q|PARD3B_ENST00000488622.1_3'UTR|PARD3B_ENST00000358768.2_Silent_p.Q1111Q	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	1173					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CAGCCTATCAGGAAACAGGCA	0.622000													16	20					0	0	0.000422831	0	0
RSPRY1	89970	broad.mit.edu	37	16	57250944	57250944	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr16:57250944C>T	ENST00000537866.1	+	8	1771	c.898C>T	c.(898-900)Ctc>Ttc	p.L300F	RSPRY1_ENST00000394420.4_Missense_Mutation_p.L300F			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	300	B30.2/SPRY.					extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						CTTAGACAATCTCTGTAAGTG	0.428000													56	50					0	0	0.000781405	0	0
SLC17A9	63910	broad.mit.edu	37	20	61594002	61594002	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr20:61594002C>T	ENST00000370349.3	+	6	710	c.506C>T	c.(505-507)tCc>tTc	p.S169F	SLC17A9_ENST00000488738.1_3'UTR|SLC17A9_ENST00000370351.4_Missense_Mutation_p.S175F			Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	175					exocytosis|transmembrane transport	integral to membrane	transporter activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						GCGGTGGGCTCCCTGCTCCTG	0.637000													25	88					0	0	0.000720815	0	0
SREK1	140890	broad.mit.edu	37	5	65466564	65466564	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr5:65466564C>T	ENST00000334121.6	+	9	1432	c.1273C>T	c.(1273-1275)Cgg>Tgg	p.R425W	SREK1_ENST00000380918.3_Missense_Mutation_p.R309W|SREK1_ENST00000284041.3_3'UTR	NM_001077199.2|NM_001270492.1	NP_001070667.1|NP_001257421.1	Q8WXA9	SREK1_HUMAN	splicing regulatory glutamine/lysine-rich protein 1	309	Arg/Glu/Lys/Ser-rich.				mRNA processing|RNA splicing	spliceosomal complex	nucleic acid binding|nucleotide binding|protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)	9						GGAAAAGGACCGggaaaaaga	0.448000													11	4					0	0	0.000673444	0	0
EHD3	30845	broad.mit.edu	37	2	31483590	31483590	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:31483590C>T	ENST00000322054.5	+	4	1002	c.717C>T	c.(715-717)tcC>tcT	p.S239S	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	239					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					TCATGTGGTCCTTGGGGAAGA	0.592000													8	28					0	0	0.000157383	0	0
PPP1R15A	23645	broad.mit.edu	37	19	49377269	49377269	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:49377269G>A	ENST00000200453.5	+	2	1048	c.779G>A	c.(778-780)tGg>tAg	p.W260*		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	260	Glu-rich.				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		CCCAGGTCCTGGGAGTATCGT	0.562000													10	32					0	0	0.000673444	0	0
PCDHB10	56126	broad.mit.edu	37	5	140572167	140572167	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr5:140572167C>T	ENST00000239446.4	+	1	226	c.42C>T	c.(40-42)gtC>gtT	p.V14V		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		14					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAAGGCAAGTCCTGTTTCTTT	0.463000													93	72					0	0	0.000781405	0	0
DNAJC5	80331	broad.mit.edu	37	20	62559804	62559804	+	Splice_Site	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr20:62559804C>T	ENST00000360864.4	+	2	259	c.107_splice	c.e2+1	p.R36_splice	DNAJC5_ENST00000369911.2_Splice_Site_p.R36_splice	NM_025219.2	NP_079495.1	Q9H3Z4	DNJC5_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5	36	J.				neurotransmitter secretion|protein folding	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|melanosome|plasma membrane	heat shock protein binding|unfolded protein binding	p.R36W(1)		cervix(1)|endometrium(1)|lung(1)|pancreas(1)|upper_aerodigestive_tract(1)	5	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					AAAGTCCTATCGGTAAGTGGA	0.498000													28	33					0	0	0.001512	0	0
RP11-24M17.5	0	broad.mit.edu	37	15	76074702	76074702	+	RNA	SNP	G	G	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr15:76074702G>C	ENST00000395215.3	+	0	774																											CCGGTGGCAGGAGAGGATGTG	0.488000													4	45					0	0	0.00116845	0	0
TULP1	7287	broad.mit.edu	37	6	35480623	35480623	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr6:35480623C>T	ENST00000229771.6	-	1	92	c.13G>A	c.(13-15)Gat>Aat	p.D5N	TULP1_ENST00000322263.4_Missense_Mutation_p.D5N	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	5					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						AGGGTTTCATCCCGCAGAGGC	0.627000													25	45					0	0	0.00106085	0	0
DSC3	1825	broad.mit.edu	37	18	28584309	28584309	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr18:28584309G>A	ENST00000434452.1	-	13	2066	c.1912C>T	c.(1912-1914)Cag>Tag	p.Q638*	DSC3_ENST00000360428.4_Nonsense_Mutation_p.Q638*	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	638	Cadherin 5.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			GCATTTTTCTGATATGAAAGA	0.338000													45	53					0	0	0.00285205	0	0
PARP1	142	broad.mit.edu	37	1	226562022	226562022	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:226562022G>A	ENST00000366794.5	-	14	2118	c.1975C>T	c.(1975-1977)Cct>Tct	p.P659S		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	659					cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		TTGGTGCCAGGATTTACTGTC	0.453000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					54	12					0	0	0.000781405	0	0
WDR93	56964	broad.mit.edu	37	15	90280958	90280958	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr15:90280958G>C	ENST00000268130.7	+	15	1864	c.1763G>C	c.(1762-1764)cGa>cCa	p.R588P	WDR93_ENST00000560294.1_Missense_Mutation_p.R560P|WDR93_ENST00000444934.2_Missense_Mutation_p.R305P	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	588					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			TTCCTGCTCCGAGGTACAGAA	0.562000													18	14					0	0	0.000566183	0	0
AKR1B15	441282	broad.mit.edu	37	7	134254185	134254185	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:134254185G>A	ENST00000457545.2	+	5	599	c.339G>A	c.(337-339)gaG>gaA	p.E113E	AKR1B15_ENST00000423958.1_Silent_p.E85E	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	113							oxidoreductase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						CTTTCTTTGAGAGACCCCTTG	0.463000													64	53					0	0	0.000781405	0	0
PRKCA	5578	broad.mit.edu	37	17	64800119	64800119	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr17:64800119C>T	ENST00000413366.3	+	17	2009	c.1983C>T	c.(1981-1983)ccC>ccT	p.P661P		NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	protein kinase C, alpha	661	AGC-kinase C-terminal.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	ATGTCAACCCCCAGTTTGTGC	0.522000													20	76					0	0	0.00229938	0	0
UGT2B7	7364	broad.mit.edu	37	4	69962806	69962806	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr4:69962806C>T	ENST00000305231.7	+	1	614	c.568C>T	c.(568-570)Cct>Tct	p.P190S	UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000508661.1_Missense_Mutation_p.P190S	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	190					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ATTTATTTTCCCTCCTTCCTA	0.388000													36	61					0	0	0.00283554	0	0
AVIL	10677	broad.mit.edu	37	12	58203401	58203401	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:58203401C>T	ENST00000537081.1	-	8	896	c.897G>A	c.(895-897)caG>caA	p.Q299Q	AVIL_ENST00000257861.3_Silent_p.Q306Q			O75366	AVIL_HUMAN	advillin	306	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					ACATGGCTGCCTGTTTTTCAG	0.468000													17	47					0	0	0.00074312	0	0
TNNI1	7135	broad.mit.edu	37	1	201386941	201386941	+	Splice_Site	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:201386941C>T	ENST00000361379.4	-	2	74		c.e2-1		TNNI1_ENST00000336092.4_Splice_Site|TNNI1_ENST00000367312.1_Splice_Site|TNNI1_ENST00000555948.1_Splice_Site	NM_003281.3	NP_003272.3	P19237	TNNI1_HUMAN	troponin I type 1 (skeletal, slow)						muscle filament sliding|regulation of striated muscle contraction	cytosol|troponin complex	actin binding|tropomyosin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	8						GAGACAGCACCTAGGGGGCAC	0.592000													24	19					0	0	0.00127121	0	0
MROH8	140699	broad.mit.edu	37	20	35766354	35766354	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr20:35766354A>G	ENST00000400441.3	-	13	1507	c.1508T>C	c.(1507-1509)gTt>gCt	p.V503A	MROH8_ENST00000441008.2_Missense_Mutation_p.V489A|MROH8_ENST00000217333.8_Missense_Mutation_p.V332A					maestro heat-like repeat family member 8																		GGCACAGATAACTCCCATAAT	0.398000													7	20					0	0	0.000274275	0	0
CDSN	1041	broad.mit.edu	37	6	31084770	31084770	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr6:31084770C>A	ENST00000376288.2	-	2	648	c.622G>T	c.(622-624)Ggc>Tgc	p.G208C	PSORS1C1_ENST00000259881.9_Intron|PSORS1C1_ENST00000467107.1_3'UTR	NM_001264.4	NP_001255.3	Q15517	CDSN_HUMAN	corneodesmosin	208	Ser-rich.				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						ACGCTTTGGCCACTGCTGGAT	0.587000													13	94					3.32936e-07	1.45317e-06	0.00074312	1	0
AKAP11	11215	broad.mit.edu	37	13	42877958	42877958	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr13:42877958C>T	ENST00000025301.2	+	8	5251	c.5076C>T	c.(5074-5076)acC>acT	p.T1692T		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1692					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		CCACAGAAACCATGACAGCAG	0.463000													16	60					0	0	0.00074312	0	0
HK3	3101	broad.mit.edu	37	5	176311076	176311076	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr5:176311076G>A	ENST00000292432.5	-	14	2008	c.1917C>T	c.(1915-1917)gtC>gtT	p.V639V		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	639	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACAGACTCACGACATCTTGGC	0.602000													74	37					0	0	0.000781405	0	0
GCK	2645	broad.mit.edu	37	7	44191918	44191918	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:44191918G>A	ENST00000403799.3	-	3	784	c.315C>T	c.(313-315)caC>caT	p.H105H	GCK_ENST00000437084.1_Silent_p.H105H|GCK_ENST00000395796.3_Silent_p.H104H|GCK_ENST00000345378.2_Silent_p.H106H	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	105					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						AGTACATCTGGTGTTTGGTCT	0.632000													176	360					0	0	0.000781405	0	0
LAG3	3902	broad.mit.edu	37	12	6887035	6887035	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:6887035C>T	ENST00000203629.2	+	7	1712	c.1379C>T	c.(1378-1380)tCt>tTt	p.S460F		NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN	lymphocyte-activation gene 3	460						integral to membrane	antigen binding|MHC class II protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GGTGTCCTTTCTCTGCTCCTT	0.592000													27	89					0	0	0.001512	0	0
FAM120A	23196	broad.mit.edu	37	9	96323390	96323390	+	Splice_Site	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr9:96323390G>A	ENST00000277165.6	+	16	3000		c.e16-1		FAM120A_ENST00000340893.4_Splice_Site|FAM120A_ENST00000333936.5_Splice_Site	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A							cytoplasm|plasma membrane	RNA binding			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TTTTTATGCAGGAGTCCAACC	0.443000													17	51					0	0	0.000958276	0	0
KRT34	3885	broad.mit.edu	37	17	39537404	39537404	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr17:39537404C>T	ENST00000394001.1	-	3	648	c.618G>A	c.(616-618)agG>agA	p.R206R		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	206	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				CATCCAGGATCCTGCGTATGC	0.552000													32	34					0	0	0.0024448	0	0
ZNF257	113835	broad.mit.edu	37	19	22271596	22271596	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:22271596G>C	ENST00000594947.1	+	4	1188	c.1044G>C	c.(1042-1044)gaG>gaC	p.E348D		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	348					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				AATGTGAAGAGTGTGGCAAAG	0.408000													16	11					0	0	0.00152264	0	0
SYTL2	54843	broad.mit.edu	37	11	85436419	85436419	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr11:85436419G>A	ENST00000359152.5	-	1	2652	c.2653C>T	c.(2653-2655)Ccc>Tcc	p.P885S	SYTL2_ENST00000525423.1_Missense_Mutation_p.P361S|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000354566.3_Missense_Mutation_p.P361S|SYTL2_ENST00000316356.4_Intron	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	0					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		ATATCTTGGGGAGGGCTGGCC	0.478000													27	6					0	0	0.00106085	0	0
AXIN2	8313	broad.mit.edu	37	17	63545770	63545770	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr17:63545770T>C	ENST00000307078.5	-	3	1137	c.824A>G	c.(823-825)aAg>aGg	p.K275R	AXIN2_ENST00000375702.5_Missense_Mutation_p.K275R|CTD-2535L24.2_ENST00000577662.1_3'UTR	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN	axin 2	275					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			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						ATCGCTCCTCTTGAAGGACCT	0.517000									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				3	10					0	0	0.00024832	0	0
DQX1	165545	broad.mit.edu	37	2	74746338	74746338	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:74746338C>T	ENST00000404568.3	-	11	2045	c.1826G>A	c.(1825-1827)gGg>gAg	p.G609E	DQX1_ENST00000393951.2_Missense_Mutation_p.G609E	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	609						nucleus	ATP binding|helicase activity|nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						ATTTCCAGTCCCGTCTGTGTC	0.488000													8	26					0	0	0.000274275	0	0
ARHGAP19-SLIT1	100533184	broad.mit.edu	37	10	99023380	99023380	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr10:99023380C>G	ENST00000453547.2	-	4	409	c.410G>C	c.(409-411)cGa>cCa	p.R137P	ARHGAP19-SLIT1_ENST00000358308.3_Missense_Mutation_p.R137P|ARHGAP19_ENST00000358531.4_Missense_Mutation_p.R137P|ARHGAP19_ENST00000371027.1_Missense_Mutation_p.R128P|ARHGAP19_ENST00000355366.5_Missense_Mutation_p.R128P|ARHGAP19-SLIT1_ENST00000316676.8_Missense_Mutation_p.R137P																							ACCCTCTACTCGCAAGTCTGT	0.373000													29	13					0	0	0.00209593	0	0
MUC16	94025	broad.mit.edu	37	19	9046744	9046744	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:9046744C>T	ENST00000397910.4	-	5	35090	c.34887G>A	c.(34885-34887)ggG>ggA	p.G11629G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11631	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGTCACTACCCCTGGTATAC	0.522000													29	37					0	0	0.00106085	0	0
TRBV6-8	28599	broad.mit.edu	37	7	142124560	142124560	+	RNA	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:142124560G>A	ENST00000390376.2	-	0	5																											GGAGCCCGAGGCTCATGGCAG	0.597000													7	133					0	0	0.00198382	0	0
CUX1	1523	broad.mit.edu	37	7	101845040	101845040	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:101845040G>A	ENST00000360264.3	+	18	2516	c.2496G>A	c.(2494-2496)aaG>aaA	p.K832K	CUX1_ENST00000547394.2_Intron|CUX1_ENST00000546411.2_Silent_p.K719K|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Silent_p.K663K|CUX1_ENST00000549414.2_Silent_p.K799K|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000550008.2_Silent_p.K765K|CUX1_ENST00000292535.7_Silent_p.K821K|CUX1_ENST00000292538.4_Intron	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	821					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GTGCCTGGAAGGACCACTGGT	0.672000													8	26					0	0	0.000274275	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72205735	72205735	+	Splice_Site	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr14:72205735G>A	ENST00000555818.1	+	22	5620	c.5271_splice	c.e22-1	p.E1758_splice	SIPA1L1_ENST00000381232.3_Splice_Site_p.E1737_splice|SIPA1L1_ENST00000358550.2_Splice_Site_p.E1736_splice|SIPA1L1_ENST00000537413.1_Splice_Site_p.E1211_splice|SIPA1L1_ENST00000554874.1_3'UTR	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1758					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TGCCTCCCAGGAAAAAGAAGA	0.527000													11	19					0	0	0.000978159	0	0
MUSK	4593	broad.mit.edu	37	9	113449505	113449505	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr9:113449505G>A	ENST00000416899.2	+	3	441	c.315G>A	c.(313-315)gtG>gtA	p.V105V	MUSK_ENST00000374439.1_5'UTR|MUSK_ENST00000374448.4_Silent_p.V105V|MUSK_ENST00000189978.5_Silent_p.V105V|MUSK_ENST00000374440.3_5'UTR			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	105	Ig-like 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						ACAATGGTGTGGGAGGAGCTG	0.502000													96	113					0	0	0.000781405	0	0
ZNF670	93474	broad.mit.edu	37	1	247201092	247201092	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:247201092C>A	ENST00000366503.2	-	4	987	c.829G>T	c.(829-831)Gga>Tga	p.G277*		NM_001204220.1|NM_033213.4	NP_001191149.1|NP_149990.1	Q9BS34	ZN670_HUMAN	zinc finger protein 670	277					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00427)			GGTTTTTCTCCAGTATGCGTT	0.418000													6	147					0.00116845	0.00507574	0.00116845	1	0
ABCA13	154664	broad.mit.edu	37	7	48559759	48559759	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:48559759C>T	ENST00000435803.1	+	53	13944	c.13920C>T	c.(13918-13920)ttC>ttT	p.F4640F	ABCA13_ENST00000544596.1_Silent_p.F370F	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4640					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CCCACAACTTCGGCATTGATT	0.463000													23	49					0	0	0.00047179	0	0
DZIP1	22873	broad.mit.edu	37	13	96238390	96238390	+	Splice_Site	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr13:96238390C>T	ENST00000347108.3	-	19	2651	c.2218_splice	c.e19-1	p.G740_splice	DZIP1_ENST00000361156.3_Splice_Site_p.G721_splice|DZIP1_ENST00000361396.2_Splice_Site_p.G721_splice|DZIP1_ENST00000376829.2_Splice_Site_p.G740_splice			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	740					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			AACGGCGACTCCTATAAGATC	0.328000													17	34					0	0	0.000958276	0	0
FAM58A	92002	broad.mit.edu	37	X	152860083	152860083	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chrX:152860083G>A	ENST00000406277.2	-	5	447	c.345C>T	c.(343-345)ctC>ctT	p.L115L	FAM58A_ENST00000370175.4_5'UTR	NM_001130997.1|NM_152274.3	NP_001124469.1|NP_689487.2	Q8N1B3	FA58A_HUMAN	family with sequence similarity 58, member A	117					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGCTGTCCCGGAGTTCCCAGA	0.567000													32	2					0	0	0.0024448	0	0
ZNF208	7757	broad.mit.edu	37	19	22156988	22156988	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:22156988T>G	ENST00000397126.4	-	4	996	c.848A>C	c.(847-849)aAa>aCa	p.K283T	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTTGTTGGGTTTCTCTCCAGT	0.378000													12	16					0	0	0.000978159	0	0
RECQL5	9400	broad.mit.edu	37	17	73654435	73654435	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr17:73654435G>A	ENST00000420326.2	-	7	1251	c.1092C>T	c.(1090-1092)tcC>tcT	p.S364S	RECQL5_ENST00000340830.5_Silent_p.S364S|RECQL5_ENST00000423245.2_Silent_p.S337S|RECQL5_ENST00000317905.5_Silent_p.S364S|RECQL5_ENST00000584999.1_Silent_p.S364S	NM_001003715.3|NM_001003716.3	NP_001003715.1|NP_001003716.1	O94762	RECQ5_HUMAN	RecQ protein-like 5	364	Helicase C-terminal.				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			GGTCATTCCTGGAGTAATAGA	0.547000								Other identified genes with known or suspected DNA repair function					96	127					0	0	0.000781405	0	0
FERMT1	55612	broad.mit.edu	37	20	6088236	6088236	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr20:6088236C>T	ENST00000217289.4	-	6	1580	c.792G>A	c.(790-792)gaG>gaA	p.E264E	FERMT1_ENST00000536936.1_Silent_p.E7E	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	264	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						GCTGCTCATCCTCTTGGATGC	0.353000													25	36					0	0	0.001512	0	0
TTN	7273	broad.mit.edu	37	2	179425001	179425001	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:179425001C>T	ENST00000589042.1	-	326	86082	c.85858G>A	c.(85858-85860)Gaa>Aaa	p.E28620K	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E26979K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E19680K|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E19747K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E26052K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E19555K|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26979	Fibronectin type-III 108.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATTCATATTCACATCCTTCC	0.408000													18	40					0	0	0.00074312	0	0
SPAM1	6677	broad.mit.edu	37	7	123593820	123593820	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:123593820G>A	ENST00000340011.5	+	3	553	c.196G>A	c.(196-198)Gag>Aag	p.E66K	SPAM1_ENST00000460182.1_Missense_Mutation_p.E66K|SPAM1_ENST00000402183.2_Missense_Mutation_p.E66K|SPAM1_ENST00000439500.1_Missense_Mutation_p.E66K|SPAM1_ENST00000223028.7_Missense_Mutation_p.E66K	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	66					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	AAAATTTGATGAGCCACTAGA	0.438000													18	34					0	0	0.00074312	0	0
IRX5	10265	broad.mit.edu	37	16	54967445	54967445	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr16:54967445T>C	ENST00000394636.4	+	3	1449	c.1112T>C	c.(1111-1113)cTa>cCa	p.L371P	IRX5_ENST00000558597.1_Missense_Mutation_p.L305P|IRX5_ENST00000320990.5_Missense_Mutation_p.L370P|IRX5_ENST00000560154.1_Missense_Mutation_p.L151P			P78411	IRX5_HUMAN	iroquois homeobox 5	371					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						GGGCAAGCCCTAGGAGGCAGC	0.716000													6	16					0	0	0.00198382	0	0
TEX15	56154	broad.mit.edu	37	8	30704952	30704952	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr8:30704952C>T	ENST00000256246.2	-	1	1656	c.1582G>A	c.(1582-1584)Gaa>Aaa	p.E528K		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	528										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)		CTCAAAATTTCTATATTGTGG	0.318000													35	57					0	0	0.000814825	0	0
COBL	23242	broad.mit.edu	37	7	51096349	51096349	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:51096349G>A	ENST00000395542.2	-	12	2874	c.2690C>T	c.(2689-2691)tCg>tTg	p.S897L	COBL_ENST00000265136.7_Missense_Mutation_p.S815L			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	815										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CTGCTGGGGCGATATTGGCTT	0.657000													17	49					0	0	0.000566183	0	0
GLI3	2737	broad.mit.edu	37	7	42005859	42005859	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:42005859C>T	ENST00000395925.3	-	15	2896	c.2812G>A	c.(2812-2814)Gga>Aga	p.G938R	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	938					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GGCGGCCCTCCTGTGGCAGCC	0.726000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				20	29					0	0	0.00229938	0	0
ZNF485	220992	broad.mit.edu	37	10	44111922	44111922	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr10:44111922C>T	ENST00000361807.3	+	5	625	c.431C>T	c.(430-432)tCc>tTc	p.S144F	ZNF485_ENST00000374437.2_Missense_Mutation_p.S53F|ZNF485_ENST00000374435.3_Missense_Mutation_p.S144F	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	144					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						TACAATTCGTCCTTTATTAGC	0.418000													29	11					0	0	0.00106085	0	0
UVSSA	57654	broad.mit.edu	37	4	1360165	1360165	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr4:1360165C>T	ENST00000389851.4	+	8	1681	c.1234C>T	c.(1234-1236)Cct>Tct	p.P412S	UVSSA_ENST00000507531.1_Missense_Mutation_p.P412S|UVSSA_ENST00000511563.1_5'UTR|UVSSA_ENST00000511216.1_Missense_Mutation_p.P412S	NM_020894.2	NP_065945.2	Q2YD98	K1530_HUMAN	UV-stimulated scaffold protein A	412																	TGTGGAGGTCCCTGAGAAGGA	0.607000													64	125					0	0	0.000781405	0	0
TTN	7273	broad.mit.edu	37	2	179439291	179439291	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:179439291G>C	ENST00000589042.1	-	326	71792	c.71568C>G	c.(71566-71568)agC>agG	p.S23856R	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S22215R|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S14916R|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S14983R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S21288R|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S14791R|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22215	Fibronectin type-III 73.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTAAAATGGGGCTTCCACCAT	0.433000													20	53					0	0	0.000958276	0	0
ACACB	32	broad.mit.edu	37	12	109660625	109660625	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:109660625C>T	ENST00000338432.7	+	26	3819	c.3700C>T	c.(3700-3702)Ccc>Tcc	p.P1234S	ACACB_ENST00000377848.3_Missense_Mutation_p.P1234S|ACACB_ENST00000377854.5_Missense_Mutation_p.P1164S			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1234					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	CTCCCACCTCCCCTCCTACGA	0.647000													9	21					0	0	0.00244969	0	0
TENC1	23371	broad.mit.edu	37	12	53449591	53449591	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:53449591C>T	ENST00000314250.6	+	10	1013	c.723C>T	c.(721-723)atC>atT	p.I241I	TENC1_ENST00000379902.3_Silent_p.I117I|TENC1_ENST00000314276.3_Silent_p.I251I|TENC1_ENST00000552570.1_Silent_p.I241I|TENC1_ENST00000451358.1_Silent_p.I241I|TENC1_ENST00000546602.1_Silent_p.I241I|TENC1_ENST00000549700.1_Silent_p.I241I	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	241	Phosphatase tensin-type.				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						TTGGGGTCATCGTTTCTGCCT	0.597000													71	52					0	0	0.000781405	0	0
NXF5	55998	broad.mit.edu	37	X	101096040	101096040	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chrX:101096040C>T	ENST00000537026.1	-	8	787	c.428G>A	c.(427-429)cGa>cAa	p.R143Q	NXF5_ENST00000473265.2_Missense_Mutation_p.R143Q|NXF5_ENST00000361708.2_Missense_Mutation_p.R143Q	NM_032946.2	NP_116564.2	Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	143					mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	p.R143Q(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						GCAGTTTCTTCGATTCAGGAT	0.522000													63	85					0	0	0.000781405	0	0
MROH7	374977	broad.mit.edu	37	1	55167774	55167774	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:55167774C>T	ENST00000414150.2	+	20	3575	c.3297C>T	c.(3295-3297)gtC>gtT	p.V1099V	MROH7_ENST00000421030.2_Silent_p.V1099V|MROH7_ENST00000454855.2_Silent_p.V617V|MROH7_ENST00000409996.1_Silent_p.V667V					maestro heat-like repeat family member 7																		CACGAGAGGTCGTGCGCTCCT	0.612000													5	19					0	0	0.00198382	0	0
PNPLA6	10908	broad.mit.edu	37	19	7607900	7607900	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:7607900C>T	ENST00000221249.6	+	16	1852	c.1421C>T	c.(1420-1422)tCc>tTc	p.S474F	PNPLA6_ENST00000600737.1_Missense_Mutation_p.S513F|PNPLA6_ENST00000414982.3_Missense_Mutation_p.S522F|PNPLA6_ENST00000450331.3_Missense_Mutation_p.S474F|PNPLA6_ENST00000545201.2_Intron	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	513					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						CAGGACCCCTCCCTCCTGAAC	0.657000													20	16					0	0	0.00121646	0	0
CASP3	836	broad.mit.edu	37	4	185552973	185552973	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr4:185552973G>A	ENST00000308394.4	-	6	691	c.429C>T	c.(427-429)ttC>ttT	p.F143F	CASP3_ENST00000517513.1_Silent_p.F143F|CASP3_ENST00000523916.1_Silent_p.F143F|CASP3_ENST00000393585.2_Silent_p.F143F|CASP3_ENST00000393588.4_Silent_p.F143F	NM_004346.3	NP_004337.2	P42574	CASP3_HUMAN	caspase 3, apoptosis-related cysteine peptidase	143					activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|negative regulation of apoptosis|nerve growth factor receptor signaling pathway|nuclear fragmentation involved in apoptotic nuclear change|proteolysis|response to tumor necrosis factor	cytosol|mitochondrion|nucleoplasm|plasma membrane	cysteine-type endopeptidase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592)		all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161)	Melatonin(DB01065)|Minocycline(DB01017)|Simvastatin(DB00641)	GATCCCCTCTGAAAAAGTTTG	0.373000													62	56					0	0	0.000781405	0	0
GRM8	2918	broad.mit.edu	37	7	126544086	126544086	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:126544086G>A	ENST00000339582.2	-	5	1766	c.958C>T	c.(958-960)Cag>Tag	p.Q320*	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Nonsense_Mutation_p.Q320*|GRM8_ENST00000444921.2_Nonsense_Mutation_p.Q320*|GRM8_ENST00000405249.1_Nonsense_Mutation_p.Q320*			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	320					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TCCTCTTGCTGATAGACAGGT	0.423000										HNSCC(24;0.065)			33	69					0	0	0.000781405	0	0
TDP2	51567	broad.mit.edu	37	6	24654655	24654655	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr6:24654655G>A	ENST00000341060.3	-	4	842	c.447C>T	c.(445-447)aaC>aaT	p.N149N	TDP2_ENST00000378198.4_Silent_p.N207N|TDP2_ENST00000545995.1_Silent_p.N237N|TDP2_ENST00000478285.1_5'UTR			O95551	TYDP2_HUMAN	tyrosyl-DNA phosphodiesterase 2	207					cell surface receptor linked signaling pathway|double-strand break repair	PML body	5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity			kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						CACATAAAAGGTTTCTCATCA	0.264000								Direct reversal of damage					16	76					0	0	0.000958276	0	0
A2M	2	broad.mit.edu	37	12	9232411	9232411	+	Splice_Site	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:9232411C>T	ENST00000318602.7	-	24	3162	c.2854_splice	c.e24-1	p.G952_splice	A2M_ENST00000542567.1_5'UTR	NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	952					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	TAATATGTCTCCTAGAGAATG	0.388000													12	7					0	0	0.000308642	0	0
LAMB4	22798	broad.mit.edu	37	7	107674720	107674720	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:107674720C>T	ENST00000388781.3	-	31	4834	c.4751G>A	c.(4750-4752)gGa>gAa	p.G1584E	LAMB4_ENST00000483484.1_5'UTR|LAMB4_ENST00000205386.4_Missense_Mutation_p.G1584E|LAMB4_ENST00000388780.3_Missense_Mutation_p.G1584E	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1584	Domain I.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GTTTGCCCGTCCTTGAGTGAT	0.333000													90	67					0	0	0.000781405	0	0
ZNF276	92822	broad.mit.edu	37	16	89789687	89789687	+	Splice_Site	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr16:89789687C>T	ENST00000568064.1	+	4	622	c.331_splice	c.e4-1	p.A111_splice	ZNF276_ENST00000443381.2_Silent_p.S192S|ZNF276_ENST00000289816.5_Silent_p.S117S|ZNF276_ENST00000446326.2_5'UTR			Q8N554	ZN276_HUMAN	zinc finger protein 276	192	ZAD.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		TCACATCCAGCCCCCAGTGCC	0.652000													18	16					0	0	0.000958276	0	0
GPR98	84059	broad.mit.edu	37	5	89924546	89924546	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr5:89924546T>C	ENST00000405460.2	+	8	1502	c.1406T>C	c.(1405-1407)cTt>cCt	p.L469P		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	469	Calx-beta 4.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ACAATTCCTCTTACTGTGGTT	0.483000													31	88					0	0	0.00058488	0	0
ATP2C2	9914	broad.mit.edu	37	16	84488460	84488460	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr16:84488460G>A	ENST00000416219.2	+	21	2106	c.2017G>A	c.(2017-2019)Ggg>Agg	p.G673R	ATP2C2_ENST00000262429.4_Missense_Mutation_p.G673R|ATP2C2_ENST00000420010.2_3'UTR			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	673					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GGCCATGACTGGGGATGGGGT	0.622000													28	20					0	0	0.00058488	0	0
GABRG3	2567	broad.mit.edu	37	15	27572117	27572117	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr15:27572117C>T	ENST00000333743.6	+	4	686	c.432C>T	c.(430-432)atC>atT	p.I144I	GABRG3_ENST00000555083.1_Silent_p.I144I	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	144					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		CTCACTGGATCACCACACCCA	0.448000													27	19					0	0	0.000720815	0	0
MPP7	143098	broad.mit.edu	37	10	28409268	28409268	+	Missense_Mutation	SNP	G	G	A	rs34411482		TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr10:28409268G>A	ENST00000337532.5	-	11	1018	c.742C>T	c.(742-744)Cca>Tca	p.P248S	MPP7_ENST00000540098.1_Missense_Mutation_p.P248S|MPP7_ENST00000375719.3_Missense_Mutation_p.P248S|MPP7_ENST00000375732.1_Missense_Mutation_p.P248S|MPP7_ENST00000445954.2_Missense_Mutation_p.P123S	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	248	SH3.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TCCTTACATGGAATTGCCTTA	0.363000													43	56					0	0	0.000781405	0	0
CER1	9350	broad.mit.edu	37	9	14720328	14720328	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr9:14720328C>T	ENST00000380911.3	-	2	608	c.564G>A	c.(562-564)ggG>ggA	p.G188G		NM_005454.2	NP_005445.1	O95813	CER1_HUMAN	cerberus 1, DAN family BMP antagonist	188	CTCK.				BMP signaling pathway	extracellular space	cytokine activity			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		ACCCGCATTTCCCAAAGCAAA	0.448000													24	9					0	0	0.00047179	0	0
OR4E2	26686	broad.mit.edu	37	14	22133973	22133973	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr14:22133973G>A	ENST00000408935.1	+	1	677	c.677G>A	c.(676-678)cGa>cAa	p.R226Q		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		GTTTCTCTTCGAAAACACTCA	0.502000													22	27					0	0	0.00188189	0	0
MTMR8	55613	broad.mit.edu	37	X	63551549	63551549	+	Missense_Mutation	SNP	G	G	A	rs139002441	byFrequency	TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chrX:63551549G>A	ENST00000374852.3	-	11	1307	c.1240C>T	c.(1240-1242)Ccc>Tcc	p.P414S	MTMR8_ENST00000453546.1_Intron|MTMR8_ENST00000478487.1_5'UTR	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	414	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						AAGGCACAGGGAAACTGTTCC	0.463000													23	7					0	0	0.00278032	0	0
BRAF	673	broad.mit.edu	37	7	140501337	140501337	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:140501337T>G	ENST00000288602.6	-	6	795	c.735A>C	c.(733-735)ttA>ttC	p.L245F		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	245			L -> F (in CFC syndrome).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	CACAAAATGCTAAGGTGAAAA	0.373000		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				17	17					0	0	0.000566183	0	0
SRRM2	23524	broad.mit.edu	37	16	2815759	2815759	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr16:2815759C>T	ENST00000301740.8	+	11	5779	c.5230C>T	c.(5230-5232)Cga>Tga	p.R1744*		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1744	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GTCTTCACGCCGACGGCGCTC	0.602000													11	33					0	0	0.00136819	0	0
FAM71A	149647	broad.mit.edu	37	1	212798411	212798411	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:212798411C>T	ENST00000294829.3	+	1	623	c.192C>T	c.(190-192)aaC>aaT	p.N64N	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	64										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		ATGTGCACAACCGTGTCCGTA	0.522000													114	10					0	0	0.000781405	0	0
ATP13A4	84239	broad.mit.edu	37	3	193153533	193153533	+	Splice_Site	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr3:193153533C>T	ENST00000342695.4	-	24	2995	c.2672_splice	c.e24-1	p.K891_splice	ATP13A4_ENST00000392443.3_Splice_Site_p.K872_splice	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	891					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CACGTCCTTCCCTGTGTAAGA	0.398000													81	10					0	0	0.000781405	0	0
DMXL2	23312	broad.mit.edu	37	15	51792261	51792261	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr15:51792261T>G	ENST00000251076.5	-	18	3447	c.3160A>C	c.(3160-3162)Atg>Ctg	p.M1054L	DMXL2_ENST00000543779.2_Missense_Mutation_p.M1054L|DMXL2_ENST00000449909.3_Intron	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1054						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TCATCATTCATCAAAGGCCAT	0.403000													10	32					0	0	0.000442599	0	0
MAPK4	5596	broad.mit.edu	37	18	48190390	48190390	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr18:48190390T>G	ENST00000400384.2	+	2	1098	c.62T>G	c.(61-63)gTt>gGt	p.V21G	MAPK4_ENST00000540640.1_Intron|MAPK4_ENST00000592595.1_Missense_Mutation_p.V21G|MAPK4_ENST00000588540.1_Missense_Mutation_p.V21G	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	21	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		GGGCGCTTTGTTGACTTCCAA	0.597000													41	71					0	0	0.0025221	0	0
KLHL20	27252	broad.mit.edu	37	1	173703101	173703101	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:173703101C>T	ENST00000209884.4	+	3	409	c.273C>T	c.(271-273)ccC>ccT	p.P91P	KLHL20_ENST00000493170.1_3'UTR|KLHL20_ENST00000546011.1_Intron	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	91	BTB.				cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						CCTGTAGTCCCTACTTCCGAG	0.478000													18	74					0	0	0.000958276	0	0
TTN	7273	broad.mit.edu	37	2	179605327	179605327	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:179605327C>T	ENST00000589042.1	-	48	12857	c.12633G>A	c.(12631-12633)ggG>ggA	p.G4211G	TTN_ENST00000591111.1_Silent_p.G3894G|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Silent_p.G3973G|TTN_ENST00000342175.6_Silent_p.G4040G|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.G3848G|TTN-AS1_ENST00000582847.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3894							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGGATAATTCCCTTCAGGTT	0.383000													15	59					0	0	0.000422831	0	0
EXOC3	11336	broad.mit.edu	37	5	462278	462278	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr5:462278C>T	ENST00000512944.1	+	9	1698	c.1509C>T	c.(1507-1509)tcC>tcT	p.S503S	EXOC3_ENST00000315013.5_Silent_p.S503S	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	514					exocytosis|protein transport					breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GCAGGGAATCCATAGTCAGTT	0.562000													22	16					0	0	0.00188189	0	0
RBFOX1	54715	broad.mit.edu	37	16	7568259	7568259	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr16:7568259C>T	ENST00000340209.4	+	2	450	c.153C>T	c.(151-153)ccC>ccT	p.P51P	RBFOX1_ENST00000535565.2_Silent_p.P82P|RBFOX1_ENST00000550418.1_Silent_p.P46P|RBFOX1_ENST00000552089.1_Silent_p.P82P|RBFOX1_ENST00000355637.4_Silent_p.P66P|RBFOX1_ENST00000547372.1_Silent_p.P89P|RBFOX1_ENST00000311745.5_Silent_p.P66P|RBFOX1_ENST00000547338.1_Silent_p.P46P|RBFOX1_ENST00000436368.2_Silent_p.P66P|RBFOX1_ENST00000422070.4_Silent_p.P89P|RBFOX1_ENST00000553186.1_Silent_p.P46P			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	46					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			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						CCCCTCATCCCCACCCCGCGC	0.652000													25	72					0	0	0.00127121	0	0
C4orf22	255119	broad.mit.edu	37	4	81884751	81884751	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr4:81884751C>T	ENST00000358105.3	+	6	736	c.687C>T	c.(685-687)tcC>tcT	p.S229S	C4orf22_ENST00000508675.1_Silent_p.S246S	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	229										NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						ACCACATTTCCAGAAGGAAGA	0.343000													20	48					0	0	0.00121646	0	0
SERTAD4	56256	broad.mit.edu	37	1	210415306	210415306	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:210415306C>T	ENST00000367012.3	+	4	925	c.695C>T	c.(694-696)tCt>tTt	p.S232F	SERTAD4_ENST00000490620.1_3'UTR	NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	232	Ser-rich.						protein binding			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)		tcctcttcctctccccctTTG	0.488000													46	38					0	0	0.00285205	0	0
GCK	2645	broad.mit.edu	37	7	44191917	44191917	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:44191917G>A	ENST00000403799.3	-	3	785	c.316C>T	c.(316-318)Cag>Tag	p.Q106*	GCK_ENST00000437084.1_Nonsense_Mutation_p.Q106*|GCK_ENST00000395796.3_Nonsense_Mutation_p.Q105*|GCK_ENST00000345378.2_Nonsense_Mutation_p.Q107*	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	106					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						GAGTACATCTGGTGTTTGGTC	0.632000													175	357					0	0	0.000781405	0	0
GPR115	221393	broad.mit.edu	37	6	47675986	47675986	+	Silent	SNP	A	A	G			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr6:47675986A>G	ENST00000283303.2	+	3	378	c.120A>G	c.(118-120)gaA>gaG	p.E40E	GPR115_ENST00000371220.1_Silent_p.E97E|GPR115_ENST00000327753.3_Silent_p.E40E	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	40					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						AAAGCCCTGAAGGGAAACCCA	0.448000													17	29					0	0	0.00152264	0	0
ZHX2	22882	broad.mit.edu	37	8	123964338	123964338	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr8:123964338C>T	ENST00000314393.4	+	3	1423	c.588C>T	c.(586-588)gcC>gcT	p.A196A		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	196	Required for homodimerization.					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			AAGCGGATGCCAAGAAGGTGC	0.577000													25	143					0	0	0.000720815	0	0
MTMR7	9108	broad.mit.edu	37	8	17206511	17206511	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr8:17206511C>T	ENST00000180173.5	-	5	582	c.548G>A	c.(547-549)cGg>cAg	p.R183Q	MTMR7_ENST00000523571.1_5'UTR|MTMR7_ENST00000521857.1_Missense_Mutation_p.R183Q	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	183	Myotubularin phosphatase.						protein tyrosine phosphatase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		CCGTCTACTCCGGAATTTGGA	0.423000													79	97					0	0	0.000781405	0	0
COL5A2	1290	broad.mit.edu	37	2	189916152	189916152	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:189916152C>T	ENST00000374866.3	-	42	3099	c.2825G>A	c.(2824-2826)gGt>gAt	p.G942D		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	942					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCCACGAAGACCTGGAGGTCC	0.617000													8	20					0	0	0.000274275	0	0
MIER2	54531	broad.mit.edu	37	19	307350	307350	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:307350G>T	ENST00000264819.4	-	13	1395	c.1385C>A	c.(1384-1386)cCg>cAg	p.P462Q		NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	462					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCTGGCTCCGGAGCAGTGAC	0.677000													11	11					1.08611e-07	4.74621e-07	0.000978159	1	0
MYH1	4619	broad.mit.edu	37	17	10404786	10404786	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr17:10404786C>T	ENST00000226207.5	-	27	3473	c.3379G>A	c.(3379-3381)Gag>Aag	p.E1127K	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1127						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CGCTCTGCCTCGATTTCCTCC	0.542000													32	19					0	0	0.0024448	0	0
SEMA5B	54437	broad.mit.edu	37	3	122632719	122632719	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr3:122632719C>T	ENST00000195173.4	-	15	2421	c.2118G>A	c.(2116-2118)aaG>aaA	p.K706K	SEMA5B_ENST00000357599.3_Silent_p.K706K|SEMA5B_ENST00000451055.2_Silent_p.K760K			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	706	TSP type-1 1.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CCTCCCGGCTCTTGCCCACGC	0.672000													67	14					0	0	0.000781405	0	0
LINC00477	144360	broad.mit.edu	37	12	24736653	24736653	+	RNA	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:24736653G>A	ENST00000483544.1	-	0	449					NR_029451.2																						GCTCAGTGGGGAAGGAGGGTG	0.562000													38	37					0	0	0.00222228	0	0
TTN	7273	broad.mit.edu	37	2	179615606	179615606	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:179615606C>T	ENST00000360870.5	-	46	11743	c.11521G>A	c.(11521-11523)Gaa>Aaa	p.E3841K	TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9676							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCCATAATTTCTTCCAGCTGT	0.378000													40	27					0	0	0.00148497	0	0
CTSV	1515	broad.mit.edu	37	9	99798970	99798970	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr9:99798970G>A	ENST00000259470.5	-	5	705	c.456C>T	c.(454-456)ttC>ttT	p.F152F	CTSV_ENST00000538255.1_Silent_p.F152F	NM_001333.3	NP_001324.2			cathepsin V																		CAGTTTTCCGGAACATCTGTC	0.473000													98	76					0	0	0.000781405	0	0
IGJ	3512	broad.mit.edu	37	4	71522094	71522094	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr4:71522094G>A	ENST00000254801.4	-	4	601	c.432C>T	c.(430-432)acC>acT	p.T144T	ENAM_ENST00000472903.1_Intron|IGJ_ENST00000543780.1_Silent_p.T160T	NM_144646.3	NP_653247.1	P01591	IGJ_HUMAN	immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides	144					immune response	extracellular region	antigen binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7			Lung(101;0.235)			CCACCATTTTGGTCTCACCAC	0.448000													38	39					0	0	0.00222228	0	0
KRT71	112802	broad.mit.edu	37	12	52940176	52940176	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:52940176C>T	ENST00000267119.5	-	7	1288	c.1219G>A	c.(1219-1221)Gag>Aag	p.E407K		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	407	Coil 2.|Rod.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		CGCGCCAGCTCCTCCTTGGCC	0.652000													24	22					0	0	0.00229938	0	0
HOXC5	3222	broad.mit.edu	37	12	54427019	54427019	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:54427019A>T	ENST00000312492.2	+	1	383	c.113A>T	c.(112-114)tAc>tTc	p.Y38F	HOXC5_ENST00000512206.1_Intron|HOXC4_ENST00000303406.4_Intron	NM_018953.2	NP_061826.1	Q00444	HXC5_HUMAN	homeobox C5	38					regulation of transcription from RNA polymerase II promoter	cell junction|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(2)|urinary_tract(1)	12						GCATCCAGGTACTGCTACGGC	0.557000													30	30					0	0	0.00209593	0	0
RP1	6101	broad.mit.edu	37	8	55540307	55540307	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr8:55540307G>A	ENST00000220676.1	+	4	4013	c.3865G>A	c.(3865-3867)Gat>Aat	p.D1289N		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1289					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTATGGTGTGGATCAGACTTC	0.408000													77	121					0	0	0.000781405	0	0
CD163L1	283316	broad.mit.edu	37	12	7596704	7596704	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:7596704G>A	ENST00000313599.3	-	1	77	c.20C>T	c.(19-21)tCg>tTg	p.S7L	CD163L1_ENST00000416109.2_Missense_Mutation_p.S7L|CD163L1_ENST00000396630.1_Missense_Mutation_p.S7L			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	7						extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AATATGCCACGAGTTTTGAGG	0.378000													14	43					0	0	0.000422831	0	0
SLC12A5	57468	broad.mit.edu	37	20	44678350	44678350	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr20:44678350G>A	ENST00000454036.1	+	17	2247	c.2171G>A	c.(2170-2172)gGg>gAg	p.G724E	SLC12A5_ENST00000243964.3_Missense_Mutation_p.G701E	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	724					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CTGAAGGCGGGGAAGGGCCTG	0.617000													10	14					0	0	0.000673444	0	0
ABCC9	10060	broad.mit.edu	37	12	21967600	21967600	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:21967600G>A	ENST00000261200.4	-	33	4079	c.4080C>T	c.(4078-4080)ttC>ttT	p.F1360F	ABCC9_ENST00000345162.2_Silent_p.F1324F|ABCC9_ENST00000261201.4_Silent_p.F1360F	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1360	ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CAACCATTCTGAAGAAAGCCA	0.403000													8	31					0	0	0.000274275	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													5	48					0	0	0.00116845	0	0
SLITRK1	114798	broad.mit.edu	37	13	84455231	84455231	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr13:84455231C>T	ENST00000377084.2	-	1	1297	c.412G>A	c.(412-414)Gat>Aat	p.D138N		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	138						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		AAATTAAAATCAGCCTGGAGA	0.463000													69	63					0	0	0.000781405	0	0
SCN5A	6331	broad.mit.edu	37	3	38592250	38592250	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr3:38592250C>T	ENST00000413689.1	-	28	5806	c.5613G>A	c.(5611-5613)ctG>ctA	p.L1871L	SCN5A_ENST00000425664.1_Silent_p.L1853L|SCN5A_ENST00000443581.1_Silent_p.L1870L|SCN5A_ENST00000449557.2_Silent_p.L1817L|SCN5A_ENST00000414099.2_Silent_p.L1853L|SCN5A_ENST00000451551.2_Silent_p.L1817L|SCN5A_ENST00000423572.2_Silent_p.L1870L|SCN5A_ENST00000450102.2_Silent_p.L1817L|SCN5A_ENST00000455624.2_Silent_p.L1838L|SCN5A_ENST00000333535.4_Silent_p.L1871L	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1871					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TCTGGATCTTCAGGGCGTCCA	0.582000													112	18					0	0	0.000781405	0	0
OR2Z1	284383	broad.mit.edu	37	19	8841397	8841397	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:8841397G>A	ENST00000324060.2	+	1	82	c.7G>A	c.(7-9)Gat>Aat	p.D3N		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AAACATGGGGGATGTGAATCA	0.498000													16	21					0	0	0.000566183	0	0
FOXP1	27086	broad.mit.edu	37	3	71161711	71161711	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr3:71161711C>T	ENST00000318789.4	-	7	783	c.258G>A	c.(256-258)agG>agA	p.R86R	FOXP1_ENST00000484350.1_Silent_p.R86R|FOXP1_ENST00000498215.1_Silent_p.R86R|FOXP1_ENST00000475937.1_Silent_p.R86R|FOXP1_ENST00000493089.1_Silent_p.R86R|FOXP1_ENST00000468577.1_Silent_p.R86R|FOXP1_ENST00000491238.1_Silent_p.R88R	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	86	Gln-rich.				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		GTTTGTCATTCCTCTTGGGAG	0.413000			T	PAX5	ALL								122	22					0	0	0.000781405	0	0
LTN1	26046	broad.mit.edu	37	21	30332977	30332977	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr21:30332977C>T	ENST00000361371.4	-	12	2365	c.2215G>A	c.(2215-2217)Gat>Aat	p.D739N	LTN1_ENST00000389194.2_Missense_Mutation_p.D785N	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	739							ligase activity|zinc ion binding			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						CCAAGGATATCGCCTTTGAGC	0.383000													7	15					0	0	0.000442599	0	0
PKD1L2	114780	broad.mit.edu	37	16	81208372	81208372	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr16:81208372C>T	ENST00000599697.1	-	16	2730	c.2731G>A	c.(2731-2733)Gaa>Aaa	p.E911K	PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000527937.1_RNA|PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000531391.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2	911	REJ.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CCCTGGCTTTCATGCTCTTGG	0.607000													4	12					0	0	0.00116845	0	0
DSP	1832	broad.mit.edu	37	6	7584759	7584759	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr6:7584759G>A	ENST00000379802.3	+	24	7605	c.7264G>A	c.(7264-7266)Gaa>Aaa	p.E2422K	DSP_ENST00000418664.2_Missense_Mutation_p.E1823K	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2422	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CAACACTGAAGAAAATCTTAC	0.403000													99	59					0	0	0.000781405	0	0
COL15A1	1306	broad.mit.edu	37	9	101777809	101777809	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr9:101777809C>T	ENST00000375001.3	+	10	1887	c.1464C>T	c.(1462-1464)ccC>ccT	p.P488P		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	488	4 X tandem repeats.|Nonhelical region 1 (NC1).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GCCTGGCTCCCCTCACAGCCA	0.567000													21	21					0	0	0.00278032	0	0
MUC16	94025	broad.mit.edu	37	19	8993038	8993038	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:8993038G>A	ENST00000397910.4	-	67	41924	c.41721C>T	c.(41719-41721)ttC>ttT	p.F13907F	MUC16_ENST00000380951.5_Silent_p.F548F	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13910	SEA 12.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCCGATGGGTGAAACCTGCAC	0.527000													12	51					0	0	0.000422831	0	0
OBSCN	84033	broad.mit.edu	37	1	228401966	228401966	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:228401966C>T	ENST00000570156.2	+	4	1424	c.1350C>T	c.(1348-1350)ccC>ccT	p.P450P	OBSCN_ENST00000284548.11_Silent_p.P450P|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Silent_p.P450P	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	450	Ig-like 5.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			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)				CGGTGGGCCCCGTCCACTGGC	0.697000													66	51					0	0	0.000781405	0	0
RALGPS1	9649	broad.mit.edu	37	9	129958901	129958901	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr9:129958901C>T	ENST00000259351.5	+	13	1453	c.1186C>T	c.(1186-1188)Ctc>Ttc	p.L396F	RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000373434.1_Intron	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	396					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						CACCAATGGACTCTCCCTAGG	0.612000													62	65					0	0	0.000781405	0	0
RBBP6	5930	broad.mit.edu	37	16	24566945	24566945	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr16:24566945C>T	ENST00000319715.4	+	5	790	c.358C>T	c.(358-360)Ctg>Ttg	p.L120L	RBBP6_ENST00000348022.2_Silent_p.L120L|RBBP6_ENST00000381039.3_Silent_p.L120L	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	120					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		GACTGCCAATCTGGCTGAAGC	0.373000													52	52					0	0	0.000781405	0	0
OR8B3	390271	broad.mit.edu	37	11	124266884	124266884	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr11:124266884G>A	ENST00000354597.3	-	1	380	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GCCACATAGCGATCATATGCC	0.408000													10	2					0	0	0.000442599	0	0
RGS22	26166	broad.mit.edu	37	8	100999713	100999713	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr8:100999713G>A	ENST00000360863.6	-	21	3347	c.3153C>T	c.(3151-3153)ctC>ctT	p.L1051L	RGS22_ENST00000523287.1_Silent_p.L870L|RGS22_ENST00000523437.1_Silent_p.L1039L	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	1051	RGS 2.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CTTGCCAAAAGAGTAAACCAT	0.323000													22	77					0	0	0.00188189	0	0
MYO5B	4645	broad.mit.edu	37	18	47527697	47527697	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr18:47527697G>A	ENST00000285039.7	-	5	839	c.540C>T	c.(538-540)ttC>ttT	p.F180F		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	180	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CAACGGTGGCGAAATAGCGCA	0.532000													69	73					0	0	0.000781405	0	0
IL31RA	133396	broad.mit.edu	37	5	55212490	55212490	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr5:55212490G>A	ENST00000396834.1	+	17	2276	c.1780G>A	c.(1780-1782)Gag>Aag	p.E594K	IL31RA_ENST00000490985.1_Missense_Mutation_p.E471K|IL31RA_ENST00000354961.4_Missense_Mutation_p.E594K|IL31RA_ENST00000447346.2_Missense_Mutation_p.E613K|IL31RA_ENST00000359040.5_Missense_Mutation_p.E613K	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	581					anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				AAACCTGAAGGAGTCTGATGA	0.443000													27	74					0	0	0.000720815	0	0
GLI3	2737	broad.mit.edu	37	7	42005858	42005858	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:42005858C>T	ENST00000395925.3	-	15	2897	c.2813G>A	c.(2812-2814)gGa>gAa	p.G938E	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	938					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CGGCGGCCCTCCTGTGGCAGC	0.721000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				20	30					0	0	0.00229938	0	0
MLLT1	4298	broad.mit.edu	37	19	6270714	6270714	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:6270714G>A	ENST00000252674.7	-	2	232	c.69C>T	c.(67-69)ccC>ccT	p.P23P		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	23	YEATS.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						CCTCCGTGGTGGGCTTCTTGC	0.617000			T	MLL	AL						OREG0025198	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	13					0	0	0.000978159	0	0
ZNF276	92822	broad.mit.edu	37	16	89789688	89789688	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr16:89789688C>T	ENST00000289816.5	+	4	664	c.352C>T	c.(352-354)Ccc>Tcc	p.P118S	ZNF276_ENST00000443381.2_Missense_Mutation_p.P193S|ZNF276_ENST00000446326.2_5'UTR|ZNF276_ENST00000568064.1_Splice_Site_p.A111_splice	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN	zinc finger protein 276	193	ZAD.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CACATCCAGCCCCCAGTGCCT	0.657000													18	15					0	0	0.000958276	0	0
CPXM1	56265	broad.mit.edu	37	20	2776787	2776787	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr20:2776787C>T	ENST00000380605.2	-	10	1327	c.1263G>A	c.(1261-1263)tgG>tgA	p.W421*		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	421					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GGCCCTCGGCCCAGCCCACCA	0.602000													20	55					0	0	0.00121646	0	0
ABCC2	1244	broad.mit.edu	37	10	101578963	101578963	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr10:101578963G>A	ENST00000370449.4	+	19	2670	c.2557G>A	c.(2557-2559)Gga>Aga	p.G853R		NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	853	ABC transporter 1.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GGCCAAAAAAGGAGAGTTTGC	0.438000													51	12					0	0	0.000781405	0	0
ZNF609	23060	broad.mit.edu	37	15	64915245	64915245	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr15:64915245G>A	ENST00000326648.3	+	2	1095	c.967G>A	c.(967-969)Gaa>Aaa	p.E323K		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	323						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCAGGAAACAGAAGATGGTAA	0.512000													10	43					0	0	0.000673444	0	0
SEC61A2	55176	broad.mit.edu	37	10	12200002	12200002	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr10:12200002C>T	ENST00000379033.3	+	8	954	c.807C>T	c.(805-807)atC>atT	p.I269I	SEC61A2_ENST00000298428.9_Silent_p.I291I|SEC61A2_ENST00000304267.8_Silent_p.I291I|SEC61A2_ENST00000379020.4_Intron|SEC61A2_ENST00000495368.1_3'UTR	NM_001142628.1	NP_001136100.1	Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)	291						endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				ACATCCCCATCATCCTCCAGT	0.483000													420	85					0	0	0.000781405	0	0
TRGV4	6977	broad.mit.edu	37	7	38393474	38393474	+	RNA	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:38393474G>A	ENST00000390345.2	-	0	529																											TCATAGTACAGAAGACGCTGT	0.498000													12	47					0	0	0.00185496	0	0
THRAP3	9967	broad.mit.edu	37	1	36754862	36754862	+	Silent	SNP	C	C	G			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:36754862C>G	ENST00000354618.5	+	5	1466	c.1242C>G	c.(1240-1242)ctC>ctG	p.L414L	THRAP3_ENST00000469141.2_Silent_p.L414L	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	414					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGTATAAGCTCCGAGATGACT	0.438000			T	USP6	aneurysmal bone cysts								38	34					0	0	0.000814825	0	0
C4orf21	55345	broad.mit.edu	37	4	113505255	113505255	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr4:113505255G>A	ENST00000505019.1	-	15	4302	c.4177C>T	c.(4177-4179)Cca>Tca	p.P1393S		NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	0										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		GAATATCCTGGAGTCACGTCC	0.383000													24	38					0	0	0.00278032	0	0
ABCC6	368	broad.mit.edu	37	16	16276311	16276311	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr16:16276311C>T	ENST00000205557.7	-	17	2234	c.2205G>A	c.(2203-2205)gtG>gtA	p.V735V	ABCC6_ENST00000574094.1_Intron	NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	735	ABC transporter 1.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		GGAAGCTGTCCACATCTGGCT	0.557000													26	19					0	0	0.001512	0	0
GPATCH8	23131	broad.mit.edu	37	17	42475476	42475476	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr17:42475476G>A	ENST00000434000.1	-	9	4017	c.3735C>T	c.(3733-3735)ctC>ctT	p.L1245L	GPATCH8_ENST00000591680.1_Silent_p.L1323L			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1323						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		CAGCCTGCTGGAGCTTGCTGT	0.597000													29	24					0	0	0.000878237	0	0
SMARCC2	6601	broad.mit.edu	37	12	56568535	56568535	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:56568535G>A	ENST00000394023.3	-	16	1501	c.1396C>T	c.(1396-1398)Cga>Tga	p.R466*	SMARCC2_ENST00000550164.1_Nonsense_Mutation_p.R466*|SMARCC2_ENST00000347471.4_Nonsense_Mutation_p.R466*|SMARCC2_ENST00000267064.4_Nonsense_Mutation_p.R466*|RP11-977G19.5_ENST00000553176.1_RNA	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	466	SWIRM.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			ATAAAGTTTCGATAGGCCAGG	0.428000													67	49					0	0	0.000781405	0	0
TBX19	9095	broad.mit.edu	37	1	168260457	168260457	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:168260457C>T	ENST00000367821.3	+	2	314	c.263C>T	c.(262-264)tCc>tTc	p.S88F		NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	88					anatomical structure morphogenesis	nucleus	DNA binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					GCCATGTACTCCCTCCTGCTG	0.552000													58	61					0	0	0.000781405	0	0
CASZ1	54897	broad.mit.edu	37	1	10719783	10719783	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:10719783G>A	ENST00000377022.3	-	6	1633	c.1316C>T	c.(1315-1317)aCc>aTc	p.T439I	CASZ1_ENST00000344008.5_Missense_Mutation_p.T439I	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	439					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GGTCCCCGTGGTGATGGAGTC	0.632000													23	44					0	0	0.00278032	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50431573	50431573	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr3:50431573G>A	ENST00000435965.1	-	4	605	c.432C>T	c.(430-432)ttC>ttT	p.F144F	CACNA2D2_ENST00000429770.1_Silent_p.F144F|CACNA2D2_ENST00000424201.2_Silent_p.F144F|CACNA2D2_ENST00000423994.2_Silent_p.F144F|CACNA2D2_ENST00000395083.1_Silent_p.F144F|CACNA2D2_ENST00000360963.3_Silent_p.F75F|CACNA2D2_ENST00000266039.3_Silent_p.F144F|CACNA2D2_ENST00000479441.1_Silent_p.F144F			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	144					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	GTGCTTTCTGGAAGTTCTCTG	0.592000													19	7					0	0	0.00229938	0	0
MARC1	64757	broad.mit.edu	37	1	220970049	220970049	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:220970049T>C	ENST00000366910.5	+	3	700	c.514T>C	c.(514-516)Ttc>Ctc	p.F172L	MARC1_ENST00000496110.1_3'UTR	NM_022746.3	NP_073583.3	Q5VT66	MOSC1_HUMAN	mitochondrial amidoxime reducing component 1	172							molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding										GATAACCAGCTTCCTGAAGTC	0.602000													9	57					0	0	0.000442599	0	0
HDAC1	3065	broad.mit.edu	37	1	32796199	32796199	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:32796199G>A	ENST00000373548.3	+	8	834	c.750G>A	c.(748-750)gaG>gaA	p.E250E	HDAC1_ENST00000490081.1_3'UTR|HDAC1_ENST00000373541.2_Silent_p.E57E	NM_004964.2	NP_004955.2	Q13547	HDAC1_HUMAN	histone deacetylase 1	250	Histone deacetylase.				anti-apoptosis|blood coagulation|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|histone H3 deacetylation|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of androgen receptor signaling pathway|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytosol|NuRD complex|Sin3 complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|identical protein binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|RNA polymerase II transcription corepressor activity|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18		Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113)		KIRC - Kidney renal clear cell carcinoma(1967;0.138)	Vorinostat(DB02546)	AAGTAATGGAGATGTTCCAGC	0.478000													33	114					0	0	0.00111076	0	0
UPF1	5976	broad.mit.edu	37	19	18943081	18943081	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:18943081C>T	ENST00000262803.5	+	1	335	c.63C>T	c.(61-63)gcC>gcT	p.A21A	UPF1_ENST00000599848.1_Silent_p.A21A	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	21	Sufficient for interaction with RENT2.				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CGGAGGAGGCCGAGCTGCTTG	0.701000													26	27					0	0	0.00178596	0	0
TFRC	7037	broad.mit.edu	37	3	195782033	195782033	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr3:195782033T>C	ENST00000360110.4	-	17	1986	c.1817A>G	c.(1816-1818)gAa>gGa	p.E606G	TFRC_ENST00000535031.1_Missense_Mutation_p.E324G|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000420415.1_Missense_Mutation_p.E525G|TFRC_ENST00000392396.3_Missense_Mutation_p.E606G	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	606	Ligand-binding.				cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		CAGGTTCAATTCAACATCATG	0.443000			T	BCL6	NHL								157	19					0	0	0.000781405	0	0
GDF3	9573	broad.mit.edu	37	12	7848116	7848116	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:7848116A>G	ENST00000329913.3	-	1	256	c.209T>C	c.(208-210)tTa>tCa	p.L70S		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	70					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TACGTAGCATAAGTCTCGGGA	0.507000													12	40					0	0	0.00185496	0	0
SCP2	6342	broad.mit.edu	37	1	53443971	53443971	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:53443971G>A	ENST00000371514.3	+	9	925	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K	SCP2_ENST00000371509.4_Missense_Mutation_p.E209K|SCP2_ENST00000473584.1_3'UTR|SCP2_ENST00000407246.2_Missense_Mutation_p.E229K|SCP2_ENST00000528311.1_Missense_Mutation_p.E172K|SCP2_ENST00000371513.5_Missense_Mutation_p.E209K	NM_002979.4	NP_002970.2	P22307	NLTP_HUMAN	sterol carrier protein 2	253					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport	mitochondrion|nucleus|peroxisomal matrix	propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						CAAAGCTGTGGAAATTTTGGC	0.368000													18	46					0	0	0.00121646	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50431574	50431574	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr3:50431574A>T	ENST00000435965.1	-	4	604	c.431T>A	c.(430-432)tTc>tAc	p.F144Y	CACNA2D2_ENST00000429770.1_Missense_Mutation_p.F144Y|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.F144Y|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.F144Y|CACNA2D2_ENST00000395083.1_Missense_Mutation_p.F144Y|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.F75Y|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.F144Y|CACNA2D2_ENST00000479441.1_Missense_Mutation_p.F144Y			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	144					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	TGCTTTCTGGAAGTTCTCTGC	0.587000													19	7					0	0	0.00229938	0	0
CACNA1S	779	broad.mit.edu	37	1	201046244	201046244	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:201046244G>A	ENST00000362061.3	-	12	1857	c.1631C>T	c.(1630-1632)tCg>tTg	p.S544L	CACNA1S_ENST00000367338.3_Missense_Mutation_p.S544L	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	544					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GTTGCTCAGCGACGTCCAATA	0.607000													61	4					0	0	0.000781405	0	0
ATP13A5	344905	broad.mit.edu	37	3	192993046	192993046	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr3:192993046C>T	ENST00000342358.4	-	30	3559	c.3442G>A	c.(3442-3444)Gaa>Aaa	p.E1148K	ATP13A5_ENST00000495496.1_5'UTR	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	1148					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		AATCCAAATTCTCTTTTGATC	0.413000													44	60					0	0	0.000781405	0	0
TXNDC16	57544	broad.mit.edu	37	14	52957711	52957711	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr14:52957711C>T	ENST00000281741.4	-	10	1140	c.769G>A	c.(769-771)Gaa>Aaa	p.E257K	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	257					cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					TGAGGATCTTCAGCAACTTCA	0.333000													9	12					0	0	0.000978159	0	0
UNC5CL	222643	broad.mit.edu	37	6	41001787	41001787	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr6:41001787G>A	ENST00000244565.3	-	3	607	c.519C>T	c.(517-519)ttC>ttT	p.F173F	UNC5CL_ENST00000373164.1_Silent_p.F173F	NM_173561.2	NP_775832.2	Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	173	ZU5.				signal transduction	cytoplasm|integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					AAGGCTTCAGGAAGGAGGCCC	0.617000													7	44					0	0	0.000157383	0	0
ABCA13	154664	broad.mit.edu	37	7	48335455	48335455	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:48335455G>T	ENST00000435803.1	+	21	9138	c.9114G>T	c.(9112-9114)ttG>ttT	p.L3038F		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3038					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AGCAGCACTTGTACATGTATG	0.483000													85	202					3.99045e-58	1.76699e-57	0.000781405	1	0
MUC16	94025	broad.mit.edu	37	19	9046745	9046745	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:9046745C>T	ENST00000397910.4	-	5	35089	c.34886G>A	c.(34885-34887)gGg>gAg	p.G11629E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11631	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTCACTACCCCTGGTATACT	0.517000													29	36					0	0	0.00106085	0	0
SALL3	27164	broad.mit.edu	37	18	76754784	76754784	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr18:76754784C>T	ENST00000536229.3	+	1	3103	c.2394C>T	c.(2392-2394)atC>atT	p.I798I	SALL3_ENST00000537592.2_Silent_p.I931I|SALL3_ENST00000575389.2_Silent_p.I931I			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	944				DDDMDE -> NDNLDK (in Ref. 2; CAB65124).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CCCAGGAAATCCCGCTCAAGA	0.746000													3	10					0	0	6.4e-05	0	0
SLC6A10P	386757	broad.mit.edu	37	16	32890622	32890622	+	RNA	SNP	T	T	G			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr16:32890622T>G	ENST00000330048.5	-	0	3176					NR_003083.2																						CGTTGGTGTTTTTGTAGACCA	0.617000													3	17					0	0	6.4e-05	0	0
ARID3B	10620	broad.mit.edu	37	15	74865202	74865202	+	Splice_Site	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr15:74865202G>A	ENST00000346246.5	+	3	783		c.e3-1			NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						TTCCCTTTTAGAATGGTGGTT	0.458000													7	33					0	0	0.000157383	0	0
ARID5B	84159	broad.mit.edu	37	10	63851157	63851157	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr10:63851157C>T	ENST00000279873.7	+	10	2345	c.1935C>T	c.(1933-1935)acC>acT	p.T645T	ARID5B_ENST00000309334.5_Silent_p.T402T	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	645					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					TCAAGCAGACCCCAAAGGTCC	0.532000													12	4					0	0	0.000978159	0	0
CECR2	27443	broad.mit.edu	37	22	18022035	18022035	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr22:18022035C>T	ENST00000262608.8	+	15	2140	c.2140C>T	c.(2140-2142)Cct>Tct	p.P714S	CECR2_ENST00000400573.4_Missense_Mutation_p.P713S|CECR2_ENST00000400585.2_Missense_Mutation_p.P572S	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	755					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AGGATTCATTCCTCCCCGGCA	0.562000													8	11					0	0	0.000274275	0	0
OR10G2	26534	broad.mit.edu	37	14	22102916	22102916	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr14:22102916C>T	ENST00000542433.1	-	1	180	c.83G>A	c.(82-84)aGa>aAa	p.R28K		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		GAGGAGGCTTCTTAGATTTGG	0.493000													31	32					0	0	0.00209593	0	0
CLSTN2	64084	broad.mit.edu	37	3	140265495	140265495	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr3:140265495C>T	ENST00000458420.3	+	10	1836	c.1646C>T	c.(1645-1647)tCc>tTc	p.S549F		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	549					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	p.S549F(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GACATTAATTCCTTGGAAAGC	0.552000										HNSCC(16;0.037)			36	3					0	0	0.00128727	0	0
MCTP1	79772	broad.mit.edu	37	5	94353135	94353135	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr5:94353135G>A	ENST00000515393.1	-	2	773	c.774C>T	c.(772-774)ccC>ccT	p.P258P	MCTP1_ENST00000312216.8_Silent_p.P37P|MCTP1_ENST00000429576.2_Silent_p.P37P|MCTP1_ENST00000505208.1_Silent_p.P37P	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	258	C2 1.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		GGTACATTCCGGGATCAGCCA	0.383000													91	58					0	0	0.000781405	0	0
PAK7	57144	broad.mit.edu	37	20	9624776	9624776	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr20:9624776C>T	ENST00000378429.3	-	4	747	c.201G>A	c.(199-201)atG>atA	p.M67I	PAK7_ENST00000353224.5_Missense_Mutation_p.M67I|PAK7_ENST00000378423.1_Missense_Mutation_p.M67I	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	67	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			ACCATACCTTCATAGGAGCCA	0.498000													21	64					0	0	0.00152264	0	0
NPC1L1	29881	broad.mit.edu	37	7	44578652	44578652	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:44578652C>T	ENST00000289547.4	-	2	1399	c.1344G>A	c.(1342-1344)caG>caA	p.Q448Q	NPC1L1_ENST00000381160.3_Silent_p.Q448Q|NPC1L1_ENST00000546276.1_Silent_p.Q448Q|NPC1L1_ENST00000423141.1_Silent_p.Q448Q	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	448					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GCAGCCTCTCCTGCAGCTCTA	0.602000													19	24					0	0	0.000958276	0	0
A2ML1	144568	broad.mit.edu	37	12	8982346	8982346	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:8982346G>A	ENST00000299698.7	+	4	613	c.433G>A	c.(433-435)Gat>Aat	p.D145N	A2ML1-AS1_ENST00000537288.1_RNA	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	0						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TGTCACCATGGATAGCAACTT	0.438000													23	68					0	0	0.000720815	0	0
C4orf22	255119	broad.mit.edu	37	4	81866034	81866034	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr4:81866034C>T	ENST00000358105.3	+	5	596	c.547C>T	c.(547-549)Cca>Tca	p.P183S	C4orf22_ENST00000508675.1_Missense_Mutation_p.P200S	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	183										NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						TGCCGATAATCCAGAAGGCTT	0.328000													37	52					0	0	0.000814825	0	0
ATXN3L	92552	broad.mit.edu	37	X	13337364	13337364	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chrX:13337364C>T	ENST00000380622.2	-	1	1154	c.690G>A	c.(688-690)caG>caA	p.Q230Q	GS1-600G8.3_ENST00000431486.1_RNA	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	230					protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						CAAGGGCCCTCTGAAAATCCT	0.413000													222	40					0	0	0.000781405	0	0
ATP6V1G3	127124	broad.mit.edu	37	1	198492686	198492686	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:198492686G>A	ENST00000367381.1	-	5	315	c.210C>T	c.(208-210)ggC>ggT	p.G70G	ATP6V1G3_ENST00000281087.2_Silent_p.G64G|ATP6V1G3_ENST00000309309.7_3'UTR|ATP6V1G3_ENST00000489986.1_Silent_p.G70G|ATP6V1G3_ENST00000367382.1_Silent_p.G64G			Q96LB4	VATG3_HUMAN	ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3	64					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex	ATPase binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	7						TATTCTGAGAGCCCATTATCT	0.333000													43	3					0	0	0.000781405	0	0
THOC2	57187	broad.mit.edu	37	X	122767863	122767863	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chrX:122767863C>T	ENST00000245838.8	-	20	2108	c.2077G>A	c.(2077-2079)Gag>Aag	p.E693K	THOC2_ENST00000491737.1_Missense_Mutation_p.E578K|THOC2_ENST00000355725.4_Missense_Mutation_p.E693K	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	693					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						GTCATTTCCTCTGTAATTTCT	0.333000													58	12					0	0	0.000781405	0	0
FAM83E	54854	broad.mit.edu	37	19	49116419	49116419	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:49116419C>T	ENST00000263266.3	-	1	400	c.211G>A	c.(211-213)Gct>Act	p.A71T		NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	71										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)		CAGTCTTCAGCTGCCGCTGCC	0.667000													21	24					0	0	0.000720815	0	0
MKS1	54903	broad.mit.edu	37	17	56293562	56293562	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr17:56293562G>A	ENST00000393119.2	-	4	378	c.304C>T	c.(304-306)Cct>Tct	p.P102S	MKS1_ENST00000537529.2_Missense_Mutation_p.P92S|MKS1_ENST00000313863.6_Missense_Mutation_p.P102S|MKS1_ENST00000546108.1_5'UTR|MKS1_ENST00000337050.7_Missense_Mutation_p.P102S	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	102					cilium assembly	centrosome|cilium|microtubule basal body	protein binding			endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TAATCCAAAGGACTCTGACAG	0.403000													72	40					0	0	0.000781405	0	0
COL5A1	1289	broad.mit.edu	37	9	137707809	137707809	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr9:137707809G>A	ENST00000371817.3	+	52	4511	c.4097G>A	c.(4096-4098)gGa>gAa	p.G1366E		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1366	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			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)		GGTGACAAAGGAGATGATGGT	0.567000													19	22					0	0	0.00152264	0	0
RHBDF1	64285	broad.mit.edu	37	16	108679	108679	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr16:108679C>T	ENST00000262316.6	-	18	2370	c.2228G>A	c.(2227-2229)cGg>cAg	p.R743Q		NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	743					cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				ACGCCAGGGCCGCGCCAGGAT	0.622000													12	29					0	0	0.000978159	0	0
CD93	22918	broad.mit.edu	37	20	23064944	23064944	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr20:23064944G>A	ENST00000246006.4	-	1	2033	c.1886C>T	c.(1885-1887)tCc>tTc	p.S629F		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	629					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TGGAACCCAGGAGTAACTGTC	0.627000													100	104					0	0	0.000781405	0	0
MYF5	4617	broad.mit.edu	37	12	81111198	81111198	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:81111198C>T	ENST00000228644.3	+	1	508	c.356C>T	c.(355-357)cCc>cTc	p.P119L		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	119	Helix-loop-helix motif.				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						CAGAGGCTGCCCAAGGTGGAG	0.587000													14	37					0	0	0.00244969	0	0
TRAJ7	28748	broad.mit.edu	37	14	23006596	23006596	+	RNA	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr14:23006596G>A	ENST00000390530.1	+	0	30																											CTCGCTTTTGGGAAGGGGAAC	0.522000													10	36					0	0	0.000978159	0	0
LILRA5	353514	broad.mit.edu	37	19	54823302	54823302	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:54823302C>T	ENST00000301219.3	-	4	360	c.241G>A	c.(241-243)Gag>Aag	p.E81K	LILRA5_ENST00000432233.3_Missense_Mutation_p.E81K|AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000346508.3_Missense_Mutation_p.E69K|LILRA5_ENST00000446712.3_Missense_Mutation_p.E69K	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	81	Ig-like C2-type 1.				innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGCTTCCCTCTTTAACCAGA	0.592000													56	75					0	0	0.000781405	0	0
GJC1	10052	broad.mit.edu	37	17	42883090	42883090	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr17:42883090C>T	ENST00000426548.1	-	3	365	c.96G>A	c.(94-96)cgG>cgA	p.R32R	GJC1_ENST00000330514.4_Silent_p.R32R|GJC1_ENST00000590758.1_Silent_p.R32R|GJC1_ENST00000592524.1_Silent_p.R32R	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	32					cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane				NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				TAAGGACGATCCGGAAGACAA	0.478000													14	39					0	0	0.00185496	0	0
PRDM10	56980	broad.mit.edu	37	11	129814858	129814858	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr11:129814858G>A	ENST00000358825.5	-	6	801	c.570C>T	c.(568-570)ggC>ggT	p.G190G	PRDM10_ENST00000528746.1_Silent_p.G164G|PRDM10_ENST00000423662.2_Silent_p.G104G|PRDM10_ENST00000304538.6_Silent_p.G104G|PRDM10_ENST00000526082.1_Silent_p.G104G|PRDM10_ENST00000360871.3_Silent_p.G190G	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		GGTGCAAGGGGCCGTGCTTCG	0.587000													20	3					0	0	0.00121646	0	0
IGSF5	150084	broad.mit.edu	37	21	41173213	41173213	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr21:41173213C>T	ENST00000380588.4	+	9	1256	c.1153C>T	c.(1153-1155)Cca>Tca	p.P385S		NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	385						integral to membrane|tight junction				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				TCCACCCAGGCCAGCAAGTCA	0.468000													24	6					0	0	0.001512	0	0
APLP1	333	broad.mit.edu	37	19	36369819	36369819	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:36369819C>T	ENST00000221891.4	+	15	1870	c.1678C>T	c.(1678-1680)Cct>Tct	p.P560S	APLP1_ENST00000586861.1_Missense_Mutation_p.P553S|APLP1_ENST00000537454.2_Missense_Mutation_p.P520S	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	559					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AAGGGGTTTCCCTTTCCACTC	0.587000													39	38					0	0	0.00195071	0	0
PBRM1	55193	broad.mit.edu	37	3	52702643	52702643	+	Nonsense_Mutation	SNP	A	A	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr3:52702643A>C	ENST00000356770.4	-	3	257	c.255T>G	c.(253-255)taT>taG	p.Y85*	PBRM1_ENST00000296302.7_Nonsense_Mutation_p.Y85*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.Y85*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.Y85*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.Y85*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.Y85*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.Y85*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.Y85*			Q86U86	PB1_HUMAN	polybromo 1	85	Bromo 1.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			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)		AAACCACTTCATAATAGTCTG	0.299000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								34	9					0	0	0.00058488	0	0
MCM6	4175	broad.mit.edu	37	2	136630274	136630274	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:136630274A>G	ENST00000264156.2	-	2	307	c.247T>C	c.(247-249)Ttc>Ctc	p.F83L		NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	83					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	TACCTATAGAACTCCTCTTGA	0.428000													13	40					0	0	0.00185496	0	0
ABCA13	154664	broad.mit.edu	37	7	48335456	48335456	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:48335456T>G	ENST00000435803.1	+	21	9139	c.9115T>G	c.(9115-9117)Tac>Gac	p.Y3039D		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3039					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GCAGCACTTGTACATGTATGC	0.488000													84	202					0	0	0.000781405	0	0
KIF22	3835	broad.mit.edu	37	16	29810978	29810978	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr16:29810978C>T	ENST00000561482.1	+	7	1453	c.816C>T	c.(814-816)atC>atT	p.I272I	KIF22_ENST00000563263.1_3'UTR|KIF22_ENST00000400750.2_5'UTR|KIF22_ENST00000400751.5_Silent_p.I272I|KIF22_ENST00000569382.2_Silent_p.I272I|KIF22_ENST00000160827.4_Silent_p.I340I	NM_001256270.1	NP_001243199.1	Q14807	KIF22_HUMAN	kinesin family member 22	340	Kinesin-motor.				blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						CCCACAGTATCCTTATTGCCA	0.557000													19	9					0	0	0.00152264	0	0
MARCH6	10299	broad.mit.edu	37	5	10405676	10405676	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr5:10405676C>T	ENST00000274140.5	+	16	1471	c.1339C>T	c.(1339-1341)Cga>Tga	p.R447*	MARCH6_ENST00000510792.1_Nonsense_Mutation_p.R145*|MARCH6_ENST00000503788.1_Nonsense_Mutation_p.R342*|MARCH6_ENST00000449913.2_Nonsense_Mutation_p.R399*	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	447					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						GCAGGTACTTCGACCTGGTGT	0.328000													10	51					0	0	0.00136819	0	0
PALM2	114299	broad.mit.edu	37	9	112694228	112694228	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr9:112694228C>T	ENST00000448454.2	+	7	422	c.422C>T	c.(421-423)tCc>tTc	p.S141F	AKAP2_ENST00000510514.5_Missense_Mutation_p.S139F|PALM2_ENST00000374531.2_Intron|PALM2_ENST00000483909.1_Intron|PALM2_ENST00000314527.4_Missense_Mutation_p.S139F|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.S139F|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.S139F|AKAP2_ENST00000555236.1_Missense_Mutation_p.S139F					paralemmin 2											breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						TACATTTCCTCCCAGCTTCCC	0.542000													74	193					0	0	0.000781405	0	0
R3HDM2	22864	broad.mit.edu	37	12	57662112	57662112	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:57662112G>A	ENST00000402412.1	-	18	2394	c.2004C>T	c.(2002-2004)atC>atT	p.I668I	R3HDM2_ENST00000347140.3_Silent_p.I654I|R3HDM2_ENST00000546843.1_5'UTR|R3HDM2_ENST00000403821.2_Silent_p.I688I|R3HDM2_ENST00000413953.2_Silent_p.I381I|R3HDM2_ENST00000393811.2_Silent_p.I381I|R3HDM2_ENST00000358907.2_Silent_p.I654I|RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000441731.2_Silent_p.I349I			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	654	Gln-rich.					nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						GAGCAGGTGGGATCATGCTAT	0.567000													12	33					0	0	0.00185496	0	0
BNC1	646	broad.mit.edu	37	15	83932427	83932427	+	Missense_Mutation	SNP	C	C	T	rs149687703		TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr15:83932427C>T	ENST00000345382.2	-	4	1661	c.1576G>A	c.(1576-1578)Gaa>Aaa	p.E526K	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.E519K	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	526					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						AATGGCATTTCGTTTGAAATG	0.488000													40	28					0	0	0.00148497	0	0
DBF4B	80174	broad.mit.edu	37	17	42828218	42828218	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr17:42828218C>T	ENST00000315005.3	+	14	1583	c.1445C>T	c.(1444-1446)tCc>tTc	p.S482F	DBF4B_ENST00000393547.2_Intron	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 homolog B (S. cerevisiae)	482					cell cycle	nucleus	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				CAAGAAAACTCCTTTGCCCCG	0.587000													32	30					0	0	0.00058488	0	0
ING2	3622	broad.mit.edu	37	4	184432048	184432048	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr4:184432048T>A	ENST00000302327.3	+	2	988	c.786T>A	c.(784-786)aaT>aaA	p.N262K	ING2_ENST00000434682.2_Missense_Mutation_p.N222K	NM_001564.2	NP_001555.1	Q9H160	ING2_HUMAN	inhibitor of growth family, member 2	262					chromatin modification|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of growth|signal transduction|transcription, DNA-dependent	CCAAT-binding factor complex|Sin3 complex	chromatin binding|DNA binding|protein complex binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	7		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|all_hematologic(60;0.0207)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		GGGGAGATAATGAGAAAACAA	0.353000													14	24					0	0	0.00185496	0	0
IGKV1D-8	28904	broad.mit.edu	37	2	90259991	90259991	+	RNA	SNP	T	T	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:90259991T>C	ENST00000471857.1	+	0	275																											GTCTCCATCCTTACTCTCTGC	0.428000													17	52					0	0	0.000958276	0	0
IGHV3OR16-9	28307	broad.mit.edu	37	16	32077597	32077597	+	RNA	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr16:32077597C>T	ENST00000354689.6	+	0	212				RP11-1166P10.6_ENST00000566806.1_RNA																							TTCACCATCTCCAGGGACAAC	0.512000													105	300					0	0	0.000781405	0	0
TMEM248	55069	broad.mit.edu	37	7	66413654	66413654	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:66413654C>T	ENST00000341567.4	+	4	824	c.569C>T	c.(568-570)gCc>gTc	p.A190V		NM_017994.4	NP_060464.1			transmembrane protein 248																		ACCCTCACGGCCAGCCCTGGG	0.597000													18	22					0	0	0.00121646	0	0
SLC8A1	6546	broad.mit.edu	37	2	40656001	40656001	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:40656001C>T	ENST00000406785.1	-	2	1609	c.1420G>A	c.(1420-1422)Gaa>Aaa	p.E474K	SLC8A1_ENST00000542024.1_Missense_Mutation_p.E474K|SLC8A1_ENST00000405269.1_Missense_Mutation_p.E474K|SLC8A1_ENST00000403092.1_Missense_Mutation_p.E474K|SLC8A1_ENST00000402441.1_Missense_Mutation_p.E474K|SLC8A1_ENST00000332839.4_Missense_Mutation_p.E474K|SLC8A1_ENST00000542756.1_Missense_Mutation_p.E474K|SLC8A1_ENST00000406391.2_Missense_Mutation_p.E474K|SLC8A1_ENST00000408028.2_Missense_Mutation_p.E474K|SLC8A1_ENST00000405901.3_Missense_Mutation_p.E474K			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	474	Calx-beta 1.				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	ACTCTGATTTCCTTCTGGGTA	0.408000													9	32					0	0	0.000274275	0	0
TRIM49	57093	broad.mit.edu	37	11	89531552	89531552	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr11:89531552C>T	ENST00000329758.1	-	8	1433	c.1105G>A	c.(1105-1107)Gag>Aag	p.E369K	TRIM49_ENST00000532501.2_Missense_Mutation_p.E292K	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49	369	B30.2/SPRY.					intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TCTATCTTCTCATTCTGATTC	0.433000													25	14					0	0	0.00106085	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68140256	68140256	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr8:68140256C>T	ENST00000262215.3	-	25	3922	c.3533G>A	c.(3532-3534)gGa>gAa	p.G1178E	ARFGEF1_ENST00000518230.1_Missense_Mutation_p.G16E|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.G632E	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1178					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TCTTATTCTTCCCATGTTGTA	0.328000													9	78					0	0	0.000442599	0	0
ANO2	57101	broad.mit.edu	37	12	5963294	5963294	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:5963294C>T	ENST00000356134.5	-	4	607	c.536G>A	c.(535-537)gGa>gAa	p.G179E	ANO2_ENST00000327087.8_Missense_Mutation_p.G179E|ANO2_ENST00000546188.1_Missense_Mutation_p.G179E	NM_001278596.1|NM_001278597.1	NP_001265525.1|NP_001265526.1	Q9NQ90	ANO2_HUMAN	anoctamin 2	183						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						AAAGATGGATCCCTGGCTTTT	0.453000													132	82					0	0	0.000781405	0	0
NLRP4	147945	broad.mit.edu	37	19	56369580	56369580	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:56369580C>T	ENST00000301295.6	+	3	1243	c.821C>T	c.(820-822)tCc>tTc	p.S274F	NLRP4_ENST00000346986.5_Missense_Mutation_p.S274F|NLRP4_ENST00000587891.1_Missense_Mutation_p.S199F	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	274	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CCGGAGGCCTCCCTGCTCATC	0.567000													23	45					0	0	0.00278032	0	0
WBSCR28	135886	broad.mit.edu	37	7	73280093	73280093	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:73280093G>A	ENST00000320531.2	+	3	724	c.688G>A	c.(688-690)Gag>Aag	p.E230K		NM_182504.3	NP_872310.2	Q6UE05	WBS28_HUMAN	Williams-Beuren syndrome chromosome region 28	230						integral to membrane				breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				CGAGGCCCAGGAGGTTGAACC	0.617000													124	94					0	0	0.000781405	0	0
CCDC61	729440	broad.mit.edu	37	19	46498700	46498700	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:46498700C>T	ENST00000263284.2	+	2	98	c.98C>T	c.(97-99)tCc>tTc	p.S33F						coiled-coil domain containing 61											endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164)		AACGCCGGATCCTGGGGCGGG	0.622000													4	13					0	0	0.00024832	0	0
TTN	7273	broad.mit.edu	37	2	179584835	179584835	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:179584835G>A	ENST00000589042.1	-	81	23758	c.23534C>T	c.(23533-23535)tCa>tTa	p.S7845L	TTN_ENST00000591111.1_Missense_Mutation_p.S7528L|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S6601L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7528	Ig-like 60.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCAATGAATGAAATCCTGGT	0.428000													21	24					0	0	0.00188189	0	0
PARS2	25973	broad.mit.edu	37	1	55224298	55224298	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:55224298G>A	ENST00000371279.3	-	2	619	c.537C>T	c.(535-537)ttC>ttT	p.F179F		NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN	prolyl-tRNA synthetase 2, mitochondrial (putative)	179					prolyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|proline-tRNA ligase activity			breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	GGTACAGCAGGAAGGGAAGCT	0.512000													32	67					0	0	0.00283554	0	0
RP11-24M17.5	0	broad.mit.edu	37	15	76075437	76075437	+	RNA	SNP	G	G	T	rs62028907	by1000genomes	TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr15:76075437G>T	ENST00000395215.3	+	0	1077																											AAGACGCTACGGGAGCAGGGT	0.607000													6	97					0.00198382	0.00858717	0.00198382	1	0
PXDN	7837	broad.mit.edu	37	2	1642682	1642682	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:1642682C>T	ENST00000252804.4	-	21	4192	c.4142G>A	c.(4141-4143)gGg>gAg	p.G1381E		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1381					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GTCATTTGTCCCAGATGCATC	0.547000													16	31					0	0	0.000566183	0	0
ZNF677	342926	broad.mit.edu	37	19	53740884	53740884	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:53740884C>T	ENST00000333952.4	-	5	1261	c.1096G>A	c.(1096-1098)Gaa>Aaa	p.E366K	ZNF677_ENST00000598513.1_Missense_Mutation_p.E366K			Q86XU0	ZN677_HUMAN	zinc finger protein 677	366					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		TGAATTCTTTCATGACCCCAA	0.398000													15	40					0	0	0.00244969	0	0
BPIFB1	92747	broad.mit.edu	37	20	31890751	31890751	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr20:31890751C>T	ENST00000253354.1	+	11	1172	c.1011C>T	c.(1009-1011)atC>atT	p.I337I	BPIFB1_ENST00000464032.1_3'UTR	NM_033197.2	NP_149974.2	Q8TDL5	LPLC1_HUMAN	BPI fold containing family B, member 1	337						extracellular space	lipid binding										CTACCCAGATCGTGAAGATCC	0.552000													33	56					0	0	0.000814825	0	0
ARL8A	127829	broad.mit.edu	37	1	202113662	202113662	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:202113662C>T	ENST00000272217.2	-	1	207	c.39G>A	c.(37-39)aaG>aaA	p.K13K		NM_001256129.1|NM_138795.3	NP_001243058.1|NP_620150.1	Q96BM9	ARL8A_HUMAN	ADP-ribosylation factor-like 8A	13					cell division|chromosome segregation|mitosis|small GTPase mediated signal transduction	late endosome membrane|lysosomal membrane|midbody|spindle midzone	alpha-tubulin binding|beta-tubulin binding|GTP binding|GTPase activity			large_intestine(1)|lung(2)|ovary(2)|skin(1)	6						AGAATAGGGCCTTGAACCAGT	0.662000													50	4					0	0	0.000781405	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6528347	6528347	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:6528347G>A	ENST00000377748.1	-	21	3277	c.2780C>T	c.(2779-2781)cCt>cTt	p.P927L	PLEKHG5_ENST00000340850.5_Missense_Mutation_p.P850L|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.P850L|PLEKHG5_ENST00000377725.1_Missense_Mutation_p.P850L|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.P887L|PLEKHG5_ENST00000377737.2_Missense_Mutation_p.P850L|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.P850L|PLEKHG5_ENST00000377740.3_Intron|PLEKHG5_ENST00000535355.1_Missense_Mutation_p.P919L|PLEKHG5_ENST00000544978.1_Missense_Mutation_p.P850L|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.P929L|PLEKHG5_ENST00000400915.3_Missense_Mutation_p.P906L	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	906					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		TGGAGGGGAAGGAACTCGTGG	0.667000													14	10					0	0	0.000308642	0	0
NCOA6	23054	broad.mit.edu	37	20	33337752	33337752	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr20:33337752G>T	ENST00000374796.2	-	10	4816	c.2246C>A	c.(2245-2247)cCa>cAa	p.P749Q	NCOA6_ENST00000359003.2_Missense_Mutation_p.P749Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	749	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TTGCATGTTTGGAGTTGGTCC	0.498000													5	119					0.00198382	0.00858717	0.00198382	1	0
MAP3K9	4293	broad.mit.edu	37	14	71204985	71204985	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr14:71204985C>T	ENST00000554752.2	-	8	1820	c.1821G>A	c.(1819-1821)aaG>aaA	p.K607K	MAP3K9_ENST00000381250.4_Silent_p.K607K|MAP3K9_ENST00000553414.1_Silent_p.K349K|MAP3K9_ENST00000555993.2_Silent_p.K607K|MAP3K9_ENST00000554146.1_Silent_p.K344K			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	607					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		AGGCAAGCTCCTTCTGACCAA	0.512000													22	40					0	0	0.000720815	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33960632	33960632	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:33960632C>T	ENST00000361328.3	+	8	2841	c.2688C>T	c.(2686-2688)atC>atT	p.I896I		NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	896					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				ACCAAAGAATCCATACGGGAG	0.498000													32	78					0	0	0.001512	0	0
SNAPC4	6621	broad.mit.edu	37	9	139272216	139272216	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr9:139272216G>A	ENST00000298532.2	-	21	4431	c.4063C>T	c.(4063-4065)Ctc>Ttc	p.L1355F		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	1355	SNAPC2-binding.				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		TTGTCCTGGAGCTGCCCCCGC	0.731000													13	9					0	0	0.00136819	0	0
CTD-3074O7.11	0	broad.mit.edu	37	11	66299150	66299150	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr11:66299150C>T	ENST00000419755.3	+	16	1821	c.1743C>T	c.(1741-1743)ctC>ctT	p.L581L	BBS1_ENST00000318312.7_Silent_p.L544L|ZDHHC24_ENST00000526986.1_Intron|BBS1_ENST00000455748.2_Silent_p.L447L|BBS1_ENST00000393994.2_Silent_p.L415L																							TGCCAGGGCTCAACTACCCCC	0.547000													42	56					0	0	0.000781405	0	0
OR4L1	122742	broad.mit.edu	37	14	20528236	20528236	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr14:20528236G>A	ENST00000315683.1	+	1	33	c.33G>A	c.(31-33)gaG>gaA	p.E11E		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TAGTGACCGAGTTTATTTTAC	0.338000													29	72					0	0	0.00209593	0	0
MAP3K6	9064	broad.mit.edu	37	1	27690531	27690531	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:27690531C>T	ENST00000374040.3	-	4	977	c.717G>A	c.(715-717)cgG>cgA	p.R239R	MAP3K6_ENST00000357582.2_Silent_p.R247R|MAP3K6_ENST00000493901.1_Silent_p.R247R			O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	247					activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TGAACCGCTCCCGCGCCTGCC	0.652000													16	15					0	0	0.000422831	0	0
PCLO	27445	broad.mit.edu	37	7	82585272	82585272	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:82585272C>T	ENST00000423517.2	-	5	5334	c.4997G>A	c.(4996-4998)cGa>cAa	p.R1666Q	PCLO_ENST00000333891.8_Missense_Mutation_p.R1666Q	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1597					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.R1666Q(2)|p.R1597Q(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGTTTTAAATCGGCGTAGCCC	0.373000													73	71					0	0	0.000781405	0	0
METTL4	64863	broad.mit.edu	37	18	2554989	2554989	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr18:2554989G>A	ENST00000319888.6	-	4	1306	c.508C>T	c.(508-510)Ctc>Ttc	p.L170F	METTL4_ENST00000574538.1_Missense_Mutation_p.L170F			Q8N3J2	METL4_HUMAN	methyltransferase like 4	170					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						CCACTTTTGAGACCTTCCTGG	0.363000													95	160					0	0	0.000781405	0	0
MKI67	4288	broad.mit.edu	37	10	129913965	129913965	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr10:129913965G>A	ENST00000368654.3	-	7	1082	c.707C>T	c.(706-708)cCc>cTc	p.P236L	MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	236					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTTCCAAAAGGGAGATTCATT	0.333000													31	8					0	0	0.001512	0	0
CHGB	1114	broad.mit.edu	37	20	5904156	5904156	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr20:5904156G>A	ENST00000378961.4	+	4	1570	c.1366G>A	c.(1366-1368)Gca>Aca	p.A456T		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	456						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GATGGACAAGGCAAGGAGGCA	0.542000													17	113					0	0	0.00074312	0	0
LNX1	84708	broad.mit.edu	37	4	54374252	54374252	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr4:54374252C>T	ENST00000306888.2	-	2	486	c.235G>A	c.(235-237)Gac>Aac	p.D79N	LNX1-AS1_ENST00000514364.1_RNA|LNX1_ENST00000263925.7_Missense_Mutation_p.D175N|LNX1-AS1_ENST00000511989.1_RNA|LNX1-AS1_ENST00000510785.1_RNA|FIP1L1_ENST00000507166.1_Intron	NM_032622.2	NP_116011.2	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	175						cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CCAGGCTCGTCTGTCATTAAG	0.632000													13	26					0	0	0.00244969	0	0
SLC9A2	6549	broad.mit.edu	37	2	103274328	103274328	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:103274328C>T	ENST00000233969.2	+	2	737	c.595C>T	c.(595-597)Ctc>Ttc	p.L199F		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	199						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						AGCATTCGGCCTCAGCGACAT	0.488000													37	112					0	0	0.00170553	0	0
MEI1	150365	broad.mit.edu	37	22	42190482	42190482	+	Splice_Site	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr22:42190482G>A	ENST00000401548.3	+	28	3574		c.e28+1		MEI1_ENST00000300398.4_Splice_Site|MEI1_ENST00000400107.1_Splice_Site|MEI1_ENST00000476893.1_Splice_Site	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1								binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CATGACCCTGGTAAGTGCAGA	0.498000													91	115					0	0	0.000781405	0	0
LRGUK	136332	broad.mit.edu	37	7	133943125	133943125	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:133943125C>T	ENST00000285928.2	+	19	2384	c.2315C>T	c.(2314-2316)gCc>gTc	p.A772V		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	772							ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						GGATCAGGAGCCAGTGACAGT	0.532000													49	38					0	0	0.000781405	0	0
SLC16A2	6567	broad.mit.edu	37	X	73751372	73751372	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chrX:73751372C>T	ENST00000276033.5	+	6	1992	c.1826C>T	c.(1825-1827)cCt>cTt	p.P609L	SLC16A2_ENST00000587091.1_Missense_Mutation_p.P535L			P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	535						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					Pyruvic acid(DB00119)	TCCCCCAACCCTGAGGAACCA	0.532000													14	12					0	0	0.00244969	0	0
DSG3	1830	broad.mit.edu	37	18	29041278	29041278	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr18:29041278G>A	ENST00000257189.4	+	8	985	c.902G>A	c.(901-903)tGg>tAg	p.W301*		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	301	Cadherin 3.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ACAGATAATTGGCTTGCAGTA	0.348000													30	38					0	0	0.00106085	0	0
RSPH9	221421	broad.mit.edu	37	6	43638591	43638591	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr6:43638591G>A	ENST00000372165.4	+	6	841	c.788G>A	c.(787-789)gGg>gAg	p.G263E	RSPH9_ENST00000372163.4_Missense_Mutation_p.G246S	NM_001193341.1	NP_001180270.1	Q9H1X1	RSPH9_HUMAN	radial spoke head 9 homolog (Chlamydomonas)	0					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GCTCTGGCCGGGCCTCACCTT	0.597000									Kartagener syndrome				61	39					0	0	0.000781405	0	0
TTN	7273	broad.mit.edu	37	2	179495596	179495596	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:179495596C>T	ENST00000589042.1	-	238	44313	c.44089G>A	c.(44089-44091)Gaa>Aaa	p.E14697K	TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E13056K|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E5757K|TTN_ENST00000342175.6_Missense_Mutation_p.E5824K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E12129K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E5632K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13056	Ig-like 96.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAGAGATTTCGGTTTCAAAG	0.493000													17	62					0	0	0.000566183	0	0
ANKRD55	79722	broad.mit.edu	37	5	55422854	55422854	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr5:55422854C>T	ENST00000341048.4	-	8	843	c.692G>A	c.(691-693)gGg>gAg	p.G231E	ANKRD55_ENST00000504958.2_Missense_Mutation_p.G188E|ANKRD55_ENST00000505970.2_Intron	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	230										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				ACATGTCTTCCCACTCTCATC	0.488000													86	62					0	0	0.000781405	0	0
HEPH	9843	broad.mit.edu	37	X	65476031	65476031	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chrX:65476031C>T	ENST00000519389.1	+	17	3096	c.2917C>T	c.(2917-2919)Cgg>Tgg	p.R973W	HEPH_ENST00000374727.3_Missense_Mutation_p.R922W|HEPH_ENST00000336279.5_Missense_Mutation_p.R652W|HEPH_ENST00000343002.2_Missense_Mutation_p.R919W|HEPH_ENST00000419594.1_Missense_Mutation_p.R730W|HEPH_ENST00000441993.2_Missense_Mutation_p.R922W			Q9BQS7	HEPH_HUMAN	hephaestin	919	Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TGACATGGATCGGGAATTTGC	0.493000													38	6					0	0	0.00148497	0	0
MXRA5	25878	broad.mit.edu	37	X	3243014	3243014	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chrX:3243014T>A	ENST00000217939.6	-	5	866	c.712A>T	c.(712-714)Att>Ttt	p.I238F		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	238	LRRCT.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CACTTCAGAATTCCTAAAACA	0.398000													13	1					0	0	0.00244969	0	0
VWA5A	4013	broad.mit.edu	37	11	123988472	123988472	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr11:123988472C>T	ENST00000456829.2	+	4	387	c.136C>T	c.(136-138)Cct>Tct	p.P46S	VWA5A_ENST00000361352.5_Missense_Mutation_p.P46S|VWA5A_ENST00000449321.1_Missense_Mutation_p.P46S|VWA5A_ENST00000392748.1_Missense_Mutation_p.P46S|VWA5A_ENST00000392744.4_Missense_Mutation_p.P62S|VWA5A_ENST00000360334.4_Missense_Mutation_p.P46S	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	46	VIT.									autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						GGAGAAAGTTCCTTTGGAGGC	0.458000													53	12					0	0	0.000781405	0	0
GJC1	10052	broad.mit.edu	37	17	42882944	42882944	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr17:42882944A>C	ENST00000426548.1	-	3	511	c.242T>G	c.(241-243)aTc>aGc	p.I81S	GJC1_ENST00000330514.4_Missense_Mutation_p.I81S|GJC1_ENST00000590758.1_Missense_Mutation_p.I81S|GJC1_ENST00000592524.1_Missense_Mutation_p.I81S	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	81					cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane				NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				CACCAGGATGATCTGGAACAC	0.512000													25	73					0	0	0.00278032	0	0
TRPC7	57113	broad.mit.edu	37	5	135692628	135692628	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr5:135692628C>T	ENST00000513104.1	-	2	730	c.448G>A	c.(448-450)Gac>Aac	p.D150N	TRPC7_ENST00000426057.2_Missense_Mutation_p.D150N|TRPC7_ENST00000355180.3_Missense_Mutation_p.D150N	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	150					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCATAGAAGTCGTCGTCGCGC	0.652000													32	77					0	0	0.00058488	0	0
LEPR	3953	broad.mit.edu	37	1	66083769	66083769	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:66083769G>A	ENST00000349533.6	+	16	2520	c.2335G>A	c.(2335-2337)Gaa>Aaa	p.E779K	LEPR_ENST00000344610.8_Missense_Mutation_p.E779K|LEPR_ENST00000371060.3_Missense_Mutation_p.E779K|LEPR_ENST00000371058.1_Missense_Mutation_p.E779K|LEPR_ENST00000371059.3_Missense_Mutation_p.E779K|LEPR_ENST00000406510.3_Intron	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	779	Fibronectin type-III 4.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		AAATCTTAATGAAGATGGTGA	0.313000													15	83					0	0	0.000566183	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140712475	140712475	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr5:140712475G>A	ENST00000517417.1	+	1	2224	c.2224G>A	c.(2224-2226)Ggc>Agc	p.G742S	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.G742S	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACTTTGTGGGCGTGGACGG	0.637000													14	64					0	0	0.00244969	0	0
CRYGN	155051	broad.mit.edu	37	7	151135093	151135093	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:151135093G>A	ENST00000337323.2	-	2	385	c.259C>T	c.(259-261)Cct>Tct	p.P87S	RP4-555L14.4_ENST00000465549.1_RNA|CRYGN_ENST00000476631.1_5'UTR	NM_144727.1	NP_653328.1	Q8WXF5	CRGN_HUMAN	crystallin, gamma N	87	Beta/gamma crystallin 'Greek key' 2.									central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(1)|lung(4)	8			OV - Ovarian serous cystadenocarcinoma(82;0.00358)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ATTCCTACAGGCCGACAGGAG	0.637000													30	55					0	0	0.000692331	0	0
GRN	2896	broad.mit.edu	37	17	42426541	42426541	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr17:42426541C>T	ENST00000053867.3	+	2	71	c.9C>T	c.(7-9)acC>acT	p.T3T	GRN_ENST00000589265.1_Silent_p.T3T	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	3					signal transduction	extracellular space	cytokine activity|growth factor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CCATGTGGACCCTGGTGAGCT	0.622000													28	35					0	0	0.00058488	0	0
PLA2G4F	255189	broad.mit.edu	37	15	42442637	42442637	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr15:42442637C>T	ENST00000397272.3	-	9	910	c.819G>A	c.(817-819)gaG>gaA	p.E273E	PLA2G4F_ENST00000382396.4_Silent_p.E273E	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	273					phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		GGATGCCCCCCTCGCCCAGCT	0.617000													16	10					0	0	0.00188189	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200801385	200801385	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:200801385G>A	ENST00000358823.2	+	5	973	c.703G>A	c.(703-705)Gaa>Aaa	p.E235K	CAMSAP2_ENST00000413307.2_Missense_Mutation_p.E235K|CAMSAP2_ENST00000236925.4_Missense_Mutation_p.E246K	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	246	CH.					cytoplasm|microtubule	protein binding										TCCATTGGTAGAAAATTTGTT	0.368000													23	37					0	0	0.00278032	0	0
RP1	6101	broad.mit.edu	37	8	55542301	55542301	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr8:55542301G>A	ENST00000220676.1	+	4	6007	c.5859G>A	c.(5857-5859)atG>atA	p.M1953I		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1953					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ATTTATGGATGAAAATACACC	0.333000													30	48					0	0	0.00283554	0	0
WRAP53	55135	broad.mit.edu	37	17	7606160	7606160	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr17:7606160G>A	ENST00000316024.5	+	8	3612	c.1264G>A	c.(1264-1266)Gac>Aac	p.D422N	WRAP53_ENST00000431639.2_Missense_Mutation_p.D422N|WRAP53_ENST00000534050.1_Missense_Mutation_p.D389N|WRAP53_ENST00000457584.2_Missense_Mutation_p.D422N|WRAP53_ENST00000396463.2_Missense_Mutation_p.D422N			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	422					positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	protein binding|RNA binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						CTTCGATCTGGACCCGTGAGT	0.602000													10	24					0	0	0.000442599	0	0
CCDC172	374355	broad.mit.edu	37	10	118101634	118101634	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr10:118101634G>A	ENST00000333254.3	+	5	620	c.369G>A	c.(367-369)aaG>aaA	p.K123K	CCDC172_ENST00000497093.1_3'UTR	NM_198515.2	NP_940917.1			coiled-coil domain containing 172																		AAATAACAAAGAAAAGAGAGC	0.279000													49	11					0	0	0.000781405	0	0
U2AF2	11338	broad.mit.edu	37	19	56171916	56171916	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:56171916C>T	ENST00000450554.2	+	4	1224	c.265C>T	c.(265-267)Cgt>Tgt	p.R89C	U2AF2_ENST00000308924.4_Missense_Mutation_p.R89C	NM_001012478.1|NM_007279.2	NP_001012496.1|NP_009210.1	P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	89					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		GAAGAAGGTCCGTAAATACTG	0.637000													13	18					0	0	0.000308642	0	0
SPAG9	9043	broad.mit.edu	37	17	49118926	49118926	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr17:49118926G>A	ENST00000262013.7	-	5	885	c.677C>T	c.(676-678)aCc>aTc	p.T226I	SPAG9_ENST00000357122.4_Missense_Mutation_p.T226I|SPAG9_ENST00000510283.1_Missense_Mutation_p.T83I|SPAG9_ENST00000505279.1_Missense_Mutation_p.T226I	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	226					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			AGATCCAGGGGTCTCTCCTCC	0.423000													16	57					0	0	0.000308642	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A	rs77484671		TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3455								p.E3455K(5)		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)		atcaaagaaggaaagaagaag	0.423000													6	68					0	0	0.000157383	0	0
LRRC55	219527	broad.mit.edu	37	11	56949896	56949896	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr11:56949896C>T	ENST00000497933.1	+	1	676	c.529C>T	c.(529-531)Cag>Tag	p.Q177*		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	147						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						CGACATGTTCCAGGAGGCCCA	0.612000													12	3					0	0	0.000978159	0	0
SCMH1	22955	broad.mit.edu	37	1	41579008	41579008	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:41579008G>A	ENST00000402904.2	-	8	1030	c.662C>T	c.(661-663)cCt>cTt	p.P221L	SCMH1_ENST00000456518.2_Intron|SCMH1_ENST00000361705.3_Missense_Mutation_p.P174L|SCMH1_ENST00000397174.2_Missense_Mutation_p.P201L|SCMH1_ENST00000361191.5_Missense_Mutation_p.P160L|SCMH1_ENST00000372595.1_Missense_Mutation_p.P160L|SCMH1_ENST00000337495.5_Missense_Mutation_p.P231L|SCMH1_ENST00000326197.7_Missense_Mutation_p.P221L|SCMH1_ENST00000372597.1_Missense_Mutation_p.P174L|SCMH1_ENST00000372596.1_Missense_Mutation_p.P160L|SCMH1_ENST00000397171.2_Missense_Mutation_p.P160L	NM_001031694.2	NP_001026864.1	Q96GD3	SCMH1_HUMAN	sex comb on midleg homolog 1 (Drosophila)	221					anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				CCAGCCCACAGGGAAGATGTC	0.557000													60	38					0	0	0.000781405	0	0
MDM1	56890	broad.mit.edu	37	12	68724898	68724898	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:68724898G>A	ENST00000303145.7	-	2	208	c.122C>T	c.(121-123)tCa>tTa	p.S41L	MDM1_ENST00000540418.1_5'UTR|MDM1_ENST00000430606.2_Missense_Mutation_p.S41L|MDM1_ENST00000411698.2_Missense_Mutation_p.S41L|MDM1_ENST00000393543.3_Missense_Mutation_p.S41L|MDM1_ENST00000545724.1_5'UTR	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	41						nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		TAATTGATCTGATCTAAGTCC	0.448000													55	103					0	0	0.000781405	0	0
ADCY8	114	broad.mit.edu	37	8	131880102	131880102	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr8:131880102G>A	ENST00000286355.5	-	9	4292	c.2200C>T	c.(2200-2202)Cct>Tct	p.P734S	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	734					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.P734S(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)			CTTGAAGAAGGAAGCAAACTT	0.353000										HNSCC(32;0.087)			22	69					0	0	0.00229938	0	0
DLG4	1742	broad.mit.edu	37	17	7107068	7107068	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr17:7107068G>A	ENST00000399510.2	-	7	1259	c.407C>T	c.(406-408)tCc>tTc	p.S136F	DLG4_ENST00000302955.6_Missense_Mutation_p.S90F|DLG4_ENST00000485100.1_Missense_Mutation_p.S90F|DLG4_ENST00000399506.2_Missense_Mutation_p.S93F	NM_001365.3	NP_001356.1	P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	93	PDZ 1.				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						GATGAAAATGGATGGGTCGTC	0.607000													27	23					0	0	0.000720815	0	0
ZNF560	147741	broad.mit.edu	37	19	9579859	9579859	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:9579859C>T	ENST00000301480.4	-	9	747	c.534G>A	c.(532-534)tgG>tgA	p.W178*		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	178	KRAB 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						GGCACATTTTCCATTCTGAAA	0.289000													4	7					0	0	0.000602214	0	0
TTC12	54970	broad.mit.edu	37	11	113220815	113220815	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr11:113220815C>T	ENST00000393020.1	+	14	1580	c.1175C>T	c.(1174-1176)tCa>tTa	p.S392L	TTC12_ENST00000483239.2_Missense_Mutation_p.S398L|TTC12_ENST00000314756.3_Missense_Mutation_p.S392L|TTC12_ENST00000529221.1_Missense_Mutation_p.S392L|TTC12_ENST00000478125.1_3'UTR			Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	392							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		GCGCTGGTGTCATTTCTTGAT	0.413000													21	57					0	0	0.00229938	0	0
CLEC10A	10462	broad.mit.edu	37	17	6978516	6978516	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr17:6978516C>T	ENST00000254868.4	-	9	1136	c.808G>A	c.(808-810)Gac>Aac	p.D270N	CLEC10A_ENST00000571664.1_Missense_Mutation_p.D246N|CLEC10A_ENST00000416562.2_Missense_Mutation_p.D243N|CLEC10A_ENST00000576617.1_3'UTR	NM_182906.2	NP_878910.1	Q8IUN9	CLC10_HUMAN	C-type lectin domain family 10, member A	270	C-type lectin.				endocytosis|innate immune response	integral to membrane|plasma membrane	sugar binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						CCCTGCCAGTCGTCTGGCTGG	0.597000													18	25					0	0	0.00121646	0	0
NPHP4	261734	broad.mit.edu	37	1	5937187	5937187	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:5937187C>T	ENST00000378156.4	-	20	3048	c.2783G>A	c.(2782-2784)gGg>gAg	p.G928E	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	928					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		CAAGTCTCCCCCGGCCTCCTG	0.662000													3	13					0	0	0.000602214	0	0
ANGEL1	23357	broad.mit.edu	37	14	77272779	77272779	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr14:77272779G>A	ENST00000251089.2	-	5	1472	c.1360C>T	c.(1360-1362)Cat>Tat	p.H454Y		NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	454										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)		GGCATCCCATGGTACTGGAGC	0.537000													10	30					0	0	0.00136819	0	0
RP1	6101	broad.mit.edu	37	8	55540055	55540055	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr8:55540055C>T	ENST00000220676.1	+	4	3761	c.3613C>T	c.(3613-3615)Cca>Tca	p.P1205S		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1205					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AGACATGGTTCCAATAGATCT	0.423000													71	82					0	0	0.000781405	0	0
ARC	23237	broad.mit.edu	37	8	143694666	143694666	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr8:143694666G>A	ENST00000356613.2	-	1	2167	c.967C>T	c.(967-969)Cag>Tag	p.Q323*		NM_015193.3	NP_056008.1	Q7LC44	ARC_HUMAN	activity-regulated cytoskeleton-associated protein	323					endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				ACCACGTACTGGATGATCTCC	0.657000													78	43					0	0	0.000781405	0	0
WBP11P1	441818	broad.mit.edu	37	18	30093509	30093509	+	RNA	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr18:30093509C>T	ENST00000567636.1	+	0	1884					NR_003558.1																						GCCACAGCAACCGTCACTGCC	0.493000													92	128					0	0	0.000781405	0	0
TSHZ3	57616	broad.mit.edu	37	19	31767497	31767497	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:31767497G>A	ENST00000240587.4	-	2	3529	c.3202C>T	c.(3202-3204)Ccg>Tcg	p.P1068S		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	1068					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TGGTCTTCCGGAGATTTCCCG	0.468000													28	54					0	0	0.00106085	0	0
ERLEC1	27248	broad.mit.edu	37	2	54041733	54041733	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:54041733C>T	ENST00000185150.4	+	12	1411	c.1280C>T	c.(1279-1281)cCa>cTa	p.P427L	ERLEC1_ENST00000378239.5_Missense_Mutation_p.P373L|GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000498475.2_Intron|ERLEC1_ENST00000405123.3_Intron|ASB3_ENST00000406625.2_Intron	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN	endoplasmic reticulum lectin 1	427					ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding			endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						ACTGACAAACCAAGACAGGTG	0.323000													7	15					0	0	0.000442599	0	0
DNAH10	196385	broad.mit.edu	37	12	124285934	124285934	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:124285934C>T	ENST00000409039.3	+	15	2240	c.2215C>T	c.(2215-2217)Cga>Tga	p.R739*		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	739	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGAACTGCTCCGAGTGTTTAG	0.433000													23	58					0	0	0.00229938	0	0
NOS1	4842	broad.mit.edu	37	12	117696239	117696239	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:117696239C>T	ENST00000317775.6	-	16	3179	c.2494G>A	c.(2494-2496)Gaa>Aaa	p.E832K	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Missense_Mutation_p.E832K	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	832	Flavodoxin-like.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TGCCTCATTTCCATCAAAGCA	0.498000													17	30					0	0	0.00152264	0	0
SLC25A48	153328	broad.mit.edu	37	5	135188281	135188281	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr5:135188281C>T	ENST00000274513.5	+	4	364	c.192C>T	c.(190-192)ttC>ttT	p.F64F	SLC25A48_ENST00000412661.2_Silent_p.F64F|SLC25A48_ENST00000425402.1_Intron|SLC25A48_ENST00000420621.1_Silent_p.F64F|SLC25A48_ENST00000433282.2_Silent_p.F10F			Q6ZT89	S2548_HUMAN	solute carrier family 25, member 48	64					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						GCATGTCCTTCCCCCTCGCCA	0.627000													24	119					0	0	0.000586117	0	0
PXDN	7837	broad.mit.edu	37	2	1642681	1642681	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:1642681C>T	ENST00000252804.4	-	21	4193	c.4143G>A	c.(4141-4143)ggG>ggA	p.G1381G		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1381					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		AGTCATTTGTCCCAGATGCAT	0.552000													16	32					0	0	0.000422831	0	0
UGT2A1	10941	broad.mit.edu	37	4	70512912	70512912	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr4:70512912G>A	ENST00000503640.1	-	1	506	c.451C>T	c.(451-453)Cca>Tca	p.P151S	UGT2A1_ENST00000512704.1_Missense_Mutation_p.P151S|UGT2A1_ENST00000514019.1_Missense_Mutation_p.P151S|UGT2A1_ENST00000286604.4_Missense_Mutation_p.P151S	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	151					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GGAAATACTGGATCAGACACC	0.428000													18	42					0	0	0.000566183	0	0
ANXA1	301	broad.mit.edu	37	9	75781074	75781074	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr9:75781074G>A	ENST00000376911.1	+	9	1650	c.768G>A	c.(766-768)ttG>ttA	p.L256L	ANXA1_ENST00000257497.6_Silent_p.L256L			P04083	ANXA1_HUMAN	annexin A1	256					alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion	basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8		all_epithelial(88;2.54e-11)		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620)	ACCTGGAGTTGAAAGGTGACA	0.353000													21	40					0	0	0.000720815	0	0
NDC1	55706	broad.mit.edu	37	1	54284741	54284741	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:54284741G>A	ENST00000371429.3	-	6	1204	c.606C>T	c.(604-606)ttC>ttT	p.F202F	NDC1_ENST00000234725.8_Silent_p.F87F|NDC1_ENST00000540001.1_Silent_p.F202F|NDC1_ENST00000537333.1_5'UTR|NDC1_ENST00000480952.1_5'UTR	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3			NDC1 transmembrane nucleoporin																		TAAAACGCAAGAACTTGTATT	0.333000													11	37					0	0	0.00136819	0	0
PDE8A	5151	broad.mit.edu	37	15	85660972	85660972	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr15:85660972G>A	ENST00000310298.4	+	18	1888	c.1636G>A	c.(1636-1638)Gaa>Aaa	p.E546K	PDE8A_ENST00000394553.1_Missense_Mutation_p.E546K|PDE8A_ENST00000339708.5_Missense_Mutation_p.E500K|PDE8A_ENST00000557957.1_Missense_Mutation_p.E474K			O60658	PDE8A_HUMAN	phosphodiesterase 8A	546	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			ACAAATTATCGAAGCCAATTA	0.413000													57	150					0	0	0.000781405	0	0
PLA2G6	8398	broad.mit.edu	37	22	38512191	38512191	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr22:38512191G>A	ENST00000332509.3	-	13	1953	c.1770C>T	c.(1768-1770)gaC>gaT	p.D590D	PLA2G6_ENST00000402064.1_Silent_p.D536D|PLA2G6_ENST00000335539.3_Silent_p.D536D	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	590					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	CCGGCTGCCGGTCAGACAGTG	0.587000													15	34					0	0	0.000422831	0	0
RGMA	56963	broad.mit.edu	37	15	93595475	93595475	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr15:93595475C>T	ENST00000329082.7	-	3	664	c.393G>A	c.(391-393)ccG>ccA	p.P131P	RGMA_ENST00000543599.1_Silent_p.P115P|RGMA_ENST00000425933.2_Silent_p.P115P|RGMA_ENST00000542321.2_Silent_p.P115P|RGMA_ENST00000556087.1_Silent_p.P115P|RGMA_ENST00000557301.1_Silent_p.P139P|RGMA_ENST00000556658.1_Silent_p.P22P|RGMA_ENST00000538818.1_Silent_p.P22P|RGMA_ENST00000557420.1_Intron	NM_020211.2	NP_064596.2	Q96B86	RGMA_HUMAN	repulsive guidance molecule family member a	131					axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			TGTCTCCGGCCGGTGGGAGCG	0.647000													29	31					0	0	0.000692331	0	0
CDC42EP2	10435	broad.mit.edu	37	11	65088607	65088607	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr11:65088607G>A	ENST00000544348.1	+	2	844	c.238G>A	c.(238-240)Gac>Aac	p.D80N	CDC42EP2_ENST00000279249.2_Missense_Mutation_p.D80N|CDC42EP2_ENST00000533419.1_Missense_Mutation_p.D80N			O14613	BORG1_HUMAN	CDC42 effector protein (Rho GTPase binding) 2	80					actin filament organization|positive regulation of actin filament polymerization|positive regulation of pseudopodium assembly|regulation of cell shape	cytoplasm|cytoskeleton|endomembrane system|plasma membrane	GTP-Rho binding|Rho GTPase activator activity			lung(1)	1						TGGCACCTTCGACCTCCCCTT	0.647000													22	12					0	0	0.00152264	0	0
CCDC8	83987	broad.mit.edu	37	19	46915027	46915027	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:46915027G>A	ENST00000307522.3	-	1	1814	c.1041C>T	c.(1039-1041)gcC>gcT	p.A347A		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	347						plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		CCTCAGCTGGGGCCCCTGCCC	0.627000													59	66					0	0	0.000781405	0	0
GLT8D2	83468	broad.mit.edu	37	12	104388185	104388185	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:104388185A>G	ENST00000360814.4	-	9	1100	c.695T>C	c.(694-696)gTt>gCt	p.V232A	GLT8D2_ENST00000546436.1_Missense_Mutation_p.V232A|GLT8D2_ENST00000548660.1_Missense_Mutation_p.V232A	NM_031302.3	NP_112592.1	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	232						integral to membrane	transferase activity, transferring glycosyl groups			kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						CATGTTGGCAACAATCACACC	0.468000													16	40					0	0	0.000422831	0	0
ADAM2	2515	broad.mit.edu	37	8	39679138	39679138	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr8:39679138G>A	ENST00000265708.4	-	5	414	c.311C>T	c.(310-312)tCt>tTt	p.S104F	ADAM2_ENST00000347580.4_Missense_Mutation_p.S104F|ADAM2_ENST00000523181.1_5'UTR|ADAM2_ENST00000379853.2_Missense_Mutation_p.S104F|ADAM2_ENST00000521880.1_Missense_Mutation_p.S104F	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	104					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CATCACCACAGATTTTGGATA	0.284000													32	43					0	0	0.00128727	0	0
TIAM2	26230	broad.mit.edu	37	6	155469324	155469324	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr6:155469324G>A	ENST00000461783.3	+	9	3157	c.1884G>A	c.(1882-1884)ggG>ggA	p.G628G	TIAM2_ENST00000360366.4_Silent_p.G628G|TIAM2_ENST00000529824.2_Silent_p.G628G|TIAM2_ENST00000318981.5_Silent_p.G628G|TIAM2_ENST00000456144.1_Silent_p.G628G|TIAM2_ENST00000367174.2_5'UTR			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	628					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AGAAGCATGGGAAAGAGGACA	0.507000													56	20					0	0	0.000781405	0	0
SLC8A3	6547	broad.mit.edu	37	14	70515464	70515464	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr14:70515464C>T	ENST00000533541.1	-	4	736	c.498G>A	c.(496-498)ttG>ttA	p.L166L	SLC8A3_ENST00000356921.2_Intron|SLC8A3_ENST00000394330.2_Intron|SLC8A3_ENST00000534137.1_Intron|SLC8A3_ENST00000528359.1_Intron|SLC8A3_ENST00000216568.7_Intron|SLC8A3_ENST00000381269.2_Intron|SLC8A3_ENST00000357887.3_Intron			P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	0					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TTTGCAAATTCAAGCACCTCT	0.488000													5	5					0	0	0.000602214	0	0
KCNN4	3783	broad.mit.edu	37	19	44273133	44273133	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:44273133G>A	ENST00000262888.3	-	7	1496	c.1101C>T	c.(1099-1101)tcC>tcT	p.S367S		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	367					defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)	TGTCCACCATGGAGTTCACTT	0.572000													52	51					0	0	0.000781405	0	0
OTOP3	347741	broad.mit.edu	37	17	72943286	72943286	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr17:72943286C>G	ENST00000328801.4	+	6	1336	c.1336C>G	c.(1336-1338)Ctc>Gtc	p.L446V		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	446						integral to membrane|intracellular	zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					GCATGAGCTGCTCAACCGCCT	0.617000													5	34					0	0	0.000602214	0	0
PGD	5226	broad.mit.edu	37	1	10464254	10464254	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:10464254T>G	ENST00000538557.1	+	5	572	c.328T>G	c.(328-330)Ttt>Gtt	p.F110V	PGD_ENST00000270776.8_Missense_Mutation_p.F123V|PGD_ENST00000541529.1_Missense_Mutation_p.F101V			P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	123					pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)		GGGAATTTTATTTGTGGGGAG	0.493000													31	48					0	0	0.00283554	0	0
POU6F1	5463	broad.mit.edu	37	12	51589948	51589948	+	Silent	SNP	T	T	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:51589948T>C	ENST00000389243.4	-	8	993	c.54A>G	c.(52-54)ggA>ggG	p.G18G	POU6F1_ENST00000333640.10_Silent_p.G18G|POU6F1_ENST00000550824.1_Silent_p.G18G			Q14863	PO6F1_HUMAN	POU class 6 homeobox 1	18	Gln/Pro-rich.				brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						ATGGAAGGGTTCCAATAACCT	0.607000													15	10					0	0	0.000422831	0	0
PCOLCE2	26577	broad.mit.edu	37	3	142567189	142567189	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr3:142567189G>A	ENST00000295992.3	-	3	624	c.318C>T	c.(316-318)ttC>ttT	p.F106F	PCOLCE2_ENST00000485766.1_Silent_p.F106F	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	106	CUB 1.					extracellular region	collagen binding|heparin binding|peptidase activator activity			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						AAGTGCCACAGAAGCGGCCAA	0.527000													66	12					0	0	0.000781405	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72013120	72013120	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:72013120T>C	ENST00000378743.3	-	27	5477	c.5119A>G	c.(5119-5121)Aag>Gag	p.K1707E		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1707					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TTATTATACTTCTCAAACCCC	0.348000													10	30					0	0	0.00136819	0	0
FOXR2	139628	broad.mit.edu	37	X	55650362	55650362	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chrX:55650362C>T	ENST00000339140.3	+	1	530	c.218C>T	c.(217-219)cCc>cTc	p.P73L		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	73					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						GATGGTCCTCCCTGTGAACCC	0.537000													20	5					0	0	0.00152264	0	0
SFRP2	6423	broad.mit.edu	37	4	154702764	154702764	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr4:154702764A>T	ENST00000274063.4	-	3	1011	c.727T>A	c.(727-729)Ttg>Atg	p.L243M		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	243	NTR.				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				GTGCACTGCAAGCTGTCTTTG	0.532000													27	47					0	0	0.000586117	0	0
LRP5	4041	broad.mit.edu	37	11	68153788	68153788	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr11:68153788C>T	ENST00000294304.7	+	6	1126	c.1020C>T	c.(1018-1020)gcC>gcT	p.A340A		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	340					adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCACAGGAGCCGAGGAGGTGC	0.662000													20	10					0	0	0.000720815	0	0
MET	4233	broad.mit.edu	37	7	116339776	116339776	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:116339776C>T	ENST00000397752.3	+	2	838	c.638C>T	c.(637-639)tCg>tTg	p.S213L	MET_ENST00000318493.6_Missense_Mutation_p.S213L|MET_ENST00000436117.2_Missense_Mutation_p.S213L	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	213	Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	p.S213L(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)			CCATTGCATTCGATATCAGTG	0.403000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				64	112					0	0	0.000781405	0	0
OR2D3	120775	broad.mit.edu	37	11	6942547	6942547	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr11:6942547G>A	ENST00000317834.3	+	1	343	c.315G>A	c.(313-315)agG>agA	p.R105R		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TGGTAAAGAGGAAAACCATTT	0.418000													71	22					0	0	0.000781405	0	0
KLHL17	339451	broad.mit.edu	37	1	898587	898587	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:898587C>T	ENST00000338591.3	+	7	1248	c.1141C>T	c.(1141-1143)Cgg>Tgg	p.R381W		NM_198317.2	NP_938073.1	Q6TDP4	KLH17_HUMAN	kelch-like family member 17	381	Interaction with F-actin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold			central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GCGCCGGGCCCGGGTGGGAGT	0.706000													7	16					0	0	0.000157383	0	0
SRRM2	23524	broad.mit.edu	37	16	2812281	2812281	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr16:2812281C>T	ENST00000301740.8	+	11	2301	c.1752C>T	c.(1750-1752)tcC>tcT	p.S584S		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	584	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GGGGCAGGTCCCGCTCTAGAA	0.627000													8	13					0	0	0.000157383	0	0
METTL22	79091	broad.mit.edu	37	16	8729078	8729078	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr16:8729078C>T	ENST00000381920.3	+	5	867	c.609C>T	c.(607-609)ctC>ctT	p.L203L	METTL22_ENST00000561758.1_Silent_p.L147L|METTL22_ENST00000568967.1_3'UTR	NM_024109.2	NP_077014.2	Q9BUU2	MET22_HUMAN	methyltransferase like 22	203							methyltransferase activity			large_intestine(5)|lung(4)	9						GACAGGACCTCTTCCGAGGAT	0.627000													37	25					0	0	0.00111076	0	0
TNRC6B	23112	broad.mit.edu	37	22	40696486	40696486	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr22:40696486C>T	ENST00000454349.2	+	13	3947	c.3736C>T	c.(3736-3738)Ccc>Tcc	p.P1246S	TNRC6B_ENST00000335727.8_Missense_Mutation_p.P1136S|TNRC6B_ENST00000402203.1_Missense_Mutation_p.P442S|TNRC6B_ENST00000301923.9_Missense_Mutation_p.P442S|TNRC6B_ENST00000497559.1_3'UTR	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1246					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						CAAGCAGTTTCCCAACAGTGG	0.403000													13	17					0	0	0.00244969	0	0
PLEKHG4	25894	broad.mit.edu	37	16	67314157	67314157	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr16:67314157C>T	ENST00000360461.5	+	1	2745	c.210C>T	c.(208-210)ttC>ttT	p.F70F	PLEKHG4_ENST00000379344.3_Silent_p.F70F|PLEKHG4_ENST00000427155.2_Silent_p.F70F|PLEKHG4_ENST00000450733.1_Silent_p.F70F	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	70					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		CCAGGAAATTCCAGTTACCCC	0.617000													17	14					0	0	0.00074312	0	0
IFT140	9742	broad.mit.edu	37	16	1630847	1630847	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr16:1630847G>A	ENST00000426508.2	-	13	1800	c.1437C>T	c.(1435-1437)acC>acT	p.T479T	LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	479										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)				CACACAAGAAGGTCCCTAAAA	0.493000													9	19					0	0	0.000673444	0	0
NLRC3	197358	broad.mit.edu	37	16	3604305	3604305	+	RNA	SNP	C	C	T	rs141569334	by1000genomes	TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr16:3604305C>T	ENST00000301749.7	-	0	2610				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	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CACCATCATCCCTAACGGTGT	0.592000													21	22					0	0	0.000720815	0	0
FMO1	2326	broad.mit.edu	37	1	171244498	171244498	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:171244498G>T	ENST00000354841.4	+	3	466	c.335G>T	c.(334-336)aGt>aTt	p.S112I	FMO1_ENST00000367750.3_Missense_Mutation_p.S112I|FMO1_ENST00000402921.2_Missense_Mutation_p.S49I|FMO1_ENST00000469112.1_3'UTR			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	112					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AAAGTCTGCAGTGTAACAAAA	0.408000													45	43					1.63429e-32	7.20188e-32	0.000781405	1	0
AHNAK2	113146	broad.mit.edu	37	14	105419565	105419565	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr14:105419565C>T	ENST00000333244.5	-	7	2342	c.2223G>A	c.(2221-2223)gtG>gtA	p.V741V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	741						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCGGAAGTTTCACATCCACTT	0.627000													32	39					0	0	0.00283554	0	0
IL22RA1	58985	broad.mit.edu	37	1	24463708	24463708	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:24463708C>T	ENST00000270800.1	-	3	306	c.268G>A	c.(268-270)Gag>Aag	p.E90K		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	90	Fibronectin type-III 1.					integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		TAGTAGAGCTCCGTGAGGTTG	0.617000													12	29					0	0	0.00185496	0	0
PCLO	27445	broad.mit.edu	37	7	82785180	82785180	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:82785180C>T	ENST00000423517.2	-	2	1114	c.777G>A	c.(775-777)caG>caA	p.Q259Q	PCLO_ENST00000333891.8_Silent_p.Q259Q	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	259	Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			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						GGGTAGGACCCTGAATTGGCT	0.468000													28	35					0	0	0.001512	0	0
ECT2	1894	broad.mit.edu	37	3	172486801	172486801	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr3:172486801C>T	ENST00000417960.1	+	13	1677	c.1200C>T	c.(1198-1200)acC>acT	p.T400T	ECT2_ENST00000441497.2_Silent_p.T401T|ECT2_ENST00000427830.1_Silent_p.T401T|ECT2_ENST00000540509.1_Silent_p.T432T|ECT2_ENST00000232458.5_Silent_p.T401T|ECT2_ENST00000392692.3_Silent_p.T432T	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	401					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			TTTCAGACACCCCAAAGTCTT	0.363000													24	41					0	0	0.00047179	0	0
METTL21B	25895	broad.mit.edu	37	12	58174169	58174169	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:58174169C>T	ENST00000300209.8	+	3	546	c.421C>T	c.(421-423)Cct>Tct	p.P141S	METTL21B_ENST00000333012.5_3'UTR|METTL21B_ENST00000548256.1_3'UTR|METTL21B_ENST00000551420.1_5'UTR|RP11-571M6.15_ENST00000553083.1_Intron|RP11-571M6.15_ENST00000471530.1_Intron	NM_015433.2	NP_056248.2	Q96AZ1	MT21B_HUMAN	methyltransferase like 21B	141						integral to membrane|intracellular	methyltransferase activity			endometrium(1)|lung(1)	2						TCATGTCTTCCCTGCAAACTA	0.617000													21	42					0	0	0.00229938	0	0
FAT3	120114	broad.mit.edu	37	11	92624019	92624019	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr11:92624019G>A	ENST00000298047.6	+	27	13527	c.13510G>A	c.(13510-13512)Gat>Aat	p.D4504N	FAT3_ENST00000525166.1_Missense_Mutation_p.D4354N|FAT3_ENST00000533797.1_Missense_Mutation_p.D807N|FAT3_ENST00000489716.1_3'UTR|FAT3_ENST00000409404.2_Missense_Mutation_p.D4472N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4504	Pro-rich.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CAACGAAACGGATTTGGTGGG	0.587000										TCGA Ovarian(4;0.039)			212	53					0	0	0.000781405	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112900676	112900676	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr9:112900676C>T	ENST00000374530.3	+	8	3032	c.2852C>T	c.(2851-2853)tCc>tTc	p.S951F	AKAP2_ENST00000434623.2_Missense_Mutation_p.S809F|AKAP2_ENST00000510514.5_Missense_Mutation_p.S951F|AKAP2_ENST00000482335.1_3'UTR|AKAP2_ENST00000374525.1_Missense_Mutation_p.S809F|AKAP2_ENST00000259318.7_Missense_Mutation_p.S720F|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.S951F|AKAP2_ENST00000555236.1_Missense_Mutation_p.S951F	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		720							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						CGGACTTTGTCCATGATTGAG	0.542000													27	69					0	0	0.000720815	0	0
FAM192A	80011	broad.mit.edu	37	16	57188232	57188232	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr16:57188232G>A	ENST00000309137.8	-	7	993	c.735C>T	c.(733-735)ttC>ttT	p.F245F	FAM192A_ENST00000389447.5_Silent_p.F245F|FAM192A_ENST00000567439.1_Silent_p.F245F|FAM192A_ENST00000569266.1_Silent_p.F245F|FAM192A_ENST00000566077.1_Silent_p.F168F|FAM192A_ENST00000564108.1_Silent_p.F245F	NM_024946.2	NP_079222.1	Q9GZU8	F192A_HUMAN	family with sequence similarity 192, member A	245						nucleus				endometrium(2)|large_intestine(3)|lung(4)|prostate(2)	11						TGTTGGTTCGGAAGATGGAGG	0.587000													11	35					0	0	0.00244969	0	0
IFT140	9742	broad.mit.edu	37	16	1630848	1630848	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr16:1630848G>A	ENST00000426508.2	-	13	1799	c.1436C>T	c.(1435-1437)aCc>aTc	p.T479I	LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	479										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)				ACACAAGAAGGTCCCTAAAAT	0.498000													9	20					0	0	0.000673444	0	0
OVGP1	5016	broad.mit.edu	37	1	111957230	111957230	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:111957230C>T	ENST00000369732.3	-	11	1948	c.1893G>A	c.(1891-1893)ccG>ccA	p.P631P		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	631					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		GAGTTTGTTCCGGGAGCTGGA	0.502000													36	29					0	0	0.00170553	0	0
GDAP2	54834	broad.mit.edu	37	1	118420659	118420659	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:118420659G>A	ENST00000369443.4	-	13	1667	c.1418C>T	c.(1417-1419)cCt>cTt	p.P473L	GDAP2_ENST00000369442.3_Missense_Mutation_p.P473L	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2	473	CRAL-TRIO.									kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		GACAAAAGGAGGAAAGTCAAT	0.448000													20	24					0	0	0.00278032	0	0
GADD45G	10912	broad.mit.edu	37	9	92220903	92220903	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr9:92220903G>C	ENST00000252506.6	+	4	498	c.389G>C	c.(388-390)tGg>tCg	p.W130S	GADD45G_ENST00000494726.1_3'UTR|GADD45G_ENST00000375769.1_Missense_Mutation_p.W112S	NM_006705.3	NP_006696.1	O95257	GA45G_HUMAN	growth arrest and DNA-damage-inducible, gamma	130					activation of MAPKKK activity|apoptosis|cell differentiation|DNA repair|multicellular organismal development		protein binding			lung(2)	2						GAGGACGCCTGGAAGGATCCC	0.682000													4	21					0	0	0.000602214	0	0
SLC13A2	9058	broad.mit.edu	37	17	26822813	26822813	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr17:26822813C>T	ENST00000444914.3	+	10	2016	c.1596C>T	c.(1594-1596)ttC>ttT	p.F532F	SLC13A2_ENST00000537681.1_Silent_p.F412F|SLC13A2_ENST00000545060.1_Silent_p.F440F|SLC13A2_ENST00000314669.5_Silent_p.F483F	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	483						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CTACGATCTTCCTGCCCATCC	0.632000													14	59					0	0	0.000422831	0	0
IQUB	154865	broad.mit.edu	37	7	123150081	123150081	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:123150081C>A	ENST00000466202.1	-	3	982	c.406G>T	c.(406-408)Gta>Tta	p.V136L	IQUB_ENST00000324698.6_Missense_Mutation_p.V136L|IQUB_ENST00000434450.1_Missense_Mutation_p.V136L|IQUB_ENST00000488987.1_Intron			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	136	Ubiquitin-like.									breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						GGAATAAGTACAACTTTTACT	0.308000													82	196					2.43516e-34	1.07441e-33	0.000781405	1	0
COL14A1	7373	broad.mit.edu	37	8	121211734	121211734	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr8:121211734G>A	ENST00000297848.3	+	8	1076	c.806G>A	c.(805-807)gGa>gAa	p.G269E	COL14A1_ENST00000537875.1_Missense_Mutation_p.G269E|COL14A1_ENST00000247781.3_Intron|COL14A1_ENST00000309791.4_Missense_Mutation_p.G269E|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	269	VWFA 1.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			ATCACAGATGGAAAATCCCAA	0.383000													46	52					0	0	0.00222228	0	0
OR6X1	390260	broad.mit.edu	37	11	123624842	123624842	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr11:123624842G>A	ENST00000327930.2	-	1	411	c.385C>T	c.(385-387)Cac>Tac	p.H129Y		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GTGGGGTGGTGAAGGGGATTG	0.552000													28	8					0	0	0.000878237	0	0
PCDHB12	56124	broad.mit.edu	37	5	140588590	140588590	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr5:140588590G>A	ENST00000239450.2	+	1	300	c.111G>A	c.(109-111)gaG>gaA	p.E37E	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		37	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGTGATGGAGGAATTGCAGA	0.527000													96	46					0	0	0.000781405	0	0
CELSR3	1951	broad.mit.edu	37	3	48698913	48698913	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr3:48698913G>A	ENST00000544264.1	-	1	1435	c.1155C>T	c.(1153-1155)atC>atT	p.I385I	CELSR3_ENST00000164024.4_Silent_p.I385I			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	385	Cadherin 1.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCGCCGTACGGATAAGGCCGC	0.697000													16	22					0	0	0.000422831	0	0
GRIP2	80852	broad.mit.edu	37	3	14535176	14535176	+	RNA	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr3:14535176G>A	ENST00000273083.3	-	0	3193							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						GCTGACTTCAGAGCATCCGGG	0.652000													14	3					0	0	0.000422831	0	0
CSRNP2	81566	broad.mit.edu	37	12	51461553	51461553	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:51461553C>A	ENST00000228515.1	-	4	908	c.611G>T	c.(610-612)cGa>cTa	p.R204L		NM_030809.2	NP_110436.1	Q9H175	CSRN2_HUMAN	cysteine-serine-rich nuclear protein 2	204					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						GCGGATGGCTCGAAGTTCTTG	0.572000													21	54					3.62473e-10	1.58967e-09	0.00188189	1	0
IGKV1-5	28299	broad.mit.edu	37	2	89247292	89247292	+	RNA	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:89247292C>T	ENST00000496168.1	-	0	183																											CCCTCATGTCCATGCTGTGTC	0.547000													40	24					0	0	0.000680045	0	0
KL	9365	broad.mit.edu	37	13	33635153	33635153	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr13:33635153G>A	ENST00000380099.3	+	4	1945	c.1937G>A	c.(1936-1938)gGa>gAa	p.G646E	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	646	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CCGAACCAAGGACTGCCGCGC	0.632000													32	54					0	0	0.00283554	0	0
COL15A1	1306	broad.mit.edu	37	9	101778395	101778395	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr9:101778395C>T	ENST00000375001.3	+	11	2064	c.1641C>T	c.(1639-1641)atC>atT	p.I547I		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	547	4 X tandem repeats.|Nonhelical region 1 (NC1).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				AAAGATGGATCACTCCAGTAA	0.592000													35	21					0	0	0.00111076	0	0
RFX6	222546	broad.mit.edu	37	6	117245947	117245947	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr6:117245947G>A	ENST00000332958.2	+	15	1687	c.1671G>A	c.(1669-1671)aaG>aaA	p.K557K		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	557					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						AGTATATGAAGAATTCAGGTA	0.308000													12	5					0	0	0.00136819	0	0
MAT2B	27430	broad.mit.edu	37	5	162939023	162939023	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr5:162939023C>T	ENST00000518095.1	+	2	152	c.79C>T	c.(79-81)Cct>Tct	p.P27S	MAT2B_ENST00000280969.5_Missense_Mutation_p.P16S|MAT2B_ENST00000518731.1_Missense_Mutation_p.P16S|MAT2B_ENST00000321757.6_Missense_Mutation_p.P27S			Q9NZL9	MAT2B_HUMAN	methionine adenosyltransferase II, beta	27					extracellular polysaccharide biosynthetic process|methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol|methionine adenosyltransferase complex|nucleus	dTDP-4-dehydrorhamnose reductase activity|methionine adenosyltransferase regulator activity|protein binding			endometrium(3)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	14	Renal(175;0.000281)	Medulloblastoma(196;0.0208)|all_neural(177;0.0765)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.027)|OV - Ovarian serous cystadenocarcinoma(192;0.0406)|Epithelial(171;0.0797)	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	AGTTAACATCCCTAATAGGAG	0.423000													61	30					0	0	0.000781405	0	0
CD99L2	83692	broad.mit.edu	37	X	149963941	149963941	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chrX:149963941G>A	ENST00000370377.3	-	5	413	c.296C>T	c.(295-297)aCc>aTc	p.T99I	CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000466436.1_Missense_Mutation_p.T50I|CD99L2_ENST00000437787.2_Intron	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	99	Poly-Thr.				cell adhesion	cell junction|integral to membrane				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GGTCGTGGTGGTTACATGGTT	0.512000													59	12					0	0	0.000781405	0	0
NYNRIN	57523	broad.mit.edu	37	14	24884151	24884151	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr14:24884151G>A	ENST00000382554.3	+	9	3514	c.3196G>A	c.(3196-3198)Ggc>Agc	p.G1066S		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1066					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TCCCTACCTGGGCATCCCCTG	0.637000													18	27					0	0	0.000958276	0	0
STMN4	81551	broad.mit.edu	37	8	27098674	27098674	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr8:27098674G>A	ENST00000350889.4	-	5	409	c.296C>T	c.(295-297)tCc>tTc	p.S99F	STMN4_ENST00000519614.1_Missense_Mutation_p.S72F|STMN4_ENST00000519997.1_Missense_Mutation_p.S63F|STMN4_ENST00000523048.1_Missense_Mutation_p.S99F|STMN4_ENST00000522908.1_Missense_Mutation_p.S99F|STMN4_ENST00000265770.7_Missense_Mutation_p.S72F	NM_030795.2	NP_110422.2	Q9H169	STMN4_HUMAN	stathmin-like 4	72					intracellular signal transduction					endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	11		Ovarian(32;0.00167)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142)		CCCATCAAAGGAGGGTGGCTT	0.557000													69	67					0	0	0.000781405	0	0
SOX30	11063	broad.mit.edu	37	5	157078445	157078445	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr5:157078445C>T	ENST00000265007.6	-	1	983	c.642G>A	c.(640-642)acG>acA	p.T214T	SOX30_ENST00000519442.1_Intron|SOX30_ENST00000311371.5_Silent_p.T214T	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	214					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			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)			CGGGTTCCTCCGTTTTGATCA	0.637000													85	37					0	0	0.000781405	0	0
FBXO41	150726	broad.mit.edu	37	2	73492531	73492531	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:73492531C>T	ENST00000521871.1	-	5	1858	c.1443G>A	c.(1441-1443)ggG>ggA	p.G481G	FBXO41_ENST00000295133.5_Silent_p.G542G|FBXO41_ENST00000520530.2_Silent_p.G481G			Q8TF61	FBX41_HUMAN	F-box protein 41	481						intracellular	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						CACCCTCTTCCCCCTCAGTGC	0.701000													20	10					0	0	0.00121646	0	0
PEAR1	375033	broad.mit.edu	37	1	156873774	156873774	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:156873774G>A	ENST00000338302.3	+	3	281	c.56G>A	c.(55-57)gGa>gAa	p.G19E	PEAR1_ENST00000292357.7_Missense_Mutation_p.G19E			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	19						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CGGCTGGCTGGAACTCTCAAC	0.637000													55	111					0	0	0.000781405	0	0
PNPLA1	285848	broad.mit.edu	37	6	36262129	36262129	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr6:36262129G>A	ENST00000394571.2	+	4	667	c.667G>A	c.(667-669)Gag>Aag	p.E223K	PNPLA1_ENST00000312917.5_Missense_Mutation_p.E137K|PNPLA1_ENST00000388715.3_Missense_Mutation_p.E128K	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	223					lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						GTTCTCCCTGGAGAACATCGC	0.612000													40	70					0	0	0.000680045	0	0
NFATC2IP	84901	broad.mit.edu	37	16	28966005	28966005	+	Splice_Site	SNP	T	T	G			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr16:28966005T>G	ENST00000320805.4	+	3	653		c.e3+2		NFATC2IP_ENST00000562977.1_Intron|NFATC2IP_ENST00000564978.1_Intron	NM_032815.3	NP_116204.3	Q8NCF5	NF2IP_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein							cytoplasm|nucleus				breast(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(2)	11						AGAGTTTCTGTGAGTGAGGCC	0.547000													33	13					0	0	0.000953801	0	0
ZC3H3	23144	broad.mit.edu	37	8	144522285	144522285	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr8:144522285G>C	ENST00000262577.5	-	11	2772	c.2741C>G	c.(2740-2742)tCc>tGc	p.S914C		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	914					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			GGACTGCAGGGAGATGAAGGA	0.682000													7	70					0	0	0.000274275	0	0
TAL1	6886	broad.mit.edu	37	1	47685531	47685531	+	Missense_Mutation	SNP	G	G	A	rs146355469		TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:47685531G>A	ENST00000371883.3	-	4	1439	c.863C>T	c.(862-864)tCc>tTc	p.S288F	TAL1_ENST00000294339.3_Missense_Mutation_p.S286F|TAL1_ENST00000459729.1_5'UTR|TAL1_ENST00000371884.2_Missense_Mutation_p.S286F			P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	286					basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						GGAGTTGGGGGAAAGCACGTC	0.711000			T	"""TRD@, SIL"""	lymphoblastic leukemia/biphasic								7	33					0	0	0.000157383	0	0
HERC3	8916	broad.mit.edu	37	4	89571022	89571022	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr4:89571022C>T	ENST00000402738.1	+	4	497	c.258C>T	c.(256-258)atC>atT	p.I86I	HERC3_ENST00000407637.1_Silent_p.I86I|HERC3_ENST00000264345.3_Silent_p.I86I	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	86					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity	p.I86M(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		ATCAGCATATCATTCATGTGG	0.498000													28	60					0	0	0.001512	0	0
CHRM2	1129	broad.mit.edu	37	7	136700068	136700068	+	Silent	SNP	C	C	T	rs148163637	by1000genomes	TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:136700068C>T	ENST00000445907.2	+	3	984	c.456C>T	c.(454-456)ttC>ttT	p.F152F	AC009264.1_ENST00000592183.1_RNA|CHRM2_ENST00000402486.3_Silent_p.F152F|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000397608.3_Silent_p.F152F|AC009264.1_ENST00000593789.1_RNA|CHRM2_ENST00000320658.5_Silent_p.F152F|AC009264.1_ENST00000439694.1_RNA|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000597642.1_RNA|CHRM2_ENST00000453373.1_Silent_p.F152F|CHRM2_ENST00000401861.1_Silent_p.F152F	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	152					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	TCCTCTCTTTCATCCTCTGGG	0.498000													50	91					0	0	0.000781405	0	0
PCDHGB7	56099	broad.mit.edu	37	5	140798046	140798046	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr5:140798046C>T	ENST00000398594.2	+	1	620	c.620C>T	c.(619-621)gCt>gTt	p.A207V	PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron	NM_018927.3	NP_061750.1														central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCAGAGCGCTCACCACTTG	0.498000													12	57					0	0	0.00136819	0	0
CCDC19	25790	broad.mit.edu	37	1	159863040	159863040	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:159863040C>T	ENST00000368099.4	-	2	123	c.59G>A	c.(58-60)aGg>aAg	p.R20K	CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000426543.2_5'UTR	NM_012337.2	NP_036469.2	Q9UL16	CCD19_HUMAN	coiled-coil domain containing 19	20						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			AGCCTTATTCCTTGACCTGTT	0.507000													160	26					0	0	0.000781405	0	0
ITPKA	3706	broad.mit.edu	37	15	41795237	41795237	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr15:41795237C>T	ENST00000260386.5	+	7	1312	c.1259C>T	c.(1258-1260)aCc>aTc	p.T420I		NM_002220.2	NP_002211.1	P23677	IP3KA_HUMAN	inositol-trisphosphate 3-kinase A	420					signal transduction		ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			kidney(1)|lung(3)|skin(1)	5		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;7.63e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		TTCGGCAAGACCACGCCCCTC	0.672000													5	23					0	0	0.000602214	0	0
GPR148	344561	broad.mit.edu	37	2	131487758	131487758	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:131487758C>T	ENST00000309926.4	+	1	1116	c.1034C>T	c.(1033-1035)aCc>aTc	p.T345I		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	345						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					GCCATCTTTACCATTTCCTAG	0.527000													4	3					0	0	0.00116845	0	0
NCAPG2	54892	broad.mit.edu	37	7	158473481	158473481	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:158473481T>C	ENST00000409339.3	-	10	1065	c.952A>G	c.(952-954)Aaa>Gaa	p.K318E	NCAPG2_ENST00000449727.2_Missense_Mutation_p.K318E|NCAPG2_ENST00000356309.3_Missense_Mutation_p.K318E|NCAPG2_ENST00000409423.1_Missense_Mutation_p.K318E|NCAPG2_ENST00000275830.10_Missense_Mutation_p.K110E			Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	318					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		TGCCGAACTTTCTTTTGATGG	0.328000													37	80					0	0	0.00195071	0	0
SERPINB10	5273	broad.mit.edu	37	18	61602224	61602224	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr18:61602224C>T	ENST00000238508.3	+	8	1001	c.942C>T	c.(940-942)gcC>gcT	p.A314A	AC009802.1_ENST00000599868.1_Intron	NM_005024.1	NP_005015.1			serpin peptidase inhibitor, clade B (ovalbumin), member 10											breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				TGAGTGATGCCTTCAGCCAAA	0.418000													17	29					0	0	0.000422831	0	0
STATH	6779	broad.mit.edu	37	4	70865523	70865523	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr4:70865523C>T	ENST00000246895.4	+	4	210	c.99C>T	c.(97-99)ttC>ttT	p.F33F	STATH_ENST00000381060.2_Intron	NM_003154.2	NP_003145.1	P02808	STAT_HUMAN	statherin	33			Missing (in statherin variants SV2 and SV3).		biomineral tissue development|negative regulation of bone mineralization|ossification|saliva secretion	extracellular region	extracellular matrix constituent, lubricant activity|hydroxyapatite binding|protein binding|structural constituent of tooth enamel			lung(2)|skin(1)	3						TTGGAAGATTCGGTGTAAGTG	0.308000													9	57					0	0	0.000673444	0	0
CSRNP1	64651	broad.mit.edu	37	3	39185825	39185825	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr3:39185825C>T	ENST00000273153.5	-	4	760	c.583G>A	c.(583-585)Gaa>Aaa	p.E195K	CSRNP1_ENST00000514182.1_Missense_Mutation_p.E195K	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1	195					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						AAGCTCACTTCTTCCAACCGG	0.637000													48	15					0	0	0.000781405	0	0
KRT18P55	284085	broad.mit.edu	37	17	26604334	26604334	+	RNA	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr17:26604334G>A	ENST00000577198.1	-	0	627					NR_028334.1																						GTAGTTGGTGGAGAGGGTGGA	0.557000													27	22					0	0	0.000878237	0	0
BAG4	9530	broad.mit.edu	37	8	38065273	38065273	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr8:38065273C>T	ENST00000287322.4	+	3	893	c.622C>T	c.(622-624)Ccg>Tcg	p.P208S	BAG4_ENST00000432471.2_Missense_Mutation_p.P172S	NM_004874.3	NP_004865.1	O95429	BAG4_HUMAN	BCL2-associated athanogene 4	208					anti-apoptosis|apoptosis|protein folding	cytoplasm|nucleus	receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	11	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)				TCCAGGATATCCGCCTTCACA	0.478000													43	26					0	0	0.00222228	0	0
SYNE1	23345	broad.mit.edu	37	6	152621837	152621837	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr6:152621837G>A	ENST00000367255.5	-	93	18222	c.17621C>T	c.(17620-17622)tCc>tTc	p.S5874F	SYNE1_ENST00000448038.1_Missense_Mutation_p.S5803F|SYNE1_ENST00000341594.5_Missense_Mutation_p.S5486F|SYNE1_ENST00000356820.4_Missense_Mutation_p.S398F|SYNE1_ENST00000423061.1_Missense_Mutation_p.S5803F|SYNE1_ENST00000265368.4_Missense_Mutation_p.S5874F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5874					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGGTGGAGAGGAAATCTCACT	0.532000										HNSCC(10;0.0054)			32	7					0	0	0.0024448	0	0
CDH17	1015	broad.mit.edu	37	8	95186112	95186112	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr8:95186112G>A	ENST00000027335.3	-	7	820	c.696C>T	c.(694-696)atC>atT	p.I232I	CDH17_ENST00000441892.2_Intron|CDH17_ENST00000450165.2_Silent_p.I232I	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	232	Cadherin 2.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CTGTCACTATGATATCCACAG	0.443000													64	78					0	0	0.000781405	0	0
FRG2B	441581	broad.mit.edu	37	10	135440205	135440205	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr10:135440205G>A	ENST00000443774.1	-	1	91	c.42C>T	c.(40-42)tcC>tcT	p.S14S	FRG2B_ENST00000425520.1_Silent_p.S14S			Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	14						nucleus				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		AGCACTGGATGGAGGAGCAGT	0.507000													26	191					0	0	0.00128727	0	0
TENM2	57451	broad.mit.edu	37	5	167642177	167642177	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr5:167642177G>A	ENST00000519204.1	+	20	3733	c.3615G>A	c.(3613-3615)tcG>tcA	p.S1205S	TENM2_ENST00000518659.1_Silent_p.S1326S|TENM2_ENST00000520394.1_Silent_p.S1087S|TENM2_ENST00000545108.1_Silent_p.S1325S|TENM2_ENST00000403607.2_Silent_p.S1150S					teneurin transmembrane protein 2																		CTGGGAATTCGGAAGTTGTGG	0.592000													14	108					0	0	0.00074312	0	0
TTN	7273	broad.mit.edu	37	2	179522854	179522854	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:179522854T>G	ENST00000589042.1	-	186	37966	c.37742A>C	c.(37741-37743)aAa>aCa	p.K12581T	TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10833	Ig-like 83.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGAATTTCTTTTTCTGCGGC	0.413000													19	65					0	0	0.000878237	0	0
SOGA2	23255	broad.mit.edu	37	18	8720455	8720455	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr18:8720455C>T	ENST00000359865.3	+	4	460	c.318C>T	c.(316-318)tcC>tcT	p.S106S	SOGA2_ENST00000517570.1_Silent_p.S106S|SOGA2_ENST00000400050.3_Silent_p.S106S|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000306329.11_Silent_p.S466S	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	457																	TGGAAATATCCAAACAGGCCC	0.488000													21	39					0	0	0.00278032	0	0
FRMD6	122786	broad.mit.edu	37	14	52179241	52179241	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr14:52179241G>A	ENST00000395718.2	+	9	1082	c.797G>A	c.(796-798)tGg>tAg	p.W266*	FRMD6_ENST00000356218.4_Nonsense_Mutation_p.W266*|FRMD6_ENST00000554167.1_Nonsense_Mutation_p.W197*|FRMD6_ENST00000344768.5_Nonsense_Mutation_p.W274*	NM_001267046.1|NM_152330.3	NP_001253975.1|NP_689543.1	Q96NE9	FRMD6_HUMAN	FERM domain containing 6	274	FERM.					cytoskeleton|mitochondrion|plasma membrane	binding			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)					GATTTCCCCTGGACAAATGTT	0.294000													7	25					0	0	0.000442599	0	0
SCN8A	6334	broad.mit.edu	37	12	52163097	52163097	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:52163097C>T	ENST00000354534.5	+	17	3528	c.3350C>T	c.(3349-3351)tCg>tTg	p.S1117L	SCN8A_ENST00000545061.1_Missense_Mutation_p.S1117L	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1117					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	AGCAGCGAGTCGGATCCTGAA	0.517000													12	22					0	0	0.00244969	0	0
LRRC24	441381	broad.mit.edu	37	8	145748575	145748575	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr8:145748575C>T	ENST00000529415.2	-	5	943	c.826G>A	c.(826-828)Gac>Aac	p.D276N	LRRC14_ENST00000292524.1_3'UTR|LRRC24_ENST00000533758.1_Missense_Mutation_p.D273N|LRRC14_ENST00000528528.1_3'UTR			Q50LG9	LRC24_HUMAN	leucine rich repeat containing 24	276	Ig-like C2-type.					integral to membrane				breast(2)|endometrium(1)|kidney(1)|lung(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			ACCCGCAGGTCCTCACCCAGG	0.682000													6	30					0	0	0.000157383	0	0
TAS1R3	83756	broad.mit.edu	37	1	1267915	1267915	+	Missense_Mutation	SNP	C	C	T	rs141843729		TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:1267915C>T	ENST00000339381.5	+	3	1036	c.1004C>T	c.(1003-1005)cCc>cTc	p.P335L		NM_152228.1	NP_689414.1	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	335					detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	CACGAGTTCCCCCAGTACGTG	0.692000													11	13					0	0	0.00185496	0	0
FRG1B	284802	broad.mit.edu	37	20	29625905	29625905	+	Missense_Mutation	SNP	T	T	C	rs137871677	by1000genomes	TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr20:29625905T>C	ENST00000278882.3	+	5	529	c.149T>C	c.(148-150)cTt>cCt	p.L50P	FRG1B_ENST00000439954.2_Missense_Mutation_p.L55P|FRG1B_ENST00000358464.4_Missense_Mutation_p.L50P														p.L50P(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGAAAATATCTTGGTATAAAT	0.333000													5	74					0	0	0.000602214	0	0
UPK2	7379	broad.mit.edu	37	11	118828857	118828857	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr11:118828857G>A	ENST00000264031.2	+	5	504	c.469G>A	c.(469-471)Gtg>Atg	p.V157M	UPK2_ENST00000534788.1_3'UTR	NM_006760.3	NP_006751.1	O00526	UPK2_HUMAN	uroplakin 2	157					cellular membrane organization|epithelial cell differentiation|multicellular organismal development	integral to endoplasmic reticulum membrane|integral to plasma membrane				kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.122)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		AGGGGGCATGGTGGTCATCAC	0.622000													26	12					0	0	0.00127121	0	0
FAM47C	442444	broad.mit.edu	37	X	37027692	37027692	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chrX:37027692C>T	ENST00000358047.3	+	1	1261	c.1209C>T	c.(1207-1209)ttC>ttT	p.F403F		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	403										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						CTCCTCTCTTCCCGGAGCCTC	0.612000													26	6					0	0	0.0024448	0	0
OSBPL8	114882	broad.mit.edu	37	12	76749802	76749802	+	Splice_Site	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:76749802C>T	ENST00000261183.3	-	24	3017		c.e24-1		OSBPL8_ENST00000393250.4_Splice_Site|OSBPL8_ENST00000393249.2_Splice_Site	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8						lipid transport		lipid binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						CATAATATTTCTATAAAAATA	0.328000													7	21					0	0	0.000274275	0	0
ACTN2	88	broad.mit.edu	37	1	236920792	236920792	+	Missense_Mutation	SNP	C	C	T	rs149433837	byFrequency	TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:236920792C>T	ENST00000366578.4	+	18	2327	c.2161C>T	c.(2161-2163)Cgt>Tgt	p.R721C	ACTN2_ENST00000542672.1_Missense_Mutation_p.R721C|ACTN2_ENST00000546208.1_Missense_Mutation_p.R215C	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	721					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			ATAGCACATTCGTGTTGGATG	0.502000													64	14					0	0	0.000781405	0	0
ATP6V1C2	245973	broad.mit.edu	37	2	10863030	10863030	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:10863030C>T	ENST00000381661.3	+	2	164	c.55C>T	c.(55-57)Ctg>Ttg	p.L19L	ATP6V1C2_ENST00000272238.4_Silent_p.L19L	NM_144583.3	NP_653184.2	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	19					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		TTTGCAAGCTCTGGAGAGGAT	0.438000													5	37					0	0	0.000602214	0	0
MGAM	8972	broad.mit.edu	37	7	141797419	141797419	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:141797419C>T	ENST00000475668.2	+	66	7773	c.7719C>T	c.(7717-7719)ttC>ttT	p.F2573F	MGAM_ENST00000549489.2_Silent_p.F1677F			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1677					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTGCATATTTCCCTAGAGCCC	0.393000													42	32					0	0	0.000781405	0	0
ZNF157	7712	broad.mit.edu	37	X	47271947	47271947	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chrX:47271947G>A	ENST00000377073.3	+	4	561	c.475G>A	c.(475-477)Gat>Aat	p.D159N		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	159					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						ACCCAGAGGAGATAAAAACTT	0.383000													28	2					0	0	0.00106085	0	0
CHRM2	1129	broad.mit.edu	37	7	136699707	136699707	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:136699707C>T	ENST00000445907.2	+	3	623	c.95C>T	c.(94-96)tCc>tTc	p.S32F	AC009264.1_ENST00000592183.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.S32F|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.S32F|AC009264.1_ENST00000593789.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.S32F|AC009264.1_ENST00000439694.1_RNA|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000597642.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.S32F|CHRM2_ENST00000401861.1_Missense_Mutation_p.S32F	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	32					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	GTGGCTGGATCCCTCAGTTTG	0.423000													30	84					0	0	0.00106085	0	0
FOXN2	3344	broad.mit.edu	37	2	48602121	48602121	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:48602121C>T	ENST00000340553.3	+	7	1096	c.835C>T	c.(835-837)Cat>Tat	p.H279Y		NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	forkhead box N2	279					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			CAATGCATTTCATCATCCCAG	0.408000													17	9					0	0	0.000422831	0	0
ARSF	416	broad.mit.edu	37	X	3030306	3030306	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chrX:3030306C>T	ENST00000381127.1	+	11	1703	c.1482C>T	c.(1480-1482)ttC>ttT	p.F494F	ARSF_ENST00000359361.2_Silent_p.F494F|ARSF_ENST00000537104.1_Silent_p.F494F	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	494						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCAGATGTTTCGGAGAACAGG	0.572000													55	12					0	0	0.000781405	0	0
SLC17A7	57030	broad.mit.edu	37	19	49934644	49934644	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:49934644G>A	ENST00000221485.3	-	10	1383	c.1212C>T	c.(1210-1212)gcC>gcT	p.A404A	SLC17A7_ENST00000600601.1_Silent_p.A337A|SLC17A7_ENST00000543531.1_Silent_p.A392A	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	404					glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		GGAAGGAGATGGCCACGCCCT	0.667000													12	51					0	0	0.000422831	0	0
HMBS	3145	broad.mit.edu	37	11	118960443	118960443	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr11:118960443C>T	ENST00000537841.1	+	6	557	c.266C>T	c.(265-267)cCt>cTt	p.P89L	HMBS_ENST00000534956.1_3'UTR|HMBS_ENST00000392841.1_Missense_Mutation_p.P89L|HMBS_ENST00000542729.1_Missense_Mutation_p.P89L|HMBS_ENST00000278715.3_Missense_Mutation_p.P106L|HMBS_ENST00000442944.2_Missense_Mutation_p.P89L|HMBS_ENST00000544387.1_Missense_Mutation_p.P106L|HMBS_ENST00000543090.1_Missense_Mutation_p.P88L			P08397	HEM3_HUMAN	hydroxymethylbilane synthase	106					peptidyl-pyrromethane cofactor linkage	cytosol	hydroxymethylbilane synthase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		GTGCTTCCTCCTGGCTTCACC	0.557000													12	4					0	0	0.000566183	0	0
SNX25	83891	broad.mit.edu	37	4	186244723	186244723	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr4:186244723C>T	ENST00000504273.1	+	9	1320	c.1026C>T	c.(1024-1026)ttC>ttT	p.F342F	SNX25_ENST00000264694.8_Silent_p.F342F|SNX25_ENST00000512853.1_3'UTR			Q9H3E2	SNX25_HUMAN	sorting nexin 25	342	RGS.				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		ATCAGAATTTCTTTGTGGAGA	0.303000													40	57					0	0	0.00170553	0	0
ZNF229	7772	broad.mit.edu	37	19	44934538	44934538	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:44934538G>A	ENST00000291187.4	-	6	722	c.400C>T	c.(400-402)Cat>Tat	p.H134Y	ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000588931.1_Missense_Mutation_p.H140Y|CTC-512J12.4_ENST00000588655.1_RNA	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	140					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				CACCCTTGATGGGGAGCAGCA	0.478000													27	72					0	0	0.001512	0	0
TAS1R3	83756	broad.mit.edu	37	1	1267914	1267914	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:1267914C>T	ENST00000339381.5	+	3	1035	c.1003C>T	c.(1003-1005)Ccc>Tcc	p.P335S		NM_152228.1	NP_689414.1	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	335					detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	GCACGAGTTCCCCCAGTACGT	0.692000													11	13					0	0	0.00185496	0	0
TSSC2	650368	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr11:3427765G>C	ENST00000529482.1	+	0	882																											CACACGTCCTGCAGTGGCCTG	0.602000													4	26					0	0	0.00024832	0	0
BTBD9	114781	broad.mit.edu	37	6	38312841	38312841	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr6:38312841T>C	ENST00000481247.1	-	7	1334	c.1183A>G	c.(1183-1185)Aca>Gca	p.T395A	BTBD9_ENST00000403056.1_Missense_Mutation_p.T395A|BTBD9_ENST00000419706.2_Missense_Mutation_p.T365A|BTBD9_ENST00000314100.6_Missense_Mutation_p.T327A|BTBD9_ENST00000408958.1_Missense_Mutation_p.T327A	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9	395					cell adhesion					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						TTGTTCACTGTGTTGTGAGTC	0.368000													19	126					0	0	0.00188189	0	0
OBSCN	84033	broad.mit.edu	37	1	228475527	228475527	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:228475527C>T	ENST00000570156.2	+	41	11038	c.10964C>T	c.(10963-10965)cCa>cTa	p.P3655L	OBSCN_ENST00000422127.1_Missense_Mutation_p.P3226L|OBSCN_ENST00000366707.4_Missense_Mutation_p.P345L|OBSCN_ENST00000366709.4_Missense_Mutation_p.P345L|OBSCN_ENST00000359599.6_Missense_Mutation_p.P2073L|OBSCN_ENST00000284548.11_Missense_Mutation_p.P3226L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2688	Ig-like 37.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GTCCTGAGGCCAGGTGACAAA	0.637000													31	51					0	0	0.000814825	0	0
AARS	16	broad.mit.edu	37	16	70291981	70291981	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr16:70291981G>A	ENST00000261772.8	-	15	2275	c.2132C>T	c.(2131-2133)tCt>tTt	p.S711F	AARS_ENST00000564359.1_Intron	NM_001605.2	NP_001596.2	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	711					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	AGCAGGCCCAGAGGGGTCATC	0.587000													6	7					0	0	0.000157383	0	0
LILRA3	11026	broad.mit.edu	37	19	54803746	54803746	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:54803746G>A	ENST00000391745.1	-	7	445	c.129C>T	c.(127-129)ctC>ctT	p.L43L	LILRA3_ENST00000391744.3_Silent_p.L26L|LILRA3_ENST00000251390.3_Silent_p.L26L					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3											NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGGGCTTGGGGAGGGGCCCTG	0.592000													27	37					0	0	0.00209593	0	0
DZANK1	55184	broad.mit.edu	37	20	18365133	18365133	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr20:18365133G>A	ENST00000357236.4	-	22	2486	c.1827C>T	c.(1825-1827)gaC>gaT	p.D609D	DZANK1_ENST00000487128.1_5'UTR|DZANK1_ENST00000262547.5_Silent_p.D723D|DZANK1_ENST00000329494.5_Silent_p.D701D|DZANK1_ENST00000377630.5_Silent_p.D556D			Q9NVP4	CT012_HUMAN	double zinc ribbon and ankyrin repeat domains 1	550						intracellular	zinc ion binding			NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						AGGTGACAAGGTCATCTCCAG	0.527000													12	14					0	0	0.00136819	0	0
EREG	2069	broad.mit.edu	37	4	75231042	75231042	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr4:75231042G>A	ENST00000244869.2	+	1	183	c.17G>A	c.(16-18)aGg>aAg	p.R6K		NM_001432.2	NP_001423.1	O14944	EREG_HUMAN	epiregulin	6					angiogenesis|cell-cell signaling|cytokine-mediated signaling pathway|epidermal growth factor receptor signaling pathway|female meiosis|keratinocyte differentiation|keratinocyte proliferation|luteinizing hormone signaling pathway|mRNA transcription|negative regulation of epithelial cell proliferation|negative regulation of smooth muscle cell differentiation|negative regulation of transcription, DNA-dependent|oocyte maturation|organ morphogenesis|ovarian cumulus expansion|ovulation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of DNA replication|positive regulation of epidermal growth factor receptor activity|positive regulation of fibroblast proliferation|positive regulation of innate immune response|positive regulation of interleukin-6 biosynthetic process|positive regulation of mitosis|positive regulation of phosphorylation|positive regulation of smooth muscle cell proliferation|primary follicle stage|wound healing	extracellular space|integral to plasma membrane	epidermal growth factor receptor binding|growth factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13			Lung(101;0.196)			GCGGGGAGGAGGATGGAGATG	0.701000													12	15					0	0	0.00136819	0	0
SCN9A	6335	broad.mit.edu	37	2	167056375	167056375	+	Splice_Site	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:167056375C>T	ENST00000303354.6	-	27	5118		c.e27-1		SCN9A_ENST00000375387.4_Splice_Site|SCN9A_ENST00000409672.1_Splice_Site|SCN9A_ENST00000409435.1_Splice_Site|AC010127.3_ENST00000447809.2_RNA			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit							voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	AGAAACATACCTGTATGTGGA	0.368000													20	37					0	0	0.00121646	0	0
INADL	10207	broad.mit.edu	37	1	62579761	62579761	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:62579761G>A	ENST00000371158.2	+	35	4612	c.4498G>A	c.(4498-4500)Gaa>Aaa	p.E1500K	INADL_ENST00000545929.1_Missense_Mutation_p.E145K|INADL_ENST00000543708.1_Missense_Mutation_p.E314K|INADL_ENST00000316485.6_Missense_Mutation_p.E1530K	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1500	PDZ 8.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CAGCCACGAAGAAGCCATCAC	0.567000													11	12					0	0	0.000978159	0	0
STON2	85439	broad.mit.edu	37	14	81743686	81743686	+	Missense_Mutation	SNP	G	G	A	rs143151987		TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr14:81743686G>A	ENST00000555447.1	-	6	2381	c.1969C>T	c.(1969-1971)Cac>Tac	p.H657Y	STON2_ENST00000267540.2_Missense_Mutation_p.H657Y	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	657	MHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		CGTGAGTTGTGGAAAACATCC	0.498000													6	22					0	0	0.00198382	0	0
APOBR	55911	broad.mit.edu	37	16	28509265	28509265	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr16:28509265C>T	ENST00000564831.1	+	2	2936	c.2903C>T	c.(2902-2904)aCg>aTg	p.T968M	APOBR_ENST00000431282.1_Missense_Mutation_p.T959M|APOBR_ENST00000328423.5_Missense_Mutation_p.T959M	NM_018690.3	NP_061160.3	Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	959					cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GAAGCCGAGACGGCTGAGGCC	0.652000													7	24					0	0	0.00198382	0	0
ZNF554	115196	broad.mit.edu	37	19	2833900	2833900	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:2833900G>T	ENST00000317243.5	+	5	865	c.667G>T	c.(667-669)Ggg>Tgg	p.G223W	ZNF554_ENST00000591265.1_3'UTR	NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	223					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCATGGATTTGGGGAAAATGG	0.512000													6	88					8.12818e-05	0.000353508	0.00198382	1	0
WDFY3	23001	broad.mit.edu	37	4	85611675	85611675	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr4:85611675G>A	ENST00000322366.6	-	60	9703	c.9296C>T	c.(9295-9297)aCc>aTc	p.T3099I	WDFY3_ENST00000295888.4_Missense_Mutation_p.T3116I			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3116						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GAGGGTGACGGTCTTGGCCTT	0.502000													44	69					0	0	0.000781405	0	0
PRKCD	5580	broad.mit.edu	37	3	53219703	53219703	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr3:53219703G>A	ENST00000394729.2	+	10	1300	c.972G>A	c.(970-972)ggG>ggA	p.G324G	PRKCD_ENST00000330452.3_Silent_p.G324G	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	324					activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		GAGTTGCTGGGGAGGACATGC	0.552000													64	14					0	0	0.000781405	0	0
FAM187B	148109	broad.mit.edu	37	19	35715983	35715983	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:35715983C>T	ENST00000324675.3	-	2	903	c.855G>A	c.(853-855)aaG>aaA	p.K285K		NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	285						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						GCACGAAGCACTTGTAGACGG	0.652000													8	20					0	0	0.000274275	0	0
SLC35G3	146861	broad.mit.edu	37	17	33520498	33520498	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr17:33520498C>T	ENST00000297307.5	-	1	914	c.829G>A	c.(829-831)Gcc>Acc	p.A277T		NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN	solute carrier family 35, member G3	277	DUF6 2.					integral to membrane											GCAGGGTGGGCCTTGGTGACC	0.577000													32	104					0	0	0.00283554	0	0
HIATL1	84641	broad.mit.edu	37	9	97177485	97177485	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr9:97177485A>G	ENST00000375344.3	+	2	423	c.154A>G	c.(154-156)Atc>Gtc	p.I52V		NM_032558.2	NP_115947.2	Q5SR56	HIAL1_HUMAN	hippocampus abundant transcript-like 1	52					transmembrane transport	integral to membrane|plasma membrane	protein binding|transporter activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	11		Acute lymphoblastic leukemia(62;0.136)				TGCTATTGTCATCTTCCTTGA	0.363000													51	235					0	0	0.000781405	0	0
TOB1	10140	broad.mit.edu	37	17	48940475	48940475	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr17:48940475G>A	ENST00000499247.2	-	2	1337	c.904C>T	c.(904-906)Cag>Tag	p.Q302*	TOB1_ENST00000268957.3_Nonsense_Mutation_p.Q302*	NM_001243885.1|NM_005749.3	NP_001230814.1|NP_005740.1	P50616	TOB1_HUMAN	transducer of ERBB2, 1	302					negative regulation of cell proliferation		SH3/SH2 adaptor activity			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)			TTACTGTACTGGAGAGGACTG	0.413000													55	46					0	0	0.000781405	0	0
ALOX15B	247	broad.mit.edu	37	17	7943218	7943218	+	Splice_Site	SNP	A	A	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr17:7943218A>T	ENST00000380183.4	+	3	506		c.e3-1		ALOX15B_ENST00000380173.2_Splice_Site|ALOX15B_ENST00000573359.1_Splice_Site|ALOX15B_ENST00000572022.1_Splice_Site	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B						induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						CTTCTCCCACAGCCAAGGTGT	0.617000													32	30					0	0	0.00128727	0	0
GRM5	2915	broad.mit.edu	37	11	88241888	88241888	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr11:88241888C>T	ENST00000418177.2	-	10	3878	c.3511G>A	c.(3511-3513)Gac>Aac	p.D1171N	GRM5-AS1_ENST00000526448.1_RNA|GRM5_ENST00000305447.4_Missense_Mutation_p.D1171N|GRM5_ENST00000393297.1_Missense_Mutation_p.D901N|GRM5_ENST00000455756.2_Missense_Mutation_p.D1139N|GRM5_ENST00000305432.5_Missense_Mutation_p.D1139N			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	1171					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TCCACCGAGTCTCTGAAGGGG	0.667000													8	1					0	0	0.000274275	0	0
TUBBP5	643224	broad.mit.edu	37	9	141070218	141070218	+	RNA	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr9:141070218C>T	ENST00000503395.1	+	0	1298																											AGCTCAAAATCCAGGAACGCT	0.617000													7	7					0	0	0.000274275	0	0
SLITRK6	84189	broad.mit.edu	37	13	86370073	86370073	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr13:86370073G>A	ENST00000400286.2	-	2	1169	c.571C>T	c.(571-573)Cgt>Tgt	p.R191C		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	191						integral to membrane		p.R191C(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TGATTTCCACGAAGATCTAGA	0.388000													66	110					0	0	0.000781405	0	0
LY86	9450	broad.mit.edu	37	6	6589038	6589038	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr6:6589038G>A	ENST00000379953.2	+	2	423	c.71G>A	c.(70-72)gGg>gAg	p.G24E	LY86_ENST00000230568.4_Missense_Mutation_p.G24E|LY86-AS1_ENST00000429345.1_RNA|LY86-AS1_ENST00000435641.1_RNA			O95711	LY86_HUMAN	lymphocyte antigen 86	24					apoptosis|cell proliferation|humoral immune response|inflammatory response|innate immune response	extracellular space|plasma membrane				large_intestine(2)|lung(6)	8	Ovarian(93;0.0377)					GGCGGCGGTGGGAAAGCCTGG	0.562000													15	108					0	0	0.000566183	0	0
FGF11	2256	broad.mit.edu	37	17	7346162	7346162	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr17:7346162G>A	ENST00000575331.1	+	3	2430	c.286G>A	c.(286-288)Gat>Aat	p.D96N	FGF11_ENST00000293829.4_Intron|RP11-104H15.8_ENST00000576615.1_RNA|FGF11_ENST00000575082.1_Intron|RP11-104H15.7_ENST00000575310.1_RNA|FGF11_ENST00000575398.1_Intron|FGF11_ENST00000572907.1_Intron|FGF11_ENST00000575235.1_Intron			Q92914	FGF11_HUMAN	fibroblast growth factor 11	0					cell-cell signaling|nervous system development|signal transduction		growth factor activity			central_nervous_system(1)|large_intestine(3)|ovary(1)|prostate(1)	6		Prostate(122;0.157)				TATTGACCTTGATATGGACAT	0.517000													20	16					0	0	0.00121646	0	0
ZP3	7784	broad.mit.edu	37	7	76063364	76063364	+	Silent	SNP	C	C	G			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:76063364C>G	ENST00000416245.1	+	4	1288	c.195C>G	c.(193-195)gtC>gtG	p.V65V	ZP3_ENST00000394857.3_Silent_p.V241V|ZP3_ENST00000336517.4_Silent_p.V190V			P21754	ZP3_HUMAN	zona pellucida glycoprotein 3 (sperm receptor)	241	ZP.				binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of T cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade	endoplasmic reticulum|extracellular space|Golgi apparatus|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix	acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						GCTGTCTTGTCGACGGTCTCA	0.537000													41	96					0	0	0.000781405	0	0
HAS1	3036	broad.mit.edu	37	19	52220346	52220346	+	Missense_Mutation	SNP	C	C	G	rs137939869		TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:52220346C>G	ENST00000540069.2	-	3	860	c.800G>C	c.(799-801)cGg>cCg	p.R267P	HAS1_ENST00000601714.1_Missense_Mutation_p.R275P|HAS1_ENST00000594621.1_Missense_Mutation_p.R122P|HAS1_ENST00000222115.1_Missense_Mutation_p.R268P			Q92839	HAS1_HUMAN	hyaluronan synthase 1	268					cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			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)		GTTAAGGATCCGCACGTCCCC	0.607000													10	32					0	0	0.00136819	0	0
KIAA2013	90231	broad.mit.edu	37	1	11985629	11985629	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:11985629C>T	ENST00000376572.3	-	1	851	c.666G>A	c.(664-666)ggG>ggA	p.G222G	KIAA2013_ENST00000376576.3_Silent_p.G222G	NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN	KIAA2013	222						integral to membrane				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CGGCAGTGGGCCCCACAGTCT	0.672000													12	10					0	0	0.00244969	0	0
TLL1	7092	broad.mit.edu	37	4	166976365	166976365	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr4:166976365G>A	ENST00000061240.2	+	13	2309	c.1662G>A	c.(1660-1662)atG>atA	p.M554I	TLL1_ENST00000507499.1_Missense_Mutation_p.M577I	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	554	CUB 2.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		CTTTGTGGATGAAGTTTGTTT	0.358000													29	55					0	0	0.000814825	0	0
FLG2	388698	broad.mit.edu	37	1	152328874	152328874	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:152328874G>A	ENST00000388718.5	-	3	1460	c.1388C>T	c.(1387-1389)tCc>tTc	p.S463F	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	463	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATAGCCCAAGGATTGACTTGA	0.507000													179	23					0	0	0.000781405	0	0
TCIRG1	10312	broad.mit.edu	37	11	67816651	67816651	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr11:67816651C>T	ENST00000265686.3	+	15	1885	c.1777C>T	c.(1777-1779)Ctg>Ttg	p.L593L	TCIRG1_ENST00000532635.1_Silent_p.L377L	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	593					ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						CTACAAGTGGCTGTGTGTCTG	0.607000													66	10					0	0	0.000781405	0	0
MAP7D1	55700	broad.mit.edu	37	1	36643603	36643603	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:36643603C>T	ENST00000316156.4	+	8	1851	c.1398C>T	c.(1396-1398)tcC>tcT	p.S466S	MAP7D1_ENST00000373148.4_Silent_p.S49S|MAP7D1_ENST00000373150.4_Silent_p.S471S|MAP7D1_ENST00000373151.2_Silent_p.S503S			Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	503						cytoplasm|spindle				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				CCACTGCATCCCCCAAGGGGC	0.697000													6	14					0	0	0.00116845	0	0
KRT82	3888	broad.mit.edu	37	12	52788947	52788947	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:52788947C>T	ENST00000257974.2	-	9	1431	c.1354G>A	c.(1354-1356)Gag>Aag	p.E452K	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	452	Tail.		E -> D (in dbSNP:rs1732263).			keratin filament	protein binding|structural constituent of epidermis			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		CCACATGGCTCGTACAGGAAG	0.617000													5	10					0	0	0.00116845	0	0
SRRM2	23524	broad.mit.edu	37	16	2815758	2815758	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr16:2815758C>T	ENST00000301740.8	+	11	5778	c.5229C>T	c.(5227-5229)cgC>cgT	p.R1743R		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1743	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GGTCTTCACGCCGACGGCGCT	0.602000													11	33					0	0	0.00136819	0	0
NRP1	8829	broad.mit.edu	37	10	33559629	33559629	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr10:33559629G>A	ENST00000265371.4	-	4	929	c.404C>T	c.(403-405)tCc>tTc	p.S135F	NRP1_ENST00000374816.3_Missense_Mutation_p.S135F|NRP1_ENST00000395995.1_Missense_Mutation_p.S135F|NRP1_ENST00000374821.5_Missense_Mutation_p.S135F|NRP1_ENST00000374823.5_Missense_Mutation_p.S135F|NRP1_ENST00000374867.2_Missense_Mutation_p.S135F|NRP1_ENST00000374822.4_Missense_Mutation_p.S135F			O14786	NRP1_HUMAN	neuropilin 1	135	CUB 1.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	ATAACGTATGGAAAATCCTGC	0.433000													31	13					0	0	0.000814825	0	0
IGLL1	3543	broad.mit.edu	37	22	23915751	23915751	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr22:23915751G>A	ENST00000330377.2	-	3	461	c.344C>T	c.(343-345)tCg>tTg	p.S115L	IGLL1_ENST00000249053.3_Silent_p.L76L	NM_020070.3	NP_064455.1	P15814	IGLL1_HUMAN	immunoglobulin lambda-like polypeptide 1	115	C region (By similarity to lambda light- chain).|Ig-like C1-type.				immune response	extracellular region|membrane				kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						CAGAGTGACCGAGGGGGTGGC	0.577000													25	29					0	0	0.000720815	0	0
ZNF527	84503	broad.mit.edu	37	19	37871224	37871224	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:37871224G>A	ENST00000436120.2	+	4	313	c.206G>A	c.(205-207)gGg>gAg	p.G69E	ZNF527_ENST00000587349.1_Missense_Mutation_p.G69E|ZNF527_ENST00000483919.1_Missense_Mutation_p.G69E	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	69	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTGGAGCAAGGGAAGGAACCG	0.483000													12	44					0	0	0.00185496	0	0
PCLO	27445	broad.mit.edu	37	7	82785179	82785179	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:82785179C>T	ENST00000423517.2	-	2	1115	c.778G>A	c.(778-780)Ggt>Agt	p.G260S	PCLO_ENST00000333891.8_Missense_Mutation_p.G260S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	260	Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			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						TGGGTAGGACCCTGAATTGGC	0.468000													28	36					0	0	0.001512	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69097044	69097044	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr4:69097044C>T	ENST00000332644.5	-	7	724	c.563G>A	c.(562-564)gGa>gAa	p.G188E		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	188	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						GGAGCTTTTTCCATTCACAAT	0.483000													41	71					0	0	0.0025221	0	0
CEP350	9857	broad.mit.edu	37	1	179991953	179991953	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:179991953C>T	ENST00000367607.3	+	13	3774	c.3356C>T	c.(3355-3357)tCg>tTg	p.S1119L		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1119	Ser-rich.					centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						ACTGGGACTTCGACAGAAAAA	0.403000													14	1					0	0	0.00244969	0	0
SLC2A14	144195	broad.mit.edu	37	12	7972128	7972128	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:7972128C>T	ENST00000543909.1	-	14	1849	c.1090G>A	c.(1090-1092)Gga>Aga	p.G364R	SLC2A14_ENST00000542505.1_Missense_Mutation_p.G5R|SLC2A14_ENST00000431042.2_Missense_Mutation_p.G341R|SLC2A14_ENST00000340749.5_Missense_Mutation_p.G341R|SLC2A14_ENST00000396589.2_Missense_Mutation_p.G364R|SLC2A14_ENST00000542546.1_Missense_Mutation_p.G255R|SLC2A14_ENST00000535295.1_Missense_Mutation_p.G255R|SLC2A14_ENST00000539924.1_Missense_Mutation_p.G379R			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	364					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		GCCATCCCTCCAAGGCCTATC	0.418000													49	52					0	0	0.000781405	0	0
SUSD1	64420	broad.mit.edu	37	9	114905867	114905867	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr9:114905867T>C	ENST00000374270.3	-	4	582	c.410A>G	c.(409-411)cAt>cGt	p.H137R	SUSD1_ENST00000374264.2_Missense_Mutation_p.H137R|SUSD1_ENST00000374263.3_Missense_Mutation_p.H137R|SUSD1_ENST00000482851.1_5'UTR	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	137	EGF-like 3; calcium-binding (Potential).					integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TCGCCCTCCATGCCTGCACAG	0.453000													24	187					0	0	0.000878237	0	0
GBP4	115361	broad.mit.edu	37	1	89662941	89662941	+	Silent	SNP	C	C	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:89662941C>A	ENST00000355754.6	-	2	184	c.87G>T	c.(85-87)gtG>gtT	p.V29V		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	29						cytoplasm	GTP binding|GTPase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		CCTGGTTTTCCACTAGACAAA	0.438000													17	46					7.07596e-05	0.000308111	0.00074312	1	0
B4GALT4	8702	broad.mit.edu	37	3	118937547	118937547	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr3:118937547G>A	ENST00000467604.1	-	6	1138	c.747C>T	c.(745-747)ttC>ttT	p.F249F	B4GALT4_ENST00000483209.1_Silent_p.F249F|B4GALT4_ENST00000359213.3_Silent_p.F249F|B4GALT4_ENST00000460321.1_Intron|B4GALT4_ENST00000393765.2_Silent_p.F249F|B4GALT4_ENST00000471675.1_Intron			O60513	B4GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	249					membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding|N-acetyllactosamine synthase activity			breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	AGTTGTTAGAGAATCCATTCA	0.498000													24	75					0	0	0.00047179	0	0
MUC16	94025	broad.mit.edu	37	19	8994416	8994416	+	Splice_Site	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:8994416C>T	ENST00000397910.4	-	64	41679		c.e64+1		MUC16_ENST00000380951.5_Splice_Site	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated						cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGGCTCTCACCAGGCCCTGA	0.562000													34	135					0	0	0.00111076	0	0
PCDHA3	56145	broad.mit.edu	37	5	140182967	140182967	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr5:140182967G>A	ENST00000522353.2	+	1	2185	c.2185G>A	c.(2185-2187)Gaa>Aaa	p.E729K	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.E729K|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCGCCAACCGAAGGCGACTG	0.632000													32	108					0	0	0.000692331	0	0
RASSF2	9770	broad.mit.edu	37	20	4768401	4768401	+	Splice_Site	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr20:4768401C>T	ENST00000379400.3	-	10	887		c.e10-1		RASSF2_ENST00000379376.2_Splice_Site|RASSF2_ENST00000478553.1_Intron	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2						cell cycle|signal transduction	nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						TTCTGTTTCTCTGCAACCACA	0.532000													18	21					0	0	0.00121646	0	0
LRP6	4040	broad.mit.edu	37	12	12315309	12315309	+	Silent	SNP	C	C	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:12315309C>A	ENST00000261349.4	-	10	2173	c.2097G>T	c.(2095-2097)gtG>gtT	p.V699V	LRP6_ENST00000543091.1_Silent_p.V699V	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	699	Beta-propeller 3.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CGAATTCTACCACATGTTCCA	0.443000													11	571					0.00185496	0.00804841	0.00185496	1	0
KLF3	51274	broad.mit.edu	37	4	38690514	38690514	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr4:38690514C>T	ENST00000261438.5	+	3	671	c.366C>T	c.(364-366)tcC>tcT	p.S122S	KLF3_ENST00000514033.1_Silent_p.S122S	NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	122	Pro-rich.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						TGCCGCTGTCCATGCCACCAG	0.637000													33	29					0	0	0.0024448	0	0
NPHP1	4867	broad.mit.edu	37	2	110922710	110922710	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:110922710C>T	ENST00000316534.4	-	7	720	c.647G>A	c.(646-648)gGc>gAc	p.G216D	NPHP1_ENST00000417665.1_Missense_Mutation_p.G216D|NPHP1_ENST00000393272.3_Missense_Mutation_p.G216D|NPHP1_ENST00000355301.4_Missense_Mutation_p.G154D|NPHP1_ENST00000445609.2_Missense_Mutation_p.G216D			O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	216	Glu-rich.				actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						TGACTCTTGGCCTTCTTCTTC	0.398000													33	43					0	0	0.00283554	0	0
EPHA7	2045	broad.mit.edu	37	6	94066482	94066482	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr6:94066482C>T	ENST00000369303.4	-	5	1461	c.1277G>A	c.(1276-1278)cGa>cAa	p.R426Q		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	426	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CCTCTGGGATCGGCTTAAGTC	0.418000													28	10					0	0	0.00209593	0	0
ABRA	137735	broad.mit.edu	37	8	107782392	107782392	+	Silent	SNP	C	C	T	rs138488793		TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr8:107782392C>T	ENST00000311955.3	-	1	81	c.27G>A	c.(25-27)ggG>ggA	p.G9G		NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	9					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			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			CTGGGCCCTCCCCGCTTTCCT	0.607000													13	87					0	0	0.000422831	0	0
SAMD15	161394	broad.mit.edu	37	14	77846786	77846786	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr14:77846786C>T	ENST00000216471.4	+	2	2036	c.1750C>T	c.(1750-1752)Ctc>Ttc	p.L584F	SAMD15_ENST00000533095.2_5'UTR	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	584	SAM.									breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTGCTCAAACCTCCCTCAGAT	0.428000													13	13					0	0	0.000308642	0	0
OTOA	146183	broad.mit.edu	37	16	21771827	21771827	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr16:21771827C>T	ENST00000388958.3	+	28	3387	c.3386C>T	c.(3385-3387)cCc>cTc	p.P1129L	OTOA_ENST00000388956.4_Missense_Mutation_p.P1050L|OTOA_ENST00000286149.4_Missense_Mutation_p.P1143L|OTOA_ENST00000388957.3_Missense_Mutation_p.P805L	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	1143					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		CTTGGTTGTCCCCTGCTGGTT	0.517000													12	76					0	0	0.00188189	0	0
FLG	2312	broad.mit.edu	37	1	152285396	152285396	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:152285396C>T	ENST00000368799.1	-	3	2001	c.1966G>A	c.(1966-1968)Ggc>Agc	p.G656S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	656	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCTGGAGCCATCTCTTGAC	0.547000									Ichthyosis				299	36					0	0	0.000781405	0	0
ADAD2	161931	broad.mit.edu	37	16	84228155	84228155	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr16:84228155C>T	ENST00000268624.3	+	3	835	c.742C>T	c.(742-744)Ctc>Ttc	p.L248F	ADAD2_ENST00000315906.5_Missense_Mutation_p.L176F|RP11-486L19.2_ENST00000536986.1_RNA|RP11-486L19.2_ENST00000561900.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA	NM_139174.3	NP_631913.3	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	176					RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						GCTCTCTGCCCTCTGCTACAT	0.647000													5	12					0	0	0.000602214	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84607212	84607212	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr9:84607212C>T	ENST00000344803.2	+	4	1874	c.1827C>T	c.(1825-1827)ccC>ccT	p.P609P		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		TTCATAGACCCCAGAACGAGG	0.498000													50	43					0	0	0.000781405	0	0
CAGE1	285782	broad.mit.edu	37	6	7365709	7365709	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr6:7365709C>T	ENST00000502583.1	-	9	2749	c.2185G>A	c.(2185-2187)Gat>Aat	p.D729N	CAGE1_ENST00000379918.4_Missense_Mutation_p.D707N|CAGE1_ENST00000338150.4_Missense_Mutation_p.D729N|CAGE1_ENST00000296742.7_Missense_Mutation_p.D566N|CAGE1_ENST00000512086.1_Missense_Mutation_p.D702N	NM_001170692.1	NP_001164163.1	Q8TC20	CAGE1_HUMAN	cancer antigen 1	702										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					ACCAAGAAATCAAGCTCCTCA	0.358000													16	39					0	0	0.000308642	0	0
PTGES2	80142	broad.mit.edu	37	9	130885305	130885305	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr9:130885305G>A	ENST00000338961.6	-	5	1539	c.795C>T	c.(793-795)gtC>gtT	p.V265V	PTGES2_ENST00000277462.5_Silent_p.V74V|PTGES2_ENST00000483625.1_5'UTR	NM_001256335.1|NM_025072.6	NP_001243264.1|NP_079348.1	Q9H7Z7	PGES2_HUMAN	prostaglandin E synthase 2	265	GST C-terminal.				cell redox homeostasis|prostaglandin biosynthetic process	Golgi membrane|integral to membrane|mitochondrion|perinuclear region of cytoplasm	electron carrier activity|prostaglandin-E synthase activity|protein binding|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(1)|lung(2)	4						TGCCCTCGCGGACAATGTAGT	0.622000													36	69					0	0	0.000814825	0	0
CRTC2	200186	broad.mit.edu	37	1	153920746	153920746	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:153920746A>C	ENST00000368633.1	-	14	2048	c.1921T>G	c.(1921-1923)Ttt>Gtt	p.F641V	CRTC2_ENST00000368630.3_Missense_Mutation_p.F321V	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	641					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GACACCTCAAAGCCAGGCACT	0.582000													27	98					0	0	0.00178596	0	0
SLC17A7	57030	broad.mit.edu	37	19	49934645	49934645	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:49934645G>A	ENST00000221485.3	-	10	1382	c.1211C>T	c.(1210-1212)gCc>gTc	p.A404V	SLC17A7_ENST00000600601.1_Missense_Mutation_p.A337V|SLC17A7_ENST00000543531.1_Missense_Mutation_p.A392V	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	404					glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		GAAGGAGATGGCCACGCCCTT	0.672000													12	49					0	0	0.000422831	0	0
LRP1B	53353	broad.mit.edu	37	2	141777525	141777525	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:141777525G>A	ENST00000389484.3	-	12	2907	c.1936C>T	c.(1936-1938)Cat>Tat	p.H646Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	646					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCTCTGGGATGAGACATTTCA	0.373000										TSP Lung(27;0.18)			12	35					0	0	0.00136819	0	0
KCNG4	93107	broad.mit.edu	37	16	84271081	84271081	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr16:84271081G>A	ENST00000568181.1	-	2	131	c.11C>T	c.(10-12)cCt>cTt	p.P4L	KCNG4_ENST00000308251.4_Missense_Mutation_p.P4L			Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	4						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						GTCTCTGGAAGGCATGGGCAT	0.572000													11	34					0	0	0.00136819	0	0
TMEM248	55069	broad.mit.edu	37	7	66413655	66413655	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:66413655C>T	ENST00000341567.4	+	4	825	c.570C>T	c.(568-570)gcC>gcT	p.A190A		NM_017994.4	NP_060464.1			transmembrane protein 248																		CCCTCACGGCCAGCCCTGGGG	0.602000													18	23					0	0	0.00121646	0	0
IQUB	154865	broad.mit.edu	37	7	123092855	123092855	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:123092855C>T	ENST00000466202.1	-	13	2894	c.2318G>A	c.(2317-2319)tGg>tAg	p.W773*	IQUB_ENST00000324698.6_Nonsense_Mutation_p.W773*			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	773										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						GTGATACTTCCATCTGATCTC	0.393000													37	30					0	0	0.00148497	0	0
PDILT	204474	broad.mit.edu	37	16	20373858	20373858	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr16:20373858C>T	ENST00000302451.4	-	10	1532	c.1284G>A	c.(1282-1284)gaG>gaA	p.E428E		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	428	Thioredoxin.				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TGCCCAATTCCTCCAACAGTG	0.463000													33	19					0	0	0.000814825	0	0
COL3A1	1281	broad.mit.edu	37	2	189868844	189868844	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:189868844G>A	ENST00000304636.3	+	39	2968	c.2798G>A	c.(2797-2799)gGa>gAa	p.G933E	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	933	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GGAGAGAAGGGATCGCCTGGT	0.493000													12	30					0	0	0.00185496	0	0
KCNH2	3757	broad.mit.edu	37	7	150648062	150648062	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr7:150648062C>T	ENST00000392968.2	-	6	2924	c.1804G>A	c.(1804-1806)Gag>Aag	p.E602K	KCNH2_ENST00000430723.3_Missense_Mutation_p.E698K|KCNH2_ENST00000330883.4_Missense_Mutation_p.E358K|KCNH2_ENST00000262186.5_Missense_Mutation_p.E698K			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	698					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	AAGTACTCCTCGAGGCGCTGG	0.652000													20	34					0	0	0.00278032	0	0
RP1	6101	broad.mit.edu	37	8	55540643	55540643	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr8:55540643C>T	ENST00000220676.1	+	4	4349	c.4201C>T	c.(4201-4203)Ctt>Ttt	p.L1401F		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1401					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CTCCTGTGGCCTTTGCCTAAG	0.318000													29	92					0	0	0.00209593	0	0
RRP1B	23076	broad.mit.edu	37	21	45107506	45107506	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr21:45107506G>A	ENST00000340648.4	+	13	1368	c.1251G>A	c.(1249-1251)ggG>ggA	p.G417G		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	417					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		CAGGCCCAGGGGGTGCAGCCC	0.582000													30	1					0	0	0.00106085	0	0
NELL2	4753	broad.mit.edu	37	12	45105169	45105169	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:45105169G>A	ENST00000429094.2	-	11	1599	c.1095C>T	c.(1093-1095)acC>acT	p.T365T	NELL2_ENST00000437801.2_Silent_p.T415T|NELL2_ENST00000452445.2_Silent_p.T365T|NELL2_ENST00000549027.1_Silent_p.T364T|NELL2_ENST00000551601.1_Silent_p.T364T|NELL2_ENST00000333837.4_Silent_p.T388T|NELL2_ENST00000395487.2_Silent_p.T364T	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	365	VWFC 2.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			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)		CAAGTTTCATGGTCTGGTCCT	0.398000													22	29					0	0	0.00229938	0	0
NYNRIN	57523	broad.mit.edu	37	14	24877078	24877078	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr14:24877078T>A	ENST00000382554.3	+	3	520	c.202T>A	c.(202-204)Tac>Aac	p.Y68N		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	68					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TGCCCAGGAATACCTGAAGGG	0.612000													8	28					0	0	0.000274275	0	0
SPATA21	374955	broad.mit.edu	37	1	16757814	16757814	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:16757814C>T	ENST00000375577.1	-	2	392	c.53G>A	c.(52-54)gGg>gAg	p.G18E	SPATA21_ENST00000466212.1_5'UTR|SPATA21_ENST00000540400.1_Intron|SPATA21_ENST00000335496.1_Intron			Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	19							calcium ion binding			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		TGGCTGCGTCCCTGGAGCCTT	0.567000													27	25					0	0	0.0024448	0	0
TRAJ7	28748	broad.mit.edu	37	14	23006597	23006597	+	RNA	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr14:23006597G>A	ENST00000390530.1	+	0	31																											TCGCTTTTGGGAAGGGGAACC	0.522000													10	37					0	0	0.000978159	0	0
SLC23A1	9963	broad.mit.edu	37	5	138707828	138707828	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr5:138707828C>T	ENST00000353963.3	-	14	1714	c.1676G>A	c.(1675-1677)aGa>aAa	p.R559K	SLC23A1_ENST00000348729.3_Missense_Mutation_p.R555K	NM_152685.3	NP_689898.2	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 1	555					brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process	apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction	dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	AAAGGTAATTCTTTTTACTAT	0.428000													26	90					0	0	0.000720815	0	0
CNTROB	116840	broad.mit.edu	37	17	7850949	7850949	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr17:7850949C>T	ENST00000380262.3	+	14	2979	c.2054C>T	c.(2053-2055)cCt>cTt	p.P685L	CNTROB_ENST00000380255.3_3'UTR|CNTROB_ENST00000565740.1_Missense_Mutation_p.P685L|CNTROB_ENST00000563694.1_Missense_Mutation_p.P685L	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	685	Pro-rich.|Required for centrosome localization.				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				AGGCCATTCCCTGAGGAAGAT	0.562000													28	76					0	0	0.000878237	0	0
MRPS7	51081	broad.mit.edu	37	17	73259559	73259559	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr17:73259559C>T	ENST00000579761.1	+	4	705	c.478C>T	c.(478-480)Ccc>Tcc	p.P160S	MRPS7_ENST00000579002.1_Missense_Mutation_p.P189S|MRPS7_ENST00000245539.6_Missense_Mutation_p.P160S			Q9Y2R9	RT07_HUMAN	mitochondrial ribosomal protein S7	160					translation	cytosolic small ribosomal subunit|mitochondrion	protein binding|RNA binding|structural constituent of ribosome			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)	6	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			TGGGCTGGTACCCATCCTCAA	0.532000													56	250					0	0	0.000781405	0	0
ZNF638	27332	broad.mit.edu	37	2	71592693	71592693	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:71592693C>T	ENST00000409544.1	+	6	2482	c.1852C>T	c.(1852-1854)Cca>Tca	p.P618S	ZNF638_ENST00000355812.3_Missense_Mutation_p.P618S|ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000377802.2_Missense_Mutation_p.P618S|ZNF638_ENST00000264447.4_Missense_Mutation_p.P618S	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	618					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TGGAACAAAACCATCAGTTAA	0.388000													7	11					0	0	0.000157383	0	0
PTPRB	5787	broad.mit.edu	37	12	71002959	71002959	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:71002959C>T	ENST00000334414.6	-	4	913	c.869G>A	c.(868-870)cGg>cAg	p.R290Q	PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000451516.2_Missense_Mutation_p.R72Q|PTPRB_ENST00000261266.5_Missense_Mutation_p.R72Q|PTPRB_ENST00000551525.1_Missense_Mutation_p.R289Q|PTPRB_ENST00000538708.1_Missense_Mutation_p.R72Q|PTPRB_ENST00000550857.1_Missense_Mutation_p.R72Q|PTPRB_ENST00000550358.1_Missense_Mutation_p.R290Q	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	72	Fibronectin type-III 4.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GTTGTCTATCCGAAAGGTAGG	0.463000													21	39					0	0	0.00229938	0	0
TCP10	6953	broad.mit.edu	37	6	167786842	167786842	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr6:167786842G>A	ENST00000397829.4	-	8	963	c.796C>T	c.(796-798)Cct>Tct	p.P266S	TCP10_ENST00000366827.2_Intron	NM_004610.3	NP_004601.3	Q12799	TCP10_HUMAN	t-complex 10	293						cytosol				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		GGGTTTACAGGAAGATTCTGC	0.483000													14	31					0	0	0.000566183	0	0
NDRG3	57446	broad.mit.edu	37	20	35282027	35282027	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr20:35282027G>A	ENST00000373803.2	-	17	1119	c.1063C>T	c.(1063-1065)Ccc>Tcc	p.P355S	NDRG3_ENST00000540765.1_Missense_Mutation_p.P238S|NDRG3_ENST00000373773.3_Missense_Mutation_p.P247S|NDRG3_ENST00000359675.2_Missense_Mutation_p.P330S|NDRG3_ENST00000349004.1_Missense_Mutation_p.P342S			Q9UGV2	NDRG3_HUMAN	NDRG family member 3	342					cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Myeloproliferative disorder(115;0.00878)				CGGCTGAAGGGACTTTCTCCA	0.562000													12	55					0	0	0.000308642	0	0
CYP4B1	1580	broad.mit.edu	37	1	47282822	47282822	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:47282822C>T	ENST00000271153.4	+	9	1209	c.1173C>T	c.(1171-1173)gtC>gtT	p.V391V	CYP4B1_ENST00000452782.2_Silent_p.V229V|CYP4B1_ENST00000371919.4_Silent_p.V377V|CYP4B1_ENST00000371923.4_Silent_p.V392V			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	391					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					GCAAGCCTGTCACCTTTGTGG	0.567000													29	30					0	0	0.00106085	0	0
KRT76	51350	broad.mit.edu	37	12	53170566	53170566	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:53170566C>T	ENST00000332411.2	-	1	563	c.510G>A	c.(508-510)gtG>gtA	p.V170V		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	170	Head.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGTCGATCTCCACATTGAGGG	0.557000													6	33					0	0	0.000157383	0	0
OTOGL	283310	broad.mit.edu	37	12	80729888	80729888	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:80729888G>A	ENST00000458043.2	+	38	4547	c.4541G>A	c.(4540-4542)aGt>aAt	p.S1514N	OTOGL_ENST00000547103.1_Missense_Mutation_p.S1502N	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CAAGTGAACAGTGATATCTGC	0.403000													21	14					0	0	0.00047179	0	0
UNC5D	137970	broad.mit.edu	37	8	35583765	35583765	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr8:35583765G>A	ENST00000287272.2	+	9	1212	c.1192G>A	c.(1192-1194)Gag>Aag	p.E398K	UNC5D_ENST00000449677.1_Missense_Mutation_p.E43K|UNC5D_ENST00000420357.1_Missense_Mutation_p.E400K|UNC5D_ENST00000404895.2_Missense_Mutation_p.E467K|UNC5D_ENST00000453357.2_Missense_Mutation_p.E462K|UNC5D_ENST00000416672.1_Missense_Mutation_p.E472K			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	467					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TCTGGACAAGGAGCTCATGAC	0.532000													35	36					0	0	0.00283554	0	0
DUOX2	50506	broad.mit.edu	37	15	45391942	45391942	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr15:45391942C>T	ENST00000389039.6	-	25	3718	c.3333G>A	c.(3331-3333)gaG>gaA	p.E1111E	DUOX2_ENST00000603300.1_Silent_p.E1111E			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1111	Ferric oxidoreductase.|Interaction with TXNDC11 (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TGAGGAAAGTCTCTCGCAGGA	0.567000													15	51					0	0	0.000308642	0	0
ESRRA	2101	broad.mit.edu	37	11	64074719	64074719	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr11:64074719C>T	ENST00000405666.1	+	2	302	c.68C>T	c.(67-69)cCa>cTa	p.P23L	ESRRA_ENST00000406310.1_Missense_Mutation_p.P23L|ESRRA_ENST00000000442.6_Missense_Mutation_p.P23L			P11474	ERR1_HUMAN	estrogen-related receptor alpha	23	Repressor domain.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						CCTGACAGTCCAAAGGGTTCC	0.647000													15	6					0	0	0.000422831	0	0
LRRC24	441381	broad.mit.edu	37	8	145748576	145748576	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr8:145748576C>T	ENST00000529415.2	-	5	942	c.825G>A	c.(823-825)gaG>gaA	p.E275E	LRRC14_ENST00000292524.1_3'UTR|LRRC24_ENST00000533758.1_Silent_p.E272E|LRRC14_ENST00000528528.1_3'UTR			Q50LG9	LRC24_HUMAN	leucine rich repeat containing 24	275	Ig-like C2-type.					integral to membrane				breast(2)|endometrium(1)|kidney(1)|lung(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CCCGCAGGTCCTCACCCAGGT	0.682000													6	30					0	0	0.000157383	0	0
PPP1R26	9858	broad.mit.edu	37	9	138377022	138377022	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr9:138377022C>T	ENST00000356818.2	+	4	1215	c.666C>T	c.(664-666)ttC>ttT	p.F222F	PPP1R26_ENST00000605660.1_Silent_p.F222F|PPP1R26_ENST00000604351.1_Silent_p.F222F|PPP1R26_ENST00000401470.3_Silent_p.F222F|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605286.1_Silent_p.F222F	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN	protein phosphatase 1, regulatory subunit 26	222						nucleolus	protein binding										ATGACTCCTTCGAGCAGAGCA	0.552000													31	81					0	0	0.000692331	0	0
SART3	9733	broad.mit.edu	37	12	108932790	108932790	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:108932790G>A	ENST00000228284.3	-	7	1216	c.982C>T	c.(982-984)Cgc>Tgc	p.R328C	SART3_ENST00000431469.2_Missense_Mutation_p.R328C	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	328					RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						AACTGAATGCGAGCAGGATCG	0.453000									Porokeratosis				14	19					0	0	0.00185496	0	0
ABCC12	94160	broad.mit.edu	37	16	48117931	48117931	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr16:48117931C>T	ENST00000311303.3	-	28	4227	c.3882G>A	c.(3880-3882)ctG>ctA	p.L1294L	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1294	ABC transporter 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TGTTCTGAACCAGGGTGTCAG	0.527000													23	76					0	0	0.00047179	0	0
NYNRIN	57523	broad.mit.edu	37	14	24884150	24884150	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr14:24884150G>A	ENST00000382554.3	+	9	3513	c.3195G>A	c.(3193-3195)ctG>ctA	p.L1065L		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1065					DNA integration	integral to membrane	DNA binding	p.L1065L(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CTCCCTACCTGGGCATCCCCT	0.637000													17	26					0	0	0.00074312	0	0
OPRK1	4986	broad.mit.edu	37	8	54141918	54141918	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr8:54141918C>T	ENST00000265572.3	-	4	1379	c.1082G>A	c.(1081-1083)cGa>cAa	p.R361Q	RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000524278.1_Missense_Mutation_p.R272Q|OPRK1_ENST00000520287.1_Missense_Mutation_p.R361Q	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	361					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding	p.R361Q(1)		NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	AACTGTATTTCGGACTCTGCT	0.478000													57	63					0	0	0.000781405	0	0
ESRRB	2103	broad.mit.edu	37	14	76928933	76928933	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr14:76928933C>T	ENST00000380887.2	+	3	515	c.443C>T	c.(442-444)aCc>aTc	p.T148I	ESRRB_ENST00000509242.1_Missense_Mutation_p.T148I|ESRRB_ENST00000556177.1_Missense_Mutation_p.T148I|ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000261532.7_Missense_Mutation_p.T148I			A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	148						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		TGCGAGATCACCAAACGGAGG	0.622000													26	25					0	0	0.000720815	0	0
CEP290	80184	broad.mit.edu	37	12	88486551	88486551	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:88486551G>A	ENST00000552810.1	-	29	3711	c.3368C>T	c.(3367-3369)gCt>gTt	p.A1123V	CEP290_ENST00000397838.3_Missense_Mutation_p.A183V|CEP290_ENST00000309041.7_Missense_Mutation_p.A1125V|CEP290_ENST00000547691.2_Missense_Mutation_p.A183V	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1123					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						CACACTATCAGCTAATTCATC	0.348000													34	125					0	0	0.00111076	0	0
NIPSNAP3A	25934	broad.mit.edu	37	9	107515294	107515294	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr9:107515294G>C	ENST00000374767.4	+	3	484	c.379G>C	c.(379-381)Gag>Cag	p.E127Q		NM_015469.1	NP_056284.1			nipsnap homolog 3A (C. elegans)											autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	8						ACAAGAGAGTGAGATTACTTA	0.373000													81	63					0	0	0.000781405	0	0
TTN	7273	broad.mit.edu	37	2	179466211	179466211	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:179466211C>T	ENST00000589042.1	-	287	55737	c.55513G>A	c.(55513-55515)Gac>Aac	p.D18505N	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D16864N|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D9565N|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D9632N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D15937N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D9440N|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16864	Ig-like 106.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.D15937N(1)|p.D9440N(1)|p.D9632N(1)|p.D9565N(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTCCATCGTCGTCTGGCATC	0.453000													26	94					0	0	0.00106085	0	0
DEAF1	10522	broad.mit.edu	37	11	674772	674772	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr11:674772G>A	ENST00000382409.3	-	10	1751	c.1267C>T	c.(1267-1269)Ctg>Ttg	p.L423L	DEAF1_ENST00000338675.6_Silent_p.L334L|RP11-754B17.1_ENST00000527799.1_RNA|DEAF1_ENST00000525904.1_5'UTR	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	423	Pro-rich.				embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		AGCGCAGGCAGGGATGTCAAC	0.557000													61	18					0	0	0.000781405	0	0
TTC7B	145567	broad.mit.edu	37	14	91124667	91124667	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr14:91124667G>A	ENST00000357056.2	-	10	1338	c.1217C>T	c.(1216-1218)tCc>tTc	p.S406F	TTC7B_ENST00000328459.6_Missense_Mutation_p.S406F			Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	406							binding			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				AGCCATCAGGGACAGAGCAAA	0.448000													24	36					0	0	0.000720815	0	0
DMXL1	1657	broad.mit.edu	37	5	118484982	118484982	+	Silent	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr5:118484982C>T	ENST00000311085.8	+	18	3540	c.3460C>T	c.(3460-3462)Ctg>Ttg	p.L1154L	DMXL1_ENST00000539542.1_Silent_p.L1154L	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1154										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)		TTCTCATATCCTGACTGTAGG	0.393000													26	107					0	0	0.000586117	0	0
LMF2	91289	broad.mit.edu	37	22	50945081	50945081	+	Silent	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr22:50945081G>A	ENST00000216080.5	-	3	456	c.288C>T	c.(286-288)ttC>ttT	p.F96F	LMF2_ENST00000505981.1_5'UTR|LMF2_ENST00000474879.2_Silent_p.F121F|LMF2_ENST00000380796.3_Silent_p.F121F			Q9BU23	LMF2_HUMAN	lipase maturation factor 2	121						endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGAAATAAAGGAACACCTGGC	0.652000													22	41					0	0	0.00106085	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209198165	209198165	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:209198165C>T	ENST00000264380.4	+	24	4248	c.4090C>T	c.(4090-4092)Cat>Tat	p.H1364Y		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1364					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TCACTCCATCCATCATGATTA	0.443000													11	35					0	0	0.000978159	0	0
ARID5B	84159	broad.mit.edu	37	10	63852296	63852296	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr10:63852296G>A	ENST00000279873.7	+	10	3484	c.3074G>A	c.(3073-3075)gGg>gAg	p.G1025E	ARID5B_ENST00000309334.5_Missense_Mutation_p.G782E	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	1025					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					GTGATTGCAGGGAAAAAGGCC	0.597000													50	16					0	0	0.000781405	0	0
MEGF6	1953	broad.mit.edu	37	1	3425693	3425693	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:3425693delC	ENST00000356575.4	-	12	1700	c.1474delG	c.(1474-1476)ccfs	p.A492fs	MEGF6_ENST00000294599.4_Frame_Shift_Del_p.A387fs	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	492						extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		TCCTCATCGGCCCCGACGTCG	0.687													2	4	---	---	---	---					
KCNA10	3744	broad.mit.edu	37	1	111061179	111061180	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr1:111061179_111061180delCT	ENST00000369771.2	-	1	617_618	c.230_231delAG	c.(229-231)gfs	p.E77fs		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	77						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		GGACCACTGGCTCAGGCCCTGG	0.550													25	64	---	---	---	---					
H3F3AP4	440926	broad.mit.edu	37	2	175585079	175585079	+	RNA	DEL	A	A	-			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:175585079delA	ENST00000442996.1	+	0	217																											TTTCATTCTCAAAAAAAAAAA	0.368											OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	4	---	---	---	---					
LOC728323	728323	broad.mit.edu	37	2	243056967	243056967	+	RNA	DEL	T	T	-			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr2:243056967delT	ENST00000456398.1	+	0	413																											CAGTGCTATCTTATGAAATAA	0.299													2	4	---	---	---	---					
MBD4	8930	broad.mit.edu	37	3	129155548	129155548	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr3:129155548delT	ENST00000429544.2	-	3	1134	c.939delA	c.(937-939)aafs	p.K313fs	MBD4_ENST00000249910.1_Frame_Shift_Del_p.K313fs|MBD4_ENST00000503197.1_Frame_Shift_Del_p.K313fs|MBD4_ENST00000393278.2_Intron|MBD4_ENST00000509587.1_Intron|MBD4_ENST00000507208.1_Frame_Shift_Del_p.K313fs	NM_001276270.1	NP_001263199.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	313					depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						ATGATCTTTCTTTTTTTTTTA	0.373								Base excision repair (BER), DNA glycosylases					10	120	---	---	---	---					
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977389	29977393	+	RNA	DEL	CTTCT	CTTCT	-			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr6:29977389_29977393delCTTCT	ENST00000376797.3	-	0	731				HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA																							AGAACCCTGACTTCTCTTTCTGCAA	0.488													11	41	---	---	---	---					
MYBPC3	4607	broad.mit.edu	37	11	47357487	47357487	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr11:47357487delG	ENST00000545968.1	-	26	2732	c.2678delC	c.(2677-2679)cafs	p.P893fs	MYBPC3_ENST00000256993.4_Frame_Shift_Del_p.P892fs|MYBPC3_ENST00000399249.2_Frame_Shift_Del_p.P893fs	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	892	Fibronectin type-III 2.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		CACGCGCTCTGGGGGCCGCCA	0.667													2	4	---	---	---	---					
CHD4	1108	broad.mit.edu	37	12	6711546	6711546	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:6711546delT	ENST00000309577.6	-	3	381	c.218delA	c.(217-219)agfs	p.K73fs	CHD4_ENST00000544040.1_Frame_Shift_Del_p.K73fs|CHD4_ENST00000544484.1_Frame_Shift_Del_p.K70fs|CHD4_ENST00000357008.2_Frame_Shift_Del_p.K73fs			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	73					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						ACTCACCTCCTTTTTTTGGCG	0.468													9	334	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49442494	49442494	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr12:49442494delA	ENST00000301067.7	-	13	4078	c.4079delT	c.(4078-4080)agfs	p.M1360fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GGTATTCTGCATGGTGTCATC	0.458													43	209	---	---	---	---					
TGIF1	7050	broad.mit.edu	37	18	3452223	3452223	+	Frame_Shift_Del	DEL	T	T	-	rs11571510		TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr18:3452223delT	ENST00000330513.5	+	1	549	c.246delT	c.(244-246)ccfs	p.P85fs	TGIF1_ENST00000407501.2_Intron|TGIF1_ENST00000405385.3_Intron|TGIF1_ENST00000401449.1_Intron|TGIF1_ENST00000345133.5_Intron|TGIF1_ENST00000343820.5_Intron|TGIF1_ENST00000577543.1_Intron|TGIF1_ENST00000551541.1_Intron|TGIF1_ENST00000548489.2_Intron|TGIF1_ENST00000551402.1_Intron	NM_170695.2	NP_733796.2	Q15583	TGIF1_HUMAN	TGFB-induced factor homeobox 1	85					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.P83fs*51(1)		cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)				GCGCCCCCCCTCCTCCACCGG	0.766													9	4	---	---	---	---					
IRGQ	126298	broad.mit.edu	37	19	44096700	44096703	+	Frame_Shift_Del	DEL	GAGC	GAGC	-			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr19:44096700_44096703delGAGC	ENST00000422989.1	-	3	1502_1505	c.1347_1350delGCTC	c.(1345-1350)gcfs	p.AL449fs	IRGQ_ENST00000601520.1_Intron|IRGQ_ENST00000602269.1_Frame_Shift_Del_p.AL449fs|L34079.2_ENST00000594374.1_Intron	NM_001007561.2	NP_001007562.1	Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	449	Ala-rich.						protein binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				GGGCTGGGGGGAGCGCTCGCCGCA	0.730													10	32	---	---	---	---					
KIZ-AS1	101929591	broad.mit.edu	37	20	21146788	21146789	+	RNA	INS	-	-	T	rs34056823		TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chr20:21146788_21146789insT	ENST00000591761.1	-	0	5051				PLK1S1_ENST00000457464.1_RNA																							tgtattttGTATTTTTTTTTTT	0.401													5	10	---	---	---	---					
SALL4P2	100130259	broad.mit.edu	37	X	129006479	129006479	+	RNA	DEL	T	T	-			TCGA-EB-A24D-01A-11D-A197-08	TCGA-EB-A24D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c884037-49f9-41c3-b0e5-9cbcd545aeb7	9147bffe-0ece-4015-be88-2d7d440060c0	g.chrX:129006479delT	ENST00000432062.1	-	0	293																											ATGCACTCCCTGTACCTGTCC	0.468													2	4	---	---	---	---