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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
RBM7	10179	broad.mit.edu	37	11	114278242	114278242	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr11:114278242C>T	uc001pow.3	+	4	527	c.517C>T	c.(517-519)Cca>Tca	p.P173S	RBM7_uc001pov.3_Missense_Mutation_p.P172S|RBM7_uc001pox.3_Missense_Mutation_p.P52S	NM_016090	NP_057174	Q9Y580	RBM7_HUMAN	Homo sapiens RNA binding motif protein 7 (RBM7), mRNA.	172					meiosis		RNA binding|nucleotide binding|protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348)		AGGATTTTCACCATCAGTTCA	0.408000														49			25		0	0	1	0	0
LRRC37A2	474170	broad.mit.edu	37	17	45127363	45127363	+	Silent	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr17:45127363G>A	uc010wkj.1	+	1	915	c.561G>A	c.(559-561)aaG>aaA	p.K187K	ARL17_uc021tzb.1_Intron|DQ597730_uc010wkl.2_Non-coding_Transcript			A6NM11	L37A2_HUMAN	Homo sapiens cDNA FLJ42521 fis, clone BRACE3000973.	1323						integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		AGGTCAAAAAGAGTCCAAAGT	0.438000														72			36		0	0	1	0	0
USP6	9098	broad.mit.edu	37	17	5064849	5064849	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr17:5064849C>T	uc002gau.1	+	31	5085	c.2855C>T	c.(2854-2856)cCa>cTa	p.P952L	USP6_uc002gav.1_Missense_Mutation_p.P952L|USP6_uc010ckz.1_Missense_Mutation_p.P635L	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	952					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|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						TATCAATATCCATTCACTCTA	0.398000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts									20			15		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179479390	179479390	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr2:179479390C>T	uc021vsy.1	-	209	41372	c.41147G>A	c.(41146-41148)gGa>gAa	p.G13716E	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Non-coding_Transcript|TTN_uc021vsz.1_Missense_Mutation_p.G7411E|TTN_uc021vta.1_Missense_Mutation_p.G7344E|TTN_uc021vtb.1_Missense_Mutation_p.G7219E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	14643	Ig-like 93.						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)			TTCAGGTTTTCCGGTTACGGT	0.438000														18			5		0	0	1	0	0
TACR3	6870	broad.mit.edu	37	4	104510867	104510868	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr4:104510867_104510868GG>AT	uc003hxe.1	-	4	1510_1511	c.1369_1370CC>AT	c.(1369-1371)ccc>ATc	p.P457I		NM_001059	NP_001050	P29371	NK3R_HUMAN	Homo sapiens tachykinin receptor 3 (TACR3), mRNA.	457						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		AGAGGTATAGGGTGAGCTTATG	0.450000														52			25		0	0	1	0	0
PSG7	5676	broad.mit.edu	37	19	43439669	43439669	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr19:43439669G>A	uc002ovl.4	-	2	416	c.314C>T	c.(313-315)tCc>tTc	p.S105F	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Intron	NM_002783	NP_002774	Q13046	PSG7_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA.	106	Ig-like V-type.				female pregnancy	extracellular region							Prostate(69;0.00682)				GATCAGCAGGGATGCATTGGA	0.433000														185			109		0	0	1	0	0
ADCY4	196883	broad.mit.edu	37	14	24798697	24798698	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr14:24798697_24798698CC>TT	uc001wow.3	-	8	1678_1679	c.1259_1260GG>AA	c.(1258-1260)ggg>gAA	p.G420E	ADCY4_uc010toh.2_Missense_Mutation_p.G106E|ADCY4_uc001wox.3_Missense_Mutation_p.G420E|ADCY4_uc001woy.3_Missense_Mutation_p.G420E	NM_001198568	NP_001185497	Q8NFM4	ADCY4_HUMAN	Homo sapiens adenylate cyclase 4 (ADCY4), transcript variant 3, mRNA.	420					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CAGCATAAGCCCCTGCCAGCAG	0.614000														35			19		0	0	1	0	0
ZNF76	7629	broad.mit.edu	37	6	35255471	35255471	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr6:35255471C>T	uc003oki.1	+	4	486	c.281C>T	c.(280-282)tCc>tTc	p.S94F	ZNF76_uc011dsy.1_Missense_Mutation_p.S94F|ZNF76_uc011dsz.1_Missense_Mutation_p.S94F|ZNF76_uc003okj.1_Missense_Mutation_p.S94F|ZNF76_uc011dsx.2_Missense_Mutation_p.S94F	NM_003427	NP_003418	P36508	ZNF76_HUMAN	Homo sapiens zinc finger protein 76 (ZNF76), mRNA.	94	3 X 12 AA approximate repeats.				regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						GAAGATGGCTCCACTGCCTAC	0.592000														44			25		0	0	1	0	0
SLC28A2	9153	broad.mit.edu	37	15	45556932	45556932	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr15:45556932A>G	uc001zva.2	+	6	733	c.668A>G	c.(667-669)tAt>tGt	p.Y223C		NM_004212	NP_004203	O43868	S28A2_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 2 (SLC28A2), mRNA.	223					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		GATCTTGGATATACTGTATTT	0.428000														40			12		0	0	1	0	0
ZNF597	146434	broad.mit.edu	37	16	3487175	3487175	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr16:3487175T>C	uc002cvd.3	-	3	708	c.524A>G	c.(523-525)cAg>cGg	p.Q175R		NM_152457	NP_689670	Q96LX8	ZN597_HUMAN	Homo sapiens zinc finger protein 597 (ZNF597), mRNA.	175					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						ATGAATTTTCTGATGCAAAAC	0.403000														91			60		0	0	1	0	0
NEU2	4759	broad.mit.edu	37	2	233899687	233899687	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr2:233899687G>A	uc010zmn.2	+	1	1063	c.1063G>A	c.(1063-1065)Gaa>Aaa	p.E355K		NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN	Homo sapiens sialidase 2 (cytosolic sialidase) (NEU2), mRNA.	355							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		GTGTCTGTACGAAGCCAATGA	0.577000														93			62		0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22154181	22154181	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr19:22154181G>A	uc021urr.1	-	3	3804	c.3655C>T	c.(3655-3657)Cat>Tat	p.H1219Y	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TCTCCAGTATGAATTTTCTTG	0.378000														22			13		0	0	1	0	0
PECR	55825	broad.mit.edu	37	2	216904052	216904052	+	Silent	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr2:216904052G>A	uc002vft.3	-	7	933	c.858C>T	c.(856-858)gaC>gaT	p.D286D	PECR_uc010zjq.2_Non-coding_Transcript	NM_018441	NP_060911	Q9BY49	PECR_HUMAN	Homo sapiens peroxisomal trans-2-enoyl-CoA reductase (PECR), mRNA.	286					fatty acid biosynthetic process|regulation of apoptosis	peroxisome	binding|trans-2-enoyl-CoA reductase (NADPH) activity			endometrium(2)|kidney(1)|liver(1)|lung(9)|stomach(1)	14		Renal(323;0.0327)		Epithelial(149;3.8e-06)|all cancers(144;0.000272)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Adenine(DB00173)	CAACAGAAAGGTCCCCTGCTC	0.483000														40			23		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140187629	140187629	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr5:140187629C>T	uc003lhi.2	+	0	958	c.857C>T	c.(856-858)tCg>tTg	p.S286L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Missense_Mutation_p.S286L|PCDHAC2_uc011daa.2_Missense_Mutation_p.S286L	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	301	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.S286L(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATGATATTTCGCCAAATGTG	0.313000														36			18		0	0	1	0	0
DIS3L	115752	broad.mit.edu	37	15	66615186	66615186	+	Silent	SNP	T	C	C			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr15:66615186T>C	uc010ujm.2	+	9	1503	c.1488T>C	c.(1486-1488)aaT>aaC	p.N496N	DIS3L_uc010ujl.1_Silent_p.N126N|DIS3L_uc002app.3_Silent_p.N413N|DIS3L_uc002apq.2_Silent_p.N496N|DIS3L_uc010bho.3_Silent_p.N362N	NM_001143688	NP_588616	Q8TF46	DI3L1_HUMAN	Homo sapiens DIS3 mitotic control homolog (S. cerevisiae)-like (DIS3L), transcript variant 1, mRNA.	496					rRNA catabolic process	cytoplasm|exosome (RNase complex)	RNA binding|exonuclease activity|protein binding|ribonuclease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CCTTAAATAATGGCAACCTGG	0.408000														24			11		0	0	1	0	0
RPL21	6144	broad.mit.edu	37	13	27829489	27829489	+	Silent	SNP	T	C	C			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr13:27829489T>C	uc001ura.3	+	3	283	c.240T>C	c.(238-240)gtT>gtC	p.V80V	RPL21_uc001uqz.1_Silent_p.V38V|SNORA27_uc001urc.1_5'Flank	NM_000982	NP_000973	P46778	RL21_HUMAN	Homo sapiens ribosomal protein L21 (RPL21), mRNA.	80					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome			large_intestine(1)|lung(1)	2		Lung SC(185;0.0156)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0287)|OV - Ovarian serous cystadenocarcinoma(117;0.118)|Epithelial(112;0.139)|GBM - Glioblastoma multiforme(144;0.21)		ACAAACAAGTTAAGTAAGTAG	0.403000														40			37		0	0	1	0	0
HNF4G	3174	broad.mit.edu	37	8	76459901	76459901	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr8:76459901G>A	uc003yaq.3	+	3	496	c.226G>A	c.(226-228)Gga>Aga	p.G76R	HNF4G_uc003yap.1_Missense_Mutation_p.G76R|HNF4G_uc003yar.3_Missense_Mutation_p.G113R	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	Homo sapiens hepatocyte nuclear factor 4, gamma (HNF4G), mRNA.	76					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			TTTTAGAGCGGGAATGAAAAA	0.289000														29			11		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883353	228883353	+	Silent	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr2:228883353C>T	uc002vpq.2	-	6	2264	c.2217G>A	c.(2215-2217)aaG>aaA	p.K739K	SPHKAP_uc002vpp.2_Silent_p.K739K|SPHKAP_uc010zlx.1_Silent_p.K739K	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	739						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TGATGGTCTCCTTAGAAAGGA	0.473000														62			34		0	0	1	0	0
FAM221B	392307	broad.mit.edu	37	9	35826156	35826156	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr9:35826156C>T	uc010mlc.2	-	1	288	c.3G>A	c.(1-3)atG>atA	p.M1I	FAM221B_uc003zyj.2_Non-coding_Transcript|FAM221B_uc011lpg.1_Missense_Mutation_p.M1I	NM_001012446	NP_001012448	A6H8Z2	CI128_HUMAN	Homo sapiens chromosome 9 open reading frame 128 (C9orf128), mRNA.	1										endometrium(2)|kidney(1)|lung(4)	7						CATGTGCTTCCATCTAGTGGT	0.507000											OREG0019180	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		21			12		0	0	1	0	0
CCNJL	79616	broad.mit.edu	37	5	159682595	159682595	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr5:159682595G>A	uc003lyb.1	-	5	1100	c.848C>T	c.(847-849)tCc>tTc	p.S283F	CCNJL_uc011dee.1_Missense_Mutation_p.S235F|CCNJL_uc003lyc.1_Non-coding_Transcript|CCNJL_uc011def.1_Missense_Mutation_p.S235F	NM_024565	NP_078841	Q8IV13	CCNJL_HUMAN	Homo sapiens cyclin J-like (CCNJL), mRNA.	283						nucleus				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTGCTCCAGGGAATAGCTTGA	0.542000														76			42		0	0	1	0	0
RNF150	57484	broad.mit.edu	37	4	142053612	142053612	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr4:142053612C>T	uc003iio.1	-	0	1005	c.351G>A	c.(349-351)tgG>tgA	p.W117*	RNF150_uc010iok.1_Nonsense_Mutation_p.W117*|RNF150_uc003iip.1_Nonsense_Mutation_p.W117*	NM_020724	NP_065775	Q9ULK6	RN150_HUMAN	Homo sapiens ring finger protein 150 (RNF150), mRNA.	117	PA.					integral to membrane	zinc ion binding	p.S117L(2)		breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					TGAGGGCTATCCAGTTCTTGC	0.657000														12			8		0	0	1	0	0
TNS1	7145	broad.mit.edu	37	2	218712620	218712620	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr2:218712620G>A	uc002vgt.2	-	16	2643	c.2245C>T	c.(2245-2247)Ctc>Ttc	p.L749F	TNS1_uc002vgr.2_Missense_Mutation_p.L749F|TNS1_uc002vgs.2_Missense_Mutation_p.L749F|TNS1_uc010zjv.1_Missense_Mutation_p.L749F|TNS1_uc010fvj.1_Missense_Mutation_p.L817F|TNS1_uc010fvk.1_Missense_Mutation_p.L874F|TNS1_uc010fvi.1_Missense_Mutation_p.L436F	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	Homo sapiens tensin 1 (TNS1), mRNA.	749						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GATCCAGAGAGGGGCTGGGAG	0.657000														16			5		0	0	1	0	0
FLJ43860	389690	broad.mit.edu	37	8	142506556	142506556	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr8:142506556C>T	uc003ywi.2	-	1	207	c.126G>A	c.(124-126)atG>atA	p.M42I	FLJ43860_uc011ljs.1_5'Flank|FLJ43860_uc010meu.1_5'Flank	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	Homo sapiens FLJ43860 protein (FLJ43860), mRNA.	42							binding					all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GGTGTACCTTCATGCAAGATG	0.567000														19			13		0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56515291	56515291	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr19:56515291C>T	uc002qmj.3	+	1	272	c.272C>T	c.(271-273)tCg>tTg	p.S91L	NLRP5_uc002qmi.3_Missense_Mutation_p.S91L	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	91	DAPIN.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TCTTCAGAATCGACCACATGC	0.453000														16			11		0	0	1	0	0
DGKG	1608	broad.mit.edu	37	3	186006556	186006556	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr3:186006556C>T	uc003fqa.3	-	5	1024	c.487G>A	c.(487-489)Gat>Aat	p.D163N	DGKG_uc003fqb.3_Missense_Mutation_p.D163N|DGKG_uc003fqc.3_Missense_Mutation_p.D163N|DGKG_uc011brx.2_Missense_Mutation_p.D163N	NM_001346	NP_001337	P49619	DGKG_HUMAN	Homo sapiens diacylglycerol kinase, gamma 90kDa (DGKG), transcript variant 1, mRNA.	163					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	CACACAACATCCTTCAGGTAT	0.577000														109			58		0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80044361	80044361	+	Silent	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr17:80044361G>A	uc002kdu.3	-	21	3618	c.3501C>T	c.(3499-3501)gcC>gcT	p.A1167A	FASN_uc002kdw.1_Silent_p.A383A	NM_004104	NP_004095	P49327	FAS_HUMAN	Homo sapiens fatty acid synthase (FASN), mRNA.	1167					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	Golgi apparatus|cytosol|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GGGGGATCTGGGCCCCATCCA	0.687000														21			11		0	0	1	0	0
KRT25	147183	broad.mit.edu	37	17	38906841	38906841	+	Silent	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr17:38906841G>A	uc002hve.3	-	5	1027	c.966C>T	c.(964-966)tcC>tcT	p.S322S		NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN	Homo sapiens keratin 25 (KRT25), mRNA.	322	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				AGCACTCCAGGGAGTGTTTCT	0.498000														89			46		0	0	1	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83352802	83352802	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chrX:83352802G>A	uc004eej.2	-	18	1867	c.1831C>T	c.(1831-1833)Ctt>Ttt	p.L611F	RPS6KA6_uc011mqt.2_Missense_Mutation_p.L611F|RPS6KA6_uc011mqu.2_Missense_Mutation_p.L508F	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 6 (RPS6KA6), mRNA.	611	Protein kinase 2.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.L611L(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						GTGTAAAAAAGGACTCCTAAA	0.313000														81			51		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168678429	168678429	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr5:168678429T>C	uc010jjg.3	-	1	652	c.232A>G	c.(232-234)Aag>Gag	p.K78E	SLIT3_uc003mab.3_Missense_Mutation_p.K78E|SLIT3_uc010jji.2_Missense_Mutation_p.K78E	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	78					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAGTCCATCTTGGTGATCCTG	0.418000														33			9		0	0	1	0	0
CCBP2	1238	broad.mit.edu	37	3	42906332	42906332	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr3:42906332G>A	uc003cme.3	+	2	516	c.338G>A	c.(337-339)gGg>gAg	p.G113E	CCBP2_uc003cmf.3_Missense_Mutation_p.G113E|CCBP2_uc003cmg.3_Intron|CCBP2_uc021wwm.1_Missense_Mutation_p.G113E	NM_001296	NP_001287	O00590	CCBP2_HUMAN	Homo sapiens chemokine binding protein 2 (CCBP2), mRNA.	113					chemotaxis|immune response|multicellular organismal development	integral to plasma membrane	C-X-C chemokine receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(10)|skin(2)|urinary_tract(1)	26				KIRC - Kidney renal clear cell carcinoma(284;0.241)		TGGGTCTTCGGGAGTTTCTTG	0.478000														73			52		0	0	1	0	0
KIF27	55582	broad.mit.edu	37	9	86506413	86506413	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr9:86506413C>T	uc004ana.3	-	5	1750	c.1606G>A	c.(1606-1608)Gaa>Aaa	p.E536K	KIF27_uc010mpw.3_Missense_Mutation_p.E536K|KIF27_uc010mpx.3_Missense_Mutation_p.E536K	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	Homo sapiens kinesin family member 27 (KIF27), mRNA.	536					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						ATTATTTTTTCATTCTTTGTA	0.284000														7			9		0	0	1	0	0
WDR18	57418	broad.mit.edu	37	19	994337	994337	+	Silent	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr19:994337C>T	uc002lqm.1	+	9	1319	c.1293C>T	c.(1291-1293)gcC>gcT	p.A431A		NM_024100	NP_077005	Q9BV38	WDR18_HUMAN	Homo sapiens WD repeat domain 18 (WDR18), mRNA.	431								p.P430L(1)		endometrium(1)|kidney(2)|lung(2)|skin(2)	7		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCGGCCGGCCAAGTGAGGCC	0.711000														14			8		0	0	1	0	0
WWC3	55841	broad.mit.edu	37	X	10094318	10094318	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chrX:10094318T>C	uc004csx.4	+	14	2276	c.2078T>C	c.(2077-2079)gTg>gCg	p.V693A	WWC3_uc010nds.3_Missense_Mutation_p.V357A|WWC3_uc010ndt.3_Non-coding_Transcript	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	Homo sapiens WWC family member 3 (WWC3), mRNA.	693	C2.									NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						GTGTGTTCAGTGACTCCGCAG	0.547000														60			38		0	0	1	0	0
LRG1	116844	broad.mit.edu	37	19	4537995	4537995	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr19:4537995G>A	uc002mau.3	-	1	1012	c.1001C>T	c.(1000-1002)gCc>gTc	p.A334V	PLIN5_uc002mas.3_5'Flank|PLIN5_uc002mat.1_Intron	NM_052972	NP_443204	P02750	A2GL_HUMAN	Homo sapiens leucine-rich alpha-2-glycoprotein 1 (LRG1), mRNA.	334	LRRCT.					extracellular region|membrane				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCTTCACGGCTTCAGGCCC	0.582000														19			16		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7565663	7565663	+	Silent	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr6:7565663C>T	uc003mxp.1	+	6	1128	c.849C>T	c.(847-849)atC>atT	p.I283I	DSP_uc003mxq.1_Silent_p.I283I|DSP_uc021yle.1_Silent_p.I283I	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	283	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CCAGGGAGATCATGTGGATCA	0.527000														29			18		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38793718	38793718	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr3:38793718C>T	uc003ciq.3	-	10	1747	c.1747G>A	c.(1747-1749)Gat>Aat	p.D583N		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	583					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	ACCGAGACATCGACAGCTCCA	0.552000														27			21		0	0	1	0	0
DNAAF1	123872	broad.mit.edu	37	16	84209775	84209775	+	Silent	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr16:84209775C>T	uc002fhl.4	+	10	2116	c.1935C>T	c.(1933-1935)ccC>ccT	p.P645P	DNAAF1_uc010vnw.2_Silent_p.P409P	NM_178452	NP_848547	Q8NEP3	DAAF1_HUMAN	Homo sapiens dynein, axonemal, assembly factor 1 (DNAAF1), mRNA.	645					axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						CCCCAAGACCCCTGATCCAGG	0.557000														15			8		0	0	1	0	0
ZC3HAV1L	92092	broad.mit.edu	37	7	138719370	138719370	+	Silent	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr7:138719370C>T	uc003vum.1	-	1	432	c.420G>A	c.(418-420)ctG>ctA	p.L140L		NM_080660	NP_542391	Q96H79	ZCCHL_HUMAN	Homo sapiens zinc finger CCCH-type, antiviral 1-like (ZC3HAV1L), mRNA.	140										NS(2)|endometrium(2)|large_intestine(1)|lung(4)|skin(1)	10						CATGGCTTTTCAGGACCTGCA	0.488000														20			12		0	0	1	0	0
ZNF581	51545	broad.mit.edu	37	19	56156226	56156226	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr19:56156226G>A	uc002qln.3	+	1	562	c.289G>A	c.(289-291)Gag>Aag	p.E97K	ZNF581_uc002qlq.3_Missense_Mutation_p.E97K|ZNF581_uc021vcb.1_Missense_Mutation_p.E97K|CCDC106_uc002qlr.3_5'Flank|CCDC106_uc021vcc.1_5'Flank|CCDC106_uc021vcd.1_5'Flank	NM_016535	NP_057619	Q9P0T4	ZN581_HUMAN	Homo sapiens zinc finger protein 581 (ZNF581), mRNA.	97					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E97K(2)		large_intestine(1)|lung(1)|ovary(1)	3		Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		AAGGGTCTTCGAGTACATGTC	0.592000														36			24		0	0	1	0	0
AMOTL2	51421	broad.mit.edu	37	3	134079153	134079154	+	Silent	DNP	GG	AA	AA			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr3:134079153_134079154GG>AA	uc003eqf.2	-	6	1968_1969	c.1851_1852CC>TT	c.(1849-1854)atcctg>atTTtg	p.617_618IL>IL	AMOTL2_uc003eqg.1_Silent_p.559_560IL>IL|AMOTL2_uc003eqh.1_Silent_p.557_558IL>IL|AMOTL2_uc003eqe.1_Silent_p.184_185IL>IL	NM_016201	NP_057285	Q9Y2J4	AMOL2_HUMAN	Homo sapiens angiomotin like 2 (AMOTL2), mRNA.	559										endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						TCCAGCGCCAGGATCTGCTCCT	0.614000														22			10		0	0	1	0	0
SUN3	256979	broad.mit.edu	37	7	48068433	48068433	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr7:48068433C>T	uc003tof.3	-	1	200	c.103G>A	c.(103-105)Gaa>Aaa	p.E35K	SUN3_uc003tog.3_Missense_Mutation_p.E35K|SUN3_uc011kcf.2_5'UTR	NM_152782	NP_689995	Q8TAQ9	SUN3_HUMAN	Homo sapiens Sad1 and UNC84 domain containing 3 (SUN3), transcript variant 2, mRNA.	35						integral to membrane				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCAGGATTTTCGTCCTCTGAT	0.458000														50			27		0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20739463	20739463	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr7:20739463G>A	uc010kuh.3	+	17	2407	c.2170G>A	c.(2170-2172)Gat>Aat	p.D724N	ABCB5_uc003suw.4_Missense_Mutation_p.D279N	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	279	ABC transporter 2.				regulation of membrane potential	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			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						TGGAAATAATGATAAAACCAC	0.303000														19			10		0	0	1	0	0
BAHD1	22893	broad.mit.edu	37	15	40751526	40751526	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr15:40751526C>T	uc001zlu.2	+	1	934	c.863C>T	c.(862-864)cCt>cTt	p.P288L	BAHD1_uc001zlt.2_Missense_Mutation_p.P288L|BAHD1_uc010bbp.1_Missense_Mutation_p.P288L|BAHD1_uc001zlv.2_Missense_Mutation_p.P288L	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN	Homo sapiens bromo adjacent homology domain containing 1 (BAHD1), mRNA.	288	Pro-rich.				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	DNA binding|chromatin binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		TCTGCAACTCCTTGTGGGCCA	0.642000														26			22		0	0	1	0	0
GPRC6A	222545	broad.mit.edu	37	6	117114236	117114236	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr6:117114236C>T	uc003pxj.1	-	5	1872	c.1850G>A	c.(1849-1851)aGa>aAa	p.R617K	GPRC6A_uc003pxk.1_Missense_Mutation_p.R442K|GPRC6A_uc003pxl.1_Missense_Mutation_p.R546K	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	617					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GTTCAGGTTTCTTGTAAATAT	0.428000														10			29		0	0	1	0	0
RNF128	79589	broad.mit.edu	37	X	106016299	106016299	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chrX:106016299C>T	uc004eml.3	+	1	891	c.641C>T	c.(640-642)tCc>tTc	p.S214F	RNF128_uc004emk.3_Missense_Mutation_p.S188F	NM_194463	NP_919445	Q8TEB7	RN128_HUMAN	Homo sapiens ring finger protein 128 (RNF128), transcript variant 1, mRNA.	214				S -> P (in Ref. 1; AAK77554).		endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						GTTTCTGTGTCCTTTTTTATT	0.393000														56			22		0	0	1	0	0
SYT3	84258	broad.mit.edu	37	19	51132756	51132756	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr19:51132756G>A	uc002pst.3	-	3	1710	c.1076C>T	c.(1075-1077)aCc>aTc	p.T359I	SYT3_uc002psv.3_Missense_Mutation_p.T359I|SYT3_uc010ycd.2_Missense_Mutation_p.T359I	NM_032298	NP_115674	Q9BQG1	SYT3_HUMAN	Homo sapiens synaptotagmin III (SYT3), transcript variant 1, mRNA.	359	C2 1.					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		GGGGTTCAGGGTCTTCCTGTG	0.607000														15			8		0	0	1	0	0
SCML2	10389	broad.mit.edu	37	X	18283722	18283722	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chrX:18283722G>A	uc004cyl.2	-	7	1088	c.931C>T	c.(931-933)Cca>Tca	p.P311S	SCML2_uc004cyk.3_Non-coding_Transcript|SCML2_uc010nfd.1_Missense_Mutation_p.P311S|SCML2_uc011miz.1_Missense_Mutation_p.P245S|SCML2_uc010nfc.2_Missense_Mutation_p.P47S	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN	Homo sapiens sex comb on midleg-like 2 (Drosophila) (SCML2), transcript variant 1, mRNA.	311					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					CCTGAGTTTGGACCTTTTTTC	0.353000														63			46		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240370455	240370455	+	Silent	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr1:240370455C>T	uc010pye.2	+	5	2580	c.2355C>T	c.(2353-2355)ttC>ttT	p.F785F	FMN2_uc010pyd.2_Silent_p.F781F	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	781	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AGACAAAGTTCTGTTCAGAGA	0.582000														30			23		0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70332969	70332969	+	Silent	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr11:70332969G>A	uc001oqc.3	-	20	3343	c.3231C>T	c.(3229-3231)tcC>tcT	p.S1077S	SHANK2_uc010rqn.2_Silent_p.S553S|SHANK2_uc001opz.3_Silent_p.S548S|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	764					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TCGGCATGGGGGATGACAGCT	0.682000														34			19		0	0	1	0	0
SLC52A2	79581	broad.mit.edu	37	8	145583947	145583947	+	Silent	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr8:145583947C>T	uc003zcc.2	+	2	959	c.795C>T	c.(793-795)gaC>gaT	p.D265D	FBXL6_uc003zbz.3_5'Flank|FBXL6_uc003zca.3_5'Flank|FBXL6_uc003zcb.3_5'Flank|FBXL6_uc010mfx.3_5'Flank|SLC52A2_uc003zce.2_Silent_p.D265D|SLC52A2_uc010mfy.2_Silent_p.D265D|SLC52A2_uc011llc.2_Silent_p.D177D|SLC52A2_uc003zcd.2_Silent_p.D265D	NM_001253816	NP_001240745	Q9HAB3	RFT3_HUMAN	Homo sapiens G protein-coupled receptor 172A (GPR172A), transcript variant 3, mRNA.	265						integral to plasma membrane	receptor activity|riboflavin transporter activity										CTGGTCCAGACCCTAAGGCCT	0.652000														44			20		0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220338526	220338526	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr2:220338526C>T	uc010fwg.3	+	17	4348	c.4348C>T	c.(4348-4350)Cgg>Tgg	p.R1450W		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	1450	Ig-like 7.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GTACTGTCTTCGGATCTGCCG	0.657000														93			56		0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48691030	48691030	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr8:48691030G>A	uc003xqi.3	-	83	11897	c.11840C>T	c.(11839-11841)tCc>tTc	p.S3947F	PRKDC_uc003xqj.3_Missense_Mutation_p.S3916F	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	3948	PI3K/PI4K.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CTGTGTAGCGGATCCAAACGC	0.512000								Non-homologous end-joining						7			3		0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117770	117770	+	RNA	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chrGL000205.1:117770G>A	uc002kgk.4	+	0		c.1148G>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GTTGCAGTTCGAGCCAAGGCC	0.582000														82			5		0	0	1	0	0
GCAT	23464	broad.mit.edu	37	22	38206012	38206012	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr22:38206012C>T	uc003aua.2	+	1	316	c.253C>T	c.(253-255)Cat>Tat	p.H85Y	GCAT_uc003atz.3_Intron	NM_001171690	NP_001165161	O75600	KBL_HUMAN	Homo sapiens glycine C-acetyltransferase (GCAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	66					biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CTGCTGTATCCATCTCCTCTC	0.567000														8			5		0	0	1	0	0
CATSPERD	257062	broad.mit.edu	37	19	5729925	5729925	+	Silent	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr19:5729925C>T	uc002mda.3	+	3	307	c.246C>T	c.(244-246)ctC>ctT	p.L82L	CATSPERD_uc010duj.1_5'UTR	NM_152784	NP_689997	Q86XM0	TM146_HUMAN	Homo sapiens transmembrane protein 146 (TMEM146), mRNA.	82						integral to membrane											AGACTAGTCTCCTTCCATTTA	0.318000														33			32		0	0	1	0	0
SH3D21	79729	broad.mit.edu	37	1	36786686	36786686	+	Silent	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr1:36786686C>T	uc010oia.1	+	15	2257	c.2229C>T	c.(2227-2229)tcC>tcT	p.S743S	SH3D21_uc010oib.1_Silent_p.S632S|SH3D21_uc010oic.1_Non-coding_Transcript	NM_001162530	NP_078952	A4FU49	SH321_HUMAN	Homo sapiens SH3 domain containing 21 (SH3D21), transcript variant 1, mRNA.	627										endometrium(1)|large_intestine(6)|lung(4)|pancreas(1)	12						CCCAGAAGTCCCAGACCCCGC	0.701000														8			8		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122003369	122003369	+	Silent	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr3:122003369G>A	uc003eew.4	+	6	3036	c.2598G>A	c.(2596-2598)aaG>aaA	p.K866K	CASR_uc003eev.4_Silent_p.K856K	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	856					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TCTTCAACAAGATCTACATCA	0.572000														15			18		0	0	1	0	0
C1QTNF9	338872	broad.mit.edu	37	13	24895217	24895217	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr13:24895217C>T	uc001upj.3	+	3	374	c.313C>T	c.(313-315)Ctt>Ttt	p.L105F	SPATA13_uc001upe.3_Non-coding_Transcript	NM_178540	NP_848635	P0C862	C1T9A_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 9 (C1QTNF9), mRNA.	105	Collagen-like 2.					collagen	hormone activity			endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		CCCCAAGGGGCTTGCAGGGCC	0.572000														12			13		0	0	1	0	0
NUMA1	4926	broad.mit.edu	37	11	71715345	71715345	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr11:71715345G>A	uc001orl.1	-	24	6221	c.6049C>T	c.(6049-6051)Cga>Tga	p.R2017*	NUMA1_uc001orj.2_Nonsense_Mutation_p.R199*|NUMA1_uc009ysw.1_Nonsense_Mutation_p.R1584*|NUMA1_uc001ork.1_Nonsense_Mutation_p.R881*|NUMA1_uc001orm.1_Nonsense_Mutation_p.R2003*	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	Homo sapiens nuclear mitotic apparatus protein 1 (NUMA1), mRNA.	2017					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TGTCGGTCTCGGGGAGTCATG	0.552000			T	RARA	APL									30			14		0	0	1	0	0
ZNF585B	92285	broad.mit.edu	37	19	37676177	37676177	+	Silent	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr19:37676177G>A	uc002ofq.3	-	4	2514	c.2262C>T	c.(2260-2262)ggC>ggT	p.G754G	ZNF585B_uc002ofr.1_Silent_p.G568G	NM_152279	NP_689492	Q52M93	Z585B_HUMAN	Homo sapiens zinc finger protein 585B (ZNF585B), mRNA.	754					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTGAACGAAGCCTTTCCCAC	0.478000														55			27		0	0	1	0	0
OVCH1	341350	broad.mit.edu	37	12	29624844	29624844	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr12:29624844G>A	uc001rix.1	-	15	1747	c.1747C>T	c.(1747-1749)Ccc>Tcc	p.P583S		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	Homo sapiens ovochymase 1 (OVCH1), mRNA.	583	Peptidase S1 2.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CAACAGTGGGGGCAGGCTTCT	0.537000														13			12		0	0	1	0	0
IL25	64806	broad.mit.edu	37	14	23844835	23844835	+	Splice_Site	SNP	T	C	C			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr14:23844835T>C	uc001wjr.3	+	2	537	c.279_splice	c.e2-1	p.E93_splice	IL25_uc001wjq.3_Splice_Site_p.E77_splice|CMTM5_uc010akn.3_5'Flank|CMTM5_uc001wju.3_5'Flank|CMTM5_uc010ako.3_5'Flank|CMTM5_uc001wjs.3_5'Flank|CMTM5_uc001wjt.3_5'Flank|CMTM5_uc010akm.3_5'Flank	NM_022789	NP_073626	Q9H293	IL25_HUMAN	Homo sapiens interleukin 25 (IL25), transcript variant 1, mRNA.	93					inflammatory response	extracellular space|membrane	cytokine activity|interleukin-17E receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)		CCCCCACAGGTTGGACAGAGA	0.637000														121			57		0	0	1	0	0
CAPN2	824	broad.mit.edu	37	1	223959522	223959522	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr1:223959522C>T	uc001hob.4	+	18	2139	c.1915C>T	c.(1915-1917)Ccc>Tcc	p.P639S	CAPN2_uc010puy.2_Missense_Mutation_p.P561S|CAPN2_uc001hoc.3_Missense_Mutation_p.P220S	NM_001748	NP_001139540	P17655	CAN2_HUMAN	Homo sapiens calpain 2, (m/II) large subunit (CAPN2), transcript variant 1, mRNA.	639	Domain IV.				proteolysis	cytoplasm|plasma membrane				breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		TTTCAAGATGCCCTGTCAACT	0.428000														82			4		0	0	1	0	0
NRG2	9542	broad.mit.edu	37	5	139251379	139251379	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr5:139251379C>T	uc003lev.2	-	3	1269	c.1039G>A	c.(1039-1041)Gag>Aag	p.E347K	NRG2_uc003lew.2_Missense_Mutation_p.E347K|NRG2_uc003lex.2_Missense_Mutation_p.E347K|NRG2_uc003ley.2_Missense_Mutation_p.E347K|NRG2_uc021yed.1_Intron	NM_013982	NP_053585	O14511	NRG2_HUMAN	Homo sapiens neuregulin 2 (NRG2), transcript variant 3, mRNA.	347	EGF-like.				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGGCTGTCTCGTTGCACTTC	0.582000														46			31		0	0	1	0	0
VIP	7432	broad.mit.edu	37	6	153073383	153073383	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr6:153073383C>T	uc003qpe.3	+	1	243	c.71C>T	c.(70-72)tCg>tTg	p.S24L	VIP_uc003qpf.3_Missense_Mutation_p.S24L|VIP_uc010kjd.3_Missense_Mutation_p.S24L	NM_003381	NP_003372	P01282	VIP_HUMAN	Homo sapiens vasoactive intestinal peptide (VIP), transcript variant 1, mRNA.	24					G-protein coupled receptor protein signaling pathway|body fluid secretion|positive regulation of cell proliferation	extracellular region	neuropeptide hormone activity			haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1)	6		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)		TCACAGACTTCGGCATGGCCT	0.458000														8			16		0	0	1	0	0
CD86	942	broad.mit.edu	37	3	121822654	121822654	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr3:121822654G>A	uc003eet.3	+	2	488	c.360G>A	c.(358-360)atG>atA	p.M120I	CD86_uc011bjo.2_Missense_Mutation_p.M38I|CD86_uc011bjp.2_Intron|CD86_uc003eeu.3_Missense_Mutation_p.M114I|CD86_uc021xcz.1_Missense_Mutation_p.M114I	NM_175862	NP_008820	P42081	CD86_HUMAN	Homo sapiens CD86 molecule (CD86), transcript variant 1, mRNA.	120	Ig-like V-type.				T cell costimulation|interspecies interaction between organisms|positive regulation of T-helper 2 cell differentiation|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of transcription, DNA-dependent		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	CCACAGGAATGATTCGCATCC	0.438000														46			25		0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48608328	48608328	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr3:48608328C>T	uc003ctz.2	-	93	7239	c.7238G>A	c.(7237-7239)gGa>gAa	p.G2413E		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	2413	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ACCCATCTCTCCTCGAGGGCC	0.632000														7			6		0	0	1	0	0
OR51F1	256892	broad.mit.edu	37	11	4790977	4790977	+	Silent	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr11:4790977G>A	uc010qyl.2	-	0	171	c.171C>T	c.(169-171)ctC>ctT	p.L57L		NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 1 (OR51F1), mRNA.	57						integral to membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		TGGGTTCATGGAGACTCTGCT	0.458000														17			6		0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62858828	62858828	+	Silent	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr20:62858828G>A	uc002yii.3	+	16	2953	c.2589G>A	c.(2587-2589)cgG>cgA	p.R863R	MYT1_uc002yih.3_Silent_p.R542R|MYT1_uc002yij.3_Silent_p.R522R	NM_004535	NP_004526	Q01538	MYT1_HUMAN	Homo sapiens myelin transcription factor 1 (MYT1), mRNA.	863					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CTTCACACCGGAGGTGAGCCT	0.602000														13			6		0	0	1	0	0
ANAPC1	64682	broad.mit.edu	37	2	87408231	87408231	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr2:87408231C>T	uc002ssh.3	+	1	62	c.7C>T	c.(7-9)Cct>Tct	p.P3S	RMND5A_uc002srs.4_Intron			Q9H1A4	APC1_HUMAN	Homo sapiens anaphase promoting complex subunit 1, mRNA (cDNA clone IMAGE:3834642), partial cds.	1654					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		p.S2S(1)		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						ATTGATGGCTCCTACCCTTCT	0.438000														15			13		0	0	1	0	0
ANKAR	150709	broad.mit.edu	37	2	190557878	190557878	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr2:190557878C>T	uc002uqw.2	+	4	1370	c.1282C>T	c.(1282-1284)Cca>Tca	p.P428S	ANKAR_uc002uqu.3_Non-coding_Transcript	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	Homo sapiens ankyrin and armadillo repeat containing (ANKAR), mRNA.	428						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)			TTACTCAATACCAGTCATGGA	0.284000														23			4		0	0	1	0	0
SLC12A4	6560	broad.mit.edu	37	16	67991680	67991680	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr16:67991680G>A	uc010vkj.1	-	3	555	c.515C>T	c.(514-516)tCc>tTc	p.S172F	SLC12A4_uc010ceu.2_Missense_Mutation_p.S164F|SLC12A4_uc010vkh.1_Missense_Mutation_p.S139F|SLC12A4_uc002euz.2_Missense_Mutation_p.S170F|SLC12A4_uc010vki.1_Missense_Mutation_p.S170F|SLC12A4_uc002eva.2_Missense_Mutation_p.S170F|SLC12A4_uc002evb.2_Non-coding_Transcript|SLC12A4_uc010cew.1_Missense_Mutation_p.S53F	NM_001145962	NP_001139434	Q9UP95	S12A4_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 4 (SLC12A4), transcript variant 3, mRNA.	170					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GGCACTCATGGAGATGGCCGT	0.647000														35			14		0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111020135	111020135	+	Silent	SNP	T	C	C			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chrX:111020135T>C	uc004epl.1	-	10	3247	c.2328A>G	c.(2326-2328)gaA>gaG	p.E776E		NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.	776					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TCTGAGACAGTTCAGTGCTGC	0.453000														163			105		0	0	1	0	0
KIAA1274	27143	broad.mit.edu	37	10	72307181	72307181	+	Silent	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr10:72307181C>T	uc001jrd.4	+	17	2522	c.2241C>T	c.(2239-2241)atC>atT	p.I747I	KIAA1274_uc001jre.4_Silent_p.I38I	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	Homo sapiens KIAA1274 (KIAA1274), mRNA.	747										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(21)|ovary(2)|prostate(4)|urinary_tract(1)	36						TGCGGGAGATCATCATCTGCA	0.652000														12			24		0	0	1	0	0
ODZ4	26011	broad.mit.edu	37	11	78387423	78387423	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr11:78387423C>T	uc001ozl.4	-	29	5733	c.5270G>A	c.(5269-5271)cGg>cAg	p.R1757Q	ODZ4_uc001ozk.4_5'UTR	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1757					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						GTAGCTGTTCCGGACTTGGTC	0.622000														11			7		0	0	1	0	0
CLDN16	10686	broad.mit.edu	37	3	190105939	190105939	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr3:190105939G>A	uc003fsi.3	+	0	279	c.31G>A	c.(31-33)Gcc>Acc	p.A11T	CLDN16_uc010hze.3_Missense_Mutation_p.A11T	NM_006580	NP_006571	Q9Y5I7	CLD16_HUMAN	Homo sapiens claudin 16 (CLDN16), mRNA.	11					calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		GTTGGTTACAGCCTGTTTGTA	0.493000														14			5		0	0	1	0	0
TRIM59	286827	broad.mit.edu	37	3	160155970	160155970	+	Silent	SNP	T	C	C			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr3:160155970T>C	uc003fdm.3	-	2	1197	c.1002A>G	c.(1000-1002)gtA>gtG	p.V334V	IFT80_uc003fda.3_Intron|TRIM59_uc021xgt.1_Silent_p.V334V	NM_173084	NP_775107	Q8IWR1	TRI59_HUMAN	Homo sapiens tripartite motif containing 59 (TRIM59), mRNA.	334						integral to membrane|intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TTAATGTAACTACAACAATGT	0.303000														24			15		0	0	1	0	0
SUSD2	56241	broad.mit.edu	37	22	24584053	24584054	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr22:24584053_24584054CC>TT	uc002zzn.1	+	12	2335_2336	c.2291_2292CC>TT	c.(2290-2292)acc>aTT	p.T764I		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	Homo sapiens sushi domain containing 2 (SUSD2), mRNA.	764	Sushi.				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						GAGACCAGCACCTGCCAGGCTG	0.634000														71			32		0	0	1	0	0
ZNF714	148206	broad.mit.edu	37	19	21300274	21300274	+	Silent	SNP	T	C	C			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr19:21300274T>C	uc002npo.4	+	4	1182	c.804T>C	c.(802-804)ccT>ccC	p.P268P	ZNF714_uc002npl.3_Silent_p.P114P|ZNF714_uc002npn.3_Non-coding_Transcript|ZNF714_uc010ecp.2_Non-coding_Transcript|ZNF714_uc021urp.1_5'Flank	NM_182515	NP_872321	Q96N38	ZN714_HUMAN	Homo sapiens zinc finger protein 714 (ZNF714), mRNA.	269					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						TTAACCACCCTTCAGCCCTTA	0.368000														8			4		0	0	1	0	0
SPATA21	374955	broad.mit.edu	37	1	16736184	16736184	+	Silent	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr1:16736184G>A	uc001ayn.3	-	5	982	c.499C>T	c.(499-501)Ctg>Ttg	p.L167L	SPATA21_uc001ayl.1_Non-coding_Transcript|SPATA21_uc010occ.2_Silent_p.L144L	NM_198546	NP_940948	Q7Z572	SPT21_HUMAN	Homo sapiens spermatogenesis associated 21 (SPATA21), mRNA.	167	Pro-rich.						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)		GGGCCCAGCAGGACAGGGCAA	0.701000														11			9		0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71398134	71398134	+	Silent	SNP	G	C	C			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr17:71398134G>C	uc010dfm.3	-	18	2631	c.2631C>G	c.(2629-2631)ccC>ccG	p.P877P	SDK2_uc002jjt.4_Silent_p.P36P|SDK2_uc010dfn.2_Silent_p.P556P	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	877	Fibronectin type-III 3.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GCCCGTCCCCGGGGGTGGTGA	0.657000														10			13		0	0	1	0	0
LPCAT4	254531	broad.mit.edu	37	15	34651893	34651894	+	Missense_Mutation	DNP	GC	TT	TT			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr15:34651893_34651894GC>TT	uc001zig.3	-	12	1389_1390	c.1295_1296GC>AA	c.(1294-1296)ggc>gAA	p.G432E		NM_153613	NP_705841	Q643R3	LPCT4_HUMAN	Homo sapiens lysophosphatidylcholine acyltransferase 4 (LPCAT4), mRNA.	432					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|calcium ion binding			NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						TGGTGCTGAAGCCGTCTTTGTA	0.584000														17			10		0	0	1	0	0
TOPORS	10210	broad.mit.edu	37	9	32541774	32541774	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr9:32541774C>T	uc003zrb.3	-	2	2941	c.2749G>A	c.(2749-2751)Gat>Aat	p.D917N	TOPORS_uc003zrc.3_Missense_Mutation_p.D852N	NM_005802	NP_001182551	Q9NS56	TOPRS_HUMAN	Homo sapiens topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase (TOPORS), transcript variant 1, mRNA.	917	Interaction with UBE2I.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	PML body|nuclear speck	DNA binding|DNA topoisomerase I binding|SUMO ligase activity|antigen binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		ACTTCAGAATCCTTATCACTG	0.378000														62			43		0	0	1	0	0
C14orf45	80127	broad.mit.edu	37	14	74514754	74514754	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr14:74514754C>T	uc010tup.2	+	6	892	c.769C>T	c.(769-771)Cat>Tat	p.H257Y	C14orf45_uc001xpm.1_Non-coding_Transcript	NM_025057	NP_079333	Q8ND07	CN045_HUMAN	Homo sapiens chromosome 14 open reading frame 45 (C14orf45), mRNA.	257										large_intestine(1)|lung(2)|prostate(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.00351)		GCAAGAGAGTCATACTTTACT	0.348000														14			16		0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169267785	169267785	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr5:169267785G>A	uc003maf.3	+	26	2808	c.2728G>A	c.(2728-2730)Gag>Aag	p.E910K	DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Missense_Mutation_p.E402K	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	910					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCATATCCAGGAGATCATGGT	0.473000														10			10		0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46652735	46652735	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr22:46652735A>T	uc003bhh.3	-	0	6485	c.6485T>A	c.(6484-6486)gTc>gAc	p.V2162D		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	2162					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GTTGATCAAGACGCAGATCAT	0.438000														24			14		0	0	1	0	0
B4GALNT4	338707	broad.mit.edu	37	11	372665	372665	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr11:372665G>A	uc001lpb.3	+	2	268	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K		NM_178537	NP_848632	Q76KP1	B4GN4_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 4 (B4GALNT4), mRNA.	87						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCTGCAGCCCGAAGGTCGGGA	0.592000														6			4		0	0	1	0	0
KLK6	5653	broad.mit.edu	37	19	51466682	51466682	+	Silent	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr19:51466682G>A	uc002puh.3	-	2	413	c.348C>T	c.(346-348)atC>atT	p.I116I	KLK6_uc010eoj.3_Intron|KLK6_uc002pui.3_Silent_p.I107I|KLK6_uc002puj.3_5'UTR|KLK6_uc010ycn.2_5'UTR|KLK6_uc002pul.3_Silent_p.I107I|KLK6_uc002pum.3_5'UTR	NM_001012965	NP_001012983	Q92876	KLK6_HUMAN	Homo sapiens kallikrein-related peptidase 6 (KLK6), transcript variant C, mRNA.	107	Peptidase S1.				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity	p.I107I(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		GCAACAGCATGATGTCCTGGT	0.592000														30			8		0	0	1	0	0
ATG9B	285973	broad.mit.edu	37	7	150721110	150721110	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr7:150721110G>A	uc011kvc.2	-	0	477	c.401C>T	c.(400-402)cCc>cTc	p.P134L	ATG9B_uc003wig.4_5'Flank	NM_173681	NP_775952	Q674R7	ATG9B_HUMAN	Homo sapiens ATG9 autophagy related 9 homolog B (S. cerevisiae) (ATG9B), mRNA.	134	Pro-rich.				autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGAGTCCTGGGGGCACTGCTG	0.642000														4			3		0	0	1	0	0
SLC16A14	151473	broad.mit.edu	37	2	230911188	230911188	+	Silent	SNP	T	C	C			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr2:230911188T>C	uc002vqd.2	-	3	1113	c.654A>G	c.(652-654)ccA>ccG	p.P218P	FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.3_Silent_p.P218P|SLC16A14_uc002vqf.3_Silent_p.P218P	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	Homo sapiens solute carrier family 16, member 14 (monocarboxylic acid transporter 14) (SLC16A14), mRNA.	218						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		CTGGGTCGTTTGGGTTTTTAC	0.542000														49			27		0	0	1	0	0
KDM5B	10765	broad.mit.edu	37	1	202710610	202710611	+	Silent	DNP	GG	AA	AA			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr1:202710610_202710611GG>AA	uc009xag.3	-	19	3053_3054	c.2937_2938CC>TT	c.(2935-2940)gaccta>gaTTta	p.979_980DL>DL	KDM5B_uc001gyf.3_Silent_p.943_944DL>DL|KDM5B_uc001gyg.1_Silent_p.785_786DL>DL	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	Homo sapiens lysine (K)-specific demethylase 5B (KDM5B), mRNA.	943					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CCTACCCCTAGGTCTATGAGAC	0.550000														22			12		0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					34			21		0	0	1	0	0
OTUD7B	56957	broad.mit.edu	37	1	149916177	149916177	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr1:149916177C>G	uc001etn.3	-	11	2467	c.2111G>C	c.(2110-2112)gGc>gCc	p.G704A		NM_020205	NP_064590	Q6GQQ9	OTU7B_HUMAN	Homo sapiens OTU domain containing 7B (OTUD7B), mRNA.	704					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|cysteine-type peptidase activity|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			GTGGACTCCGCCCCCAGACGG	0.652000														27			22		0	0	1	0	0
NCAM1	4684	broad.mit.edu	37	11	113076866	113076866	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr11:113076866G>A	uc021qqp.1	+	4	958	c.586G>A	c.(586-588)Gag>Aag	p.E196K	NCAM1_uc001pno.3_Missense_Mutation_p.E80K|NCAM1_uc001pnp.3_Missense_Mutation_p.E196K|NCAM1_uc021qqo.1_Missense_Mutation_p.E196K|NCAM1_uc001pnq.3_Missense_Mutation_p.E196K|NCAM1_uc001pnr.3_Missense_Mutation_p.E196K	NM_001242607	NP_001229536	P13591	NCAM1_HUMAN	Homo sapiens neural cell adhesion molecule 1 (NCAM1), transcript variant 5, mRNA.	198	Ig-like C2-type 2.				axon guidance|interferon-gamma-mediated signaling pathway	Golgi membrane|anchored to membrane|extracellular region|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GGCACGGGGGGAGATCAACTT	0.493000														55			32		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117655918	117655918	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr12:117655918C>T	uc001twn.2	-	28	5035	c.4324G>A	c.(4324-4326)Gaa>Aaa	p.E1442K	NOS1_uc021ren.1_Missense_Mutation_p.E1072K|NOS1_uc021reo.1_Missense_Mutation_p.E1072K|NOS1_uc001twm.2_Missense_Mutation_p.E1408K	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	1408					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	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme 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)	TTGGTCACTTCGTACGTTCGC	0.488000														158			106		0	0	1	0	0
LCE2B	26239	broad.mit.edu	37	1	152659481	152659481	+	Silent	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr1:152659481C>T	uc001fai.3	+	1	216	c.162C>T	c.(160-162)ggC>ggT	p.G54G	LCE2B_uc021ozd.1_Silent_p.G54G	NM_014357	NP_055172	O14633	LCE2B_HUMAN	Homo sapiens late cornified envelope 2B (LCE2B), mRNA.	54	Cys-rich.				keratinization					endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTCTGGGGGCTGCTGTGGTC	0.647000														116			91		0	0	1	0	0
ANAPC1	64682	broad.mit.edu	37	2	112608370	112608370	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr2:112608370G>A	uc002thi.3	-	13	1880	c.1633C>T	c.(1633-1635)Ctt>Ttt	p.L545F		NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	Homo sapiens anaphase promoting complex subunit 1 (ANAPC1), mRNA.	545					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						AATGATCCAAGGAGTTTACTA	0.433000														29			23		0	0	1	0	0
HTR1D	3352	broad.mit.edu	37	1	23520477	23520477	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr1:23520477G>A	uc001bgn.3	-	0	746	c.236C>T	c.(235-237)tCc>tTc	p.S79F		NM_000864	NP_000855	P28221	5HT1D_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1D (HTR1D), mRNA.	79					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GGTGGCCAGGGAGCCAATCAG	0.537000														61			26		0	0	1	0	0
MS4A1	931	broad.mit.edu	37	11	60230563	60230563	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr11:60230563C>A	uc009yna.3	+	2	575	c.248C>A	c.(247-249)aCt>aAt	p.T83N	MS4A1_uc009ymy.1_Missense_Mutation_p.T83N|MS4A1_uc009ymz.3_Missense_Mutation_p.T83N|MS4A1_uc010rlc.2_Intron|MS4A1_uc001npp.3_Missense_Mutation_p.T83N|MS4A1_uc001npq.3_Missense_Mutation_p.T83N	NM_152866	NP_690605	P11836	CD20_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 1 (MS4A1), transcript variant 1, mRNA.	83					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)	ATCTGTGTGACTGTGTGGTAC	0.498000														60			25		1.42536e-11	1.45236e-11	1	1	0
MYH13	8735	broad.mit.edu	37	17	10267724	10267724	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr17:10267724C>T	uc002gmk.1	-	2	214	c.124G>A	c.(124-126)Gat>Aat	p.D42N		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	42	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCCTTATTATCCGCTACAAAG	0.453000														15			5		0	0	1	0	0
SPAG5	10615	broad.mit.edu	37	17	26918842	26918842	+	Silent	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr17:26918842G>A	uc002hbq.3	-	3	1403	c.1311C>T	c.(1309-1311)aaC>aaT	p.N437N	SPAG5_uc010waq.1_Intron	NM_006461	NP_006452	Q96R06	SPAG5_HUMAN	Homo sapiens sperm associated antigen 5 (SPAG5), mRNA.	437					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					AGCTCAGCAGGTTATCTTCCA	0.547000														28			15		0	0	1	0	0
SOS2	6655	broad.mit.edu	37	14	50625331	50625331	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr14:50625331T>G	uc001wxs.4	-	10	1984	c.1886A>C	c.(1885-1887)tAt>tCt	p.Y629S	SOS2_uc010tql.2_Missense_Mutation_p.Y596S|SOS2_uc010tqm.1_Non-coding_Transcript|SOS2_uc001wxt.2_Missense_Mutation_p.Y317S	NM_006939	NP_008870	Q07890	SOS2_HUMAN	Homo sapiens son of sevenless homolog 2 (Drosophila) (SOS2), mRNA.	629	N-terminal Ras-GEF.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|Rho guanyl-nucleotide exchange factor activity|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					AAATGAACGATATGTGGTAAG	0.303000														34			18		0	0	1	0	0
NT5C3L	115024	broad.mit.edu	37	17	39983726	39983726	+	Silent	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr17:39983726C>T	uc021txo.1	-	7	798	c.720G>A	c.(718-720)ggG>ggA	p.G240G	NT5C3L_uc021txn.1_Silent_p.G232G|NT5C3L_uc002hxy.4_Silent_p.G232G	NM_052935	NP_443167	C9JKC4	C9JKC4_HUMAN	Homo sapiens 5'-nucleotidase, cytosolic III-like (NT5C3L), transcript variant 1, mRNA.	240						cytoplasm	5'-nucleotidase activity|magnesium ion binding			kidney(1)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	11		Breast(137;0.000162)		BRCA - Breast invasive adenocarcinoma(366;0.15)		CACCAGGAACCCCATCGGCCA	0.507000														56			35		0	0	1	0	0
GALNT8	26290	broad.mit.edu	37	12	4848348	4848348	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr12:4848348C>T	uc001qne.1	+	2	621	c.529C>T	c.(529-531)Cct>Tct	p.P177S		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) (GALNT8), mRNA.	177						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						GAAGACATATCCTTCCCAACT	0.393000														40			29		0	0	1	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70712532	70712532	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr14:70712532C>T	uc010ttg.2	-	0	1987	c.1336G>A	c.(1336-1338)Gga>Aga	p.G446R						Homo sapiens ADAM metallopeptidase domain 21 pseudogene 1 (ADAM21P1), non-coding RNA.																		CAGATCTTTCCTGGGCCACAC	0.448000														20			11		0	0	1	0	0
STK32B	55351	broad.mit.edu	37	4	5141682	5141682	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr4:5141682G>A	uc003gih.1	+	1	167	c.103G>A	c.(103-105)Gga>Aga	p.G35R	STK32B_uc010ida.1_5'UTR	NM_018401	NP_060871	Q9NY57	ST32B_HUMAN	Homo sapiens serine/threonine kinase 32B (STK32B), mRNA.	35	Protein kinase.		G -> E (in a metastatic melanoma sample; somatic mutation).				ATP binding|metal ion binding|protein serine/threonine kinase activity	p.G35E(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						AGGGAGTTTTGGAAAGGTAAG	0.403000														59			28		0	0	1	0	0
CFHR2	3080	broad.mit.edu	37	1	196928177	196928177	+	Silent	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr1:196928177G>A	uc001gtq.1	+	4	857	c.780G>A	c.(778-780)ggG>ggA	p.G260G	CFHR2_uc001gtr.1_Silent_p.G136G	NM_005666	NP_005657	P36980	FHR2_HUMAN	Homo sapiens complement factor H-related 2 (CFHR2), mRNA.	260	Sushi 4.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						GTCAGAATGGGAAACTGGTAT	0.303000														26			15		0	0	1	0	0
ADCY7	113	broad.mit.edu	37	16	50332867	50332867	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr16:50332867C>T	uc002egd.1	+	6	1269	c.1001C>T	c.(1000-1002)tCg>tTg	p.S334L	ADCY7_uc002egb.1_Missense_Mutation_p.S334L|ADCY7_uc002egc.2_Missense_Mutation_p.S334L	NM_001114	NP_001105	P51828	ADCY7_HUMAN	Homo sapiens adenylate cyclase 7 (ADCY7), mRNA.	334	Guanylate cyclase 1.				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding	p.S334L(2)		breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	TACTGTGTATCGGGCCTGCCC	0.642000														49			32		0	0	1	0	0
SNRNP200	23020	broad.mit.edu	37	2	96950181	96950181	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr2:96950181G>A	uc002svu.3	-	30	4439	c.4307C>T	c.(4306-4308)tCc>tTc	p.S1436F	SNRNP200_uc002svt.3_Missense_Mutation_p.S46F|SNRNP200_uc010yuj.2_Non-coding_Transcript|SNRNP200_uc002svv.1_5'UTR	NM_014014	NP_054733	O75643	U520_HUMAN	Homo sapiens small nuclear ribonucleoprotein 200kDa (U5) (SNRNP200), mRNA.	1436	Helicase ATP-binding 2.					U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CCATCGCCGGGAAAGTATGTC	0.552000														33			22		0	0	1	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18809378	18809378	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr1:18809378G>A	uc001bax.3	+	0	1955	c.1903G>A	c.(1903-1905)Gaa>Aaa	p.E635K	KLHDC7A_uc009vpg.3_Missense_Mutation_p.E417K	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	635						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GCGTGCCAAGGAAATCTTCGT	0.711000														21			15		0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12708415	12708415	+	Silent	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chrX:12708415C>T	uc004cuz.2	+	7	1289	c.783C>T	c.(781-783)ctC>ctT	p.L261L	FRMPD4_uc011mij.2_Silent_p.L253L	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	261	FERM.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CGAAGCTGCTCTTGCTTCATG	0.488000														46			36		0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89690801	89690801	+	Splice_Site	SNP	A	G	G			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr10:89690801A>G	uc001kfb.3	+	4	1242	c.210_splice	c.e4-2	p.L70_splice	PTEN_uc021pvw.1_Splice_Site	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	70	Phosphatase tensin-type.		L -> P (in CD).		T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.L70fs*7(2)|p.Y27fs*1(2)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CTTTTCTTTTAGTTGTGCTGA	0.308000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				4			11		0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43925874	43925874	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr12:43925874G>A	uc010skx.2	-	2	578	c.578C>T	c.(577-579)tCt>tTt	p.S193F		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	193						proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CTGCAGAAAAGAGTTATTTAA	0.328000														20			13		0	0	1	0	0
MIA3	375056	broad.mit.edu	37	1	222801814	222801814	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr1:222801814G>A	uc001hnl.3	+	3	1261	c.1252G>A	c.(1252-1254)Gca>Aca	p.A418T	MIA3_uc009xea.1_Missense_Mutation_p.A254T	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	Homo sapiens melanoma inhibitory activity family, member 3 (MIA3), mRNA.	418					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		TGATGATGATGCATTAGTCCC	0.398000														49			24		0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	21995340	21995340	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr12:21995340C>T	uc001rfh.3	-	26	3401	c.3381G>A	c.(3379-3381)atG>atA	p.M1127I	ABCC9_uc001rfi.1_Missense_Mutation_p.M1127I	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1127	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CATAAGAAATCATCCCAATGG	0.433000														46			18		0	0	1	0	0
NOXRED1	122945	broad.mit.edu	37	14	77880280	77880280	+	Silent	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr14:77880280G>A	uc001xtr.3	-	1	513	c.346C>T	c.(346-348)Ctg>Ttg	p.L116L	NOXRED1_uc010tvi.2_Silent_p.L116L	NM_001113475	NP_001106946	Q6NXP6	CN148_HUMAN	Homo sapiens NADP-dependent oxidoreductase domain containing 1 (NOXRED1), mRNA.	116					proline biosynthetic process		binding|pyrroline-5-carboxylate reductase activity	p.L116L(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						TCCTCACCCAGAGTCTCTGGC	0.572000														15			5		0	0	1	0	0
SIVA1	10572	broad.mit.edu	37	14	105222013	105222013	+	Silent	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr14:105222013C>T	uc001yph.3	+	1	234	c.165C>T	c.(163-165)gaC>gaT	p.D55D	SIVA1_uc010tyj.1_Silent_p.D55D|SIVA1_uc001ypg.1_Silent_p.D55D|SIVA1_uc001ypi.3_Intron|SIVA1_uc021sel.1_5'Flank	NM_006427	NP_006418	O15304	SIVA_HUMAN	Homo sapiens SIVA1, apoptosis-inducing factor (SIVA1), transcript variant 1, mRNA.	55	Interaction with BCL2L1 isoform Bcl-x(L) and inhibition of BCL2L1 anti-apoptotic activity.				activation of caspase activity by cytochrome c|activation-induced cell death of T cells|apoptosis|induction of apoptosis|interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|negative regulation of anti-apoptosis	cytoplasm|mitochondrion|nucleoplasm|nucleus	CD27 receptor binding|caspase activator activity|metal ion binding|viral receptor activity|zinc ion binding			large_intestine(1)|lung(1)|prostate(1)	3		all_cancers(154;0.14)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.173)		CCTACCTGGACCACGTGTGGG	0.607000														47			23		0	0	1	0	0
HSPA9	3313	broad.mit.edu	37	5	137906690	137906690	+	Silent	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr5:137906690G>A	uc003ldf.3	-	3	680	c.369C>T	c.(367-369)ctC>ctT	p.L123L	HSPA9_uc011cyw.2_Silent_p.L54L	NM_004134	NP_004125	P38646	GRP75_HUMAN	Homo sapiens heat shock 70kDa protein 9 (mortalin) (HSPA9), nuclear gene encoding mitochondrial protein, mRNA.	123					anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GCCGGCCAATGAGACGCTTGG	0.458000														58			36		0	0	1	0	0
POF1B	79983	broad.mit.edu	37	X	84559402	84559402	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chrX:84559402C>T	uc004eer.2	-	13	1659	c.1513G>A	c.(1513-1515)Gaa>Aaa	p.E505K	POF1B_uc004ees.3_Missense_Mutation_p.E505K	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	Homo sapiens premature ovarian failure, 1B (POF1B), mRNA.	505							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						CTTGTCAGTTCATGAAGCTTA	0.368000														39			22		0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35871202	35871202	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr5:35871202G>A	uc003jjs.3	+	3	513	c.424G>A	c.(424-426)Gga>Aga	p.G142R	IL7R_uc011coo.2_Missense_Mutation_p.G142R|IL7R_uc011cop.2_Non-coding_Transcript	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	142	Fibronectin type-III.				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	p.E141E(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			CTATCGGGAAGGAGCCAATGA	0.383000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency							20			16		0	0	1	0	0
TBC1D9B	23061	broad.mit.edu	37	5	179318495	179318495	+	Silent	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr5:179318495G>A	uc003mlh.3	-	5	963	c.928C>T	c.(928-930)Ctg>Ttg	p.L310L	TBC1D9B_uc003mli.3_Silent_p.L310L|TBC1D9B_uc003mlj.3_Silent_p.L310L	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	Homo sapiens TBC1 domain family, member 9B (with GRAM domain) (TBC1D9B), transcript variant 1, mRNA.	310	GRAM 2.					integral to membrane|intracellular	Rab GTPase activator activity|calcium ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCGTCCACAGGGTGCAGCTT	0.597000														41			20		0	0	1	0	0
PROM2	150696	broad.mit.edu	37	2	95940496	95940496	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr2:95940496C>T	uc002suk.3	+	0	296	c.163C>T	c.(163-165)Cgt>Tgt	p.R55C	PROM2_uc002suh.2_Missense_Mutation_p.R55C|PROM2_uc002sui.3_Missense_Mutation_p.R55C|PROM2_uc002suj.3_5'UTR|PROM2_uc002sul.3_5'UTR	NM_001165977	NP_653308	Q8N271	PROM2_HUMAN	Homo sapiens prominin 2 (PROM2), transcript variant 2, mRNA.	55						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane		p.V54V(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						CCCTCGAGTTCGTGCGCCAGG	0.662000														86			45		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55538281	55538281	+	Silent	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr8:55538281C>T	uc003xsd.1	+	3	1987	c.1839C>T	c.(1837-1839)acC>acT	p.T613T	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	613					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)			CAGATGCAACCCATTTTTCAA	0.373000														37			18		0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23111169	23111169	+	Silent	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr1:23111169G>A	uc009vqj.1	+	2	556	c.411G>A	c.(409-411)aaG>aaA	p.K137K	EPHB2_uc001bge.3_Silent_p.K137K|EPHB2_uc001bgf.3_Silent_p.K137K|EPHB2_uc010odu.2_Silent_p.K137K	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	137					axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CATGGGTGAAGGTGGATACCA	0.567000														30			21		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140762691	140762691	+	Silent	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr5:140762691C>T	uc003lka.2	+	0	225	c.225C>T	c.(223-225)ttC>ttT	p.F75F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003ljz.1_Silent_p.F75F	NM_018920	NP_061743	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 7 (PCDHGA7), transcript variant 1, mRNA.	75	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCAGCTTTTCGCCCTGAACC	0.627000														43			45		0	0	1	0	0
USP26	83844	broad.mit.edu	37	X	132160569	132160569	+	Silent	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chrX:132160569G>A	uc011mvf.2	-	0	1732	c.1680C>T	c.(1678-1680)ccC>ccT	p.P560P	USP26_uc010nrm.1_Silent_p.P560P	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA.	560					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.L559P(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					CCTCACTCAAGGGAAGAGGTG	0.373000														50			26		0	0	1	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142481913	142481913	+	Splice_Site	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr7:142481913G>A	uc011ksq.2	+	4	674	c.591_splice	c.e4+1	p.Q197_splice	TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron					Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA.																		TTCCTGCCAGGTGATTAGACC	0.532000														35			15		0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12475169	12475169	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr1:12475169G>C	uc001atv.3	+	63	12201	c.12060G>C	c.(12058-12060)ttG>ttC	p.L4020F	VPS13D_uc001atw.3_Missense_Mutation_p.L3995F|VPS13D_uc001atx.3_Missense_Mutation_p.L3207F|VPS13D_uc009vnl.3_Non-coding_Transcript|VPS13D_uc010obd.2_Missense_Mutation_p.L18F	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	4019					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GGTTTCCTTTGATACGGTTTG	0.393000														26			19		0	0	1	0	0
LHFP	10186	broad.mit.edu	37	13	40175213	40175213	+	Silent	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr13:40175213G>A	uc001uxf.3	-	1	652	c.141C>T	c.(139-141)ttC>ttT	p.F47F		NM_005780	NP_005771	Q9Y693	LHFP_HUMAN	Homo sapiens lipoma HMGIC fusion partner (LHFP), mRNA.	47						integral to membrane	DNA binding	p.T46S(1)	HMGA2/LHFP(2)	breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)		AGCACCTCCGGAAGGTACCGA	0.572000			T	HMGA2	lipoma									85			58		0	0	1	0	0
LOC442459	442459	broad.mit.edu	37	X	98974949	98974949	+	RNA	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chrX:98974949G>A	uc011mrd.1	-	7		c.1394C>T								Homo sapiens X-ray repair complementing defective repair pseudogene (LOC442459), non-coding RNA.																		AATAAGGGGGGATGTTCCTGC	0.502000														40			25		0	0	1	0	0
POLR1A	25885	broad.mit.edu	37	2	86270136	86270136	+	Silent	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr2:86270136C>T	uc002sqs.3	-	22	3697	c.3318G>A	c.(3316-3318)gaG>gaA	p.E1106E	POLR1A_uc010ytb.2_Silent_p.E472E|POLR1A_uc002sqt.1_Silent_p.E129E	NM_015425	NP_056240	O95602	RPA1_HUMAN	Homo sapiens polymerase (RNA) I polypeptide A, 194kDa (POLR1A), mRNA.	1106					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	p.E1106Q(1)		NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GGTTTTCACTCTCAAGTTTCA	0.532000														56			24		0	0	1	0	0
USP20	10868	broad.mit.edu	37	9	132640700	132640700	+	Silent	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr9:132640700C>T	uc004bys.2	+	22	2704	c.2493C>T	c.(2491-2493)ttC>ttT	p.F831F	USP20_uc004byr.2_Silent_p.F831F|USP20_uc004byt.1_Silent_p.F831F	NM_001110303	NP_006667	Q9Y2K6	UBP20_HUMAN	Homo sapiens ubiquitin specific peptidase 20 (USP20), transcript variant 3, mRNA.	831	DUSP 2.				endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	G-protein-coupled receptor binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				GGGAGGCGTTCGTCAAGGGGA	0.662000														6			8		0	0	1	0	0
FAM83G	644815	broad.mit.edu	37	17	18881273	18881273	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr17:18881273C>T	uc002guw.3	-	4	1873	c.1706G>A	c.(1705-1707)gGg>gAg	p.G569E	SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN	Homo sapiens family with sequence similarity 83, member G (FAM83G), mRNA.	569										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						GAGCCCCACCCCGAGGCTCTC	0.632000														54			28		0	0	1	0	0
OSGIN1	29948	broad.mit.edu	37	16	83998800	83998800	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr16:83998800C>T	uc002fha.3	+	6	871	c.871C>T	c.(871-873)Ccc>Tcc	p.P291S	OSGIN1_uc002fhb.3_Missense_Mutation_p.P208S|OSGIN1_uc002fhc.3_Missense_Mutation_p.P208S	NM_182981	NP_892026	Q9UJX0	OSGI1_HUMAN	Homo sapiens oxidative stress induced growth inhibitor 1 (OSGIN1), nuclear gene encoding mitochondrial protein, mRNA.	291					cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						GACCCCCGATCCCAGCAGCTG	0.642000														46			38		0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129902716	129902716	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr10:129902716G>A	uc001lke.3	-	12	7583	c.7388C>T	c.(7387-7389)tCc>tTc	p.S2463F	MKI67_uc001lkf.3_Missense_Mutation_p.S2103F|MKI67_uc009yav.1_Missense_Mutation_p.S2038F|MKI67_uc009yaw.1_Missense_Mutation_p.S1613F	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	2463	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AGATTTACAGGATACTTCTGT	0.468000														21			38		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70863619	70863619	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr16:70863619C>T	uc002ezr.3	-	80	14162	c.14011G>A	c.(14011-14013)Ggg>Agg	p.G4671R	HYDIN_uc010cfy.3_Non-coding_Transcript	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	4672										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)				AACTCAGGCCCCTCCCAGTGC	0.597000														7			5		0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32188317	32188317	+	Missense_Mutation	SNP	C	T	T	rs144492578	byFrequency	TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr6:32188317C>T	uc003obb.3	-	5	1163	c.1024G>A	c.(1024-1026)Gtg>Atg	p.V342M	NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc003obc.3_Missense_Mutation_p.V342M	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	342	EGF-like 8; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CTCACACACACGCAGTGAAAG	0.612000														43			29		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141110552	141110552	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr2:141110552G>A	uc002tvj.1	-	75	12592	c.11620C>T	c.(11620-11622)Caa>Taa	p.Q3874*		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3874	EGF-like 9.				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)		TTTCTTTCTTGAAAATTCTGG	0.313000										TSP Lung(27;0.18)				33			26		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216538295	216538295	+	Splice_Site	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr1:216538295C>T	uc001hku.1	-	4	1171	c.784_splice	c.e4+1	p.G262_splice	USH2A_uc001hkv.3_Splice_Site_p.G262_splice	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	262					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGAAACTTACCATTTAAACTC	0.313000										HNSCC(13;0.011)				22			12		0	0	1	0	0
UTP15	84135	broad.mit.edu	37	5	72874881	72874881	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr5:72874881A>G	uc003kcw.1	+	10	1409	c.1186A>G	c.(1186-1188)Atc>Gtc	p.I396V	UTP15_uc011cso.1_Missense_Mutation_p.I377V|UTP15_uc011csp.1_Missense_Mutation_p.I206V|UTP15_uc010ize.1_Missense_Mutation_p.I396V	NM_032175	NP_115551	Q8TED0	UTP15_HUMAN	Homo sapiens UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae) (UTP15), mRNA.	396					rRNA processing	cytoplasm|nucleolus				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)		TACGGTGTCCATCATAAAGGA	0.378000														19			8		0	0	1	0	0
KIAA0284	283638	broad.mit.edu	37	14	105349666	105349666	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr14:105349666C>T	uc001yps.3	+	6	968	c.662C>T	c.(661-663)tCc>tTc	p.S221F	KIAA0284_uc010axb.3_Missense_Mutation_p.S221F	NM_015005	NP_055820	Q9Y4F5	K0284_HUMAN	Homo sapiens KIAA0284 (KIAA0284), transcript variant 2, mRNA.	291						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|prostate(3)|soft_tissue(1)	14		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)		ACCAAGTTTTCCCTGCGCCAG	0.632000														11			5		0	0	1	0	0
MOV10L1	54456	broad.mit.edu	37	22	50599200	50599200	+	Silent	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr22:50599200C>T	uc003bjj.3	+	24	3491	c.3408C>T	c.(3406-3408)atC>atT	p.I1136I	MOV10L1_uc003bjk.4_Intron|MOV10L1_uc011arp.2_Silent_p.I1116I|MOV10L1_uc003bjl.3_Silent_p.I263I	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.	1136					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		ATGTTGCAATCACCAGACCCA	0.433000														23			11		0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125671778	125671778	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr2:125671778A>T	uc010flu.3	+	23	4201	c.3837A>T	c.(3835-3837)gaA>gaT	p.E1279D	CNTNAP5_uc002tno.3_Missense_Mutation_p.E1278D	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	1278					cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AGGAGAAGGAATATCCAGAAA	0.438000														38			30		0	0	1	0	0
OR8J3	81168	broad.mit.edu	37	11	55905072	55905072	+	Silent	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr11:55905072C>T	uc010riz.2	-	0	123	c.123G>A	c.(121-123)ggG>ggA	p.G41G		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily J, member 3 (OR8J3), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					TGCCCAGGTTCCCTGCCATGG	0.493000														51			46		0	0	1	0	0
PHF12	57649	broad.mit.edu	37	17	27237296	27237296	+	Silent	SNP	T	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr17:27237296T>A	uc002hdg.1	-	10	2837	c.2307A>T	c.(2305-2307)tcA>tcT	p.S769S	PHF12_uc010wbb.1_Silent_p.S751S|PHF12_uc002hdi.1_Silent_p.S765S|PHF12_uc002hdh.1_Silent_p.S552S	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	Homo sapiens PHD finger protein 12 (PHF12), transcript variant 1, mRNA.	769					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			CACTGCCCGGTGAAGGTTGGA	0.522000														38			16		0	0	1	0	0
PCDHB15	56121	broad.mit.edu	37	5	140625546	140625546	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr5:140625546C>T	uc003lje.3	+	0	400	c.400C>T	c.(400-402)Cct>Tct	p.P134S		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	Homo sapiens protocadherin beta 15 (PCDHB15), mRNA.	134					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCTGAGTTTCCTGAAAGAGA	0.428000														43			48		0	0	1	0	0
IKBKAP	8518	broad.mit.edu	37	9	111641742	111641742	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr9:111641742T>A	uc004bdm.4	-	32	4076	c.3556A>T	c.(3556-3558)Aac>Tac	p.N1186Y	IKBKAP_uc004bdl.3_Missense_Mutation_p.N837Y|IKBKAP_uc011lwc.2_Missense_Mutation_p.N1072Y|IKBKAP_uc010mtq.3_Missense_Mutation_p.N837Y|IKBKAP_uc004bdk.3_Missense_Mutation_p.N190Y|IKBKAP_uc010mtp.3_Non-coding_Transcript	NM_003640	NP_003631	O95163	ELP1_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein (IKBKAP), mRNA.	1186					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme|cytoplasm|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						ATCCTGGAGTTACTATGGGAG	0.458000														30			13		0	0	1	0	0
HEPACAM	220296	broad.mit.edu	37	11	124794732	124794732	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr11:124794732G>C	uc001qbk.3	-	1	725	c.319C>G	c.(319-321)Ctg>Gtg	p.L107V	HEPACAM_uc009zbj.3_5'Flank|HEPACAM_uc001qbl.1_Missense_Mutation_p.L107V	NM_152722	NP_689935	Q14CZ8	HECAM_HUMAN	Homo sapiens hepatic and glial cell adhesion molecule (HEPACAM), mRNA.	107	Ig-like V-type.				cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		CTGAGAAGCAGGGAGCCATTT	0.577000														85			53		0	0	1	0	0
STARD3	10948	broad.mit.edu	37	17	37809935	37809935	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr17:37809935C>T	uc002hsd.3	+	1	354	c.151C>T	c.(151-153)Cgc>Tgc	p.R51C	STARD3_uc010weg.2_Missense_Mutation_p.R51C|STARD3_uc010wei.2_Missense_Mutation_p.R51C|STARD3_uc002hse.3_Missense_Mutation_p.R51C|STARD3_uc010weh.2_Non-coding_Transcript|STARD3_uc002hsf.3_5'UTR	NM_006804	NP_006795	Q14849	STAR3_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 3 (STARD3), transcript variant 1, mRNA.	51	MENTAL.				cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process	integral to membrane|late endosome membrane	cholesterol binding|cholesterol transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TGATGTCCGCCGCACCTTCTG	0.627000											OREG0024381	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		49			3		0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	55922446	55922446	+	Silent	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr3:55922446C>T	uc021wzo.1	-	12	2675	c.2535G>A	c.(2533-2535)agG>agA	p.R845R	ERC2_uc003dhq.1_Non-coding_Transcript|ERC2_uc003dhr.1_Silent_p.R841R|ERC2_uc003dht.1_Silent_p.R324R	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	845						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CCAGCTGTTTCCTCCTCTCAA	0.557000														78			40		0	0	1	0	0
DDX43	55510	broad.mit.edu	37	6	74104638	74104638	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr6:74104638C>T	uc003pgw.3	+	0	354	c.10C>T	c.(10-12)Cac>Tac	p.H4Y	OOEP_uc003pgv.4_5'UTR|DDX43_uc011dyn.1_Non-coding_Transcript	NM_018665	NP_061135	Q9NXZ2	DDX43_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 (DDX43), mRNA.	4						intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding	p.H4H(1)		NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						AATGTCCCACCACGGAGGAGC	0.637000														65			17		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3228050	3228050	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chrX:3228050G>A	uc004crg.4	-	6	8351	c.8194C>T	c.(8194-8196)Cct>Tct	p.P2732S		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2732						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)				ATCCGGGGAGGATAGGCGATC	0.592000														24			18		0	0	1	0	0
RNF207	388591	broad.mit.edu	37	1	6266692	6266692	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr1:6266692G>A	uc001amg.3	+	1	271	c.97G>A	c.(97-99)Gag>Aag	p.E33K	RNF207_uc001amf.1_Missense_Mutation_p.E33K|RNF207_uc001amh.3_5'Flank|RNF207_uc010nzp.1_5'Flank	NM_207396	NP_997279	Q6ZRF8	RN207_HUMAN	Homo sapiens ring finger protein 207 (RNF207), mRNA.	33						intracellular	zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2)	16	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		CGTGCAGTACGAGCGCCCGTG	0.687000														15			21		0	0	1	0	0
KCTD2	23510	broad.mit.edu	37	17	73055678	73055679	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr17:73055678_73055679CC>TT	uc002jmp.3	+	3	681_682	c.614_615CC>TT	c.(613-615)tcc>tTT	p.S205F	KCTD2_uc010dfz.3_Non-coding_Transcript|KCTD2_uc002jmq.3_Non-coding_Transcript	NM_015353	NP_056168	Q14681	KCTD2_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 2 (KCTD2), mRNA.	205						voltage-gated potassium channel complex	voltage-gated potassium channel activity			kidney(1)|lung(2)	3	all_lung(278;0.226)					TCCACGATGTCCGACGGCTGGA	0.554000														22			15		0	0	1	0	0
CD1C	911	broad.mit.edu	37	1	158261958	158261958	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr1:158261958G>A	uc001fru.3	+	2	705	c.413G>A	c.(412-414)gGa>gAa	p.G138E	CD1C_uc021pbl.1_5'Flank	NM_001765	NP_001756	P29017	CD1C_HUMAN	Homo sapiens CD1c molecule (CD1C), mRNA.	138					T cell activation involved in immune response|antigen processing and presentation	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	p.G138*(1)		NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					GCTTTCAACGGATTAGATTTA	0.473000														68			41		0	0	1	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	17964446	17964446	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr1:17964446C>T	uc001ban.3	+	18	2150	c.1991C>T	c.(1990-1992)gCc>gTc	p.A664V	ARHGEF10L_uc009vpe.1_Missense_Mutation_p.A625V|ARHGEF10L_uc001bao.3_Missense_Mutation_p.A625V|ARHGEF10L_uc001bap.3_Missense_Mutation_p.A620V|ARHGEF10L_uc010ocr.1_Missense_Mutation_p.A422V|ARHGEF10L_uc001baq.3_Missense_Mutation_p.A425V|ARHGEF10L_uc010ocs.2_Missense_Mutation_p.A437V|ARHGEF10L_uc001bar.3_Missense_Mutation_p.A367V|ARHGEF10L_uc009vpf.3_Non-coding_Transcript	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10-like (ARHGEF10L), transcript variant 1, mRNA.	664					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		AAGGACCTGGCCGTGGTGGAG	0.622000														4			3		0	0	1	0	0
TUBA3C	7278	broad.mit.edu	37	13	19752485	19752485	+	Silent	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr13:19752485C>T	uc009zzj.3	-	2	381	c.276G>A	c.(274-276)ctG>ctA	p.L92L		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	92					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TCCCGGTGATCAGCTGCTCTG	0.522000														31			23		0	0	1	0	0
PSD	5662	broad.mit.edu	37	10	104175826	104175826	+	Silent	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr10:104175826G>A	uc001kvg.1	-	2	1232	c.705C>T	c.(703-705)atC>atT	p.I235I	PSD_uc001kvh.1_5'UTR|PSD_uc009xxd.1_Silent_p.I235I	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing (PSD), mRNA.	235					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		TGGCTCTAGCGATTCTCTGGG	0.597000														5			9		0	0	1	0	0
WDR35	57539	broad.mit.edu	37	2	20153665	20153665	+	Missense_Mutation	SNP	G	A	A	rs148510977		TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr2:20153665G>A	uc002rdi.3	-	12	1471	c.1363C>T	c.(1363-1365)Cgt>Tgt	p.R455C	WDR35_uc002rdj.3_Missense_Mutation_p.R444C|WDR35_uc010ext.3_Non-coding_Transcript|WDR35_uc002rdh.3_Missense_Mutation_p.R20C|WDR35_uc002rdk.4_Missense_Mutation_p.R20C	NM_001006657	NP_001006658	Q9P2L0	WDR35_HUMAN	Homo sapiens WD repeat domain 35 (WDR35), transcript variant 1, mRNA.	455										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTGCCACACGATATTGCCAG	0.358000														43			33		0	0	1	0	0
FKRP	79147	broad.mit.edu	37	19	47259861	47259861	+	Missense_Mutation	SNP	C	T	T	rs104894680	byFrequency	TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr19:47259861C>T	uc002pfn.2	+	3	1451	c.1154C>T	c.(1153-1155)tCg>tTg	p.S385L	FKRP_uc002pfp.2_Missense_Mutation_p.S385L|FKRP_uc021uwj.1_Missense_Mutation_p.S385L	NM_024301	NP_077277	Q9H9S5	FKRP_HUMAN	Homo sapiens fukutin related protein (FKRP), transcript variant 1, mRNA.	385						Golgi apparatus|extracellular space|rough endoplasmic reticulum|sarcolemma	transferase activity			NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)		GAGGCCGGCTCGGTGGTGGAT	0.642000														11			6		0	0	1	0	0
DENND5A	23258	broad.mit.edu	37	11	9215197	9215197	+	Silent	SNP	C	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr11:9215197C>A	uc001mhl.3	-	4	1238	c.981G>T	c.(979-981)acG>acT	p.T327T	DENND5A_uc010rbw.2_Silent_p.T327T|DENND5A_uc010rbx.2_Non-coding_Transcript	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN	Homo sapiens DENN/MADD domain containing 5A (DENND5A), transcript variant 1, mRNA.	327	DENN.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GAGCTGTAATCGTCTCCGCCA	0.448000														14			7		2.7689e-08	2.80953e-08	1	1	0
EFEMP2	30008	broad.mit.edu	37	11	65638014	65638014	+	Silent	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr11:65638014C>T	uc001ofy.4	-	4	742	c.483G>A	c.(481-483)gaG>gaA	p.E161E	EFEMP2_uc001ofz.3_Non-coding_Transcript	NM_016938	NP_058634	O95967	FBLN4_HUMAN	Homo sapiens EGF containing fibulin-like extracellular matrix protein 2 (EFEMP2), transcript variant 1, mRNA.	161	EGF-like 2; calcium-binding (Potential).				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		CACCCACACACTCGGGCCCGA	0.622000														15			8		0	0	1	0	0
NPR2	4882	broad.mit.edu	37	9	35792814	35792814	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr9:35792814C>T	uc003zyd.3	+	0	409	c.409C>T	c.(409-411)Cgt>Tgt	p.R137C	NPR2_uc010mlb.3_Missense_Mutation_p.R137C	NM_003995	NP_003986	P20594	ANPRB_HUMAN	Homo sapiens natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) (NPR2), mRNA.	137					intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	TGACCATTATCGTACCCTGGT	0.602000														45			30		0	0	1	0	0
OR1D4	653166	broad.mit.edu	37	17	3144091	3144091	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr17:3144091G>A	uc002fvf.3	+	0	122	c.122G>A	c.(121-123)gGa>gAa	p.G41E						Homo sapiens olfactory receptor, family 1, subfamily D, member 4 (gene/pseudogene) (OR1D4), non-coding RNA.																		ACGGTGCTGGGAAATGTGCTC	0.532000														71			17		0	0	1	0	0
PCDHB13	56123	broad.mit.edu	37	5	140594626	140594626	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr5:140594626G>A	uc003lja.1	+	0	1118	c.931G>A	c.(931-933)Gaa>Aaa	p.E311K		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	Homo sapiens protocadherin beta 13 (PCDHB13), mRNA.	311	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.E311K(4)|p.F310F(2)|p.E311E(1)		NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTCGATTTCGAAAAACTTCA	0.378000														79			42		0	0	1	0	0
SLC22A2	6582	broad.mit.edu	37	6	160668298	160668298	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr6:160668298G>A	uc003qtf.3	-	4	1049	c.875C>T	c.(874-876)tCc>tTc	p.S292F		NM_003058	NP_003049	O15244	S22A2_HUMAN	Homo sapiens solute carrier family 22 (organic cation transporter), member 2 (SLC22A2), mRNA.	292					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		CTTATTCTGGGAGATCAGCCA	0.488000														12			24		0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210557364	210557364	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr2:210557364C>T	uc002vde.1	+	6	718	c.470C>T	c.(469-471)tCg>tTg	p.S157L	MAP2_uc002vdc.1_Missense_Mutation_p.S157L|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.S153L	NM_002374	NP_002365	P11137	MAP2_HUMAN	Homo sapiens microtubule-associated protein 2 (MAP2), transcript variant 1, mRNA.	157					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	CTTACAGCCTCGAAGATGGAG	0.388000														31			25		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90052344	90052344	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr5:90052344C>G	uc003kju.3	+	55	11750	c.11654C>G	c.(11653-11655)tCt>tGt	p.S3885C	GPR98_uc003kjt.3_Missense_Mutation_p.S1591C|GPR98_uc003kjv.3_Missense_Mutation_p.S1485C	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3885					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			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)		TCTGACTTCTCTACAGGACAG	0.448000														53			18		0	0	1	0	0
STATH	6779	broad.mit.edu	37	4	70864190	70864190	+	Silent	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr4:70864190C>T	uc003heu.1	+	1	146	c.36C>T	c.(34-36)ctC>ctT	p.L12L	STATH_uc003hev.1_Silent_p.L12L	NM_003154	NP_003145	P02808	STAT_HUMAN	Homo sapiens statherin (STATH), transcript variant 1, mRNA.	12					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						TCTTGGCTCTCATGGTTTCCA	0.393000														32			21		0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971017	21971017	+	Missense_Mutation	SNP	G	A	A	rs121913386		TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr9:21971017G>A	uc003zpk.3	-	1	647	c.341C>T	c.(340-342)cCc>cTc	p.P114L	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_3'UTR|CDKN2A_uc010miu.3_Missense_Mutation_p.P114L|CDKN2A_uc003zpl.3_Silent_p.A128A	NM_000077	NP_000068	P42771	CD2A1_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA.	114			P -> L (in non-small cell lung carcinoma).|P -> S (found in some patients with melanoma; loss of CDK4 binding).		G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|Ras protein signal transduction|cell cycle arrest|cell cycle checkpoint|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|replicative senescence	cytosol|nucleus	NF-kappaB binding|cyclin-dependent protein kinase inhibitor activity|protein binding|protein kinase binding	p.0?(1315)|p.P114L(59)|p.?(44)|p.P114H(6)|p.H83fs*2(2)|p.P114S(2)|p.L113M(1)|p.V115fs*11(1)|p.0(1)|p.L113L(1)|p.A68fs*3(1)|p.L113P(1)|p.A169A(1)|p.P114P(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CAGGTCCACGGGCAGACGGCC	0.731000	P114L(SKMEL30_SKIN)|P114L(WM983B_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				5			21		0	0	1	0	0
PCDHGB8P	56120	broad.mit.edu	37	5	140807776	140807776	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr5:140807776C>T	uc011daz.2	+	0	1924	c.1565C>T	c.(1564-1566)tCa>tTa	p.S522L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc011dba.2_5'Flank|PCDHGC5_uc003lkt.2_5'Flank					Homo sapiens protocadherin gamma subfamily B, 8 pseudogene (PCDHGB8P), non-coding RNA.																		CGCTACGCTTCACCTAGTCTT	0.617000														3			3		0	0	1	0	0
LBX1	10660	broad.mit.edu	37	10	102987032	102987032	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr10:102987032C>T	uc001ksx.3	-	1	986	c.841G>A	c.(841-843)Gat>Aat	p.D281N	FLJ41350_uc010qpy.2_5'Flank	NM_006562	NP_006553	P52954	LBX1_HUMAN	Homo sapiens ladybird homeobox 1 (LBX1), mRNA.	281	Asp/Glu-rich (highly acidic).				muscle organ development		sequence-specific DNA binding			large_intestine(2)|lung(4)|ovary(1)	7		Colorectal(252;0.234)		Epithelial(162;3.22e-09)|all cancers(201;1.79e-07)		GCCGCTCAATCGTCCACGTCG	0.706000														31			51		0	0	1	0	0
ZNF71	58491	broad.mit.edu	37	19	57133826	57133826	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr19:57133826T>C	uc002qnm.4	+	2	1409	c.1171T>C	c.(1171-1173)Ttc>Ctc	p.F391L	ZNF71_uc021vcg.1_Missense_Mutation_p.F391L	NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	Homo sapiens zinc finger protein 71 (ZNF71), mRNA.	391						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CAAGAAGCACTTCACGGGGCG	0.637000														37			29		0	0	1	0	0
ITGAX	3687	broad.mit.edu	37	16	31368378	31368378	+	Silent	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr16:31368378C>T	uc002ebt.3	+	3	341	c.274C>T	c.(274-276)Ctg>Ttg	p.L92L	ITGAX_uc010cao.1_Silent_p.L92L|ITGAX_uc002ebu.1_Silent_p.L92L	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	92					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GAACATGTCCCTGGGCCTGTC	0.662000														24			13		0	0	1	0	0
PCSK1	5122	broad.mit.edu	37	5	95730697	95730697	+	Silent	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr5:95730697C>T	uc003kls.2	-	12	1994	c.1755G>A	c.(1753-1755)gtG>gtA	p.V585V	PCSK1_uc010jbi.2_Silent_p.V275V|PCSK1_uc021ybq.1_Silent_p.V538V	NM_000439	NP_000430	P29120	NEC1_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA.	585					cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GCTTCCAGTTCACAATTCTTC	0.378000														33			17		0	0	1	0	0
OR2M5	127059	broad.mit.edu	37	1	248308599	248308599	+	Silent	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr1:248308599C>T	uc010pze.2	+	0	150	c.150C>T	c.(148-150)taC>taT	p.Y50Y		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 5 (OR2M5), mRNA.	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TCCTCATCTACCTGGACACCC	0.527000														145			71		0	0	1	0	0
HTR4	3360	broad.mit.edu	37	5	147929810	147929810	+	Silent	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr5:147929810G>A	uc021yfj.1	-	1	89	c.42C>T	c.(40-42)ttC>ttT	p.F14F	HTR4_uc021yfg.1_Silent_p.F14F|HTR4_uc021yfh.1_Silent_p.F14F|HTR4_uc010jgu.1_Non-coding_Transcript|HTR4_uc021yfi.1_Silent_p.F14F|HTR4_uc011dby.1_Silent_p.F14F|HTR4_uc003lpn.3_Silent_p.F14F|HTR4_uc010jgv.3_Non-coding_Transcript|HTR4_uc021yfk.1_Silent_p.F14F|SH3TC2_uc003lpp.1_Non-coding_Transcript	NM_001040173	NP_001035263	Q13639	5HT4R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 4 (HTR4), transcript variant i, mRNA.	14					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	CCACTGACCCGAAACCCTCCT	0.493000														28			11		0	0	1	0	0
CHRDL1	91851	broad.mit.edu	37	X	109924822	109924822	+	Silent	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chrX:109924822C>T	uc004eou.4	-	9	1393	c.1044G>A	c.(1042-1044)acG>acA	p.T348T	CHRDL1_uc004eov.3_Silent_p.T337T|CHRDL1_uc004eow.3_Silent_p.T346T|CHRDL1_uc010nps.3_Silent_p.T347T|CHRDL1_uc011mss.2_Silent_p.T268T	NM_001143981	NP_001137453	Q9BU40	CRDL1_HUMAN	Homo sapiens chordin-like 1 (CHRDL1), transcript variant 1, mRNA.	340					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region		p.P348A(1)		endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						ACACAGGCATCGTTTCTTCCC	0.458000														64			40		0	0	1	0	0
ILDR1	286676	broad.mit.edu	37	3	121707229	121707229	+	Silent	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr3:121707229C>T	uc003ees.3	-	7	1829	c.1626G>A	c.(1624-1626)agG>agA	p.R542R	ILDR1_uc003eeq.3_Silent_p.R510R|ILDR1_uc003eer.3_Silent_p.R498R|ILDR1_uc010hrg.3_Silent_p.R453R	NM_001199799	NP_001186728	Q86SU0	ILDR1_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 1 (ILDR1), transcript variant 1, mRNA.	542						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		TGACCACACTCCTTCCACTAT	0.448000														13			10		0	0	1	0	0
SLC4A10	57282	broad.mit.edu	37	2	162751222	162751222	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr2:162751222C>T	uc002ubx.4	+	10	1412	c.1228C>T	c.(1228-1230)Cgt>Tgt	p.R410C	SLC4A10_uc010fpa.1_Missense_Mutation_p.R422C|SLC4A10_uc010zcr.1_Non-coding_Transcript|SLC4A10_uc010zcs.2_Missense_Mutation_p.R391C|SLC4A10_uc002uby.4_Missense_Mutation_p.R380C	NM_001178015	NP_001171486	Q6U841	S4A10_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA.	410					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	p.R380C(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AGCTAAAGATCGTAATGACTT	0.328000														18			8		0	0	1	0	0
EYS	346007	broad.mit.edu	37	6	66205081	66205081	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr6:66205081G>A	uc011dxu.1	-	3	761	c.223C>T	c.(223-225)Ccc>Tcc	p.P75S	EYS_uc003peq.3_Missense_Mutation_p.P75S|EYS_uc003per.1_Missense_Mutation_p.P75S|EYS_uc021zbn.1_Missense_Mutation_p.P75S|EYS_uc010kaj.1_Non-coding_Transcript	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	Homo sapiens eyes shut homolog (Drosophila) (EYS), transcript variant 1, mRNA.	75					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CAAATCTGGGGAACAGCTTGA	0.353000														27			29		0	0	1	0	0
PLA2G4A	5321	broad.mit.edu	37	1	186925345	186925345	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr1:186925345A>T	uc001gsc.3	+	13	1653	c.1448A>T	c.(1447-1449)gAa>gTa	p.E483V	PLA2G4A_uc010pos.2_Missense_Mutation_p.E423V	NM_024420	NP_077734	P47712	PA24A_HUMAN	Homo sapiens phospholipase A2, group IVA (cytosolic, calcium-dependent) (PLA2G4A), mRNA.	483	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	AATACCAGAGAAGGACGTGCT	0.428000														31			25		0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50294350	50294351	+	Splice_Site	DNP	CC	TT	TT			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr15:50294350_50294351CC>TT	uc001zxu.3	-	8	648	c.506_splice	c.e8+1	p.G169_splice	ATP8B4_uc010ber.3_Splice_Site_p.G42_splice|ATP8B4_uc010ufd.2_Splice_Site_p.G42_splice|ATP8B4_uc010ufe.2_Splice_Site	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	169					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		AATAACTTACCCATCAAGCTCA	0.307000														11			3		0	0	1	0	0
PDPR	55066	broad.mit.edu	37	16	70163017	70163017	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr16:70163017C>T	uc002eyf.1	+	5	1556	c.599C>T	c.(598-600)tCc>tTc	p.S200F	CLEC18A_uc002exy.3_Intron|PDPR_uc010vlr.1_Missense_Mutation_p.S100F|PDPR_uc002eyg.1_5'Flank	NM_017990	NP_060460	Q8NCN5	PDPR_HUMAN	Homo sapiens pyruvate dehydrogenase phosphatase regulatory subunit (PDPR), mRNA.	200					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		AGTGCTGCCTCCCAAAATGGT	0.517000														124			27		0	0	1	0	0
DPYSL3	1809	broad.mit.edu	37	5	146775220	146775220	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr5:146775220G>T	uc003loo.3	-	12	2066	c.1868C>A	c.(1867-1869)aCc>aAc	p.T623N	DPYSL3_uc003lon.1_Missense_Mutation_p.T509N	NM_001197294	NP_001184223	Q14195	DPYL3_HUMAN	Homo sapiens dihydropyrimidinase-like 3 (DPYSL3), transcript variant 1, mRNA.	509					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity			breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTTTGGGGGTGGTGGTCAG	0.587000														13			10		6.40141e-05	6.42797e-05	1	1	0
OR51G1	79324	broad.mit.edu	37	11	4945486	4945486	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr11:4945486C>T	uc010qyr.2	-	0	84	c.84G>A	c.(82-84)tgG>tgA	p.W28*		NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 1 (OR51G1), mRNA.	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAATAGAGATCCAGCCATGGA	0.468000														20			11		0	0	1	0	0
OR2G3	81469	broad.mit.edu	37	1	247769700	247769700	+	Silent	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr1:247769700G>A	uc010pyz.2	+	0	813	c.813G>A	c.(811-813)ggG>ggA	p.G271G		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 3 (OR2G3), mRNA.	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AGGACCAAGGGAAGTTTATCT	0.453000														22			20		0	0	1	0	0
PROSER1	80209	broad.mit.edu	37	13	39586889	39586889	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr13:39586889G>A	uc001uwy.3	-	10	3373	c.2500C>T	c.(2500-2502)Ctc>Ttc	p.L834F	PROSER1_uc001uwz.3_Missense_Mutation_p.L812F	NM_025138	NP_079414	Q86XN7	CM023_HUMAN	Homo sapiens proline and serine rich 1 (PROSER1), transcript variant 1, mRNA.	834																	AATCCTGGGAGGACTGGAGCT	0.547000														30			25		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126411434	126411434	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr4:126411434G>A	uc003ifj.4	+	16	13457	c.13457G>A	c.(13456-13458)gGg>gAg	p.G4486E	FAT4_uc011cgp.2_Missense_Mutation_p.G2727E|FAT4_uc003ifi.1_Missense_Mutation_p.G1963E	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4486					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P4486P(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGTCCTGCGGGGCATGTCTGT	0.617000														44			36		0	0	1	0	0
ENPP5	59084	broad.mit.edu	37	6	46133271	46133271	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr6:46133271T>C	uc003oxz.1	-	2	1067	c.859A>G	c.(859-861)Act>Gct	p.T287A	ENPP5_uc010jzc.1_Missense_Mutation_p.T287A|ENPP5_uc011dvz.1_Missense_Mutation_p.T193A|ENPP5_uc003oya.1_Missense_Mutation_p.T287A	NM_021572	NP_067547	Q9UJA9	ENPP5_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative) (ENPP5), mRNA.	287						extracellular region|integral to membrane	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						TGAGCGTGAGTTAGTGCTTCA	0.408000														31			25		0	0	1	0	0
RBM19	9904	broad.mit.edu	37	12	114397165	114397165	+	Silent	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr12:114397165C>T	uc009zwi.2	-	4	567	c.423G>A	c.(421-423)caG>caA	p.Q141Q	RBM19_uc001tvn.4_Silent_p.Q141Q|RBM19_uc001tvm.3_Silent_p.Q141Q	NM_001146699	NP_057280	Q9Y4C8	RBM19_HUMAN	Homo sapiens RNA binding motif protein 19 (RBM19), transcript variant 1, mRNA.	141				Q -> R (in Ref. 1; BAA31657).	multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	RNA binding|nucleotide binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GCGCCCGCCTCTGATGAACTG	0.597000														48			21		0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103323714	103323714	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr8:103323714A>T	uc003ykr.2	-	19	2884	c.2429T>A	c.(2428-2430)aTt>aAt	p.I810N	UBR5_uc003yks.2_Missense_Mutation_p.I810N	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	810					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TCGAAGAATAATGGGAGATTC	0.358000														28			17		0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18622285	18622285	+	Silent	SNP	T	C	C			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr9:18622285T>C	uc003zne.4	+	4	671	c.519T>C	c.(517-519)gaT>gaC	p.D173D	ADAMTSL1_uc003znb.3_Silent_p.D173D|ADAMTSL1_uc003znc.4_Silent_p.D173D	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	173						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TCAAGGAAGATAACTGTGGGG	0.512000														31			14		0	0	1	0	0
OR5M1	390168	broad.mit.edu	37	11	56380221	56380221	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr11:56380221C>T	uc001nja.1	-	0	758	c.758G>A	c.(757-759)gGa>gAa	p.G253E	OR8U8_uc001nit.2_Intron	NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 1 (OR5M1), mRNA.	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						GAAGAGGGTTCCATAAAACAA	0.443000														60			38		0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48855781	48855781	+	Silent	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr8:48855781G>A	uc003xqi.3	-	9	1011	c.954C>T	c.(952-954)tcC>tcT	p.S318S	PRKDC_uc003xqj.3_Silent_p.S318S	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	318					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GTTTCAGAAAGGATTCCAGGG	0.368000								Non-homologous end-joining						9			5		0	0	1	0	0
AKR1B15	441282	broad.mit.edu	37	7	134254274	134254274	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr7:134254274G>A	uc011kpr.2	+	4	727	c.428G>A	c.(427-429)gGa>gAa	p.G143E		NM_001080538	NP_001074007	C9JRZ8	AK1BF_HUMAN	Homo sapiens aldo-keto reductase family 1, member B15 (AKR1B15), mRNA.	143							oxidoreductase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						TGGCCACAGGGATTCAAGGTT	0.502000														22			11		0	0	1	0	0
LY6K	54742	broad.mit.edu	37	8	143784646	143784646	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr8:143784646C>T	uc011ljv.2	+	2	772	c.355C>T	c.(355-357)Cgc>Tgc	p.R119C	LOC100288181_uc022bcf.1_Non-coding_Transcript|LY6K_uc011ljw.2_3'UTR|LY6K_uc011ljx.2_3'UTR	NM_017527	NP_059997	Q17RY6	LY6K_HUMAN	Homo sapiens lymphocyte antigen 6 complex, locus K (LY6K), transcript variant 1, mRNA.	119	UPAR/Ly6.					anchored to membrane|cytoplasm|extracellular region|nucleolus|plasma membrane				NS(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)	10	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)					TTGTAAAATTCGCTACTGCAA	0.527000														27			13		0	0	1	0	0
FAM179A	165186	broad.mit.edu	37	2	29222135	29222135	+	Silent	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr2:29222135G>A	uc010ezl.3	+	3	579	c.228G>A	c.(226-228)aaG>aaA	p.K76K	FAM179A_uc010ymm.2_Silent_p.K76K	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA.	76							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GTGGCCTCAAGCTGGACACCC	0.632000														6			6		0	0	1	0	0
PYGL	5836	broad.mit.edu	37	14	51383723	51383723	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr14:51383723G>A	uc001wyu.3	-	7	1083	c.956C>T	c.(955-957)tCc>tTc	p.S319F	PYGL_uc010tqq.2_Missense_Mutation_p.S285F|PYGL_uc010anz.1_Missense_Mutation_p.S122F	NM_002863	NP_002854	P06737	PYGL_HUMAN	Homo sapiens phosphorylase, glycogen, liver (PYGL), transcript variant 1, mRNA.	319					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	ACCACGGGTGGAGCCAAACTT	0.488000														36			14		0	0	1	0	0
ZNF177	7730	broad.mit.edu	37	19	9492313	9492313	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr19:9492313T>G	uc021uon.1	+	5	1467	c.1306T>G	c.(1306-1308)Tcc>Gcc	p.S436A	ZNF177_uc002mli.3_Missense_Mutation_p.S276A|ZNF177_uc002mlj.3_3'UTR|ZNF177_uc002mlk.3_Missense_Mutation_p.S276A	NM_001172651	NP_001166122	Q13360	ZN177_HUMAN	Homo sapiens zinc finger protein 177 (ZNF177), transcript variant 1, mRNA.	276					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						CTTTAGGAATTCCTCTTGCCT	0.423000														65			38		0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107920803	107920803	+	Silent	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chrX:107920803C>T	uc022ccg.1	+	43	4084	c.3882C>T	c.(3880-3882)ggC>ggT	p.G1294G	COL4A5_uc004enz.1_Silent_p.G1288G	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	1288	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GAAATCCAGGCCAACCTGGGC	0.488000									Alport syndrome with Diffuse Leiomyomatosis					42			26		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994490	140994490	+	Missense_Mutation	SNP	G	A	A	rs59853306	byFrequency	TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chrX:140994490G>A	uc004fbt.3	+	3	1624	c.1300G>A	c.(1300-1302)Gct>Act	p.A434T	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.A93T	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	434							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TGCTCAAAGTGCTTTTGAGGG	0.463000										HNSCC(15;0.026)				70			4		0	0	1	0	0
HDGFL1	154150	broad.mit.edu	37	6	22570045	22570045	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr6:22570045G>A	uc003nds.3	+	0	368	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K		NM_138574	NP_612641	Q5TGJ6	HDGL1_HUMAN	Homo sapiens hepatoma derived growth factor-like 1 (HDGFL1), mRNA.	81										kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					GGGGCTGTGGGAAATCGAGAA	0.652000														10			6		0	0	1	0	0
PROS1	5627	broad.mit.edu	37	3	93595858	93595858	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr3:93595858C>T	uc003drb.4	-	13	2163	c.1822G>A	c.(1822-1824)Gac>Aac	p.D608N	PROS1_uc010hoo.3_Missense_Mutation_p.D477N|PROS1_uc003dqz.4_Missense_Mutation_p.D477N	NM_000313	NP_000304	P07225	PROS_HUMAN	Homo sapiens protein S (alpha) (PROS1), mRNA.	608	Laminin G-like 2.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	Golgi lumen|Golgi membrane|endoplasmic reticulum membrane|extracellular region|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	p.L607F(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	ATTGCTTTGTCCAAGACGGCA	0.393000														49			32		0	0	1	0	0
PRDM1	639	broad.mit.edu	37	6	106552809	106552809	+	Silent	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr6:106552809C>T	uc003prd.2	+	4	1008	c.774C>T	c.(772-774)tcC>tcT	p.S258S	PRDM1_uc003pre.3_Silent_p.S124S	NM_001198	NP_001189	O75626	PRDM1_HUMAN	Homo sapiens PR domain containing 1, with ZNF domain (PRDM1), transcript variant 1, mRNA.	258					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		AATTGGACTCCAACCCCTCCA	0.468000			"""D, N, Mis, F, S"""		DLBCL									54			97		0	0	1	0	0
CDH4	1002	broad.mit.edu	37	20	60469970	60469970	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr20:60469970T>C	uc002ybn.2	+	7	1143	c.1055T>C	c.(1054-1056)gTt>gCt	p.V352A	CDH4_uc002ybr.2_Missense_Mutation_p.V315A|CDH4_uc002ybp.2_Missense_Mutation_p.V278A	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	352	Cadherin 2.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			TTCCAGAAAGTTCAGCAGTAC	0.448000														56			23		0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174830	150174830	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr7:150174830G>A	uc003whj.3	+	4	2290	c.1960G>A	c.(1960-1962)Gaa>Aaa	p.E654K		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	654						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GTCCCAAGCCGAAAAACTCCT	0.463000														47			20		0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46657221	46657221	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr22:46657221C>T	uc003bhh.3	-	0	1999	c.1999G>A	c.(1999-2001)Gca>Aca	p.A667T		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	667	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GGAGCCTGTGCGGTGGCATGC	0.433000														47			29		0	0	1	0	0
EPB41L1	2036	broad.mit.edu	37	20	34802308	34802308	+	Silent	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr20:34802308G>A	uc010gfq.3	+	6	2871	c.2508G>A	c.(2506-2508)agG>agA	p.R836R	EPB41L1_uc002xeu.3_Intron|EPB41L1_uc010zvo.1_Intron|EPB41L1_uc002xev.3_Silent_p.R737R|EPB41L1_uc002xew.3_Silent_p.R629R|EPB41L1_uc002xex.3_Silent_p.R558R|EPB41L1_uc002xey.3_Intron|EPB41L1_uc002xez.3_Intron|EPB41L1_uc002xfb.3_Silent_p.R738R	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 1 (EPB41L1), transcript variant 1, mRNA.	738	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					CAGTGGGGAGGGAGTTCATAG	0.592000														14			4		0	0	1	0	0
PYGL	5836	broad.mit.edu	37	14	51383426	51383426	+	Silent	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr14:51383426G>A	uc001wyu.3	-	8	1153	c.1026C>T	c.(1024-1026)caC>caT	p.H342H	PYGL_uc010tqq.2_Silent_p.H308H|PYGL_uc010anz.1_Silent_p.H145H	NM_002863	NP_002854	P06737	PYGL_HUMAN	Homo sapiens phosphorylase, glycogen, liver (PYGL), transcript variant 1, mRNA.	342					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	CGAGTGCAGGGTGAGTGTCAT	0.488000														32			11		0	0	1	0	0
OR4C12	283093	broad.mit.edu	37	11	50003858	50003858	+	Silent	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr11:50003858G>A	uc010ria.2	-	0	214	c.180C>T	c.(178-180)ttC>ttT	p.F60F		NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 12 (OR4C12), mRNA.	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F60F(2)		NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						GGTGGGTCAGGAAGAAGTACA	0.408000														28			18		0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr20:33345744C>T	uc002xav.3	-	7	3378	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_uc002xaw.3_Silent_p.Q269Q|NCOA6_uc021wcd.1_Silent_p.Q269Q|NCOA6_uc021wce.1_Silent_p.Q269Q|NCOA6_uc021wcf.1_Silent_p.Q269Q|NCOA6_uc010gew.1_Silent_p.Q226Q	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(29)		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						gctgctgctgctgttgttgtt	0.537000														37			4		0	0	1	0	0
FBXO34	55030	broad.mit.edu	37	14	55819043	55819043	+	Silent	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr14:55819043C>T	uc021rtk.1	+	0	1935	c.1935C>T	c.(1933-1935)tcC>tcT	p.S645S	FBXO34_uc001xbv.3_Non-coding_Transcript|FBXO34_uc001xbu.3_Silent_p.S645S|FBXO34_uc010aoo.3_Silent_p.S645S	NM_152231	NP_689417	Q9NWN3	FBX34_HUMAN	Homo sapiens F-box protein 34 (FBXO34), transcript variant 2, mRNA.	645										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						GGGATGTGTCCCTGTGCCGAT	0.532000														38			22		0	0	1	0	0
PLA2G4F	255189	broad.mit.edu	37	15	42446373	42446373	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr15:42446373C>T	uc001zoz.3	-	3	459	c.367G>A	c.(367-369)Gac>Aac	p.D123N	PLA2G4F_uc001zpa.3_5'UTR|PLA2G4F_uc010bcr.3_5'UTR|PLA2G4F_uc010bcs.3_5'UTR	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN	Homo sapiens phospholipase A2, group IVF (PLA2G4F), transcript variant 1, mRNA.	123	C2.				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)		GAGAGCTGGTCGCTGCCCAGG	0.587000														31			19		0	0	1	0	0
LOC645166	645166	broad.mit.edu	37	1	148932909	148932909	+	RNA	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr1:148932909C>T	uc010pbc.1	+	1		c.224C>T			LOC645166_uc010pbd.1_Non-coding_Transcript|LOC645166_uc009wkw.1_Non-coding_Transcript					Homo sapiens lymphocyte-specific protein 1 pseudogene (LOC645166), transcript variant 2, non-coding RNA.																		GGCCAAGACTCCGTCCTGCAA	0.607000														101			8		0	0	1	0	0
NLGN4X	57502	broad.mit.edu	37	X	5821259	5821259	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chrX:5821259G>A	uc010ndi.3	-	5	2035	c.1571C>T	c.(1570-1572)tCg>tTg	p.S524L	NLGN4X_uc004crp.3_Missense_Mutation_p.S507L|NLGN4X_uc010ndh.3_Missense_Mutation_p.S487L|NLGN4X_uc004crq.3_Missense_Mutation_p.S487L|NLGN4X_uc004crr.3_Missense_Mutation_p.S487L|NLGN4X_uc010ndj.3_Missense_Mutation_p.S487L	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	Homo sapiens neuroligin 4, X-linked (NLGN4X), transcript variant 2, mRNA.	487					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	p.M524I(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						ACCATGGGCCGAATCTGCCCA	0.572000														42			18		0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20673143	20673143	+	Missense_Mutation	SNP	C	T	T	rs146842441		TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr16:20673143C>T	uc002dhm.1	-	5	1033	c.965G>A	c.(964-966)cGa>cAa	p.R322Q	ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Missense_Mutation_p.R322Q	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	322					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding	p.R322Q(2)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						CAGAATCATTCGATATATAGA	0.358000														20			11		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227875029	227875029	+	Splice_Site	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr2:227875029C>T	uc021vxr.1	-	45	4623	c.4522_splice	c.e45+1	p.G1508_splice	COL4A4_uc021vxs.1_Splice_Site_p.G1505_splice	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	1508	Collagen IV NC1.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GTATCCATACCAAGGTCTTGA	0.478000														32			27		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31325072	31325072	+	Silent	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr18:31325072C>T	uc010dmg.1	+	11	5315	c.5260C>T	c.(5260-5262)Cta>Tta	p.L1754L	ASXL3_uc002kxq.2_Silent_p.L1461L	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1754					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GACGCAGTTACTACAGGGCAA	0.537000														21			17		0	0	1	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18808346	18808346	+	Missense_Mutation	SNP	G	A	A	rs138851325		TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr1:18808346G>A	uc001bax.3	+	0	923	c.871G>A	c.(871-873)Gac>Aac	p.D291N	KLHDC7A_uc009vpg.3_Missense_Mutation_p.D73N	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	291						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CAAGGTGTACGACTACTATGT	0.597000														52			25		0	0	1	0	0
SLC6A2	6530	broad.mit.edu	37	16	55719076	55719076	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr16:55719076C>G	uc021tio.1	+	3	717	c.666C>G	c.(664-666)caC>caG	p.H222Q	SLC6A2_uc002eif.3_Missense_Mutation_p.H222Q|SLC6A2_uc002eig.3_Missense_Mutation_p.H222Q|SLC6A2_uc002eii.3_Missense_Mutation_p.H117Q|SLC6A2_uc002eij.3_5'UTR	NM_001172504	NP_001165975	P23975	SC6A2_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2 (SLC6A2), transcript variant 1, mRNA.	222					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TGCACCTTCACGAGAGCAGCG	0.602000														23			14		0	0	1	0	0
PDE5A	8654	broad.mit.edu	37	4	120528212	120528212	+	Silent	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr4:120528212C>T	uc003idh.3	-	1	548	c.393G>A	c.(391-393)aaG>aaA	p.K131K	PDE5A_uc003idf.3_Silent_p.K89K|PDE5A_uc003idg.3_Silent_p.K79K	NM_001083	NP_246273	O76074	PDE5A_HUMAN	Homo sapiens phosphodiesterase 5A, cGMP-specific (PDE5A), transcript variant 1, mRNA.	131					platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding	p.K130N(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	GCATCTGTTCCTTCTTTTCTG	0.458000														35			22		0	0	1	0	0
CNDP1	84735	broad.mit.edu	37	18	72245447	72245447	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr18:72245447G>A	uc002llq.3	+	8	1263	c.1052G>A	c.(1051-1053)gGg>gAg	p.G351E	CNDP1_uc002lls.3_Missense_Mutation_p.G154E	NM_032649	NP_116038	Q96KN2	CNDP1_HUMAN	Homo sapiens carnosine dipeptidase 1 (metallopeptidase M20 family) (CNDP1), mRNA.	351					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		TCTATTCATGGGATCGAGGGC	0.418000														54			20		0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558362	140558362	+	Silent	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr5:140558362G>A	uc011dai.2	+	0	992	c.747G>A	c.(745-747)agG>agA	p.R249R	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	249	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTTCTATAGGGTGCAGATCT	0.488000														509			52		0	0	1	0	0
GC	2638	broad.mit.edu	37	4	72631198	72631198	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr4:72631198C>T	uc010iif.3	-	4	576	c.481G>A	c.(481-483)Gat>Aat	p.D161N	GC_uc003hge.3_Missense_Mutation_p.D142N|GC_uc021xpb.1_Missense_Mutation_p.D142N	NM_001204307	NP_001191236	P02774	VTDB_HUMAN	Homo sapiens group-specific component (vitamin D binding protein) (GC), transcript variant 3, mRNA.	142	Albumin 1.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity	p.W161*(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	CAGATTTCATCATTTGTGGGT	0.458000														61			39		0	0	1	0	0
KIAA1755	85449	broad.mit.edu	37	20	36859657	36859657	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr20:36859657C>T	uc002xhy.1	-	4	2090	c.1818G>A	c.(1816-1818)tgG>tgA	p.W606*	KIAA1755_uc002xhz.1_Nonsense_Mutation_p.W606*	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	Homo sapiens KIAA1755 (KIAA1755), mRNA.	606										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)				AAACTGTGCACCATGGTGCCT	0.632000														12			11		0	0	1	0	0
CCDC155	147872	broad.mit.edu	37	19	49900955	49900955	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr19:49900955G>A	uc002pnm.2	+	5	653	c.448G>A	c.(448-450)Gaa>Aaa	p.E150K	CCDC155_uc002pnl.2_Missense_Mutation_p.E150K|CCDC155_uc010emx.2_Missense_Mutation_p.E123K	NM_144688	NP_653289	Q8N6L0	CC155_HUMAN	Homo sapiens coiled-coil domain containing 155 (CCDC155), mRNA.	150						integral to membrane	calcium ion binding	p.E150K(2)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						CTTCGGAGGCGAAGACCCCAG	0.627000														45			29		0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121786837	121786837	+	Silent	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr5:121786837C>T	uc003ksw.1	+	9	2501	c.2295C>T	c.(2293-2295)ggC>ggT	p.G765G	SNCAIP_uc011cwl.1_Silent_p.G323G|SNCAIP_uc003ksy.1_Silent_p.G399G|SNCAIP_uc003ksx.1_Silent_p.G812G|SNCAIP_uc003ksz.1_Silent_p.G399G|SNCAIP_uc010jcu.2_Silent_p.G361G|SNCAIP_uc011cwm.1_Silent_p.G399G|SNCAIP_uc003kta.1_Silent_p.G397G|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Silent_p.G459G|SNCAIP_uc010jcx.1_Silent_p.G705G|BC029465_uc003ktb.1_Intron|SNCAIP_uc003ktc.1_Silent_p.G281G	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	765					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		AGTATCCAGGCTCAGGGAGTA	0.572000														14			9		0	0	1	0	0
MUC3A	4584	broad.mit.edu	37	7	100551674	100551674	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr7:100551674G>A	uc003uxl.1	+	0	925	c.125G>A	c.(124-126)gGg>gAg	p.G42E	MUC3A_uc003uxk.1_Non-coding_Transcript					SubName: Full=Intestinal mucin; Flags: Fragment;											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						TCAGCCACTGGGACCCAAACA	0.483000														171			91		0	0	1	0	0
PIP4K2A	5305	broad.mit.edu	37	10	22898620	22898620	+	Silent	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr10:22898620G>A	uc001irl.4	-	1	419	c.171C>T	c.(169-171)atC>atT	p.I57I		NM_005028	NP_005019	P48426	PI42A_HUMAN	Homo sapiens phosphatidylinositol-5-phosphate 4-kinase, type II, alpha (PIP4K2A), mRNA.	57	PIPK.						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						ACATAACAGGGATTTGAACAT	0.353000														11			25		0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57188367	57188367	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr7:57188367C>T	uc010kzo.3	-	4	1026	c.755G>A	c.(754-756)tGg>tAg	p.W252*		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	Homo sapiens zinc finger protein 479 (ZNF479), mRNA.	252					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			GTTTGCAGACCAGCTAAAGGC	0.428000														21			12		0	0	1	0	0
ZKSCAN1	7586	broad.mit.edu	37	7	99631442	99631442	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr7:99631442T>G	uc003usk.1	+	5	1533	c.1314T>G	c.(1312-1314)tgT>tgG	p.C438W	ZKSCAN1_uc003usl.1_Missense_Mutation_p.C402W|ZKSCAN1_uc003usm.1_Missense_Mutation_p.C225W	NM_003439	NP_003430	P17029	ZKSC1_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 1 (ZKSCAN1), mRNA.	438					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			GTAACGAGTGTGGCAAGGCCT	0.493000														89			71		0	0	1	0	0
CNR2	1269	broad.mit.edu	37	1	24201640	24201640	+	Silent	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr1:24201640G>A	uc021oij.1	-	0	468	c.468C>T	c.(466-468)atC>atT	p.I156I	CNR2_uc001bif.3_Silent_p.I156I	NM_001841	NP_001832	P34972	CNR2_HUMAN	Homo sapiens cannabinoid receptor 2 (macrophage) (CNR2), mRNA.	156					G-protein signaling, coupled to cyclic nucleotide second messenger|behavior|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Nabilone(DB00486)	GGACCCACATGATGCCCAGGG	0.592000														28			21		0	0	1	0	0
BRD4	23476	broad.mit.edu	37	19	15375507	15375507	+	Missense_Mutation	SNP	G	A	A	rs149454272		TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr19:15375507G>A	uc002nar.3	-	5	1142	c.920C>T	c.(919-921)cCc>cTc	p.P307L	BRD4_uc002nas.3_Missense_Mutation_p.P307L|BRD4_uc002nat.3_Missense_Mutation_p.P307L|BRD4_uc002nau.4_Missense_Mutation_p.P307L	NM_058243	NP_490597	O60885	BRD4_HUMAN	Homo sapiens bromodomain containing 4 (BRD4), transcript variant long, mRNA.	307					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GGGCAGCGAGGGTGGCTCGTG	0.627000			T	C15orf55	lethal midline carcinoma of young people						OREG0025319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		81			24		0	0	1	0	0
OR11L1	391189	broad.mit.edu	37	1	248004442	248004442	+	Missense_Mutation	SNP	C	T	T	rs141952418	byFrequency	TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr1:248004442C>T	uc001idn.1	-	0	757	c.757G>A	c.(757-759)Ggg>Agg	p.G253R		NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily L, member 1 (OR11L1), mRNA.	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			ATCATGGTCCCGTAGTAGAGA	0.493000														36			16		0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17743617	17743617	+	Silent	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr19:17743617G>A	uc021uqk.1	-	27	3441	c.3399C>T	c.(3397-3399)ttC>ttT	p.F1133F		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.	1134	MHD1.			A -> S (in Ref. 3).	exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CGCGGTCCTTGAAGGCGGGAA	0.542000														35			13		0	0	1	0	0
FAM49A	81553	broad.mit.edu	37	2	16742485	16742485	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr2:16742485C>T	uc010exm.2	-	6	722	c.574G>A	c.(574-576)Gaa>Aaa	p.E192K	FAM49A_uc002rck.2_Missense_Mutation_p.E192K	NM_030797	NP_110424	Q9H0Q0	FA49A_HUMAN	Homo sapiens family with sequence similarity 49, member A (FAM49A), mRNA.	192						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)			GGCGTGGCTTCTGCATAGAAG	0.398000														41			15		0	0	1	0	0
NIPBL	25836	broad.mit.edu	37	5	36985459	36985459	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr5:36985459A>T	uc003jkl.4	+	9	2676	c.2177A>T	c.(2176-2178)aAa>aTa	p.K726I	NIPBL_uc003jkk.4_Missense_Mutation_p.K726I|NIPBL_uc003jkm.1_Missense_Mutation_p.K605I	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	726					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GAAACCCCAAAACAGAAGGGT	0.468000														32			13		0	0	1	0	0
ZNF260	339324	broad.mit.edu	37	19	37005999	37005999	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr19:37005999T>C	uc002oee.2	-	3	1064	c.142A>G	c.(142-144)Atg>Gtg	p.M48V	ZNF260_uc010eey.2_Missense_Mutation_p.M48V|ZNF260_uc002oef.2_Missense_Mutation_p.M48V|ZNF260_uc002oed.2_Missense_Mutation_p.M48V|ZNF260_uc021uti.1_Missense_Mutation_p.M48V	NM_001012756	NP_001159510	Q3ZCT1	ZN260_HUMAN	Homo sapiens zinc finger protein 260 (ZNF260), transcript variant 1, mRNA.	48					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					CCAGTATGCATTTTCTTATGC	0.378000														45			24		0	0	1	0	0
ECM2	1842	broad.mit.edu	37	9	95285037	95285037	+	Silent	SNP	A	G	G			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr9:95285037A>G	uc011lty.2	-	1	299	c.112T>C	c.(112-114)Ttg>Ctg	p.L38L	CENPP_uc004arz.3_Intron|CENPP_uc010mqx.3_Intron|ECM2_uc004asf.4_Silent_p.L38L|ECM2_uc004asg.3_Silent_p.L38L|ECM2_uc011ltz.1_Silent_p.L38L|ECM2_uc004asi.3_Silent_p.L38L	NM_001393	NP_001384	O94769	ECM2_HUMAN	Homo sapiens extracellular matrix protein 2, female organ and adipocyte specific (ECM2), transcript variant 1, mRNA.	38					cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						CTTTTCCTCAACCTTCTGTGG	0.358000														58			23		0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189582083	189582083	+	Silent	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr3:189582083G>A	uc003fry.2	+	4	731	c.642G>A	c.(640-642)aaG>aaA	p.K214K	TP63_uc003frx.2_Silent_p.K214K|TP63_uc003frz.2_Silent_p.K214K|TP63_uc010hzc.1_Silent_p.K214K|TP63_uc003fsa.2_Silent_p.K120K|TP63_uc003fsb.2_Silent_p.K120K|TP63_uc003fsc.2_Silent_p.K120K|TP63_uc003fsd.2_Silent_p.K120K|TP63_uc021xir.1_Silent_p.K120K|TP63_uc010hzd.1_Silent_p.K35K|TP63_uc003fse.1_Silent_p.K95K	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	214					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TCCAGATCAAGGTGATGACCC	0.532000										HNSCC(45;0.13)				75			49		0	0	1	0	0
OR7D2	162998	broad.mit.edu	37	19	9296743	9296743	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr19:9296743G>A	uc002mkz.1	+	0	474	c.286G>A	c.(286-288)Gac>Aac	p.D96N		NM_175883	NP_787079	Q96RA2	OR7D2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily D, member 2 (OR7D2), mRNA.	96					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						CTCCTACATGGACTGCCTCAC	0.522000														58			36		0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103300663	103300663	+	Silent	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr2:103300663C>T	uc002tca.3	+	4	1435	c.1293C>T	c.(1291-1293)atC>atT	p.I431I		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	431						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						ACCAGTTCATCATTGCCTATG	0.453000														45			31		0	0	1	0	0
SLC9C1	285335	broad.mit.edu	37	3	111873889	111873889	+	Silent	SNP	A	G	G			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr3:111873889A>G	uc003dyu.3	-	26	3594	c.3372T>C	c.(3370-3372)gtT>gtC	p.V1124V	SLC9C1_uc011bhu.2_Silent_p.V387V|SLC9C1_uc010hqc.3_Silent_p.V1076V	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA.	1124					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										CCAATGTTCCAACTGAACCTG	0.313000														17			14		0	0	1	0	0
HDGFL1	154150	broad.mit.edu	37	6	22570069	22570069	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr6:22570069C>T	uc003nds.3	+	0	392	c.265C>T	c.(265-267)Cag>Tag	p.Q89*		NM_138574	NP_612641	Q5TGJ6	HDGL1_HUMAN	Homo sapiens hepatoma derived growth factor-like 1 (HDGFL1), mRNA.	89										kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					CCCCACGGTCCAGGCCTCCGA	0.662000														10			6		0	0	1	0	0
LILRA5	353514	broad.mit.edu	37	19	54818767	54818767	+	Silent	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr19:54818767C>T	uc002qfe.3	-	6	951	c.831G>A	c.(829-831)gtG>gtA	p.V277V	LILRA5_uc002qff.3_Silent_p.V265V	NM_021250	NP_067073	A6NI73	LIRA5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 (LILRA5), transcript variant 1, mRNA.	277					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)		TCCCAAGGACCACCAGGATCA	0.532000														43			21		0	0	1	0	0
GGT6	124975	broad.mit.edu	37	17	4462866	4462866	+	Silent	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr17:4462866G>A	uc010vsc.2	-	1	390	c.330C>T	c.(328-330)atC>atT	p.I110I	GGT6_uc010vsb.2_5'UTR|GGT6_uc002fyd.4_Silent_p.I110I|GGT6_uc002fyc.4_Silent_p.I110I	NM_001122890	NP_001116362	Q6P531	GGT6_HUMAN	Homo sapiens gamma-glutamyltransferase 6 (GGT6), transcript variant 1, mRNA.	110					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			endometrium(2)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						CAGGGCTGATGATGGCACCGT	0.672000														13			8		0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133541577	133541577	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr2:133541577G>A	uc002ttp.3	-	13	3181	c.2807C>T	c.(2806-2808)tCc>tTc	p.S936F	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	936							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CAGGGAGACGGACCTGCCTGG	0.622000														12			10		0	0	1	0	0
WFDC2	10406	broad.mit.edu	37	20	44099042	44099042	+	Silent	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr20:44099042G>A	uc002xoo.3	+	1	121	c.93G>A	c.(91-93)gaG>gaA	p.E31E	WFDC2_uc002xoq.3_Non-coding_Transcript|WFDC2_uc002xop.3_Intron	NM_006103	NP_006094	Q14508	WFDC2_HUMAN	Homo sapiens WAP four-disulfide core domain 2 (WFDC2), mRNA.	31	WAP 1.				proteolysis|spermatogenesis	extracellular space	serine-type endopeptidase inhibitor activity			lung(1)	1		Myeloproliferative disorder(115;0.0122)				CAGGAGCAGAGAAGACTGGCG	0.662000														3			4		0	0	1	0	0
AHSP	51327	broad.mit.edu	37	16	31539946	31539946	+	Silent	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr16:31539946C>T	uc002ecj.3	+	2	328	c.243C>T	c.(241-243)ttC>ttT	p.F81F		NM_016633	NP_057717	Q9NZD4	AHSP_HUMAN	Homo sapiens alpha hemoglobin stabilizing protein (AHSP), mRNA.	81					hemoglobin metabolic process|hemopoiesis|protein folding|protein stabilization	hemoglobin complex	hemoglobin binding|unfolded protein binding			lung(2)	2						CCAACCCTTTCCTGGCCAAGT	0.587000														16			7		0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46099262	46099262	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr4:46099262G>A	uc003gxb.3	-	1	361	c.209C>T	c.(208-210)tCa>tTa	p.S70L		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA.	70					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.S70L(2)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TTGAAGCAATGAATTCAGAAT	0.383000														53			23		0	0	1	0	0
FAM83F	113828	broad.mit.edu	37	22	40417436	40417437	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr22:40417436_40417437GG>AA	uc003ayk.1	+	3	1016_1017	c.922_923GG>AA	c.(922-924)ggc>AAc	p.G308N		NM_138435	NP_612444	Q8NEG4	FA83F_HUMAN	Homo sapiens family with sequence similarity 83, member F (FAM83F), mRNA.	308										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						GAGCCTGGCGGGCAGGGTTGGC	0.614000														83			41		0	0	1	0	0
OR2Z1	284383	broad.mit.edu	37	19	8842237	8842237	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr19:8842237C>T	uc010xkg.2	+	0	847	c.847C>T	c.(847-849)Cct>Tct	p.P283S		NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Z, member 1 (OR2Z1), mRNA.	283					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						CCTTGTCACCCCTACACTCAA	0.522000														49			14		0	0	1	0	0
SSR4	6748	broad.mit.edu	37	X	153063533	153063534	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chrX:153063533_153063534GG>AA	uc004fiv.3	+	5	510_511	c.392_393GG>AA	c.(391-393)agg>aAA	p.R131K	SSR4_uc022chw.1_Missense_Mutation_p.R128K|SSR4_uc022chx.1_Non-coding_Transcript|SSR4_uc004fiw.3_Missense_Mutation_p.R120K	NM_001204526	NP_001191455	P51571	SSRD_HUMAN	Homo sapiens signal sequence receptor, delta (SSR4), transcript variant 1, mRNA.	120					intracellular protein transport	Sec61 translocon complex|integral to membrane	calcium ion binding|protein binding			central_nervous_system(1)|endometrium(1)|lung(2)	4	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					caGGCTCAGAGGAATAACGAGG	0.619000														128			56		0	0	1	0	0
CC2D1A	54862	broad.mit.edu	37	19	14024394	14024395	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr19:14024394_14024395CC>TT	uc002mxo.2	+	5	990_991	c.691_692CC>TT	c.(691-693)cct>TTt	p.P231F	CC2D1A_uc002mxn.2_Missense_Mutation_p.P130F|CC2D1A_uc002mxp.2_Missense_Mutation_p.P231F|CC2D1A_uc010dzh.2_5'UTR	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	Homo sapiens coiled-coil and C2 domain containing 1A (CC2D1A), mRNA.	231	Pro-rich.				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			CCTGGAGGGACCTTCTGCCACC	0.678000														24			9		0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	86808051	86808051	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr15:86808051G>A	uc002blz.1	+	9	1591	c.1511G>A	c.(1510-1512)cGa>cAa	p.R504Q	AGBL1_uc002bma.1_Missense_Mutation_p.R235Q|AGBL1_uc002bmb.1_Missense_Mutation_p.R198Q	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	504					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						ATGTTGGAACGAAAATGTGGA	0.443000														29			20		0	0	1	0	0
PSME3	10197	broad.mit.edu	37	17	40993547	40993547	+	Silent	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr17:40993547C>T	uc002ibq.3	+	10	982	c.756C>T	c.(754-756)atC>atT	p.I252I	PSME3_uc002ibp.3_Silent_p.I178I|PSME3_uc002ibr.3_Silent_p.I239I|PSME3_uc002ibs.3_Silent_p.I250I|PSME3_uc010whd.2_Silent_p.I126I	NM_176863	NP_789839	P61289	PSME3_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki) (PSME3), transcript variant 2, mRNA.	239					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of proteasomal protein catabolic process|viral reproduction	cytoplasm|nucleus|proteasome activator complex	MDM2 binding|endopeptidase activator activity|identical protein binding|p53 binding			NS(1)|cervix(1)|large_intestine(3)|lung(1)	6		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TGAAAAATATCGAGAAGATCA	0.507000														19			6		0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12337004	12337004	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr1:12337004T>A	uc001atv.3	+	18	3500	c.3359T>A	c.(3358-3360)gTg>gAg	p.V1120E	VPS13D_uc001atw.3_Missense_Mutation_p.V1120E|VPS13D_uc001atx.3_Missense_Mutation_p.V308E	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	1120					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GAGACGATTGTGGAGCTAATT	0.368000														25			25		0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55872644	55872644	+	Silent	SNP	G	A	A	rs142929368		TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr11:55872644G>A	uc010riy.2	+	0	126	c.126G>A	c.(124-126)ggG>ggA	p.G42G		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA.	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CTATGCTGGGGAATGTGGGGA	0.423000										HNSCC(53;0.14)				139			73		0	0	1	0	0
CSTF3	1479	broad.mit.edu	37	11	33123833	33123833	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr11:33123833G>A	uc001muh.3	-	9	882	c.716C>T	c.(715-717)cCt>cTt	p.P239L	TCP11L1_uc001muf.1_Intron	NM_001326	NP_001317	Q12996	CSTF3_HUMAN	Homo sapiens cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa (CSTF3), transcript variant 1, mRNA.	239					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	RNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						AGTATTCTGAGGAGGCACCGA	0.433000														34			22		0	0	1	0	0
CHGA	1113	broad.mit.edu	37	14	93398731	93398731	+	Silent	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr14:93398731G>A	uc001ybc.4	+	6	1085	c.825G>A	c.(823-825)ctG>ctA	p.L275L	CHGA_uc001ybd.4_Silent_p.L124L	NM_001275	NP_001266	P10645	CMGA_HUMAN	Homo sapiens chromogranin A (parathyroid secretory protein 1) (CHGA), mRNA.	275					regulation of blood pressure	extracellular region|stored secretory granule				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		CGGAGGCTCTGGCTGTGGATG	0.642000														2			4		0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55106812	55106812	+	Silent	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr19:55106812G>A	uc002qgh.1	+	4	788	c.606G>A	c.(604-606)tcG>tcA	p.S202S	LILRA1_uc010yfg.1_Intron|LILRA1_uc010yfh.2_Silent_p.S202S	NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	202	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CTTATGACTCGAACTCTCCCC	0.587000														57			51		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10408543	10408543	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr17:10408543C>T	uc002gmo.3	-	20	2466	c.2372G>A	c.(2371-2373)cGa>cAa	p.R791Q	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	791	IQ.					muscle myosin complex|myofibril|myosin filament	ATP binding|actin 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						GGCCTGGGTTCGGGTAATCAG	0.458000														32			22		0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41008083	41008083	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr19:41008083G>A	uc002ony.3	+	8	1032	c.946G>A	c.(946-948)Gag>Aag	p.E316K	SPTBN4_uc002onx.3_Missense_Mutation_p.E316K|SPTBN4_uc002onz.3_Missense_Mutation_p.E316K	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	316					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACGCTACGAGGAGCTGGCGGC	0.597000														34			31		0	0	1	0	0
UBN1	29855	broad.mit.edu	37	16	4924931	4924931	+	Silent	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr16:4924931C>T	uc002cyb.3	+	14	2859	c.2520C>T	c.(2518-2520)tcC>tcT	p.S840S	UBN1_uc010uxw.2_Silent_p.S840S|UBN1_uc002cyc.3_Silent_p.S840S	NM_001079514	NP_058632	Q9NPG3	UBN1_HUMAN	Homo sapiens ubinuclein 1 (UBN1), transcript variant 2, mRNA.	840					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						GTCATCGTTCCCTCCTGCAGT	0.577000														31			24		0	0	1	0	0
GSTA1	2938	broad.mit.edu	37	6	52657684	52657684	+	Silent	SNP	G	A	A	rs1051873		TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr6:52657684G>A	uc003paz.3	-	5	628	c.516C>T	c.(514-516)tcC>tcT	p.S172S	GSTA1_uc021zan.1_Silent_p.S172S	NM_145740	NP_665683	P08263	GSTA1_HUMAN	Homo sapiens glutathione S-transferase alpha 1 (GSTA1), mRNA.	172	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12	Lung NSC(77;0.118)				Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)	AGATAAGACTGGAGTCAAGCT	0.532000														60			32		0	0	1	0	0
SLC16A14	151473	broad.mit.edu	37	2	230910935	230910935	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr2:230910935C>A	uc002vqd.2	-	3	1366	c.907G>T	c.(907-909)Ggc>Tgc	p.G303C	FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.3_Missense_Mutation_p.G303C|SLC16A14_uc002vqf.3_Missense_Mutation_p.G303C	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	Homo sapiens solute carrier family 16, member 14 (monocarboxylic acid transporter 14) (SLC16A14), mRNA.	303						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		CCAAAGTAGCCCGAATACCAG	0.493000														24			16		1.3612e-06	1.37541e-06	1	1	0
RBM46	166863	broad.mit.edu	37	4	155749207	155749207	+	Silent	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr4:155749207C>T	uc003ioo.3	+	4	1763	c.1590C>T	c.(1588-1590)gcC>gcT	p.A530A	RBM46_uc011cim.1_3'UTR|RBM46_uc003iop.1_3'UTR	NM_144979	NP_659416	Q8TBY0	RBM46_HUMAN	Homo sapiens RNA binding motif protein 46 (RBM46), mRNA.	530							RNA binding|nucleotide binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				CCAATCAGGCCTCCTTCTTCT	0.353000														57			31		0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558879	140558879	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr5:140558879A>T	uc011dai.2	+	0	1509	c.1264A>T	c.(1264-1266)Atc>Ttc	p.I422F	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	422	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAACGTCACTATCACCGTCAC	0.517000														406			29		0	0	1	0	0
CDR1	1038	broad.mit.edu	37	X	139866023	139866023	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chrX:139866023C>T	uc004fbg.1	-	0	701	c.509G>A	c.(508-510)gGa>gAa	p.G170E	AK054921_uc004fbf.1_Non-coding_Transcript	NM_004065	NP_004056	P51861	CDR1_HUMAN	Homo sapiens cerebellar degeneration-related protein 1, 34kDa (CDR1), mRNA.	170	6 X 6 AA approximate repeats.							p.G170E(2)|p.R169C(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				TCCAGAAAATCCACGTCTTCC	0.433000														131			67		0	0	1	0	0
PROL1	58503	broad.mit.edu	37	4	71275436	71275436	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr4:71275436C>T	uc003hfi.3	+	2	565	c.391C>T	c.(391-393)Ctt>Ttt	p.L131F		NM_021225	NP_067048	Q99935	PROL1_HUMAN	Homo sapiens proline rich, lacrimal 1 (PROL1), mRNA.	131	Pro-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				TCCTTTTTTTCTTGCTATTTA	0.428000														77			38		0	0	1	0	0
PAM	5066	broad.mit.edu	37	5	102310126	102310126	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr5:102310126C>T	uc003knt.3	+	13	1842	c.1469C>T	c.(1468-1470)cCa>cTa	p.P490L	PAM_uc003knw.3_Missense_Mutation_p.P490L|PAM_uc003kns.3_Intron|PAM_uc003knu.3_Missense_Mutation_p.P490L|PAM_uc011cuz.2_Missense_Mutation_p.P393L|PAM_uc003knv.3_Missense_Mutation_p.P490L|PAM_uc003knx.1_Intron|PAM_uc003kny.1_Non-coding_Transcript	NM_000919	NP_000910	P19021	AMD_HUMAN	Homo sapiens peptidylglycine alpha-amidating monooxygenase (PAM), transcript variant 1, mRNA.	490	Peptidylglycine alpha-hydroxylating monooxygenase (By similarity).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	ACCTGGGAACCAGAACACACA	0.458000														31			20		0	0	1	0	0
ZNF460	10794	broad.mit.edu	37	19	57803216	57803216	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr19:57803216C>T	uc002qog.2	+	2	1629	c.1307C>T	c.(1306-1308)aCa>aTa	p.T436I	ZNF460_uc010ygv.1_Missense_Mutation_p.T395I	NM_006635	NP_006626	Q14592	ZN460_HUMAN	Homo sapiens zinc finger protein 460 (ZNF460), mRNA.	436					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCAGGGCTCACAAGGCACCAG	0.473000														20			15		0	0	1	0	0
BOC	91653	broad.mit.edu	37	3	112969628	112969628	+	Silent	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr3:112969628C>T	uc003dzx.3	+	3	945	c.324C>T	c.(322-324)gcC>gcT	p.A108A	BOC_uc010hqi.3_Silent_p.A108A|BOC_uc003dzy.3_Silent_p.A108A|BOC_uc003dzz.3_Silent_p.A108A|BOC_uc003dzw.1_Silent_p.A108A|BOC_uc003eaa.1_Silent_p.A108A	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	Homo sapiens Boc homolog (mouse) (BOC), mRNA.	108	Ig-like C2-type 1.				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			AGTGTGTGGCCCGGATGCCTG	0.622000														31			15		0	0	1	0	0
VPS37B	79720	broad.mit.edu	37	12	123352008	123352008	+	Silent	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr12:123352008C>T	uc001udl.3	-	3	616	c.513G>A	c.(511-513)caG>caA	p.Q171Q		NM_024667	NP_078943	Q9H9H4	VP37B_HUMAN	Homo sapiens vacuolar protein sorting 37 homolog B (S. cerevisiae) (VPS37B), mRNA.	171	Pro-rich.|VPS37 C-terminal.				cellular membrane organization|endosome transport|protein transport	late endosome membrane				breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		GGGCCAGGGCCTGTGGGAGTC	0.637000														54			48		0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143048830	143048830	+	Silent	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr7:143048830G>A	uc003wcr.1	+	22	2826	c.2739G>A	c.(2737-2739)agG>agA	p.R913R	CLCN1_uc011ktc.1_Silent_p.R525R	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	913					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CTGAGGACAGGCCTGGGGCCA	0.632000														35			22		0	0	1	0	0
CYP24A1	1591	broad.mit.edu	37	20	52774074	52774074	+	Silent	SNP	A	G	G			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr20:52774074A>G	uc002xwv.2	-	9	1685	c.1287T>C	c.(1285-1287)ttT>ttC	p.F429F	CYP24A1_uc002xwu.1_Silent_p.F287F|CYP24A1_uc002xww.2_Intron	NM_000782	NP_000773	Q07973	CP24A_HUMAN	Homo sapiens cytochrome P450, family 24, subfamily A, polypeptide 1 (CYP24A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	429					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	TTGAATCTTCAAAATTGTCTT	0.393000														32			15		0	0	1	0	0
PAX8	7849	broad.mit.edu	37	2	113994256	113994256	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr2:113994256C>T	uc010yxt.2	-	7	986	c.820G>A	c.(820-822)Ggg>Agg	p.G274R	PAX8_uc010yxu.2_Missense_Mutation_p.G274R|PAX8_uc002tjm.3_Intron|PAX8_uc002tjn.3_Intron|LOC654433_uc002tjp.2_Intron|LOC654433_uc002tjq.4_Intron|LOC654433_uc010fks.3_Intron|LOC654433_uc010fkt.3_Intron|LOC654433_uc002tjr.4_Intron	NM_003466	NP_003457	Q06710	PAX8_HUMAN	Homo sapiens paired box 8 (PAX8), transcript variant PAX8A, mRNA.	274					branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric S-shaped body morphogenesis|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	RNA polymerase II core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						GTGGCCTTCCCGTCGTCCAGG	0.642000			T	PPARG	follicular thyroid		Thyroid dysgenesis							6			4		0	0	1	0	0
SUPT6H	6830	broad.mit.edu	37	17	27018067	27018067	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr17:27018067C>T	uc010crt.3	+	27	3811	c.3619C>T	c.(3619-3621)Cct>Tct	p.P1207S	SUPT6H_uc002hby.3_Missense_Mutation_p.P1207S|SUPT6H_uc002hbz.1_Missense_Mutation_p.P139S	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA.	1207					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|hydrolase activity, acting on ester bonds|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GGACAATTTCCCTGAACTAAG	0.537000														16			6		0	0	1	0	0
TLR9	54106	broad.mit.edu	37	3	52263076	52263077	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr3:52263076_52263077GG>AA	uc003ddd.3	-	8	1174_1175	c.1023_1024CC>TT	c.(1021-1026)ggcccg>ggTTcg	p.P342S	TLR9_uc003dda.2_5'Flank|TLR9_uc003ddb.3_Intron|TLR9_uc003ddc.1_Intron	NM_007284	NP_009215	Q9NR96	TLR9_HUMAN	Homo sapiens twinfilin, actin-binding protein, homolog 2 (Drosophila) (TWF2), mRNA.	0					I-kappaB phosphorylation|defense response to bacterium|fibroblast growth factor receptor signaling pathway|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	TTTTCACCCGGGCCGCGGATGA	0.668000														35			24		0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55273210	55273210	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr7:55273210C>T	uc003tqk.3	+	27	3779	c.3533C>T	c.(3532-3534)cCc>cTc	p.P1178L	EGFR_uc022adn.1_Missense_Mutation_p.P1133L|EGFR_uc011kco.2_Missense_Mutation_p.P1125L	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	1178					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GACTTCTTTCCCAAGGAAGCC	0.517000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				19			6		0	0	1	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27999382	27999382	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chrX:27999382C>T	uc004dbx.1	-	0	185	c.70G>A	c.(70-72)Gag>Aag	p.E24K		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA.	24										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						GACTGCTCCTCTGGGCTGCTG	0.567000														31			11		0	0	1	0	0
ZNF761	388561	broad.mit.edu	37	19	53959453	53959453	+	Silent	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr19:53959453C>T	uc010eqp.3	+	6	2150	c.1692C>T	c.(1690-1692)acC>acT	p.T564T	ZNF761_uc010ydy.2_Silent_p.T510T|ZNF761_uc002qbt.2_Silent_p.T510T	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN	Homo sapiens zinc finger protein 761 (ZNF761), mRNA.	564					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		AGCAGTTAACCCTTAAACGCC	0.408000														38			26		0	0	1	0	0
ALG3	10195	broad.mit.edu	37	3	183961398	183961398	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr3:183961398G>A	uc003fne.2	-	6	984	c.953C>T	c.(952-954)tCg>tTg	p.S318L	ALG3_uc011brc.1_Missense_Mutation_p.S283L|ALG3_uc011brd.1_Missense_Mutation_p.S262L|ALG3_uc011bre.1_Missense_Mutation_p.S270L	NM_005787	NP_005778	Q92685	ALG3_HUMAN	Homo sapiens asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae) (ALG3), transcript variant 1, mRNA.	318					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCTCAGCAGCGACAAGATACT	0.488000														19			4		0	0	1	0	0
URGCP	55665	broad.mit.edu	37	7	43916580	43916580	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr7:43916580G>A	uc003tiw.3	-	5	2539	c.2482C>T	c.(2482-2484)Ccc>Tcc	p.P828S	URGCP_uc022acg.1_Intron|URGCP_uc003tiu.3_Missense_Mutation_p.P785S|URGCP_uc003tiv.3_Missense_Mutation_p.P753S|URGCP_uc003tix.3_Missense_Mutation_p.P819S|URGCP_uc003tiy.3_Missense_Mutation_p.P785S|URGCP_uc003tiz.3_Missense_Mutation_p.P785S|URGCP_uc011kbj.2_Missense_Mutation_p.P785S	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN	Homo sapiens upregulator of cell proliferation (URGCP), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	828					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTAGGGCCGGGAACAGATACA	0.547000														21			12		0	0	1	0	0
MOB2	81532	broad.mit.edu	37	11	1502019	1502019	+	Silent	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr11:1502019G>A	uc010qwz.2	-	1	369	c.207C>T	c.(205-207)ttC>ttT	p.F69F	MOB2_uc001ltq.2_Silent_p.F32F|MOB2_uc001lto.2_5'UTR|MOB2_uc001ltp.1_5'UTR	NM_001172223	NP_001165694	Q70IA6	MOB2_HUMAN	Homo sapiens MOB kinase activator 2 (MOB2), transcript variant 1, mRNA.	38						nucleus|perinuclear region of cytoplasm	metal ion binding			breast(1)|kidney(2)|lung(1)	4						CCTTGAACTGGAAGTCGGTGA	0.647000														4			4		0	0	1	0	0
POLRMT	5442	broad.mit.edu	37	19	629923	629923	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr19:629923G>A	uc002lpf.1	-	2	495	c.439C>T	c.(439-441)Cca>Tca	p.P147S		NM_005035	NP_005026	O00411	RPOM_HUMAN	Homo sapiens polymerase (RNA) mitochondrial (DNA directed) (POLRMT), nuclear gene encoding mitochondrial protein, mRNA.	147					transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding	p.P147T(2)		cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCTGGAATGGCATCTGCAGC	0.652000														16			13		0	0	1	0	0
SLC7A13	157724	broad.mit.edu	37	8	87242405	87242405	+	Silent	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr8:87242405G>A	uc003ydq.1	-	0	200	c.102C>T	c.(100-102)tcC>tcT	p.S34S	SLC7A13_uc003ydr.1_Silent_p.S34S	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	Homo sapiens solute carrier family 7 (anionic amino acid transporter), member 13 (SLC7A13), mRNA.	34						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						CACCTTTGGGGGACACAAAAA	0.468000														47			18		0	0	1	0	0
BRIP1	83990	broad.mit.edu	37	17	59763418	59763418	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr17:59763418G>A	uc002izk.2	-	18	2990	c.2684C>T	c.(2683-2685)tCc>tTc	p.S895F	BRIP1_uc002izl.1_Missense_Mutation_p.S276F	NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN	Homo sapiens BRCA1 interacting protein C-terminal helicase 1 (BRIP1), mRNA.	895	Interaction with BRCA1.				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						GTCCTTTATGGATACATTAAG	0.393000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks						51			47		0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32634732	32634732	+	Silent	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr9:32634732C>T	uc003zrg.1	-	0	936	c.846G>A	c.(844-846)agG>agA	p.R282R	AX747113_uc003zrh.1_Non-coding_Transcript	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	282					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GATGCTTCTTCCTCTTTCTCC	0.463000														55			36		0	0	1	0	0
ODZ2	57451	broad.mit.edu	37	5	167627132	167627132	+	Silent	SNP	T	C	C			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr5:167627132T>C	uc010jjd.3	+	16	3399	c.3399T>C	c.(3397-3399)gcT>gcC	p.A1133A	ODZ2_uc003lzr.4_Silent_p.A910A|ODZ2_uc003lzt.4_Silent_p.A506A|ODZ2_uc010jje.3_Silent_p.A404A	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		TCTCAGATGCTGTTGGTATGT	0.443000														5			5		0	0	1	0	0
GPC4	2239	broad.mit.edu	37	X	132473317	132473317	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chrX:132473317C>T	uc004exc.1	-	1	425	c.213G>A	c.(211-213)atG>atA	p.M71I	GPC4_uc011mvg.1_Missense_Mutation_p.M1I	NM_001448	NP_001439	O75487	GPC4_HUMAN	Homo sapiens glypican 4 (GPC4), mRNA.	71					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					ACTTCTCCTCCATCTCTTGAG	0.418000														25			21		0	0	1	0	0
OTUD5	55593	broad.mit.edu	37	X	48814363	48814363	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chrX:48814363C>T	uc004dlu.3	-	0	531	c.470G>A	c.(469-471)gGg>gAg	p.G157E	OTUD5_uc004dlt.4_Missense_Mutation_p.G157E|OTUD5_uc004dlv.3_Missense_Mutation_p.G157E|OTUD5_uc011mmp.2_Intron	NM_017602	NP_060072	Q96G74	OTUD5_HUMAN	Homo sapiens OTU domain containing 5 (OTUD5), transcript variant 1, mRNA.	157	Gly-rich.				negative regulation of type I interferon production		cysteine-type peptidase activity			endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						CGCGCCAACCCCGGGAGCTTG	0.716000														2			6		0	0	1	0	0
MSI2	124540	broad.mit.edu	37	17	55729465	55729465	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr17:55729465C>T	uc002iuz.1	+	10	906	c.733C>T	c.(733-735)Cca>Tca	p.P245S	MSI2_uc010wnm.1_Missense_Mutation_p.P223S	NM_138962	NP_620412	Q96DH6	MSI2H_HUMAN	Homo sapiens musashi homolog 2 (Drosophila) (MSI2), transcript variant 1, mRNA.	245						cytoplasm	RNA binding|nucleotide binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		ACCAGGCTTCCCAGCAGCGGC	0.637000			T	HOXA9	CML									27			16		0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88962723	88962723	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr7:88962723G>A	uc011khi.2	+	3	965	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	Homo sapiens zinc finger protein 804B (ZNF804B), mRNA.	143						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GGTAGCCATAGAAAAGCAACT	0.378000										HNSCC(36;0.09)				19			7		0	0	1	0	0
STXBP4	252983	broad.mit.edu	37	17	53084916	53084916	+	Silent	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr17:53084916C>T	uc002iuf.1	+	7	831	c.624C>T	c.(622-624)tcC>tcT	p.S208S	STXBP4_uc010dcc.1_Silent_p.S133S|STXBP4_uc010dcd.1_Silent_p.S208S	NM_178509	NP_848604	Q6ZWJ1	STXB4_HUMAN	Homo sapiens syntaxin binding protein 4 (STXBP4), mRNA.	208						cytoplasm	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						AAAAGATCTCCCTAAATCCCT	0.363000														252			142		0	0	1	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69096965	69096965	+	Silent	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr4:69096965C>T	uc003hdw.4	-	6	778	c.642G>A	c.(640-642)ctG>ctA	p.L214L		NM_182502	NP_872308	Q86T26	TM11B_HUMAN	Homo sapiens transmembrane protease, serine 11B (TMPRSS11B), mRNA.	214	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						TGCTGCTGATCAGAGAGGCTC	0.468000														12			6		0	0	1	0	0
HNRNPA0	10949	broad.mit.edu	37	5	137089423	137089423	+	Silent	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr5:137089423C>T	uc003lbt.3	-	0	617	c.333G>A	c.(331-333)gaG>gaA	p.E111E	MYOT_uc011cye.2_Intron	NM_006805	NP_006796	Q13151	ROA0_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein A0 (HNRNPA0), mRNA.	111	RRM 2.				nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|nucleotide binding			large_intestine(1)|lung(2)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCAGGTCGCCCTCAGCCACGT	0.607000														43			37		0	0	1	0	0
VRK3	51231	broad.mit.edu	37	19	50482401	50482401	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr19:50482401C>T	uc002prg.2	-	13	1473	c.1375G>A	c.(1375-1377)Gat>Aat	p.D459N	VRK3_uc002prh.1_Missense_Mutation_p.D459N|VRK3_uc002pri.1_Missense_Mutation_p.D409N|VRK3_uc010ens.2_Missense_Mutation_p.D459N|VRK3_uc010ybl.1_Missense_Mutation_p.D409N|VRK3_uc010ybm.1_Missense_Mutation_p.D228N	NM_016440	NP_057524	Q8IV63	VRK3_HUMAN	Homo sapiens vaccinia related kinase 3 (VRK3), transcript variant 1, mRNA.	459						nucleus	ATP binding|protein kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		ACACGCAGATCCTGCAGCAAA	0.567000														25			8		0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	121037467	121037467	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr11:121037467G>A	uc010rzo.2	+	16	5564	c.5564G>A	c.(5563-5565)gGg>gAg	p.G1855E		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	1855	ZP.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AACACCAAAGGGAATTGTGGA	0.493000														23			11		0	0	1	0	0
FAM83G	644815	broad.mit.edu	37	17	18882890	18882890	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr17:18882890C>T	uc002guw.3	-	3	954	c.787G>A	c.(787-789)Gga>Aga	p.G263R	SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN	Homo sapiens family with sequence similarity 83, member G (FAM83G), mRNA.	263										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						GCCCGGTCTCCATCCACAAAC	0.577000														21			15		0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54905837	54905837	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr12:54905837G>A	uc001sgc.4	+	8	968	c.889G>A	c.(889-891)Gat>Aat	p.D297N	NCKAP1L_uc010sox.2_5'UTR|NCKAP1L_uc010soy.2_Missense_Mutation_p.D247N	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	297					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TATCCGTGAGGATGTGCTGCA	0.502000														32			18		0	0	1	0	0
PCSK7	9159	broad.mit.edu	37	11	117094835	117094835	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr11:117094835T>A	uc001pqr.3	-	7	1214	c.1013A>T	c.(1012-1014)aAc>aTc	p.N338I		NM_004716	NP_004707	Q16549	PCSK7_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 7 (PCSK7), mRNA.	338	Catalytic.				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		GCCATCGTAGTTGCAGTTGTC	0.547000			T	IGH@	MLCLS									24			23		0	0	1	0	0
BRAT1	221927	broad.mit.edu	37	7	2583247	2583247	+	Silent	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr7:2583247C>T	uc003smi.3	-	4	1068	c.780G>A	c.(778-780)gtG>gtA	p.V260V	BRAT1_uc003smh.4_5'Flank|BRAT1_uc021zyz.1_Silent_p.V85V|BRAT1_uc003smj.2_Silent_p.V260V	NM_152743	NP_689956	Q6PJG6	BRAT1_HUMAN	Homo sapiens BRCA1-associated ATM activator 1 (BRAT1), mRNA.	260					response to ionizing radiation	nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						GAAGCAGGTCCACGAACGAGT	0.682000														60			30		0	0	1	0	0
CLRN1	7401	broad.mit.edu	37	3	150690481	150690481	+	Silent	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr3:150690481C>T	uc021xfs.1	-	0	306	c.15G>A	c.(13-15)caG>caA	p.Q5Q	CLRN1-AS1_uc011bny.1_Intron|CLRN1-AS1_uc003eyl.2_Non-coding_Transcript|CLRN1_uc003eyk.1_Silent_p.Q5Q|CLRN1_uc021xft.1_Non-coding_Transcript|CLRN1_uc021xfu.1_Non-coding_Transcript|CLRN1_uc021xfv.1_Silent_p.Q5Q|CLRN1_uc021xfw.1_Non-coding_Transcript	NM_001195794	NP_001182723	P58418	CLRN1_HUMAN	Homo sapiens clarin 1 (CLRN1), transcript variant 5, mRNA.	5					equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane		p.Q5E(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TGATTTTCTTCTGTTGGCTTG	0.493000														17			11		0	0	1	0	0
NPHP1	4867	broad.mit.edu	37	2	110927431	110927431	+	Silent	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr2:110927431G>A	uc002tfn.4	-	4	568	c.474C>T	c.(472-474)atC>atT	p.I158I	NPHP1_uc002tfm.4_Silent_p.I158I|NPHP1_uc002tfl.4_Silent_p.I158I|NPHP1_uc002tfo.4_Silent_p.I96I|NPHP1_uc010ywx.2_Silent_p.I158I|NPHP1_uc010fjv.1_Silent_p.I158I	NM_207181	NP_997064	O15259	NPHP1_HUMAN	Homo sapiens nephronophthisis 1 (juvenile) (NPHP1), transcript variant 2, mRNA.	158	SH3.				actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity	p.Y157C(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						CTCCAACAGCGATGTATTCTT	0.428000														35			29		0	0	1	0	0
BBS7	55212	broad.mit.edu	37	4	122770018	122770018	+	Silent	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr4:122770018G>A	uc003ied.3	-	8	1099	c.915C>T	c.(913-915)atC>atT	p.I305I	BBS7_uc003iee.2_Silent_p.I305I	NM_176824	NP_789794	Q8IWZ6	BBS7_HUMAN	Homo sapiens Bardet-Biedl syndrome 7 (BBS7), transcript variant 1, mRNA.	305					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding	p.I305I(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TGGACACCACGATTTCATCAT	0.328000									Bardet-Biedl syndrome					40			26		0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130831830	130831830	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr2:130831830C>T	uc010fmh.2	-	16	3615	c.3215G>A	c.(3214-3216)cGc>cAc	p.R1072H		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	1072	Actin-like.					cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CAAGCATTTGCGGTGGACAAT	0.502000														71			38		0	0	1	0	0
DOCK5	80005	broad.mit.edu	37	8	26227663	26227663	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr8:26227663G>A	uc003xeu.3	+	9	1407	c.1078G>A	c.(1078-1080)Gga>Aga	p.G360R	DOCK5_uc003xek.3_Missense_Mutation_p.G361R|DOCK5_uc011laf.2_Missense_Mutation_p.G370R|DOCK5_uc022atb.1_Non-coding_Transcript	NM_002717	NP_002708	Q9H7D0	DOCK5_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B, alpha (PPP2R2A), transcript variant 1, mRNA.	412						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TGTCATGACTGGATCTTACAA	0.373000														4			9		0	0	1	0	0
FAM47B	170062	broad.mit.edu	37	X	34960954	34960954	+	Silent	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chrX:34960954G>A	uc004ddi.2	+	0	42	c.6G>A	c.(4-6)ggG>ggA	p.G2G		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA.	2										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CCACCATGGGGGACCGGAGGC	0.627000														7			6		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152281546	152281546	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr1:152281546G>A	uc001ezu.1	-	2	5852	c.5816C>T	c.(5815-5817)tCc>tTc	p.S1939F		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1939	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)			ATGGTTTCTGGAAGCAGACCC	0.577000									Ichthyosis					140			85		0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45262037	45262037	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr5:45262037C>A	uc003jok.3	-	7	2684	c.2659G>T	c.(2659-2661)Gct>Tct	p.A887S		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	887						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AAATTTGAAGCAAATCGTGGC	0.438000														68			20		1.50039e-11	1.52561e-11	1	1	0
GCNT1	2650	broad.mit.edu	37	9	79118393	79118394	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr9:79118393_79118394GG>AA	uc022bif.1	+	0	1096_1097	c.1096_1097GG>AA	c.(1096-1098)ggt>AAt	p.G366N	GCNT1_uc010mpf.3_Missense_Mutation_p.G366N|GCNT1_uc010mpg.3_Missense_Mutation_p.G366N|GCNT1_uc010mph.3_Missense_Mutation_p.G366N|GCNT1_uc004akf.4_Missense_Mutation_p.G366N|GCNT1_uc010mpi.3_Missense_Mutation_p.G366N|GCNT1_uc004akh.4_Missense_Mutation_p.G366N	NM_001490	NP_001481	Q02742	GCNT1_HUMAN	Homo sapiens glucosaminyl (N-acetyl) transferase 1, core 2 (GCNT1), transcript variant 2, mRNA.	366	Catalytic (By similarity).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						TGTTTCCAAGGGTGCTCCCTAC	0.550000														25			21		0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26692987	26692987	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr22:26692987C>T	uc003acb.3	+	3	1299	c.1103C>T	c.(1102-1104)tCc>tTc	p.S368F	SEZ6L_uc003acd.3_Missense_Mutation_p.S368F|SEZ6L_uc011akd.2_Missense_Mutation_p.S368F|SEZ6L_uc003ace.3_Missense_Mutation_p.S368F|SEZ6L_uc011akc.2_Missense_Mutation_p.S368F|SEZ6L_uc003acc.3_Missense_Mutation_p.S368F|SEZ6L_uc003acf.1_Missense_Mutation_p.S141F|SEZ6L_uc010gvc.1_Missense_Mutation_p.S141F	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	368	CUB 1.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						AACACCATCTCCGTCTACTTC	0.617000														15			6		0	0	1	0	0
ZNF569	148266	broad.mit.edu	37	19	37903914	37903914	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr19:37903914G>A	uc002ogj.3	-	8	2650	c.1718C>T	c.(1717-1719)cCt>cTt	p.P573L	ZNF569_uc002ogh.3_Missense_Mutation_p.P390L|ZNF569_uc002ogi.3_Missense_Mutation_p.P549L	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	Homo sapiens zinc finger protein 569 (ZNF569), mRNA.	549					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACATTCATAAGGCTTTTCCCC	0.388000														33			22		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13729599	13729599	+	Silent	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr5:13729599C>T	uc003jfd.2	-	68	11874	c.11832G>A	c.(11830-11832)ctG>ctA	p.L3944L	DNAH5_uc003jfc.2_Silent_p.L112L	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3944					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCACCAAATTCAGCCATGTTA	0.373000									Kartagener syndrome					27			21		0	0	1	0	0
OR10P1	121130	broad.mit.edu	37	12	56031545	56031545	+	Silent	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr12:56031545C>T	uc010spq.2	+	0	870	c.870C>T	c.(868-870)atC>atT	p.I290I		NM_206899	NP_996782	Q8NGE3	O10P1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily P, member 1 (OR10P1), mRNA.	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						ACCCCATCATCTACACCCTTC	0.592000														36			19		0	0	1	0	0
C16orf59	80178	broad.mit.edu	37	16	2511174	2511175	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr16:2511174_2511175CC>TT	uc002cqh.3	+	3	585_586	c.554_555CC>TT	c.(553-555)gcc>gTT	p.A185V	C16orf59_uc002cqg.2_Missense_Mutation_p.A18V|C16orf59_uc002cqi.3_Missense_Mutation_p.A18V|C16orf59_uc010uwb.2_Missense_Mutation_p.A18V	NM_025108	NP_079384	Q7L2K0	CP059_HUMAN	Homo sapiens chromosome 16 open reading frame 59 (C16orf59), mRNA.	185										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				CAGCAAATGGCCCCATCCGCTG	0.663000														9			7		0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554400	140554400	+	Silent	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr5:140554400C>T	uc003lit.3	+	0	2158	c.1984C>T	c.(1984-1986)Ctg>Ttg	p.L662L	PCDHB8_uc011dai.2_5'Flank	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	662	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCACGTGCTCCTGGTGGACGG	0.706000														381			28		0	0	1	0	0
CPS1	1373	broad.mit.edu	37	2	211515115	211515115	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr2:211515115G>A	uc010fur.3	+	28	3533	c.3451G>A	c.(3451-3453)Gag>Aag	p.E1151K	CPS1_uc002vee.4_Missense_Mutation_p.E1145K|CPS1_uc010fus.3_Missense_Mutation_p.E694K	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	1145	ATP-grasp 2.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GGTATTCTCTGAGGATGAGAT	0.393000														31			21		0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13364912	13364912	+	Silent	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr3:13364912C>T	uc003bxv.1	-	33	4748	c.4665G>A	c.(4663-4665)caG>caA	p.Q1555Q		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	1555					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CCATGATCCTCTGAGGGACGC	0.602000														44			30		0	0	1	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12844428	12844428	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr17:12844428A>G	uc002gnr.4	+	7	965	c.638A>G	c.(637-639)aAc>aGc	p.N213S	ARHGAP44_uc010vvk.2_Missense_Mutation_p.N213S|ARHGAP44_uc010vvl.2_Missense_Mutation_p.N213S|ARHGAP44_uc002gns.4_Missense_Mutation_p.N13S|ARHGAP44_uc010vvm.2_Missense_Mutation_p.N213S|ARHGAP44_uc010vvn.2_Non-coding_Transcript	NM_014859	NP_055674	Q17R89	RHG44_HUMAN	Homo sapiens Rho GTPase activating protein 44 (ARHGAP44), mRNA.	213	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						GACTATGCAAACTACTTTCAA	0.408000														21			10		0	0	1	0	0
ARNT	405	broad.mit.edu	37	1	150788882	150788882	+	Splice_Site	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr1:150788882C>T	uc001evr.2	-	19	2004	c.1803_splice	c.e19-1	p.R601_splice	ARNT_uc010pck.2_Splice_Site_p.R90_splice|ARNT_uc001evs.2_Splice_Site_p.R586_splice|ARNT_uc009wmd.2_Splice_Site_p.R586_splice|ARNT_uc009wmb.2_Splice_Site_p.R587_splice|ARNT_uc009wmc.2_Intron	NM_001668	NP_001659	P27540	ARNT_HUMAN	Homo sapiens aryl hydrocarbon receptor nuclear translocator (ARNT), transcript variant 1, mRNA.	601					positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGCCACTATTCCTAGGAGTGA	0.473000			T	ETV6	AML									15			13		0	0	1	0	0
SUSD4	55061	broad.mit.edu	37	1	223438036	223438036	+	Silent	SNP	C	G	G	rs144241025		TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr1:223438036C>G	uc001hnx.3	-	3	1294	c.660G>C	c.(658-660)gcG>gcC	p.A220A	SUSD4_uc001hny.4_Silent_p.A220A|SUSD4_uc010puw.2_Silent_p.A60A|SUSD4_uc001hnz.2_Silent_p.A220A|SUSD4_uc010pux.1_Silent_p.A149A	NM_017982	NP_060452	Q5VX71	SUSD4_HUMAN	Homo sapiens sushi domain containing 4 (SUSD4), transcript variant 1, mRNA.	220	Sushi 3.					integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		ACTCAAGATACGCAGACCCAT	0.488000														44			33		0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154396482	154396482	+	Silent	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr5:154396482C>T	uc010jih.1	+	0	3223	c.3063C>T	c.(3061-3063)atC>atT	p.I1021I		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	1021	Globular (By similarity).|Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTGAATATATCCCACCTAAGC	0.408000														56			26		0	0	1	0	0
C3orf56	285311	broad.mit.edu	37	3	126916061	126916061	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr3:126916061C>T	uc003eji.1	+	1	773	c.533C>T	c.(532-534)cCc>cTc	p.P178L						RecName: Full=Putative uncharacterized protein C3orf56;											breast(1)|endometrium(2)|kidney(1)|lung(5)	9				GBM - Glioblastoma multiforme(114;0.142)		AGAGGAGCTCCCTACTTGAAG	0.652000														31			12		0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123270690	123270690	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr4:123270690G>A	uc003ieh.3	+	76	13569	c.13524G>A	c.(13522-13524)atG>atA	p.M4508I	KIAA1109_uc003iem.3_Missense_Mutation_p.M864I	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	4508					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TTGATTACATGGGCTCAAGTA	0.368000														18			6		0	0	1	0	0
GPR148	344561	broad.mit.edu	37	2	131487206	131487206	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr2:131487206C>T	uc002trv.2	+	0	564	c.482C>T	c.(481-483)tCc>tTc	p.S161F		NM_207364	NP_997247	Q8TDV2	GP148_HUMAN	Homo sapiens G protein-coupled receptor 148 (GPR148), mRNA.	161						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)					TCCTTCATGTCCCATGGGGCT	0.607000														25			9		0	0	1	0	0
CYP4F12	66002	broad.mit.edu	37	19	15807303	15807303	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr19:15807303C>T	uc002nbl.3	+	11	1497	c.1378C>T	c.(1378-1380)Cct>Tct	p.P460S		NM_023944	NP_076433			Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					GGCTTTTATTCCTTTCTCCGC	0.557000														79			47		0	0	1	0	0
ACSM3	6296	broad.mit.edu	37	16	20787246	20787246	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr16:20787246C>T	uc010vba.2	+	1	356	c.281C>T	c.(280-282)tCt>tTt	p.S94F	ACSM3_uc002dhq.3_Missense_Mutation_p.S102F|ACSM3_uc002dhr.3_Missense_Mutation_p.S102F	NM_005622	NP_005613	Q53FZ2	ACSM3_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 3 (ACSM3), transcript variant 1, mRNA.	102					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						GAACTGGGATCTCTGTCCAGA	0.458000														51			31		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136548227	136548228	+	Splice_Site	DNP	CC	TT	TT			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr2:136548227_136548228CC>TT	uc002tuu.1	-	15	5346	c.5335_splice	c.e15+1	p.A1779_splice		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1779	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GCCCGTCGTACCTTTGAGGGCC	0.525000														12			9		0	0	1	0	0
OR5D13	390142	broad.mit.edu	37	11	55541690	55541690	+	Silent	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr11:55541690C>T	uc010ril.2	+	0	777	c.777C>T	c.(775-777)ttC>ttT	p.F259F		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				CTATCCTTTTCCTTTACTGTG	0.453000														30			19		0	0	1	0	0
NPC1	4864	broad.mit.edu	37	18	21136463	21136463	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr18:21136463G>A	uc002kum.4	-	7	1344	c.1070C>T	c.(1069-1071)tCg>tTg	p.S357L	NPC1_uc010xaz.2_Missense_Mutation_p.S158L|NPC1_uc010xba.1_Missense_Mutation_p.S202L	NM_000271	NP_000262	O15118	NPC1_HUMAN	Homo sapiens Niemann-Pick disease, type C1 (NPC1), mRNA.	357					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GAAGACCAGCGAGAAGAAAAT	0.587000														16			6		0	0	1	0	0
OR5T3	390154	broad.mit.edu	37	11	56019770	56019770	+	Missense_Mutation	SNP	C	T	T	rs117125830	byFrequency	TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr11:56019770C>T	uc010rjd.2	+	0	95	c.95C>T	c.(94-96)cCa>cTa	p.P32L		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 3 (OR5T3), mRNA.	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TACAGGAATCCACTGAAGAAC	0.353000														27			15		0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58385762	58385762	+	Silent	SNP	C	G	G			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr19:58385762C>G	uc002qqo.2	-	2	1268	c.996G>C	c.(994-996)tcG>tcC	p.S332S	ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.2_Intron	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN	Homo sapiens zinc finger protein 814 (ZNF814), mRNA.	332					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.S332S(4)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ATTTGCTAAACGATTTCCCAC	0.358000														0			2		0	0	1	0	0
PTGFRN	5738	broad.mit.edu	37	1	117484366	117484366	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr1:117484366C>T	uc001egv.1	+	1	216	c.79C>T	c.(79-81)Ccc>Tcc	p.P27S		NM_020440	NP_065173	Q9P2B2	FPRP_HUMAN	Homo sapiens prostaglandin F2 receptor negative regulator (PTGFRN), mRNA.	27	Ig-like C2-type 1.					Golgi apparatus|endoplasmic reticulum membrane|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		GGTGAGAGTCCCCACAGCGAC	0.527000														55			21		0	0	1	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138417772	138417772	+	Silent	SNP	C	G	G			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr7:138417772C>G	uc003vuf.3	-	15	1996	c.1758G>C	c.(1756-1758)ctG>ctC	p.L586L	ATP6V0A4_uc003vug.3_Silent_p.L586L|ATP6V0A4_uc003vuh.3_Silent_p.L586L	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA.	586					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GGTATCCAAACAGACACAGGA	0.428000														32			22		0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76782143	76782143	+	Silent	SNP	G	A	A	rs151052458	byFrequency	TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr6:76782143G>A	uc003pik.1	-	0	193	c.63C>T	c.(61-63)acC>acT	p.T21T		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	21					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				ACTTACCTTTGGTTCCTTGAA	0.308000														15			3		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92086673	92086673	+	Silent	SNP	A	G	G			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr11:92086673A>G	uc001pdj.4	+	0	1412	c.1395A>G	c.(1393-1395)gcA>gcG	p.A465A		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	465	Cadherin 4.				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)				TAGAAGATGCAAATGACCACA	0.433000										TCGA Ovarian(4;0.039)				13			9		0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	95994022	95994022	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr10:95994022C>T	uc001kjk.3	+	5	2801	c.2167C>T	c.(2167-2169)Ctc>Ttc	p.L723F	PLCE1_uc010qnx.2_Missense_Mutation_p.L723F|PLCE1_uc001kjm.3_Missense_Mutation_p.L415F	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	723	Ras-GEF.				Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CGCCTCCGGTCTCATGAAGCT	0.542000														20			20		0	0	1	0	0
SLFN13	146857	broad.mit.edu	37	17	33772265	33772265	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr17:33772265C>T	uc002hjk.1	-	0	765	c.435G>A	c.(433-435)atG>atA	p.M145I	SLFN13_uc010wch.1_Missense_Mutation_p.M145I|SLFN13_uc002hjl.2_Missense_Mutation_p.M145I|SLFN13_uc002hjm.2_Intron|SLFN13_uc010ctt.2_Intron	NM_144682	NP_653283	Q68D06	SLN13_HUMAN	Homo sapiens schlafen family member 13 (SLFN13), mRNA.	145						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GTCTTGAATTCATGTGAAGCA	0.403000														18			23		0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93822029	93822029	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr11:93822029G>A	uc001pep.2	+	11	2346	c.2189G>A	c.(2188-2190)gGg>gAg	p.G730E	AF086184_uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	730					copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CAGCGGTACGGGATGATAAGA	0.522000														26			18		0	0	1	0	0
KIF27	55582	broad.mit.edu	37	9	86482655	86482656	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr9:86482655_86482656CC>TT	uc004ana.3	-	12	3021_3022	c.2877_2878GG>AA	c.(2875-2880)aaggag>aaAAag	p.E960K	KIF27_uc010mpw.3_Missense_Mutation_p.E894K|KIF27_uc010mpx.3_Intron	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	Homo sapiens kinesin family member 27 (KIF27), mRNA.	960					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						AACAGAGCCTCCTTCTTAGAAA	0.401000														42			20		0	0	1	0	0
ATP9A	10079	broad.mit.edu	37	20	50226691	50226691	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr20:50226691G>A	uc002xwg.1	-	23	2585	c.2585C>T	c.(2584-2586)tCc>tTc	p.S862F	ATP9A_uc010gih.1_Missense_Mutation_p.S726F|ATP9A_uc002xwf.1_Missense_Mutation_p.S34F	NM_006045	NP_006036	O75110	ATP9A_HUMAN	Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA.	862					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.S861F(1)		breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GTAAAACACGGAGGAAAAGAC	0.398000														23			11		0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103327038	103327038	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr8:103327038G>A	uc003ykr.2	-	14	2283	c.1828C>T	c.(1828-1830)Cca>Tca	p.P610S	UBR5_uc003yks.2_Missense_Mutation_p.P610S	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	610					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GGAGATGGTGGAGGACCCATT	0.383000														21			12		0	0	1	0	0
LRRC45	201255	broad.mit.edu	37	17	79988658	79988658	+	Silent	SNP	A	C	C			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr17:79988658A>C	uc002kde.3	+	16	2230	c.1990A>C	c.(1990-1992)Agg>Cgg	p.R664R	RAC3_uc002kdf.3_5'Flank	NM_144999	NP_659436	Q96CN5	LRC45_HUMAN	Homo sapiens leucine rich repeat containing 45 (LRRC45), mRNA.	664						centrosome				lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GTCCCCCGTGAGGACCCTGAG	0.721000														3			6		0	0	1	0	0
FANCI	55215	broad.mit.edu	37	15	89843040	89843040	+	Silent	SNP	A	G	G			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr15:89843040A>G	uc010bnp.1	+	24	2736	c.2646A>G	c.(2644-2646)ctA>ctG	p.L882L	FANCI_uc002bnm.1_Silent_p.L822L|FANCI_uc002bnn.1_Non-coding_Transcript|FANCI_uc002bnp.1_Silent_p.L643L|FANCI_uc002bnq.1_Silent_p.L295L	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN	Homo sapiens Fanconi anemia, complementation group I (FANCI), transcript variant 1, mRNA.	882					DNA repair|cell cycle	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					GAGTCTTGCTATGGAGATACA	0.393000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					19			13		0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59217413	59217413	+	Silent	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr18:59217413G>A	uc010dps.1	+	9	2003	c.1851G>A	c.(1849-1851)ttG>ttA	p.L617L	CDH20_uc002lif.2_Silent_p.L611L	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	Homo sapiens cadherin 20, type 2 (CDH20), mRNA.	617					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				CAGTCAGTTTGAGCCGGGGCG	0.592000														30			25		0	0	1	0	0
SERPINB7	8710	broad.mit.edu	37	18	61471527	61471527	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr18:61471527G>A	uc002ljl.3	+	7	897	c.801G>A	c.(799-801)atG>atA	p.M267I	SERPINB7_uc002ljm.3_Missense_Mutation_p.M267I|SERPINB7_uc010xet.2_Missense_Mutation_p.M250I|SERPINB7_uc010dqg.3_Missense_Mutation_p.M267I	NM_001040147	NP_003775	O75635	SPB7_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA.	267					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				CAAGGCGAATGACCTCTAAGT	0.333000														23			18		0	0	1	0	0
FHDC1	85462	broad.mit.edu	37	4	153896105	153896105	+	Silent	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr4:153896105C>T	uc003inf.2	+	10	1737	c.1662C>T	c.(1660-1662)ttC>ttT	p.F554F		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.	554					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					TGCTGACCTTCTTGGAGAGCT	0.716000														18			14		0	0	1	0	0
NCOR2	9612	broad.mit.edu	37	12	124915283	124915283	+	Silent	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr12:124915283C>T	uc021rga.1	-	8	1050	c.933G>A	c.(931-933)aaG>aaA	p.K311K	NCOR2_uc021rgb.1_Silent_p.K311K|NCOR2_uc010tbb.2_Silent_p.K311K|NCOR2_uc010tbc.2_Silent_p.K311K|NCOR2_uc021rgc.1_Silent_p.K311K|NCOR2_uc010tba.2_Silent_p.K311K|NCOR2_uc001ugj.1_Silent_p.K311K|NCOR2_uc001ugk.1_Silent_p.K311K	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	311	Interaction with SIN3A/B (By similarity).				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCTCCACCTTCTTCTCCCAGG	0.642000														62			43		0	0	1	0	0
OR51A7	119687	broad.mit.edu	37	11	4928960	4928960	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr11:4928960G>A	uc010qyq.2	+	0	361	c.361G>A	c.(361-363)Gac>Aac	p.D121N		NM_001004749	NP_001004749	Q8NH64	O51A7_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 7 (OR51A7), mRNA.	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TATGTCTTTGGACCGCTTTCT	0.403000														41			27		0	0	1	0	0
GCM1	8521	broad.mit.edu	37	6	53010368	53010368	+	Silent	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr6:53010368C>T	uc003pbp.3	-	1	272	c.63G>A	c.(61-63)gtG>gtA	p.V21V	GCM1_uc010jzr.2_Silent_p.V21V	NM_003643	NP_003634	Q9NP62	GCM1_HUMAN	Homo sapiens glial cells missing homolog 1 (Drosophila) (GCM1), mRNA.	21						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					GTGGCAGTTTCACATCATTAA	0.418000														28			26		0	0	1	0	0
ICAM1	3383	broad.mit.edu	37	19	10385469	10385469	+	Silent	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr19:10385469C>T	uc002mnq.2	+	1	415	c.96C>T	c.(94-96)tcC>tcT	p.S32S	ICAM1_uc010xle.1_Intron	NM_000201	NP_000192	P05362	ICAM1_HUMAN	Homo sapiens intercellular adhesion molecule 1 (ICAM1), mRNA.	32					T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	CATCTGTGTCCCCCTCAAAAG	0.572000														32			13		0	0	1	0	0
CFHR2	3080	broad.mit.edu	37	1	196918617	196918617	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr1:196918617G>A	uc001gtq.1	+	1	168	c.91G>A	c.(91-93)Gga>Aga	p.G31R	CFHR2_uc001gtr.1_Intron	NM_005666	NP_005657	P36980	FHR2_HUMAN	Homo sapiens complement factor H-related 2 (CFHR2), mRNA.	31	Sushi 1.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						AATAAACCATGGAATTCTATA	0.294000														19			13		0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160047512	160047512	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr5:160047512C>T	uc003lym.1	-	14	3105	c.2258G>A	c.(2257-2259)gGc>gAc	p.G753D	ATP10B_uc010jit.1_Missense_Mutation_p.G70D|ATP10B_uc003lyn.3_Missense_Mutation_p.G311D	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	753					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAGGCAGGTGCCCTGGGGCAG	0.612000														21			10		0	0	1	0	0
PACSIN3	29763	broad.mit.edu	37	11	47200523	47200523	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr11:47200523G>A	uc001ndw.3	-	8	1302	c.959C>T	c.(958-960)cCt>cTt	p.P320L	ARFGAP2_uc001ndt.3_5'Flank|ARFGAP2_uc010rhb.2_5'Flank|ARFGAP2_uc001ndu.3_5'Flank|ARFGAP2_uc010rhc.2_5'Flank|ARFGAP2_uc010rhd.2_5'Flank|PACSIN3_uc001ndy.3_Missense_Mutation_p.P320L|PACSIN3_uc001ndx.3_Missense_Mutation_p.P320L	NM_001184975	NP_057307	Q9UKS6	PACN3_HUMAN	Homo sapiens protein kinase C and casein kinase substrate in neurons 3 (PACSIN3), transcript variant 1, mRNA.	320					endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis	cytoplasm|plasma membrane	cytoskeletal protein binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						AACCTCATCAGGGCTCCGGCC	0.627000														51			30		0	0	1	0	0
LMAN2	10960	broad.mit.edu	37	5	176759164	176759164	+	Silent	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr5:176759164G>A	uc003mge.3	-	7	1231	c.994C>T	c.(994-996)Ctg>Ttg	p.L332L		NM_006816	NP_006807	Q12907	LMAN2_HUMAN	Homo sapiens lectin, mannose-binding 2 (LMAN2), mRNA.	332					protein transport	ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	metal ion binding|sugar binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACGATGCCCAGGAGAGCGCAC	0.682000														16			19		0	0	1	0	0
ANXA4	307	broad.mit.edu	37	2	70052642	70052642	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr2:70052642G>A	uc010yqo.2	+	12	1223	c.709G>A	c.(709-711)Gat>Aat	p.D237N	ANXA4_uc002sfr.4_Missense_Mutation_p.D321N|ANXA4_uc002sfs.4_Missense_Mutation_p.D299N	NM_001153	NP_001144	P09525	ANXA4_HUMAN	Homo sapiens annexin A4 (ANXA4), mRNA.	319					anti-apoptosis|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11						TGGAGGAGATGATTAAAATAA	0.343000														15			14		0	0	1	0	0
INTS6	26512	broad.mit.edu	37	13	51952464	51952464	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr13:51952464G>A	uc001vfk.3	-	11	2127	c.1513C>T	c.(1513-1515)Ctc>Ttc	p.L505F	INTS6_uc001vfi.3_Missense_Mutation_p.L189F|INTS6_uc001vfj.3_Missense_Mutation_p.L492F|INTS6_uc001vfl.3_Missense_Mutation_p.L327F	NM_012141	NP_001035026	Q9UL03	INT6_HUMAN	Homo sapiens integrator complex subunit 6 (INTS6), transcript variant 1, mRNA.	505					snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		ATTCCCTGGAGGAGTTGTTGA	0.408000														46			29		0	0	1	0	0
UBP1	7342	broad.mit.edu	37	3	33438579	33438579	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr3:33438579C>T	uc003cfq.4	-	11	1759	c.1229G>A	c.(1228-1230)gGt>gAt	p.G410D	FBXL2_uc011axr.1_Intron|FBXL2_uc011axq.1_Intron|UBP1_uc003cfr.4_Missense_Mutation_p.G374D|UBP1_uc010hga.3_Missense_Mutation_p.G410D	NM_014517	NP_055332	Q9NZI7	UBIP1_HUMAN	Homo sapiens upstream binding protein 1 (LBP-1a) (UBP1), transcript variant 1, mRNA.	410					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						ATCGGCTGCACCACAAATTTG	0.363000														27			8		0	0	1	0	0
FOXK1	221937	broad.mit.edu	37	7	4722446	4722446	+	Silent	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr7:4722446C>T	uc003snc.1	+	0	517	c.507C>T	c.(505-507)ttC>ttT	p.F169F	FOXK1_uc003sna.1_Intron|FOXK1_uc003snb.1_Silent_p.F169F	NM_001037165	NP_001032242	P85037	FOXK1_HUMAN	Homo sapiens forkhead box K1 (FOXK1), mRNA.	169	FHA.				cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		ACGGCGTCTTCGTGGACGGGG	0.721000														4			6		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21826358	21826358	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr7:21826358G>A	uc003svc.3	+	59	9766	c.9735G>A	c.(9733-9735)tgG>tgA	p.W3245*		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	3245	Stalk (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.W3245fs*6(2)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ACCGAAGTTGGAAAGCAGCTA	0.478000									Kartagener syndrome					67			50		0	0	1	0	0
OR4N2	390429	broad.mit.edu	37	14	20296445	20296445	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr14:20296445C>T	uc010tkv.2	+	0	838	c.838C>T	c.(838-840)Cct>Tct	p.P280S		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA.	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGTGATTTTTCCTTTGTTGAA	0.438000														32			16		0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1259380	1259380	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr16:1259380G>A	uc002cks.3	+	16	3960	c.3712G>A	c.(3712-3714)Gat>Aat	p.D1238N	CACNA1H_uc002ckt.3_Missense_Mutation_p.D1238N|CACNA1H_uc002cku.3_5'Flank|CACNA1H_uc010brj.3_5'Flank|CACNA1H_uc002ckv.3_5'Flank	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	1238					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CCACCGTGAGGATGCAGCCGA	0.701000														38			14		0	0	1	0	0
C11orf82	220042	broad.mit.edu	37	11	82645000	82645000	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr11:82645000C>T	uc001ozt.3	+	5	2864	c.2620C>T	c.(2620-2622)Cct>Tct	p.P874S	C11orf82_uc010rsr.2_Missense_Mutation_p.P573S|C11orf82_uc010rss.2_Missense_Mutation_p.P573S|C11orf82_uc009yvd.2_Intron	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN	Homo sapiens chromosome 11 open reading frame 82 (C11orf82), mRNA.	874					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						AAAAATATTTCCTTCAGATAT	0.418000														31			21		0	0	1	0	0
TMEM55B	90809	broad.mit.edu	37	14	20928415	20928415	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr14:20928415G>A	uc001vxk.2	-	2	550	c.397C>T	c.(397-399)Ccc>Tcc	p.P133S	TMEM55B_uc001vxl.2_Missense_Mutation_p.P126S	NM_001100814	NP_001094284	Q86T03	TM55B_HUMAN	Homo sapiens transmembrane protein 55B (TMEM55B), transcript variant 1, mRNA.	126						integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)		CAGTTACAGGGGCATCGAACA	0.507000														19			9		0	0	1	0	0
RBM46	166863	broad.mit.edu	37	4	155718052	155718052	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr4:155718052C>T	uc003ioo.3	+	1	321	c.148C>T	c.(148-150)Cca>Tca	p.P50S	RBM46_uc011cim.1_Missense_Mutation_p.P50S|RBM46_uc003iop.1_Missense_Mutation_p.P50S	NM_144979	NP_659416	Q8TBY0	RBM46_HUMAN	Homo sapiens RNA binding motif protein 46 (RBM46), mRNA.	50							RNA binding|nucleotide binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				CGGTCCTCCTCCAGGTGTGGA	0.388000														24			11		0	0	1	0	0
IGLL1	3543	broad.mit.edu	37	22	23915632	23915632	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr22:23915632G>A	uc002zxd.3	-	2	581	c.463C>T	c.(463-465)Ccc>Tcc	p.P155S	IGLL1_uc002zxe.3_3'UTR	NM_020070	NP_064455	P15814	IGLL1_HUMAN	Homo sapiens immunoglobulin lambda-like polypeptide 1 (IGLL1), transcript variant 1, mRNA.	155	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						TGGGTGATGGGGGTACCATCT	0.577000														84			29		0	0	1	0	0
FMO2	2327	broad.mit.edu	37	1	171173094	171173094	+	Missense_Mutation	SNP	C	T	T	rs145420492		TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr1:171173094C>T	uc001ghk.1	+	5	835	c.718C>T	c.(718-720)Cgt>Tgt	p.R240C	FMO2_uc010pmd.1_Missense_Mutation_p.R20C	NM_001460	NP_001451	Q99518	FMO2_HUMAN	Homo sapiens flavin containing monooxygenase 2 (non-functional) (FMO2), mRNA.	240					NADPH oxidation|drug metabolic process|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	p.R240C(2)		endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CACCCGGTTTCGTTCTATGCT	0.488000														29			16		0	0	1	0	0
TTC21A	199223	broad.mit.edu	37	3	39171776	39171776	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr3:39171776G>A	uc003cjc.2	+	16	2444	c.2267G>A	c.(2266-2268)aGa>aAa	p.R756K	TTC21A_uc011ayx.1_Missense_Mutation_p.R708K|TTC21A_uc003cjd.2_Non-coding_Transcript|TTC21A_uc011ayy.2_5'Flank|TTC21A_uc003cjf.2_5'Flank	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN	Homo sapiens tetratricopeptide repeat domain 21A (TTC21A), transcript variant 2, mRNA.	756							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GAGGCCTATAGACAGAACCCA	0.587000														8			9		0	0	1	0	0
WDR78	79819	broad.mit.edu	37	1	67313308	67313308	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr1:67313308G>A	uc001dcx.3	-	7	1206	c.1150C>T	c.(1150-1152)Cat>Tat	p.H384Y	WDR78_uc001dcy.3_Missense_Mutation_p.H384Y|WDR78_uc009waw.3_Missense_Mutation_p.H130Y|WDR78_uc009wax.3_Non-coding_Transcript	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN	Homo sapiens WD repeat domain 78 (WDR78), transcript variant 1, mRNA.	384										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						TCATCTTCATGGATTTTTGCC	0.303000														19			5		0	0	1	0	0
CXorf48	54967	broad.mit.edu	37	X	134292195	134292195	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chrX:134292195A>G	uc004eyk.1	-	3	1122	c.466T>C	c.(466-468)Tcc>Ccc	p.S156P	CXorf48_uc004eyl.1_Missense_Mutation_p.S156P	NM_001031705	NP_001026875	Q8WUE5	CX048_HUMAN	Homo sapiens chromosome X open reading frame 48 (CXorf48), transcript variant 1, mRNA.	156										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5	Acute lymphoblastic leukemia(192;0.000127)					GGCTCAGTGGAATATTCAACT	0.413000														27			20		0	0	1	0	0
DMRT3	58524	broad.mit.edu	37	9	990888	990888	+	Silent	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr9:990888G>A	uc003zgw.1	+	1	1340	c.1302G>A	c.(1300-1302)cgG>cgA	p.R434R		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	Homo sapiens doublesex and mab-3 related transcription factor 3 (DMRT3), mRNA.	434					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		AAGACCCTCGGATTTCCATCC	0.542000														39			24		0	0	1	0	0
FAM109A	144717	broad.mit.edu	37	12	111801085	111801085	+	Silent	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr12:111801085G>A	uc001tsc.3	-	1	251	c.216C>T	c.(214-216)ttC>ttT	p.F72F	FAM109A_uc021rdy.1_Silent_p.F62F|FAM109A_uc001tsd.4_Silent_p.F49F|FAM109A_uc009zvu.3_Silent_p.F49F|FAM109A_uc021rdz.1_Silent_p.F49F	NM_144671	NP_653272	Q8N4B1	SESQ1_HUMAN	Homo sapiens family with sequence similarity 109, member A (FAM109A), transcript variant 2, mRNA.	49	PH.				endosome organization|receptor recycling|retrograde transport, endosome to Golgi	clathrin-coated vesicle|early endosome|recycling endosome|trans-Golgi network	protein homodimerization activity			breast(1)|endometrium(1)|lung(1)|ovary(1)	4						CAGCGTCCTCGAAGTAGAAGA	0.667000														23			11		0	0	1	0	0
ESRRB	2103	broad.mit.edu	37	14	76957962	76957962	+	Silent	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr14:76957962C>T	uc001xsr.3	+	7	1331	c.960C>T	c.(958-960)ctC>ctT	p.L320L	ESRRB_uc001xso.3_Non-coding_Transcript|ESRRB_uc001xsq.1_Silent_p.L320L	NM_004452	NP_004443	A2VDJ2	A2VDJ2_HUMAN	Homo sapiens estrogen-related receptor beta (ESRRB), mRNA.	320						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)		TGCTGGAGCTCTACCGGGCCA	0.612000														10			3		0	0	1	0	0
BIRC8	112401	broad.mit.edu	37	19	53793264	53793264	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr19:53793264C>T	uc002qbk.3	-	0	1612	c.364G>A	c.(364-366)Gga>Aga	p.G122R		NM_033341	NP_203127	Q96P09	BIRC8_HUMAN	Homo sapiens baculoviral IAP repeat containing 8 (BIRC8), mRNA.	122					apoptosis		zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		AAATCAAATCCCATTCGTATA	0.388000														78			35		0	0	1	0	0
MBD3L1	85509	broad.mit.edu	37	19	8953826	8953826	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr19:8953826G>A	uc002mko.2	+	0	558	c.472G>A	c.(472-474)Gaa>Aaa	p.E158K		NM_145208	NP_660209	Q8WWY6	MB3L1_HUMAN	Homo sapiens methyl-CpG binding domain protein 3-like 1 (MBD3L1), mRNA.	158					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	12						CAGGAAACAGGAAGGGAAAGT	0.498000														10			4		0	0	1	0	0
SLC12A3	6559	broad.mit.edu	37	16	56904075	56904075	+	Silent	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr16:56904075C>T	uc002ekd.4	+	4	698	c.669C>T	c.(667-669)ttC>ttT	p.F223F	SLC12A3_uc010ccm.3_Silent_p.F223F|SLC12A3_uc010ccn.3_Silent_p.F222F	NM_000339	NP_000330	P55017	S12A3_HUMAN	Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA.	223					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	GCCTCATTTTCGCTTTCGCCA	0.642000														55			20		0	0	1	0	0
ACSL5	51703	broad.mit.edu	37	10	114185150	114185150	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr10:114185150G>A	uc001kzu.3	+	17	1928	c.1816G>A	c.(1816-1818)Gga>Aga	p.G606R	ACSL5_uc001kzs.3_Missense_Mutation_p.G550R|ACSL5_uc001kzt.3_Missense_Mutation_p.G550R|ACSL5_uc009xxz.3_Missense_Mutation_p.G550R|ACSL5_uc010qrj.2_Missense_Mutation_p.G332R	NM_016234	NP_976314	Q9ULC5	ACSL5_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 5 (ACSL5), transcript variant 1, mRNA.	550					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		GCTGGCCCAAGGAGAATACAT	0.383000														9			14		0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121740317	121740317	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr2:121740317C>T	uc010flp.3	+	9	1574	c.1544C>T	c.(1543-1545)tCc>tTc	p.S515F	GLI2_uc002tmq.1_Missense_Mutation_p.S187F|GLI2_uc002tmr.1_Missense_Mutation_p.S170F|GLI2_uc002tmt.4_Missense_Mutation_p.S187F|GLI2_uc002tmu.4_Missense_Mutation_p.S170F|GLI2_uc002tmw.1_Missense_Mutation_p.S498F	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	515					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				AAGGCCTACTCCCGCCTGGAG	0.627000														19			17		0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128387252	128387252	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr2:128387252G>A	uc002top.3	+	33	4632	c.4579G>A	c.(4579-4581)Gac>Aac	p.D1527N	MYO7B_uc002tor.1_Missense_Mutation_p.D380N	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	1527	SH3 1.					apical plasma membrane|myosin complex	ATP binding|actin 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)		CAAGAAGGGGGACCTGTTGGT	0.612000														13			6		0	0	1	0	0
CWH43	80157	broad.mit.edu	37	4	48996765	48996765	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr4:48996765G>A	uc003gyv.3	+	4	823	c.641G>A	c.(640-642)gGa>gAa	p.G214E	CWH43_uc011bzl.2_Missense_Mutation_p.G187E	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA.	214					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						TGGGTTTTTGGAGAAGTCTCT	0.542000														47			36		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41450905	41450905	+	Splice_Site	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr21:41450905C>T	uc002yyq.1	-	26	4873	c.4421_splice	c.e26-1	p.E1474_splice	DSCAM_uc002yyr.1_Splice_Site	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1474					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AACTGGGGCTCTGGGGGAGAA	0.597000														22			5		0	0	1	0	0
PSD4	23550	broad.mit.edu	37	2	113955327	113955327	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr2:113955327G>A	uc002tjc.3	+	13	2644	c.2461G>A	c.(2461-2463)Gga>Aga	p.G821R	PSD4_uc002tjd.3_Splice_Site_p.G441_splice|PSD4_uc002tje.3_Splice_Site_p.G791_splice|PSD4_uc002tjf.3_Missense_Mutation_p.G442R|PSD4_uc002tjg.3_5'UTR|PSD4_uc010yxs.2_Splice_Site_p.G51_splice|PSD4_uc002tjh.3_5'Flank	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	821	PH.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTGGTAGCAGGGAGAAGACCA	0.617000														20			19		0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46859827	46859827	+	Silent	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr22:46859827G>A	uc003bhw.1	-	1	3960	c.3960C>T	c.(3958-3960)tcC>tcT	p.S1320S		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	1320	EGF-like 1; calcium-binding.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		ATCGCAGAACGGACACGCACT	0.662000														34			14		0	0	1	0	0
SLC35F1	222553	broad.mit.edu	37	6	118598702	118598702	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr6:118598702G>A	uc003pxx.4	+	5	1041	c.840G>A	c.(838-840)tgG>tgA	p.W280*		NM_001029858	NP_001025029	Q5T1Q4	S35F1_HUMAN	Homo sapiens solute carrier family 35, member F1 (SLC35F1), mRNA.	280					transport	integral to membrane		p.W280*(2)		breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		CCTGGGACTGGCAAATAGGTA	0.433000														47			3		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233394378	233394378	+	Silent	SNP	A	G	G			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr1:233394378A>G	uc001hvl.2	-	4	1465	c.1230T>C	c.(1228-1230)gcT>gcC	p.A410A	PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	410						integral to membrane		p.D409D(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TAGTGGGCTCAGCGTCAGACT	0.557000														61			48		0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55981468	55981468	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr4:55981468G>A	uc003has.3	-	3	771	c.469C>T	c.(469-471)Ctc>Ttc	p.L157F	KDR_uc003hat.1_Missense_Mutation_p.L157F|KDR_uc011bzx.2_Missense_Mutation_p.L157F	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	157	Ig-like C2-type 2.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	p.N156D(1)		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)	GACACGTTGAGATTTGAAATG	0.358000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				15			5		0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100383690	100383690	+	Silent	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr7:100383690G>A	uc003uwj.3	+	37	7068	c.6903G>A	c.(6901-6903)ggG>ggA	p.G2301G	ZAN_uc003uwk.3_Silent_p.G2301G|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kke.2_Silent_p.G352G	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	2302	VWFC 4.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TTCAGTGCGGGGACTTCCGAT	0.582000														49			34		0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47479668	47479668	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr18:47479668C>T	uc002leb.2	-	13	2002	c.1714G>A	c.(1714-1716)Gtg>Atg	p.V572M	MYO5B_uc021ukb.1_Missense_Mutation_p.V571M	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	572	Myosin head-like.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity	p.T571T(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TCTTCATACACCGTGTCTCTG	0.527000														33			18		0	0	1	0	0
CSN2	1447	broad.mit.edu	37	4	70824644	70824645	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr4:70824644_70824645CC>TT	uc003hes.4	-	3	139_140	c.126_127GG>AA	c.(124-129)gaggac>gaAAac	p.D43N	CSN2_uc003het.4_Missense_Mutation_p.D42N	NM_001891	NP_001882	P05814	CASB_HUMAN	Homo sapiens casein beta (CSN2), mRNA.	43					calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						TGCTGCTGGTCCTCATGTTTAA	0.252000														11			5		0	0	1	0	0
ELOVL3	83401	broad.mit.edu	37	10	103988837	103988837	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr10:103988837C>T	uc001kut.3	+	3	804	c.641C>T	c.(640-642)gCc>gTc	p.A214V		NM_152310	NP_689523	Q9HB03	ELOV3_HUMAN	Homo sapiens ELOVL fatty acid elongase 3 (ELOVL3), mRNA.	214					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16		Colorectal(252;0.207)		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)		TTTGTAGGAGCCATCGTCAGC	0.507000														1			13		0	0	1	0	0
PVRIG	79037	broad.mit.edu	37	7	99818389	99818390	+	Missense_Mutation	DNP	CC	TA	TA			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr7:99818389_99818390CC>TA	uc003uue.2	+	5	975_976	c.603_604CC>TA	c.(601-606)gcccct>gcTAct	p.P202T	GATS_uc010lgt.3_Intron|GATS_uc003uty.4_Intron|GATS_uc003utz.4_Intron|GATS_uc003uua.4_Intron|GATS_uc011kjl.2_Intron|GATS_uc010lgu.2_Intron|PVRIG_uc003uuf.1_Missense_Mutation_p.P202T	NM_024070	NP_076975	Q6DKI7	PVRIG_HUMAN	Homo sapiens poliovirus receptor related immunoglobulin domain containing (PVRIG), mRNA.	202						integral to membrane				breast(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)	11	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCAGCCCTGCCCCTAGGCTCCA	0.668000														31			18		0	0	1	0	0
LRRC32	2615	broad.mit.edu	37	11	76372238	76372238	+	Silent	SNP	C	T	T	rs142130044		TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr11:76372238C>T	uc001oxq.4	-	2	642	c.399G>A	c.(397-399)ggG>ggA	p.G133G	LRRC32_uc001oxr.4_Silent_p.G133G|LRRC32_uc010rsf.2_Silent_p.G133G	NM_005512	NP_005503	Q14392	LRC32_HUMAN	Homo sapiens leucine rich repeat containing 32 (LRRC32), transcript variant 1, mRNA.	133						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						ACAGGCTGTTCCCAGACAGGT	0.687000														29			19		0	0	1	0	0
SCUBE2	57758	broad.mit.edu	37	11	9052323	9052323	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr11:9052323G>A	uc001mhi.2	-	16	2227	c.2152C>T	c.(2152-2154)Cag>Tag	p.Q718*	SCUBE2_uc021qdk.1_Nonsense_Mutation_p.Q194*|SCUBE2_uc001mhj.2_Nonsense_Mutation_p.Q620*	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 2 (SCUBE2), transcript variant 1, mRNA.	746						extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		TCACAGTCCTGAAAGGAAGTA	0.537000														35			27		0	0	1	0	0
CFHR2	3080	broad.mit.edu	37	1	196927079	196927079	+	Silent	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr1:196927079C>T	uc001gtq.1	+	3	566	c.489C>T	c.(487-489)ttC>ttT	p.F163F	CFHR2_uc001gtr.1_Silent_p.F39F	NM_005666	NP_005657	P36980	FHR2_HUMAN	Homo sapiens complement factor H-related 2 (CFHR2), mRNA.	163	Sushi 3.					extracellular region		p.S162L(1)		large_intestine(2)|ovary(1)|skin(3)	6						TTACTTCATTCCTGTTGTCAG	0.378000														42			31		0	0	1	0	0
TPCN2	219931	broad.mit.edu	37	11	68837917	68837917	+	Silent	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr11:68837917C>T	uc001oos.2	+	8	965	c.849C>T	c.(847-849)tcC>tcT	p.S283S	TPCN2_uc009ysk.1_Non-coding_Transcript|TPCN2_uc001oor.2_Silent_p.S198S|TPCN2_uc010rqg.1_Silent_p.S283S|TPCN2_uc021qmo.1_Non-coding_Transcript	NM_139075	NP_620714	Q8NHX9	TPC2_HUMAN	Homo sapiens two pore segment channel 2 (TPCN2), mRNA.	283					cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CTGCGTATTCCAAGAACCGGG	0.463000														31			15		0	0	1	0	0
ACTRT1	139741	broad.mit.edu	37	X	127185882	127185882	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chrX:127185882T>G	uc004eum.3	-	0	501	c.304A>C	c.(304-306)Agc>Cgc	p.S102R		NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN	Homo sapiens actin-related protein T1 (ACTRT1), mRNA.	102						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						GGCTGTTGGCTGGGTTTTACT	0.473000														166			117		0	0	1	0	0
TLE1	7088	broad.mit.edu	37	9	84235405	84235405	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr9:84235405G>A	uc004alz.3	-	8	1133	c.692C>T	c.(691-693)tCc>tTc	p.S231F	TLE1_uc004aly.3_Missense_Mutation_p.S221F|TLE1_uc011lsr.2_Missense_Mutation_p.S221F|TLE1_uc004ama.1_Missense_Mutation_p.S221F|TLE1_uc011lss.1_Missense_Mutation_p.S147F	NM_005077	NP_005068	Q04724	TLE1_HUMAN	Homo sapiens transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila) (TLE1), mRNA.	221	CCN domain.				Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent		transcription factor binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						GATGTCATTGGAAAATTCAGG	0.378000														33			12		0	0	1	0	0
CCDC142	84865	broad.mit.edu	37	2	74709479	74709479	+	Silent	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr2:74709479G>A	uc002slr.3	-	0	879	c.486C>T	c.(484-486)ctC>ctT	p.L162L	TTC31_uc002sls.2_5'Flank|TTC31_uc002slt.2_5'Flank|TTC31_uc002slu.2_5'Flank|CCDC142_uc002slo.3_Non-coding_Transcript|CCDC142_uc002slq.3_Silent_p.L162L|CCDC142_uc002slp.2_Silent_p.L162L	NM_032779	NP_116168	Q17RM4	CC142_HUMAN	Homo sapiens coiled-coil domain containing 142 (CCDC142), mRNA.	162										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						GCAGCGGCTCGAGAGTCTCCC	0.716000														13			8		0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100368697	100368697	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr2:100368697G>A	uc002taf.3	-	7	1207	c.1063C>T	c.(1063-1065)Cca>Tca	p.P355S	AFF3_uc002tag.3_Missense_Mutation_p.P330S|AFF3_uc010fiq.1_Missense_Mutation_p.P330S|AFF3_uc010yvr.1_Missense_Mutation_p.P484S|AFF3_uc002tah.1_Missense_Mutation_p.P355S|AFF3_uc010fir.1_Missense_Mutation_p.P407S	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	330					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TTTGGAAATGGAAATTTGGTT	0.443000														19			13		0	0	1	0	0
COL6A5	256076	broad.mit.edu	37	3	130095343	130095343	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr3:130095343G>A	uc010htj.1	+	2	825	c.331G>A	c.(331-333)Gga>Aga	p.G111R	COL6A5_uc010hti.1_Non-coding_Transcript	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN	Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.	111	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CCTGCAGATAGGAAAGGCTCT	0.507000														3			3		0	0	1	0	0
TSHZ1	10194	broad.mit.edu	37	18	73000094	73000094	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr18:73000094C>T	uc002lly.3	+	1	3160	c.2597C>T	c.(2596-2598)aCc>aTc	p.T866I	TSHZ1_uc021uln.1_Missense_Mutation_p.T866I	NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	Homo sapiens teashirt zinc finger homeobox 1 (TSHZ1), mRNA.	911						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		TTGCGGGAGACCACAGAGGGC	0.612000														15			9		0	0	1	0	0
CDADC1	81602	broad.mit.edu	37	13	49830001	49830001	+	Silent	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr13:49830001C>T	uc001vcu.3	+	2	331	c.204C>T	c.(202-204)ccC>ccT	p.P68P	CDADC1_uc001vcs.2_Non-coding_Transcript|CDADC1_uc001vct.2_5'UTR|CDADC1_uc021rjm.1_Silent_p.P68P|CDADC1_uc010tgk.2_5'UTR|CDADC1_uc001vcv.3_Non-coding_Transcript	NM_030911	NP_112173	Q9BWV3	CDAC1_HUMAN	Homo sapiens cytidine and dCMP deaminase domain containing 1 (CDADC1), transcript variant 1, mRNA.	68							hydrolase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	16		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)		agcatggacccttaggagata	0.299000														29			16		0	0	1	0	0
ESM1	11082	broad.mit.edu	37	5	54277898	54277898	+	Silent	SNP	C	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr5:54277898C>A	uc003jpk.3	-	1	447	c.378G>T	c.(376-378)acG>acT	p.T126T	ESM1_uc010ivt.3_Intron	NM_007036	NP_008967	Q9NQ30	ESM1_HUMAN	Homo sapiens endothelial cell-specific molecule 1 (ESM1), transcript variant 1, mRNA.	126					angiogenesis|regulation of cell growth	extracellular region	growth factor activity|insulin-like growth factor binding			breast(1)|kidney(1)|large_intestine(4)|lung(4)	10		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	Lung(15;0.23)			GGCATTTTCCCGTCCCCCTGT	0.493000														67			9		3.07112e-06	3.09027e-06	1	1	0
OR10K1	391109	broad.mit.edu	37	1	158435393	158435393	+	Silent	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr1:158435393C>T	uc010pij.2	+	0	42	c.42C>T	c.(40-42)gtC>gtT	p.V14V		NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 1 (OR10K1), mRNA.	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V13V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					AGTTCGTCGTCCTCGGCTTCT	0.507000														16			16		0	0	1	0	0
SETD1A	9739	broad.mit.edu	37	16	30978284	30978284	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr16:30978284C>T	uc002ead.1	+	8	3271	c.2585C>T	c.(2584-2586)tCc>tTc	p.S862F		NM_014712	NP_055527	O15047	SET1A_HUMAN	Homo sapiens SET domain containing 1A (SETD1A), mRNA.	862					regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|chromosome|nuclear speck	RNA binding|histone-lysine N-methyltransferase activity|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						GGCCTGCTGTCCCTCGTGGAC	0.627000														6			4		0	0	1	0	0
PRLR	5618	broad.mit.edu	37	5	35065985	35065985	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr5:35065985G>A	uc003jjm.3	-	9	1634	c.1075C>T	c.(1075-1077)Ctt>Ttt	p.L359F	PRLR_uc003jjk.1_Intron|PRLR_uc003jjg.2_Intron|PRLR_uc003jjh.2_Intron|PRLR_uc003jji.2_Intron|PRLR_uc003jjj.2_Intron|PRLR_uc003jjl.4_Missense_Mutation_p.L258F|PRLR_uc021xxl.1_Intron	NM_000949	NP_000940	P16471	PRLR_HUMAN	Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA.	359					T cell activation|activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TCAGACAAAAGGGAAGGGCTG	0.502000														18			25		0	0	1	0	0
TSPAN10	83882	broad.mit.edu	37	17	79612587	79612587	+	Silent	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr17:79612587C>T	uc010die.3	+	1	712	c.606C>T	c.(604-606)ctC>ctT	p.L202L	TSPAN10_uc021ufc.1_Silent_p.L240L|TSPAN10_uc002kaw.2_Silent_p.L202L|TSPAN10_uc010did.2_Non-coding_Transcript	NM_031945	NP_114151	Q9H1Z9	TSN10_HUMAN	Homo sapiens tetraspanin 10 (TSPAN10), mRNA.	202						integral to membrane				ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			TGCGCTTCCTCCTCGACCAAG	0.672000														5			6		0	0	1	0	0
OLFM1	10439	broad.mit.edu	37	9	138011718	138011718	+	Silent	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr9:138011718C>T	uc010nar.3	+	5	1171	c.1152C>T	c.(1150-1152)ccC>ccT	p.P384P	OLFM1_uc004cfl.4_Silent_p.P366P|OLFM1_uc004cfn.4_Silent_p.P135P	NM_014279	NP_055094	Q99784	NOE1_HUMAN	Homo sapiens olfactomedin 1 (OLFM1), transcript variant 1, mRNA.	384	Olfactomedin-like.				nervous system development	endoplasmic reticulum lumen	protein binding	p.S383T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		GGCTGGACCCCGTGTCCCTGC	0.647000														24			11		0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107924123	107924123	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chrX:107924123G>A	uc022ccg.1	+	45	4226	c.4024G>A	c.(4024-4026)Gga>Aga	p.G1342R	COL4A5_uc004enz.1_Missense_Mutation_p.G1336R	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	1336	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						AGGCATGAAAGGACCCAGTGG	0.478000									Alport syndrome with Diffuse Leiomyomatosis					61			41		0	0	1	0	0
CLCA2	9635	broad.mit.edu	37	1	86921125	86921125	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr1:86921125T>G	uc001dlr.4	+	13	2909	c.2747T>G	c.(2746-2748)aTt>aGt	p.I916S		NM_006536	NP_006527	Q9UQC9	CLCA2_HUMAN	Homo sapiens chloride channel accessory 2 (CLCA2), mRNA.	916					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		ATAGGAATCATTTGCCTTATT	0.353000														65			48		0	0	1	0	0
ZDHHC6	64429	broad.mit.edu	37	10	114202024	114202024	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr10:114202024G>A	uc001kzv.3	-	3	869	c.445C>T	c.(445-447)Ctt>Ttt	p.L149F	ZDHHC6_uc001kzw.3_Missense_Mutation_p.L145F|ZDHHC6_uc009xya.1_Missense_Mutation_p.L149F	NM_022494	NP_071939	Q9H6R6	ZDHC6_HUMAN	Homo sapiens zinc finger, DHHC-type containing 6 (ZDHHC6), mRNA.	149						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Colorectal(252;0.198)		Epithelial(162;0.0291)|all cancers(201;0.117)		GGTGCTAAAAGGAGAAACAGT	0.378000														1			8		0	0	1	0	0
STAC	6769	broad.mit.edu	37	3	36485125	36485125	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr3:36485125G>A	uc003cgh.1	+	1	420	c.381G>A	c.(379-381)atG>atA	p.M127I	STAC_uc010hgd.1_Non-coding_Transcript|STAC_uc011aya.1_Missense_Mutation_p.M127I	NM_003149	NP_003140	Q99469	STAC_HUMAN	Homo sapiens SH3 and cysteine rich domain (STAC), mRNA.	127					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding	p.H126Y(1)		endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						GCAACCACATGATAGTGGGTA	0.572000														50			47		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140167369	140167370	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr5:140167369_140167370GG>AA	uc003lhb.2	+	0	1494_1495	c.1494_1495GG>AA	c.(1492-1497)cgggtg>cgAAtg	p.V499M	PCDHAC2_uc003lha.2_Missense_Mutation_p.V499M|PCDHAC2_uc003lgz.3_Missense_Mutation_p.V499M	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	513	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.K499K(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAACGGCGGGTGGGCGAGCG	0.673000														50			33		0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11098498	11098498	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr19:11098498C>T	uc010dxp.3	+	6	1376	c.1016C>T	c.(1015-1017)cCc>cTc	p.P339L	SMARCA4_uc010dxo.3_Missense_Mutation_p.P339L|SMARCA4_uc002mqf.4_Missense_Mutation_p.P339L|SMARCA4_uc002mqg.1_Missense_Mutation_p.P339L|SMARCA4_uc010dxq.3_Missense_Mutation_p.P339L|SMARCA4_uc010dxr.3_Missense_Mutation_p.P339L|SMARCA4_uc002mqj.4_Missense_Mutation_p.P339L|SMARCA4_uc010dxs.3_Missense_Mutation_p.P339L|SMARCA4_uc002mqe.2_Missense_Mutation_p.P339L	NM_001128844	NP_003063	P51532	SMCA4_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA.	339					chromatin remodeling|negative regulation of S phase of mitotic cell cycle|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nuclear chromatin	ATP binding|DNA binding|DNA-dependent ATPase activity|androgen receptor binding|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCGGCCCAGCCCGCGCCCATG	0.746000			"""F, N, Mis"""		NSCLC									5			3		0	0	1	0	0
P4HA3	283208	broad.mit.edu	37	11	73997285	73997285	+	Silent	SNP	G	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr11:73997285G>A	uc010rrj.2	-	5	964	c.921C>T	c.(919-921)acC>acT	p.T307T	P4HA3_uc001ouy.4_Non-coding_Transcript|P4HA3_uc001ouz.3_Silent_p.T307T			Q7Z4N8	P4HA3_HUMAN	Homo sapiens prolyl 4-hydroxylase, alpha polypeptide III (P4HA3), mRNA.	307						endoplasmic reticulum lumen	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					GGGAACCCAGGGTCTGACATA	0.557000														102			81		0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186670303	186670304	+	Frame_Shift_Ins	INS	-	A	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr2:186670303_186670304insA	uc002upl.3	+	16	16537_16538	c.16537_16538insA	c.(16537-16539)caafs	p.Q5513fs	FSIP2_uc002upm.3_Intron	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						ACACCTACCACAAAACACCTTT	0.376													---	43	---	---	20	---