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
PDILT	204474	broad.mit.edu	37	16	20380929	20380929	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:20380929G>A	uc002dhc.1	-	7	1224	c.1001C>T	c.(1000-1002)cCa>cTa	p.P334L		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA.	334					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TTGGACGGATGGGATATCGAC	0.468000														69			52		0	0	0.000781405	0	0
RABL3	285282	broad.mit.edu	37	3	120424951	120424951	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:120424951G>A	uc003edx.3	-	3	309	c.279C>T	c.(277-279)ttC>ttT	p.F93F		NM_173825	NP_776186	Q5HYI8	RABL3_HUMAN	Homo sapiens RAB, member of RAS oncogene family-like 3 (RABL3), mRNA.	93	Small GTPase-like.				small GTPase mediated signal transduction		GTP binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)	17				GBM - Glioblastoma multiforme(114;0.151)		AGTCGTGTACGAAAATAATAC	0.378000														33			22		0	0	0.00188189	0	0
LIM2	3982	broad.mit.edu	37	19	51883763	51883763	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:51883763G>A	uc002pwl.2	-	3	626	c.582C>T	c.(580-582)ttC>ttT	p.F194F	LIM2_uc002pwm.2_Silent_p.F152F	NM_030657	NP_085915	P55344	LMIP_HUMAN	Homo sapiens lens intrinsic membrane protein 2, 19kDa (LIM2), transcript variant 1, mRNA.	152					cell-cell junction assembly	cell junction|integral to membrane	structural constituent of eye lens	p.F194F(2)		endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)		CAGTACCTGCGAAGAACGTCA	0.617000														87			46		0	0	0.000781405	0	0
SERPINA7	6906	broad.mit.edu	37	X	105279279	105279279	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:105279279C>T	uc010npd.3	-	1	955	c.720G>A	c.(718-720)caG>caA	p.Q240Q	SERPINA7_uc004eme.2_Silent_p.Q240Q|SERPINA7_uc010npe.2_Silent_p.Q240Q	NM_000354	NP_000345	P05543	THBG_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 (SERPINA7), mRNA.	240					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	ATTGTTCCATCTGGTGCATCA	0.453000														7			19		0	0	0.00152264	0	0
OR2M3	127062	broad.mit.edu	37	1	248366844	248366844	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:248366844G>A	uc010pzg.2	+	0	475	c.475G>A	c.(475-477)Gat>Aat	p.D159N		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA.	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TGGAATTATTGATGTTGTAGC	0.463000														68			25		0	0	0.00047179	0	0
TJP2	9414	broad.mit.edu	37	9	71852825	71852826	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:71852825_71852826CC>TT	uc004ahe.3	+	14	2529_2530	c.2211_2212CC>TT	c.(2209-2214)ggcccc>ggTTcc	p.P738S	TJP2_uc011lrs.2_Missense_Mutation_p.P715S|TJP2_uc011lrt.1_Missense_Mutation_p.P715S|TJP2_uc004ahd.3_Missense_Mutation_p.P738S|TJP2_uc004ahf.3_Missense_Mutation_p.P738S|TJP2_uc011lru.2_Missense_Mutation_p.P742S|TJP2_uc011lrv.2_Missense_Mutation_p.P769S	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN	Homo sapiens tight junction protein 2 (zona occludens 2) (TJP2), transcript variant 1, mRNA.	738	Guanylate kinase-like.				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding	p.G737S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						TCTTATTCGGCCCCATAGCTGA	0.386000														32			13		0	0	6.4e-05	0	0
THADA	63892	broad.mit.edu	37	2	43519318	43519318	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:43519318G>A	uc002rsw.4	-	32	5214	c.4862C>T	c.(4861-4863)cCc>cTc	p.P1621L	THADA_uc010far.3_Missense_Mutation_p.P816L|THADA_uc002rsx.4_Missense_Mutation_p.P1621L|THADA_uc002rsy.4_Non-coding_Transcript	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN	Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.	1621							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CTCCGTCTGGGGAAGCCACTC	0.478000														228			122		0	0	0.000781405	0	0
STAT5B	6777	broad.mit.edu	37	17	40370242	40370242	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:40370242G>T	uc002hzh.3	-	8	1265	c.1096C>A	c.(1096-1098)Ccc>Acc	p.P366T	STAT5B_uc002hzi.3_Missense_Mutation_p.P366T	NM_012448	NP_036580	P51692	STA5B_HUMAN	Homo sapiens signal transducer and activator of transcription 5B (STAT5B), mRNA.	366					2-oxoglutarate metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	ACCTGGGGGGGGTTCATGTGC	0.572000														21			23		9.95505e-16	4.58739e-15	0.00229938	1	0
FCRL2	79368	broad.mit.edu	37	1	157738389	157738389	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:157738389C>T	uc001fre.2	-	4	757	c.698G>A	c.(697-699)gGa>gAa	p.G233E	FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Missense_Mutation_p.G233E|FCRL2_uc009wsp.2_Intron	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	Homo sapiens Fc receptor-like 2 (FCRL2), mRNA.	233	Ig-like C2-type 3.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	SH3/SH2 adaptor activity|receptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TGTGACATTTCCTGTACCCCC	0.542000														116			48		0	0	0.000781405	0	0
OR4N4	283694	broad.mit.edu	37	15	22382940	22382940	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:22382940C>T	uc001yuc.1	+	6	1449	c.468C>T	c.(466-468)tcC>tcT	p.S156S	abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc010tzv.2_Silent_p.S156S	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA.	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TTGTCCACTCCATTATCCAGG	0.532000														85			14		0	0	0.00121646	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870638	51870638	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:51870638G>A	uc002xwo.3	+	1	1528	c.641G>A	c.(640-642)aGa>aAa	p.R214K	TSHZ2_uc021wex.1_Missense_Mutation_p.R211K	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	214					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			GGGGCCAGCAGATTCCGATGC	0.562000														47			12		0	0	0.00136819	0	0
CIB2	10518	broad.mit.edu	37	15	78401717	78401717	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:78401717G>A	uc010ums.1	-	3	527	c.206C>T	c.(205-207)cCc>cTc	p.P69L	CIB2_uc002bdb.1_Missense_Mutation_p.P69L|CIB2_uc002bdc.1_Missense_Mutation_p.P26L	NM_006383	NP_006374	O75838	CIB2_HUMAN	Homo sapiens calcium and integrin binding family member 2 (CIB2), mRNA.	69	EF-hand 1.						calcium ion binding	p.P69P(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						TTCTTTGAAGGGATTCTCCTG	0.552000														31			29		0	0	0.000953801	0	0
BIRC6	57448	broad.mit.edu	37	2	32689721	32689721	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:32689721C>T	uc010ezu.3	+	24	5220	c.5086C>T	c.(5086-5088)Ccc>Tcc	p.P1696S		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	1696					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TGTTATTCCACCCACTCCAAA	0.488000														35			16		0	0	0.00074312	0	0
SPACA3	124912	broad.mit.edu	37	17	31323938	31323938	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:31323938G>A	uc002hhs.1	+	2	496	c.421G>A	c.(421-423)Ggg>Agg	p.G141R	SPACA3_uc010cte.1_Non-coding_Transcript	NM_173847	NP_776246	Q8IXA5	SACA3_HUMAN	Homo sapiens sperm acrosome associated 3 (SPACA3), mRNA.	141					cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding			breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			CACCAACAACGGGATCTTCCA	0.592000														73			33		0	0	0.000953801	0	0
NXF4	55999	broad.mit.edu	37	X	101818438	101818438	+	RNA	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:101818438G>A	uc004ejf.1	+	6		c.1028G>A								Homo sapiens nuclear RNA export factor 4 pseudogene (NXF4), non-coding RNA.											endometrium(2)|lung(8)	10						TCATTGAAAGGAATTTCCCTG	0.443000														5			17		0	0	0.00074312	0	0
MYCBP2	23077	broad.mit.edu	37	13	77635390	77635390	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr13:77635390C>T	uc021rks.1	-	75	13217	c.12950G>A	c.(12949-12951)gGt>gAt	p.G4317D	MYCBP2_uc010aev.3_Missense_Mutation_p.G3683D|MYCBP2_uc001vke.3_Missense_Mutation_p.G896D	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	4279					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TCTACCACAACCTTCATGAAG	0.363000														33			15		0	0	0.000308642	0	0
TFAP2A	7020	broad.mit.edu	37	6	10410440	10410440	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:10410440G>A	uc003myr.3	-	1	426	c.174C>T	c.(172-174)ttC>ttT	p.F58F	TFAP2A_uc003myq.3_Silent_p.F52F|TFAP2A_uc003mys.3_Intron|TFAP2A_uc011dih.2_Silent_p.F58F|TFAP2A_uc003myt.3_Silent_p.F54F|TFAP2A_uc003myu.1_Silent_p.F58F|TFAP2A_uc011dii.1_Silent_p.F54F|LOC100130275_uc003myw.3_5'Flank	NM_003220	NP_003211	P05549	AP2A_HUMAN	Homo sapiens transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) (TFAP2A), transcript variant 1, mRNA.	58	Gln/Pro-rich (transactivation domain).				ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	Golgi apparatus|centrosome|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				AGGGTGGGGGGAAGTATGGGG	0.662000														14			20		0	0	0.000375601	0	0
CSMD1	64478	broad.mit.edu	37	8	2800022	2800022	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr8:2800022C>T	uc022aqr.1	-	68	10897	c.10507G>A	c.(10507-10509)Ggg>Agg	p.G3503R	CSMD1_uc011kwj.2_Missense_Mutation_p.G2818R|CSMD1_uc010lrg.3_Missense_Mutation_p.G1395R	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	3504						integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AATGCAAACCCTGATAAAATT	0.438000														6			7		0	0	0.000157383	0	0
SEC14L5	9717	broad.mit.edu	37	16	5053556	5053556	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:5053556C>G	uc002cye.2	+	10	1464	c.1284C>G	c.(1282-1284)ttC>ttG	p.F428L		NM_014692	NP_055507	O43304	S14L5_HUMAN	Homo sapiens SEC14-like 5 (S. cerevisiae) (SEC14L5), mRNA.	428	CRAL-TRIO.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						CCCGAGTCTTCCCCGTGCTCT	0.652000														25			14		0	0	0.000566183	0	0
ANKRD45	339416	broad.mit.edu	37	1	173594003	173594003	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:173594003G>A	uc001gja.1	-	4	714	c.653C>T	c.(652-654)tCc>tTc	p.S218F		NM_198493	NP_940895	Q5TZF3	ANR45_HUMAN	Homo sapiens ankyrin repeat domain 45 (ANKRD45), mRNA.	234										NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						CTCATTAATGGAAGCTTCTGT	0.393000														51			18		0	0	0.00074312	0	0
UGT2B15	7366	broad.mit.edu	37	4	69519884	69519884	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:69519884G>A	uc021xow.1	-	4	1342	c.1184C>T	c.(1183-1185)cCc>cTc	p.P395L		NM_001076	NP_001067	P54855	UDB15_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA.	395					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										CGCAAACAAGGGAATGCCCAC	0.463000														74			16		0	0	0.00188189	0	0
IQCJ-SCHIP1	100505385	broad.mit.edu	37	3	159605541	159605541	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:159605541G>A	uc003fcq.2	+	7	1450	c.1269G>A	c.(1267-1269)gaG>gaA	p.E423E	IQCJ-SCHIP1_uc003fcr.2_Silent_p.E396E|IQCJ-SCHIP1_uc003fcs.2_Silent_p.E347E|IQCJ-SCHIP1_uc003fct.2_Silent_p.E334E|IQCJ-SCHIP1_uc021xgm.1_Silent_p.E115E|IQCJ-SCHIP1_uc010hvz.1_Silent_p.E307E|IQCJ-SCHIP1_uc003fcu.2_Silent_p.E104E	NM_001197113	NP_001184042	Q9P0W5	SCHI1_HUMAN	Homo sapiens IQCJ-SCHIP1 readthrough (IQCJ-SCHIP1), transcript variant 1, mRNA.	347						cytoplasm	identical protein binding|protein binding	p.E347D(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						CTACTGAAGAGGAGTCTGAAT	0.468000														114			89		0	0	0.000781405	0	0
HSD17B2	3294	broad.mit.edu	37	16	82131705	82131705	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:82131705G>A	uc002fgv.3	+	4	1000	c.828G>A	c.(826-828)tgG>tgA	p.W276*		NM_002153	NP_002144	P37059	DHB2_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 2 (HSD17B2), mRNA.	276					response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10					NADH(DB00157)	GTGACAAGTGGGAAAAGCTGG	0.537000														23			18		0	0	0.000958276	0	0
FCHSD2	9873	broad.mit.edu	37	11	72600882	72600882	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:72600882G>T	uc009ytl.3	-	10	1254	c.1033C>A	c.(1033-1035)Caa>Aaa	p.Q345K	FCHSD2_uc010rrg.2_Missense_Mutation_p.Q209K|FCHSD2_uc001oth.4_Missense_Mutation_p.Q289K|FCHSD2_uc001oti.2_Missense_Mutation_p.Q304K	NM_014824	NP_055639	O94868	FCSD2_HUMAN	Homo sapiens FCH and double SH3 domains 2 (FCHSD2), mRNA.	345							protein binding			endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			ACCCGTTGTTGGTGAACAATG	0.398000														405			12		0.000219431	0.00100175	0.000219431	1	0
UBA6	55236	broad.mit.edu	37	4	68543347	68543347	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:68543347G>A	uc003hdg.4	-	5	499	c.447C>T	c.(445-447)tcC>tcT	p.S149S	UBA6_uc003hdi.3_Silent_p.S149S|UBA6_uc003hdj.2_Silent_p.S149S	NM_018227	NP_060697	A0AVT1	UBA6_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 6 (UBA6), mRNA.	149					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						TATCTAAAAAGGAGAGATCTG	0.313000														30			19		0	0	0.000958276	0	0
KIR3DX1	90011	broad.mit.edu	37	19	55045054	55045054	+	RNA	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:55045054G>A	uc010yfa.1	+	2		c.280G>A			KIR3DX1_uc010yfb.1_Non-coding_Transcript|KIR3DX1_uc010yfc.1_Non-coding_Transcript|KIR3DX1_uc010yfd.1_Non-coding_Transcript					Homo sapiens killer cell immunoglobulin-like receptor, three domains, X1 (KIR3DX1), non-coding RNA.											endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		TTGTCATATGGACAATATTCC	0.547000														26			9		0	0	0.000274275	0	0
STAB2	55576	broad.mit.edu	37	12	104067779	104067779	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:104067779C>T	uc001tjw.3	+	22	2652	c.2466C>T	c.(2464-2466)ctC>ctT	p.L822L		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	822					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CCGGGAGACTCTGTGATAAGC	0.562000														40			20		0	0	0.00152264	0	0
FSHR	2492	broad.mit.edu	37	2	49210076	49210076	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:49210076G>A	uc002rww.3	-	7	753	c.643C>T	c.(643-645)Cac>Tac	p.H215Y	FSHR_uc010fbn.3_Missense_Mutation_p.H189Y|FSHR_uc002rwx.3_Missense_Mutation_p.H215Y	NM_000145	NP_000136	P23945	FSHR_HUMAN	Homo sapiens follicle stimulating hormone receptor (FSHR), transcript variant 1, mRNA.	215					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	GAGGCTCCGTGGAAAACATCA	0.418000									Gonadal Dysgenesis, 46 XX					18			12		0	0	0.00136819	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123330627	123330627	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:123330627C>T	uc004bkf.3	-	2	348	c.167G>A	c.(166-168)aGa>aAa	p.R56K	CDK5RAP2_uc004bkg.3_Missense_Mutation_p.R56K|CDK5RAP2_uc011lxw.2_5'UTR|CDK5RAP2_uc011lxx.2_Non-coding_Transcript|CDK5RAP2_uc011lxy.2_Non-coding_Transcript|CDK5RAP2_uc011lxz.2_5'UTR|CDK5RAP2_uc011lya.2_5'UTR|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.R56K	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 2 (CDK5RAP2), transcript variant 1, mRNA.	56					G2/M transition of mitotic cell cycle|brain development|centrosome organization|chromosome segregation|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	Golgi apparatus|cytosol|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						GTTCCGTGCTCTGGTGGGAGA	0.453000														83			67		0	0	0.000781405	0	0
RGS3	5998	broad.mit.edu	37	9	116260307	116260307	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:116260307C>T	uc004bhq.3	+	10	1053	c.844C>T	c.(844-846)Ccg>Tcg	p.P282S	RGS3_uc004bhr.3_Missense_Mutation_p.P170S|RGS3_uc004bhs.3_Missense_Mutation_p.P172S	NM_144488	NP_652759	P49796	RGS3_HUMAN	Homo sapiens regulator of G-protein signaling 3 (RGS3), transcript variant 6, mRNA.	282					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						CCTTCCAGACCCGCTGCTGAG	0.567000														22			9		0	0	0.000442599	0	0
DNASE2B	58511	broad.mit.edu	37	1	84880389	84880389	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:84880389G>A	uc001djt.1	+	5	957	c.924G>A	c.(922-924)tgG>tgA	p.W308*	DNASE2B_uc001dju.1_Nonsense_Mutation_p.W100*|DNASE2B_uc009wch.1_Nonsense_Mutation_p.W100*	NM_021233	NP_067056	Q8WZ79	DNS2B_HUMAN	Homo sapiens deoxyribonuclease II beta (DNASE2B), transcript variant 1, mRNA.	308					DNA metabolic process	lysosome	deoxyribonuclease II activity			endometrium(1)|lung(4)|skin(1)	6				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)		ATGCCAAGTGGTGTATTTCCC	0.408000														19			19		0	0	0.00121646	0	0
DNAH7	56171	broad.mit.edu	37	2	196659171	196659171	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:196659171C>T	uc002utj.4	-	56	10708	c.10607G>A	c.(10606-10608)gGa>gAa	p.G3536E	DNAH7_uc002uti.4_Missense_Mutation_p.G19E	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3536	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CATTTTCACTCCATTCTGCAG	0.458000														45			28		0	0	0.00127121	0	0
MERTK	10461	broad.mit.edu	37	2	112722775	112722775	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:112722775G>A	uc002thk.1	+	4	887	c.765G>A	c.(763-765)acG>acA	p.T255T	MERTK_uc002thl.1_Silent_p.T79T	NM_006343	NP_006334	Q12866	MERTK_HUMAN	Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA.	255	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						CAGGCCTGACGGAGATGGCGG	0.483000														50			26		0	0	0.0024448	0	0
MUC16	94025	broad.mit.edu	37	19	9077737	9077737	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:9077737G>A	uc002mkp.3	-	2	9913	c.9709C>T	c.(9709-9711)Ccc>Tcc	p.P3237S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3238	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTCTCCATGGGAACAGTTGTT	0.527000														70			35		0	0	0.000814825	0	0
MUC17	140453	broad.mit.edu	37	7	100678106	100678106	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:100678106G>A	uc003uxp.1	+	2	3462	c.3409G>A	c.(3409-3411)Gaa>Aaa	p.E1137K	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1137	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACTTCTACTGAAGCCAGTTC	0.532000														177			109		0	0	0.000781405	0	0
ROBO3	64221	broad.mit.edu	37	11	124749733	124749733	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:124749733C>T	uc001qbc.3	+	25	4016	c.3847C>T	c.(3847-3849)Cta>Tta	p.L1283L	ROBO3_uc001qbd.2_Silent_p.L208L|ROBO3_uc010sar.2_Silent_p.L332L|ROBO3_uc001qbe.3_Silent_p.L208L|ROBO3_uc001qbf.1_Silent_p.L167L	NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 3 (Drosophila) (ROBO3), mRNA.	1283					axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		GAGCTGGGCCCTAGAGCTGAG	0.677000														16			6		0	0	0.00198382	0	0
TTC4	7268	broad.mit.edu	37	1	55188376	55188376	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:55188376C>T	uc001cxv.3	+	4	663	c.531C>T	c.(529-531)caC>caT	p.H177H	HEATR8_uc001cxq.3_Non-coding_Transcript|TTC4_uc001cxx.4_Silent_p.H166H			O95801	TTC4_HUMAN	Homo sapiens tetratricopeptide repeat domain 4 (TTC4), mRNA.	166							binding			breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1)	9						AACTGAAACACTTTGCCGAGG	0.483000														55			42		0	0	0.000781405	0	0
SLC12A3	6559	broad.mit.edu	37	16	56928513	56928513	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:56928513C>T	uc002ekd.4	+	21	2648	c.2619C>T	c.(2617-2619)ttC>ttT	p.F873F	SLC12A3_uc010ccm.3_Silent_p.F864F|SLC12A3_uc010ccn.3_Silent_p.F872F	NM_000339	NP_000330	P55017	S12A3_HUMAN	Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA.	864					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)	TCCGTGTGTTCGTAGGCGGCC	0.582000														27			17		0	0	0.00152264	0	0
SYT10	341359	broad.mit.edu	37	12	33559763	33559763	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:33559763C>T	uc001rll.1	-	2	1335	c.1038G>A	c.(1036-1038)agG>agA	p.R346R	SYT10_uc009zju.1_Silent_p.R156R	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	Homo sapiens synaptotagmin X (SYT10), mRNA.	346						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					CTGTGGCTTCCCTGGAGAGAT	0.343000														21			18		0	0	0.00188189	0	0
GRIK3	2899	broad.mit.edu	37	1	37270649	37270649	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:37270649G>A	uc001caz.2	-	14	2639	c.2504C>T	c.(2503-2505)tCt>tTt	p.S835F	GRIK3_uc001cba.1_Missense_Mutation_p.S835F	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	835					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CACCAGCACAGAGAGGACCAG	0.592000														32			20		0	0	0.00121646	0	0
COG8	84342	broad.mit.edu	37	16	69364885	69364886	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:69364885_69364886CC>TT	uc002ewy.2	-	4	1766_1767	c.1695_1696GG>AA	c.(1693-1698)ctggat>ctAAat	p.D566N	PDF_uc002ewx.1_5'Flank	NM_032382	NP_115758	Q96MW5	COG8_HUMAN	Homo sapiens component of oligomeric golgi complex 8 (COG8), mRNA.	566					protein transport	Golgi membrane|Golgi transport complex				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						GCCTGGTCATCCAGGGTGAAAA	0.658000														5			4		0	0	6.4e-05	0	0
GRM1	2911	broad.mit.edu	37	6	146351187	146351187	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:146351187C>T	uc010khw.1	+	1	1004	c.534C>T	c.(532-534)ttC>ttT	p.F178F	GRM1_uc010khu.1_Silent_p.F178F|GRM1_uc010khv.1_Silent_p.F178F|GRM1_uc003qll.2_Silent_p.F178F|GRM1_uc011edz.1_Silent_p.F178F|GRM1_uc011eea.1_Silent_p.F178F	NM_000838	NP_000829	Q13255	GRM1_HUMAN	Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	178					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TCCAGCTCTTCGACATCCCCC	0.542000														15			24		0	0	0.000586117	0	0
ULK1	8408	broad.mit.edu	37	12	132398952	132398952	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:132398952C>T	uc001uje.3	+	15	1571	c.1303C>T	c.(1303-1305)Ccc>Tcc	p.P435S		NM_003565	NP_003556	O75385	ULK1_HUMAN	Homo sapiens unc-51-like kinase 1 (C. elegans) (ULK1), mRNA.	435					autophagy|protein localization|regulation of autophagy	ULK1-ATG13-FIP200 complex|autophagic vacuole|cytosol|pre-autophagosomal structure	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CATCCCAGTCCCCACGCAGGT	0.637000														19			22		0	0	0.00152264	0	0
MECOM	2122	broad.mit.edu	37	3	168838981	168838981	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:168838981C>T	uc011bpj.1	-	6	1398	c.995G>A	c.(994-996)aGc>aAc	p.S332N	MECOM_uc010hwk.1_Missense_Mutation_p.S167N|MECOM_uc003ffj.3_Missense_Mutation_p.S209N|MECOM_uc003ffi.3_Missense_Mutation_p.S144N|MECOM_uc011bpi.1_Missense_Mutation_p.S145N|MECOM_uc003ffn.3_Missense_Mutation_p.S144N|MECOM_uc003ffk.2_Missense_Mutation_p.S144N|MECOM_uc003ffl.2_Missense_Mutation_p.S304N|MECOM_uc011bpk.1_Missense_Mutation_p.S144N|MECOM_uc010hwn.2_Missense_Mutation_p.S332N	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CTGAAGGTTGCTAGGGTCCGT	0.502000														17			10		0	0	0.000442599	0	0
DARS	1615	broad.mit.edu	37	2	136664915	136664915	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:136664915G>A	uc002tux.1	-	15	1661	c.1477C>T	c.(1477-1479)Cct>Tct	p.P493S	DARS_uc010fnj.1_Missense_Mutation_p.P393S	NM_001349	NP_001340	P14868	SYDC_HUMAN	Homo sapiens aspartyl-tRNA synthetase (DARS), mRNA.	493					aspartyl-tRNA aminoacylation|protein complex assembly	cytosol|nuclear membrane|plasma membrane|soluble fraction	ATP binding|aminoacylase activity|aspartate-tRNA ligase activity|nucleic acid binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	GGATCACGAGGGAACATGGAG	0.403000														27			12		0	0	0.000978159	0	0
DZIP1	22873	broad.mit.edu	37	13	96246260	96246260	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr13:96246260C>T	uc001vmk.3	-	15	2470	c.1618G>A	c.(1618-1620)Gga>Aga	p.G540R	DZIP1_uc001vmj.3_Missense_Mutation_p.G16R|DZIP1_uc001vml.3_Missense_Mutation_p.G521R	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	Homo sapiens DAZ interacting protein 1 (DZIP1), transcript variant 2, mRNA.	540					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			GTTCTTAGTCCCTTAGTGAGG	0.343000														47			28		0	0	0.001512	0	0
CASC4	113201	broad.mit.edu	37	15	44673052	44673052	+	Missense_Mutation	SNP	C	T	T	rs150204732		TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:44673052C>T	uc001ztp.3	+	7	1269	c.950C>T	c.(949-951)cCt>cTt	p.P317L	CASC4_uc001ztq.3_Missense_Mutation_p.P317L|CASC4_uc001zto.2_Missense_Mutation_p.P317L	NM_138423	NP_612432	Q6P4E1	CASC4_HUMAN	Homo sapiens cancer susceptibility candidate 4 (CASC4), transcript variant 1, mRNA.	317						integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		AAACAGAATCCTTCCAGTCCT	0.363000														29			23		0	0	0.00178596	0	0
NRD1	4898	broad.mit.edu	37	1	52299747	52299747	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:52299747C>T	uc001ctc.4	-	5	1334	c.1012G>A	c.(1012-1014)Gaa>Aaa	p.E338K	NRD1_uc009vzb.3_Missense_Mutation_p.E33K|NRD1_uc001cte.3_Missense_Mutation_p.E206K|NRD1_uc001ctd.4_Missense_Mutation_p.E270K|NRD1_uc001ctf.2_Missense_Mutation_p.E270K|NRD1_uc010ong.1_Non-coding_Transcript|NRD1_uc009vzc.1_Missense_Mutation_p.E138K	NM_002525	NP_001229290	O43847	NRDC_HUMAN	Homo sapiens nardilysin (N-arginine dibasic convertase) (NRD1), transcript variant 1, mRNA.	269					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						ACAGTGCGTTCACAATCAGTT	0.373000														96			73		0	0	0.000781405	0	0
GOLGA6L5	374650	broad.mit.edu	37	15	85055759	85055759	+	RNA	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:85055759C>T	uc002bkm.2	-	5		c.801G>A								Homo sapiens golgin A6 family-like 5 (pseudogene) (GOLGA6L5), non-coding RNA.																		AGCCTCTCCTCCTGTTCACAC	0.547000														13			6		0	0	0.000157383	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133654723	133654723	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:133654723G>A	uc003eqa.4	-	12	1983	c.1709C>T	c.(1708-1710)gCc>gTc	p.A570V		NM_005630	NP_005621	Q92959	SO2A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2A1 (SLCO2A1), mRNA.	570					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						GCCATAGAGGGCTGGAGATGG	0.622000														8			4		0	0	0.00024832	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204426965	204426965	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:204426965G>A	uc001haw.3	-	9	2083	c.1604C>T	c.(1603-1605)tCc>tTc	p.S535F	PIK3C2B_uc010pqv.2_Missense_Mutation_p.S535F|PIK3C2B_uc001hax.1_Missense_Mutation_p.S535F|PIK3C2B_uc009xbd.1_Non-coding_Transcript	NM_002646	NP_002637	O00750	P3C2B_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA.	535					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GGCCTTGACGGACTGGACCAC	0.632000														35			11		0	0	0.00185496	0	0
UQCRC2	7385	broad.mit.edu	37	16	21979970	21979970	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:21979970C>A	uc002djx.3	+	7	770	c.634C>A	c.(634-636)Cat>Aat	p.H212N	UQCRC2_uc002djz.1_Missense_Mutation_p.H79N	NM_003366	NP_003357	P22695	QCR2_HUMAN	Homo sapiens ubiquinol-cytochrome c reductase core protein II (UQCRC2), nuclear gene encoding mitochondrial protein, mRNA.	212					aerobic respiration|oxidative phosphorylation|proteolysis|respiratory electron transport chain|transport		metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(48;0.0264)		CGTTCAGAACCATTTCACAAG	0.333000														169			7		0.000274275	0.00125122	0.000274275	1	0
ADAM2	2515	broad.mit.edu	37	8	39618716	39618716	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr8:39618716C>T	uc003xnj.3	-	14	1667	c.1592G>A	c.(1591-1593)gGa>gAa	p.G531E	ADAM2_uc003xnk.3_Missense_Mutation_p.G512E|ADAM2_uc011lck.2_Missense_Mutation_p.G531E|ADAM2_uc003xnl.3_Missense_Mutation_p.G405E	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	531	Cys-rich.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CTGTGTGTATCCTGAATCACT	0.323000														52			38		0	0	0.000680045	0	0
FAM13A	10144	broad.mit.edu	37	4	89688742	89688742	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:89688742C>T	uc003hse.1	-	12	1748	c.1540G>A	c.(1540-1542)Gga>Aga	p.G514R	FAM13A_uc003hsb.1_Missense_Mutation_p.G188R|FAM13A_uc003hsd.1_Missense_Mutation_p.G188R|FAM13A_uc003hsc.1_Missense_Mutation_p.G174R|FAM13A_uc011cdq.1_Missense_Mutation_p.G160R|FAM13A_uc003hsf.1_Missense_Mutation_p.G100R|FAM13A_uc003hsg.1_5'UTR|FAM13A_uc010ikr.1_Missense_Mutation_p.G10R	NM_014883	NP_055698	O94988	FA13A_HUMAN	Homo sapiens family with sequence similarity 13, member A (FAM13A), transcript variant 1, mRNA.	514					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						TTTTCATTTCCTTTCCTATAA	0.333000														27			10		0	0	0.00136819	0	0
FOXJ3	22887	broad.mit.edu	37	1	42657072	42657072	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:42657072G>A	uc001che.3	-	10	1565	c.1253C>T	c.(1252-1254)cCc>cTc	p.P418L	FOXJ3_uc001chf.3_Missense_Mutation_p.P418L|FOXJ3_uc001chh.2_Missense_Mutation_p.P384L|FOXJ3_uc001chg.3_Missense_Mutation_p.P418L	NM_001198851	NP_001185780	Q9UPW0	FOXJ3_HUMAN	Homo sapiens forkhead box J3 (FOXJ3), transcript variant 3, mRNA.	418					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ATGTGGAGAGGGATGCTGGGG	0.577000														36			25		0	0	0.000720815	0	0
OR2T4	127074	broad.mit.edu	37	1	248525769	248525769	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:248525769C>G	uc001ieh.1	+	0	887	c.887C>G	c.(886-888)tCc>tGc	p.S296C		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 4 (OR2T4), mRNA.	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S296F(2)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTCCCCAGCTCCTACCACACC	0.517000														55			64		0	0	0.000781405	0	0
HABP2	3026	broad.mit.edu	37	10	115334134	115334134	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:115334134C>T	uc001lai.4	+	2	296	c.193C>T	c.(193-195)Cct>Tct	p.P65S	HABP2_uc021pyr.1_Missense_Mutation_p.P39S|HABP2_uc010qrz.1_Non-coding_Transcript|HABP2_uc010qry.1_Silent_p.I53I	NM_004132	NP_001171131	Q14520	HABP2_HUMAN	Homo sapiens hyaluronan binding protein 2 (HABP2), transcript variant 1, mRNA.	65					cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity	p.P65T(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		CGCTGAGAATCCTGACTGGTA	0.507000														35			19		0	0	0.00188189	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882998	228882998	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:228882998C>T	uc002vpq.2	-	6	2619	c.2572G>A	c.(2572-2574)Gaa>Aaa	p.E858K	SPHKAP_uc002vpp.2_Missense_Mutation_p.E858K|SPHKAP_uc010zlx.1_Missense_Mutation_p.E858K	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	858						cytoplasm	protein binding	p.E858*(3)|p.S857S(1)		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)		CTTTGTCCTTCGGAAGAGGCT	0.488000														54			33		0	0	0.0024448	0	0
FNTA	2339	broad.mit.edu	37	8	42940407	42940407	+	Silent	SNP	A	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr8:42940407A>T	uc003xps.3	+	8	1170	c.1122A>T	c.(1120-1122)ccA>ccT	p.P374P	FNTA_uc003xpt.3_Silent_p.P283P|FNTA_uc003xpv.3_Non-coding_Transcript	NM_002027	NP_002018	P49354	FNTA_HUMAN	Homo sapiens farnesyltransferase, CAAX box, alpha (FNTA), transcript variant 1, mRNA.	374					cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	CAAX-protein geranylgeranyltransferase activity|alpha-tubulin binding|microtubule binding|protein farnesyltransferase activity			cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			ATGACTCACCAACAAATGTAC	0.393000														31			12		0	0	0.000978159	0	0
RELN	5649	broad.mit.edu	37	7	103130325	103130325	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:103130325G>A	uc022ajr.1	-	59	9787	c.9627C>T	c.(9625-9627)atC>atT	p.I3209I	RELN_uc022ajq.1_Silent_p.I3209I|RELN_uc010liz.3_Silent_p.I3209I	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	3209					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.W3208L(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTCCCTTCTGGATCCAGCGGA	0.542000														26			23		0	0	0.000878237	0	0
SUCLA2	8803	broad.mit.edu	37	13	48523624	48523624	+	Silent	SNP	A	G	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr13:48523624A>G	uc001vbs.3	-	8	1279	c.1222T>C	c.(1222-1224)Tta>Cta	p.L408L	SUCLA2_uc010tgb.2_Silent_p.L348L|SUCLA2_uc010tgc.2_Silent_p.L274L|SUCLA2_uc010tgd.2_Silent_p.L348L	NM_003850	NP_003841	Q9P2R7	SUCB1_HUMAN	Homo sapiens succinate-CoA ligase, ADP-forming, beta subunit (SUCLA2), nuclear gene encoding mitochondrial protein, mRNA.	408					succinyl-CoA pathway|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	p.R407W(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4)	15		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;2.1e-06)	Succinic acid(DB00139)	TCACCTTGTAACCGTACCACA	0.353000														31			14		0	0	0.00074312	0	0
POFUT1	23509	broad.mit.edu	37	20	30822425	30822425	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:30822425C>T	uc002wxp.3	+	6	1177	c.1128C>T	c.(1126-1128)ttC>ttT	p.F376F	POFUT1_uc010ztt.2_Silent_p.F268F|POFUT1_uc010ztu.2_Silent_p.F165F	NM_015352	NP_056167	Q9H488	OFUT1_HUMAN	Homo sapiens protein O-fucosyltransferase 1 (POFUT1), transcript variant 1, mRNA.	376					Notch signaling pathway|O-glycan processing|fucose metabolic process|regulation of transcription, DNA-dependent	endoplasmic reticulum|membrane	peptide-O-fucosyltransferase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	6			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CTTCTTTCTTCGGCATGGACA	0.607000														129			37		0	0	0.00170553	0	0
CAMTA1	23261	broad.mit.edu	37	1	7700579	7700579	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:7700579G>A	uc001aoi.3	+	6	837	c.630G>A	c.(628-630)acG>acA	p.T210T		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	210					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CGAAATGGACGAAAGAAGAGC	0.637000			T	WWTR1	epitheliod hemangioendothelioma									29			30		0	0	0.00209593	0	0
FERD3L	222894	broad.mit.edu	37	7	19184901	19184901	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:19184901G>A	uc003suo.1	-	0	144	c.85C>T	c.(85-87)Ctc>Ttc	p.L29F	BC043576_uc003sun.1_Non-coding_Transcript	NM_152898	NP_690862	Q96RJ6	FER3L_HUMAN	Homo sapiens Fer3-like (Drosophila) (FERD3L), mRNA.	29					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.P28T(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						TCGCAGAGGAGAGGGCGTCTC	0.682000														25			11		0	0	0.00185496	0	0
TAS2R1	50834	broad.mit.edu	37	5	9629337	9629337	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:9629337G>A	uc003jem.1	-	0	1127	c.808C>T	c.(808-810)Cct>Tct	p.P270S		NM_019599	NP_062545	Q9NYW7	TA2R1_HUMAN	Homo sapiens taste receptor, type 2, member 1 (TAS2R1), mRNA.	270					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						TGTCCAGAAGGGTATATACCA	0.373000														63			38		0	0	0.000509022	0	0
CSMD2	114784	broad.mit.edu	37	1	34080129	34080129	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:34080129C>T	uc001bxm.1	-	39	6285	c.6108G>A	c.(6106-6108)tgG>tgA	p.W2036*	CSMD2_uc001bxn.1_Nonsense_Mutation_p.W1996*|CSMD2_uc001bxo.1_Nonsense_Mutation_p.W909*	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1996	CUB 12.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTGCTATTTTCCAGGAGCAGT	0.567000														10			7		0	0	0.000274275	0	0
CMYA5	202333	broad.mit.edu	37	5	79029566	79029566	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:79029566C>T	uc003kgc.3	+	1	5050	c.4978C>T	c.(4978-4980)Ccc>Tcc	p.P1660S		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	1660						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGCAAAGTCTCCCATAACTGA	0.413000														18			12		0	0	0.00136819	0	0
SLC35C2	51006	broad.mit.edu	37	20	44986401	44986401	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:44986401G>A	uc010zxp.2	-	3	312	c.219C>T	c.(217-219)ttC>ttT	p.F73F	SLC35C2_uc002xro.3_Silent_p.F44F|SLC35C2_uc002xrp.3_Silent_p.F44F|SLC35C2_uc002xrq.3_Silent_p.F44F|SLC35C2_uc002xrr.3_Silent_p.F44F|SLC35C2_uc010zxn.2_Intron|SLC35C2_uc010zxo.2_Intron	NM_173179	NP_775271	Q9NQQ7	S35C2_HUMAN	Homo sapiens solute carrier family 35, member C2 (SLC35C2), transcript variant 1, mRNA.	44					transport	integral to membrane		p.F44F(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	16		Myeloproliferative disorder(115;0.0122)				TGAAGAGGGGGAAATGGAAGC	0.632000														15			46		0	0	0.000781405	0	0
DYSF	8291	broad.mit.edu	37	2	71791229	71791229	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:71791229G>A	uc010fen.3	+	23	2592	c.2451G>A	c.(2449-2451)caG>caA	p.Q817Q	DYSF_uc010fei.3_Silent_p.Q816Q|DYSF_uc010feh.3_Silent_p.Q785Q|DYSF_uc002sig.4_Silent_p.Q785Q|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Silent_p.Q830Q|DYSF_uc010fee.3_Silent_p.Q799Q|DYSF_uc010fef.3_Silent_p.Q816Q|DYSF_uc002sie.3_Silent_p.Q799Q|DYSF_uc010feo.3_Silent_p.Q831Q|DYSF_uc010fej.3_Silent_p.Q786Q|DYSF_uc010fel.3_Silent_p.Q786Q|DYSF_uc010fem.3_Silent_p.Q800Q|DYSF_uc002sif.3_Silent_p.Q800Q|DYSF_uc010fek.3_Silent_p.Q817Q	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	799						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GGATGCTGCAGGGAGACAAGC	0.632000														28			30		0	0	0.0024448	0	0
SPRR3	6707	broad.mit.edu	37	1	152975906	152975906	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:152975906G>A	uc021ozo.1	+	0	410	c.410G>A	c.(409-411)gGa>gAa	p.G137E	SPRR3_uc001fax.4_Missense_Mutation_p.G137E|SPRR3_uc001faz.4_Missense_Mutation_p.G137E|SPRR3_uc001fay.2_Missense_Mutation_p.G129E	NM_005416	NP_005407	Q9UBC9	SPRR3_HUMAN	Homo sapiens small proline-rich protein 3 (SPRR3), transcript variant 1, mRNA.	137	14 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCTGAGCAAGGATACACCAAA	0.537000														14			11		0	0	0.000673444	0	0
ZNF275	10838	broad.mit.edu	37	X	152612510	152612510	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:152612510C>T	uc011myn.2	+	1	1080	c.178C>T	c.(178-180)Cac>Tac	p.H60Y	ZNF275_uc004fhg.2_Missense_Mutation_p.H123Y|ZNF275_uc022cht.1_Missense_Mutation_p.H60Y|ZNF275_uc022chu.1_5'Flank	NM_001080485	NP_001073954	A6NFS0	A6NFS0_HUMAN	Homo sapiens zinc finger protein 275 (ZNF275), mRNA.	123						intracellular	nucleic acid binding|zinc ion binding	p.L59I(1)		endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCAGAGAGTCCACAGTGAGGA	0.547000														2			10		0	0	0.000978159	0	0
CHRM4	1132	broad.mit.edu	37	11	46407402	46407402	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:46407402C>T	uc001nct.1	-	0	706	c.706G>A	c.(706-708)Gag>Aag	p.E236K		NM_000741	NP_000732	P08173	ACM4_HUMAN	Homo sapiens cholinergic receptor, muscarinic 4 (CHRM4), mRNA.	236					cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)	GCTTTCTTCTCCTTCGGGCCC	0.637000														6			8		0	0	0.000157383	0	0
CEP290	80184	broad.mit.edu	37	12	88483138	88483138	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:88483138A>T	uc001tar.3	-	30	4044	c.3700T>A	c.(3700-3702)Tac>Aac	p.Y1234N	CEP290_uc001taq.3_Missense_Mutation_p.Y294N	NM_025114	NP_079390	O15078	CE290_HUMAN	Homo sapiens centrosomal protein 290kDa (CEP290), mRNA.	1234					G2/M transition of mitotic cell cycle|cilium assembly|eye photoreceptor cell development|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						CGCAAGTTGTAGGCCTCCATC	0.433000														32			20		0	0	0.00188189	0	0
VPS13D	55187	broad.mit.edu	37	1	12409243	12409243	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:12409243C>T	uc001atv.3	+	45	9384	c.9243C>T	c.(9241-9243)atC>atT	p.I3081I	VPS13D_uc001atw.3_Silent_p.I3056I|VPS13D_uc001atx.3_Silent_p.I2268I	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	3080					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)		TTCCTGCTATCATGCCAGGGG	0.507000														66			31		0	0	0.000692331	0	0
C3orf62	375341	broad.mit.edu	37	3	49314045	49314045	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:49314045C>T	uc003cwn.2	-	0	464	c.261G>A	c.(259-261)gaG>gaA	p.E87E	C3orf62_uc003cwm.2_5'Flank	NM_198562	NP_940964	Q6ZUJ4	CC062_HUMAN	Homo sapiens chromosome 3 open reading frame 62 (C3orf62), mRNA.	87								p.E87E(2)		breast(1)|kidney(1)|large_intestine(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GGTTCTCATTCTCAGGAGCAC	0.532000														43			38		0	0	0.000953801	0	0
EPB41L1	2036	broad.mit.edu	37	20	34778246	34778246	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:34778246G>A	uc002xfb.3	+	9	1245	c.1074G>A	c.(1072-1074)cgG>cgA	p.R358R	EPB41L1_uc002xeu.3_Silent_p.R296R|EPB41L1_uc010zvo.1_Silent_p.R358R|EPB41L1_uc002xev.3_Silent_p.R358R|EPB41L1_uc002xew.3_Silent_p.R261R|EPB41L1_uc002xex.3_Silent_p.R327R|EPB41L1_uc002xey.3_Silent_p.R285R|EPB41L1_uc002xez.3_Silent_p.R296R	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 1 (EPB41L1), transcript variant 1, mRNA.	358	FERM.				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)					CAAACCACCGGTCAGCCAAGA	0.537000														29			45		0	0	0.000781405	0	0
STRN4	29888	broad.mit.edu	37	19	47232010	47232010	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:47232010C>T	uc002pfm.3	-	6	937	c.904G>A	c.(904-906)Gaa>Aaa	p.E302K	STRN4_uc002pfl.3_Missense_Mutation_p.E302K|STRN4_uc010xyf.2_Non-coding_Transcript|STRN4_uc010xyg.1_Non-coding_Transcript	NM_001039877	NP_001034966	Q9NRL3	STRN4_HUMAN	Homo sapiens striatin, calmodulin binding protein 4 (STRN4), transcript variant 2, mRNA.	302						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		TCTTCCATTTCGGGCACCAGA	0.567000														67			39		0	0	0.000781405	0	0
PCLO	27445	broad.mit.edu	37	7	82545358	82545358	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:82545358G>A	uc003uhx.2	-	6	12233	c.11944C>T	c.(11944-11946)Cgc>Tgc	p.R3982C	PCLO_uc003uhv.2_Missense_Mutation_p.R3982C|PCLO_uc010lec.3_Missense_Mutation_p.R947C	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3913					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.R3982C(3)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGTTGGTTGCGAATCACTTCA	0.388000														78			62		0	0	0.000781405	0	0
abParts	0	broad.mit.edu	37	14	107218762	107218762	+	RNA	SNP	T	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:107218762T>A	uc021ser.1	-	12		c.1001A>T								Parts of antibodies, mostly variable regions.																		TCTCTGGAGATGGTGAATCGG	0.552000														115			61		0	0	0.000781405	0	0
OR4X2	119764	broad.mit.edu	37	11	48267210	48267210	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:48267210C>T	uc001ngs.1	+	0	555	c.555C>T	c.(553-555)ttC>ttT	p.F185F		NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 2 (OR4X2), mRNA.	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						CTGACACCTTCCTCATTGGTC	0.483000														77			49		0	0	0.000781405	0	0
CTR9	9646	broad.mit.edu	37	11	10772987	10772987	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:10772987C>T	uc001mja.3	+	0	177	c.28C>T	c.(28-30)Ctc>Ttc	p.L10F		NM_014633	NP_055448	Q6PD62	CTR9_HUMAN	Homo sapiens Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (CTR9), mRNA.	10					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CGAGATTCCCCTCCGGGACAC	0.617000														18			9		0	0	0.000442599	0	0
CFHR1	3078	broad.mit.edu	37	1	196801090	196801090	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:196801090G>A	uc001gtn.3	+	5	1068	c.954G>A	c.(952-954)tgG>tgA	p.W318*	CFH_uc021pgt.1_Intron|CFHR1_uc001gtm.3_Nonsense_Mutation_p.W222*	NM_002113	NP_002104	Q03591	FHR1_HUMAN	Homo sapiens complement factor H-related 1 (CFHR1), mRNA.	318	Sushi 5.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						CAACATGTTGGGATGGGAAAC	0.358000														74			29		0	0	0.000491102	0	0
MUC17	140453	broad.mit.edu	37	7	100691326	100691326	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:100691326G>A	uc003uxp.1	+	3	12518	c.12465G>A	c.(12463-12465)ggG>ggA	p.G4155G	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	4155	EGF-like.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCTGGGATGGGCTCAAGTGCC	0.547000														36			26		0	0	0.00127121	0	0
SLC29A4	222962	broad.mit.edu	37	7	5340081	5340081	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:5340081G>T	uc003sod.3	+	9	1399	c.1238G>T	c.(1237-1239)cGg>cTg	p.R413L	SLC29A4_uc003soc.3_Missense_Mutation_p.R413L|SLC29A4_uc003soe.3_Missense_Mutation_p.R399L	NM_153247	NP_694979	Q7RTT9	S29A4_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 4 (SLC29A4), transcript variant 2, mRNA.	413					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		GTGGACTGGCGGGGCACCCAC	0.706000														63			5		0.000602214	0.00273746	0.000602214	1	0
SON	6651	broad.mit.edu	37	21	34925573	34925573	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr21:34925573C>T	uc002yse.1	+	2	4085	c.4036C>T	c.(4036-4038)Ccg>Tcg	p.P1346S	SON_uc002ysb.1_Missense_Mutation_p.P1346S|SON_uc002ysc.3_Missense_Mutation_p.P1346S|SON_uc002ysd.3_Missense_Mutation_p.P337S|SON_uc002ysf.1_Intron|SON_uc021win.1_Missense_Mutation_p.P992S|SON_uc002ysg.3_Missense_Mutation_p.P337S	NM_138927	NP_620305	P18583	SON_HUMAN	Homo sapiens SON DNA binding protein (SON), transcript variant f, mRNA.	1346					RNA splicing|anti-apoptosis|cytokinesis|mRNA processing|regulation of RNA splicing|regulation of cell cycle|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						CATTCTGGAGCCGCCAGCCAT	0.547000														20			24		0	0	0.000878237	0	0
COL22A1	169044	broad.mit.edu	37	8	139642954	139642954	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr8:139642954C>T	uc003yvd.3	-	49	4094	c.3647G>A	c.(3646-3648)gGa>gAa	p.G1216E	COL22A1_uc011ljo.2_Missense_Mutation_p.G496E	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	1216	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.P1215Q(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCCTTGGATTCCTGGTGGTCC	0.473000										HNSCC(7;0.00092)				49			27		0	0	0.001512	0	0
COPS8	10920	broad.mit.edu	37	2	237994633	237994633	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:237994633G>A	uc002vwh.3	+	0	550	c.26G>A	c.(25-27)aGc>aAc	p.S9N	AK056246_uc002vwf.1_5'Flank|COPS8_uc010fys.1_Non-coding_Transcript|COPS8_uc002vwg.3_5'UTR	NM_006710	NP_937832	Q99627	CSN8_HUMAN	Homo sapiens COP9 constitutive photomorphogenic homolog subunit 8 (Arabidopsis) (COPS8), transcript variant 1, mRNA.	9					cullin deneddylation	cytoplasm|signalosome				large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4		Breast(86;0.000162)|Renal(207;0.00339)|all_hematologic(139;0.0123)|Ovarian(221;0.0694)|Acute lymphoblastic leukemia(138;0.0775)|all_lung(227;0.169)|all_neural(83;0.211)		Epithelial(121;7.41e-23)|OV - Ovarian serous cystadenocarcinoma(60;5.42e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000175)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0258)		ATGGCGGAAAGCGCCTTTAGT	0.627000														9			8		0	0	0.000274275	0	0
DLC1	10395	broad.mit.edu	37	8	12957202	12957202	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr8:12957202C>T	uc003wwm.2	-	8	3088	c.2644G>A	c.(2644-2646)Gtg>Atg	p.V882M	DLC1_uc003wwk.1_Missense_Mutation_p.V445M|DLC1_uc003wwl.1_Missense_Mutation_p.V479M|DLC1_uc011kxx.1_Missense_Mutation_p.V371M	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	882					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	p.V882V(1)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GAGCCCGGCACGTTGTCGTAG	0.582000														5			8		0	0	0.000274275	0	0
ZFP1	162239	broad.mit.edu	37	16	75203807	75203807	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:75203807C>T	uc002fdq.3	+	3	923	c.799C>T	c.(799-801)Ccc>Tcc	p.P267S	ZFP1_uc010cgt.3_Missense_Mutation_p.P234S|ZFP1_uc002fdo.3_Missense_Mutation_p.P267S|ZFP1_uc002fdp.3_Missense_Mutation_p.P212S|ZFP1_uc010cgs.3_Missense_Mutation_p.P212S	NM_153688	NP_710155	Q6P2D0	ZFP1_HUMAN	Homo sapiens zinc finger protein 1 homolog (mouse) (ZFP1), mRNA.	267					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	12						GGAGAAGAAGCCCTATGAGTG	0.468000														16			19		0	0	0.00152264	0	0
REV1	51455	broad.mit.edu	37	2	100038043	100038043	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:100038043G>A	uc002tad.3	-	10	1961	c.1749C>T	c.(1747-1749)acC>acT	p.T583T	REV1_uc002tac.3_Silent_p.T582T	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN	Homo sapiens REV1 homolog (S. cerevisiae) (REV1), transcript variant 1, mRNA.	583	UmuC.				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	DNA-directed DNA polymerase activity|damaged DNA binding|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAGTAAGTTTGGTCTCTGCAA	0.418000								Direct reversal of damage						70			46		0	0	0.000589545	0	0
LAMC2	3918	broad.mit.edu	37	1	183177078	183177078	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:183177078G>T	uc001gqa.2	+	1	456	c.142G>T	c.(142-144)Ggt>Tgt	p.G48C	LAMC2_uc001gpz.4_Missense_Mutation_p.G48C|LAMC2_uc010poa.2_5'UTR	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	Homo sapiens laminin, gamma 2 (LAMC2), transcript variant 1, mRNA.	48	Laminin EGF-like 1.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						CAGACAAACTGGTAATGGATT	0.473000														277			11		0.000978159	0.00443687	0.000978159	1	0
TMEM119	338773	broad.mit.edu	37	12	108985639	108985639	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:108985639G>A	uc001tng.3	-	1	684	c.521C>T	c.(520-522)gCc>gTc	p.A174V	TMEM119_uc021rdl.1_Missense_Mutation_p.A174V	NM_181724	NP_859075	Q4V9L6	TM119_HUMAN	Homo sapiens transmembrane protein 119 (TMEM119), mRNA.	174						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						CAAGATGTCGGCCTGGAGCTG	0.716000														30			21		0	0	0.00106085	0	0
TRIM49	57093	broad.mit.edu	37	11	89531642	89531642	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:89531642C>T	uc001pdb.3	-	7	1344	c.1015G>A	c.(1015-1017)Ggc>Agc	p.G339S		NM_020358	NP_065091	P0CI25	TRI49_HUMAN	Homo sapiens tripartite motif containing 49 (TRIM49), mRNA.	339	B30.2/SPRY.					intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TAATATTTGCCCGAGGTGAAA	0.428000														34			17		0	0	0.000878237	0	0
STMN2	11075	broad.mit.edu	37	8	80567234	80567234	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr8:80567234G>A	uc022awk.1	+	3	799	c.417G>A	c.(415-417)atG>atA	p.M139I	STMN2_uc003ybj.3_Missense_Mutation_p.M139I|STMN2_uc010lzp.3_Non-coding_Transcript	NM_001199214	NP_001186143	Q93045	STMN2_HUMAN	Homo sapiens stathmin-like 2 (STMN2), transcript variant 1, mRNA.	139					intracellular signal transduction|negative regulation of microtubule depolymerization|negative regulation of microtubule polymerization|negative regulation of neuron projection development|neuron differentiation|positive regulation of microtubule depolymerization|positive regulation of neuron projection development	axon|growth cone|membrane|membrane fraction|perinuclear region of cytoplasm|soluble fraction	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11	all_lung(9;8.34e-05)		Epithelial(68;0.0229)|all cancers(69;0.0874)			TCCTGAAAATGGAACAAATTA	0.453000														6			17		0	0	0.000422831	0	0
KRT36	8689	broad.mit.edu	37	17	39643315	39643315	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:39643315G>A	uc002hwt.3	-	5	1095	c.1095C>T	c.(1093-1095)atC>atT	p.I365I		NM_003771	NP_003762	O76013	KRT36_HUMAN	Homo sapiens keratin 36 (KRT36), mRNA.	365	Coil 2.|Rod.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				GGTCGCAGCGGATCTCAGACA	0.647000														53			49		0	0	0.000781405	0	0
KCNK18	338567	broad.mit.edu	37	10	118969168	118969168	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:118969168C>T	uc010qsr.2	+	2	513	c.513C>T	c.(511-513)ttC>ttT	p.F171F		NM_181840	NP_862823	Q7Z418	KCNKI_HUMAN	Homo sapiens potassium channel, subfamily K, member 18 (KCNK18), mRNA.	171						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		AATTCCCTTTCTTTACCCGCC	0.502000														57			36		0	0	0.00058488	0	0
COL4A5	1287	broad.mit.edu	37	X	107935983	107935983	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:107935983G>A	uc022ccg.1	+	49	4736	c.4534G>A	c.(4534-4536)Gct>Act	p.A1512T	COL4A5_uc004enz.1_Missense_Mutation_p.A1506T	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	1506	Collagen IV NC1.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	p.R1512H(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TCTAGGGACGGCTGGCAGCTG	0.398000									Alport syndrome with Diffuse Leiomyomatosis					8			25		0	0	0.000491102	0	0
LAMA3	3909	broad.mit.edu	37	18	21441765	21441765	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr18:21441765G>A	uc002kuq.3	+	34	4664	c.4578G>A	c.(4576-4578)ggG>ggA	p.G1526G	LAMA3_uc002kur.3_Silent_p.G1526G	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	1526	Laminin IV type A.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCTACCTGGGGGACAAGGTAA	0.572000														7			4		0	0	0.00024832	0	0
ZNF750	79755	broad.mit.edu	37	17	80790094	80790094	+	Silent	SNP	G	T	T	rs34808874	byFrequency	TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:80790094G>T	uc002kga.3	-	1	548	c.237C>A	c.(235-237)ccC>ccA	p.P79P	TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.3_Intron	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	Homo sapiens zinc finger protein 750 (ZNF750), mRNA.	79						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CCGTGGCATCGGGCTGGTTGG	0.507000														99			7		0.00198382	0.00892858	0.00198382	1	0
RBP3	5949	broad.mit.edu	37	10	48389177	48389177	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:48389177C>T	uc001jez.3	-	0	1815	c.1701G>A	c.(1699-1701)gaG>gaA	p.E567E		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	567	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CCGCGGTGATCTCACCTACCA	0.667000														26			15		0	0	0.000422831	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140754857	140754857	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:140754857C>T	uc003ljy.2	+	0	1207	c.1207C>T	c.(1207-1209)Cga>Tga	p.R403*	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_uc011dau.2_Nonsense_Mutation_p.R403*	NM_018919	NP_061742	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA.	405	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAATTATTATCGATTAGTGAC	0.458000														53			28		0	0	0.001512	0	0
FAM83C	128876	broad.mit.edu	37	20	33874858	33874859	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:33874858_33874859GG>AA	uc021wck.1	-	3	1841_1842	c.1723_1724CC>TT	c.(1723-1725)cct>TTt	p.P575F	EIF6_uc002xbv.1_5'Flank|EIF6_uc002xbx.1_5'Flank|EIF6_uc002xbz.1_5'Flank|EIF6_uc002xby.1_5'Flank|FAM83C_uc002xcb.1_Missense_Mutation_p.P230F	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	Homo sapiens family with sequence similarity 83, member C (FAM83C), mRNA.	575										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CCGATCACCAGGTCTGAGGGAA	0.634000														64			12		0	0	6.4e-05	0	0
STK11IP	114790	broad.mit.edu	37	2	220476525	220476525	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:220476525C>T	uc002vml.3	+	17	2380	c.2337C>T	c.(2335-2337)acC>acT	p.T779T		NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN	Homo sapiens serine/threonine kinase 11 interacting protein (STK11IP), mRNA.	779					protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CACCGAGCACCCGTGACCATG	0.597000														10			5		0	0	0.000602214	0	0
PMP2	5375	broad.mit.edu	37	8	82357094	82357094	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr8:82357094G>A	uc003ycb.1	-	1	302	c.204C>T	c.(202-204)ggC>ggT	p.G68G	PMP2_uc010lzv.1_Intron	NM_002677	NP_002668	P02689	MYP2_HUMAN	Homo sapiens peripheral myelin protein 2 (PMP2), mRNA.	68						cytoplasm	cholesterol binding|fatty acid binding|transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			Epithelial(68;0.186)			CAAATTCCTGGCCTAGCTTGA	0.393000														48			31		0	0	0.00058488	0	0
VPS13A	23230	broad.mit.edu	37	9	79946995	79946995	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:79946995G>A	uc004akr.3	+	45	6321	c.6061G>A	c.(6061-6063)Gaa>Aaa	p.E2021K	VPS13A_uc004akp.4_Missense_Mutation_p.E2021K|VPS13A_uc004akq.4_Missense_Mutation_p.E2021K|VPS13A_uc004aks.3_Missense_Mutation_p.E1982K|VPS13A_uc004akt.3_Missense_Mutation_p.E361K	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.	2021					Golgi to endosome transport|protein transport	intracellular	protein binding	p.E2021*(4)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TGCCTCACCTGAAAATGAATT	0.313000														69			43		0	0	0.000781405	0	0
HLTF	6596	broad.mit.edu	37	3	148792076	148792076	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:148792076C>T	uc003ewq.1	-	3	673	c.455G>A	c.(454-456)gGa>gAa	p.G152E	HLTF_uc003ewr.1_Missense_Mutation_p.G152E|HLTF_uc003ews.1_Missense_Mutation_p.G152E|HLTF_uc010hve.1_Missense_Mutation_p.G152E	NM_139048	NP_620636	Q14527	HLTF_HUMAN	Homo sapiens helicase-like transcription factor (HLTF), transcript variant 2, mRNA.	152					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TTCTTCTTTTCCCCAAAAAGT	0.353000														45			31		0	0	0.00209593	0	0
MUC16	94025	broad.mit.edu	37	19	9090772	9090772	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:9090772G>A	uc002mkp.3	-	0	1247	c.1043C>T	c.(1042-1044)tCc>tTc	p.S348F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	348	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCCCAGAGAGGAAATTGTGCT	0.502000														23			12		0	0	0.00136819	0	0
USHBP1	83878	broad.mit.edu	37	19	17373400	17373400	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:17373400C>T	uc002nfs.1	-	3	716	c.603G>A	c.(601-603)ctG>ctA	p.L201L	USHBP1_uc002nft.1_Non-coding_Transcript|USHBP1_uc010xpk.1_Silent_p.L137L|USHBP1_uc010eam.1_Silent_p.L129L	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Homo sapiens Usher syndrome 1C binding protein 1 (USHBP1), mRNA.	201							PDZ domain binding	p.S200F(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						GGATGGCCTCCAGGGAGGCCT	0.657000														36			15		0	0	0.000566183	0	0
DMRTC2	63946	broad.mit.edu	37	19	42354564	42354564	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:42354564C>T	uc010xwe.2	+	6	1023	c.940C>T	c.(940-942)Cca>Tca	p.P314S	DMRTC2_uc002orr.1_Missense_Mutation_p.P191S|DMRTC2_uc002ors.3_Intron	NM_001040283	NP_001035373	Q8IXT2	DMRTD_HUMAN	Homo sapiens DMRT-like family C2 (DMRTC2), mRNA.	275	Pro-rich.				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						GCGGGGGTTCCCAGTCTGCTT	0.617000														22			17		0	0	0.00229938	0	0
USP26	83844	broad.mit.edu	37	X	132160351	132160351	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:132160351G>A	uc011mvf.2	-	0	1950	c.1898C>T	c.(1897-1899)tCt>tTt	p.S633F	USP26_uc010nrm.1_Missense_Mutation_p.S633F	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA.	633					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					ATTTGGTTTAGAATTTTTTCC	0.398000														2			12		0	0	0.00185496	0	0
ATP6V1H	51606	broad.mit.edu	37	8	54684653	54684653	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr8:54684653C>T	uc003xrl.3	-	9	1097	c.945G>A	c.(943-945)ctG>ctA	p.L315L	ATP6V1H_uc003xrk.3_Silent_p.L275L|ATP6V1H_uc003xrm.3_Silent_p.L315L|ATP6V1H_uc003xrn.3_Silent_p.L297L|ATP6V1H_uc011ldv.2_Silent_p.L235L|ATP6V1H_uc010lyd.3_Silent_p.L251L	NM_213620	NP_998785	Q9UI12	VATH_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H (ATP6V1H), transcript variant 3, mRNA.	315					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism			endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	18		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			CCAACTGTTTCAGAACTTTGC	0.393000														30			22		0	0	0.00152264	0	0
PCDP1	200373	broad.mit.edu	37	2	120369239	120369239	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:120369239G>A	uc002tmb.3	+	13	1486	c.374G>A	c.(373-375)gGa>gAa	p.G125E	PCDP1_uc010yyq.2_Missense_Mutation_p.G255E	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN	Homo sapiens primary ciliary dyskinesia protein 1 (PCDP1), mRNA.	411						cilium	calmodulin binding					Colorectal(110;0.196)					CTAGACAGAGGAGATCCTATT	0.328000														38			22		0	0	0.000586117	0	0
GPI	2821	broad.mit.edu	37	19	34884842	34884843	+	Silent	DNP	CC	TT	TT			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:34884842_34884843CC>TT	uc002nvf.3	+	12	1220_1221	c.1050_1051CC>TT	c.(1048-1053)cccctg>ccTTtg	p.350_351PL>PL	GPI_uc010xrv.2_Silent_p.322_323PL>PL|GPI_uc002nvg.2_Silent_p.311_312PL>PL|GPI_uc010xrw.2_Silent_p.283_284PL>PL|GPI_uc002nvi.2_5'UTR	NM_000175	NP_000166	P06744	G6PI_HUMAN	Homo sapiens glucose-6-phosphate isomerase (GPI), transcript variant 2, mRNA.	311					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					GCACGACGCCCCTGGAGAAGAA	0.614000														75			39		0	0	6.4e-05	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76482807	76482807	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:76482807C>T	uc002fex.1	+	4	1034	c.895C>T	c.(895-897)Cat>Tat	p.H299Y	CNTNAP4_uc002feu.1_Missense_Mutation_p.H295Y|CNTNAP4_uc002fev.1_Missense_Mutation_p.H208Y|CNTNAP4_uc010chb.1_Missense_Mutation_p.H271Y|CNTNAP4_uc002few.2_Missense_Mutation_p.H271Y	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	296	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GCATCATTTCCATGCACGGGG	0.423000														18			11		0	0	0.000673444	0	0
AQP8	343	broad.mit.edu	37	16	25228638	25228638	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:25228638C>T	uc002doc.3	+	1	214	c.132C>T	c.(130-132)ggC>ggT	p.G44G		NM_001169	NP_001160	O94778	AQP8_HUMAN	Homo sapiens aquaporin 8 (AQP8), mRNA.	44					cellular response to cAMP	integral to plasma membrane	water channel activity			NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16				GBM - Glioblastoma multiforme(48;0.044)		AACTGCTGGGCTCTGCTCTCT	0.622000														88			60		0	0	0.000781405	0	0
BTNL2	56244	broad.mit.edu	37	6	32364160	32364160	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:32364160G>A	uc003obg.1	-	4	734	c.734C>T	c.(733-735)tCt>tTt	p.S245F	BTNL2_uc010jty.1_5'UTR|BTNL2_uc010jtz.1_Non-coding_Transcript|BTNL2_uc010jua.1_Missense_Mutation_p.S35F	NM_019602	NP_062548	Q9UIR0	BTNL2_HUMAN	Homo sapiens butyrophilin-like 2 (MHC class II associated) (BTNL2), mRNA.	245	Ig-like V-type 3.					integral to membrane		p.S245Y(2)		central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						CACTTTTAAAGAAGCTGTTAA	0.428000														17			6		0	0	0.000157383	0	0
EAPP	55837	broad.mit.edu	37	14	35005439	35005439	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:35005439G>A	uc001wsd.1	-	1	226	c.117C>T	c.(115-117)gaC>gaT	p.D39D		NM_018453	NP_060923	Q56P03	EAPP_HUMAN	Homo sapiens E2F-associated phosphoprotein (EAPP), mRNA.	39					negative regulation of transcription elongation from RNA polymerase II promoter|positive regulation of cell proliferation|positive regulation of transcription elongation from RNA polymerase II promoter	Golgi apparatus|nucleus|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	12	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)		TTCGTTTTTGGTCAGGAGTTC	0.308000														35			27		0	0	0.0024448	0	0
C1orf216	127703	broad.mit.edu	37	1	36181741	36181741	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:36181741G>A	uc001bzh.1	-	1	670	c.182C>T	c.(181-183)tCc>tTc	p.S61F	C1orf216_uc021oli.1_Missense_Mutation_p.S61F	NM_152374	NP_689587	Q8TAB5	CA216_HUMAN	Homo sapiens chromosome 1 open reading frame 216 (C1orf216), mRNA.	61										kidney(2)|lung(3)|skin(2)|urinary_tract(1)	8		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				TGACTCAGAGGAGCTCCTCCT	0.602000											OREG0013357	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		32			30		0	0	0.000953801	0	0
ZNF41	7592	broad.mit.edu	37	X	47307898	47307898	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:47307898G>A	uc004dhs.4	-	3	1464	c.1397C>T	c.(1396-1398)tCa>tTa	p.S466L	ZNF41_uc004dhu.4_Missense_Mutation_p.S458L|ZNF41_uc004dht.4_Missense_Mutation_p.S338L|ZNF41_uc004dhv.4_Missense_Mutation_p.S434L|ZNF41_uc004dhw.4_Missense_Mutation_p.S426L|ZNF41_uc004dhy.4_Missense_Mutation_p.S424L|ZNF41_uc004dhx.4_Missense_Mutation_p.S424L|ZNF41_uc011mlm.2_Missense_Mutation_p.S338L	NM_153380	NP_700359	P51814	ZNF41_HUMAN	Homo sapiens zinc finger protein 41 (ZNF41), transcript variant 2, mRNA.	466						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				CCTGAGTGCTGATTTTCTTGT	0.448000														11			53		0	0	0.000781405	0	0
TPP2	7174	broad.mit.edu	37	13	103301256	103301256	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr13:103301256G>A	uc001vpi.4	+	22	2732	c.2629_splice	c.e22-1	p.Y877_splice		NM_003291	NP_003282	P29144	TPP2_HUMAN	Homo sapiens tripeptidyl peptidase II (TPP2), mRNA.	877					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTCTTTTTCAGTATTCTTTGA	0.353000														10			8		0	0	0.000274275	0	0
MTTP	4547	broad.mit.edu	37	4	100528101	100528101	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:100528101C>T	uc011cej.2	+	10	1635	c.1622C>T	c.(1621-1623)cCt>cTt	p.P541L	MTTP_uc003hvc.4_Missense_Mutation_p.P514L	NM_000253	NP_000244	P55157	MTP_HUMAN	Homo sapiens microsomal triglyceride transfer protein (MTTP), mRNA.	514	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	TATGATCTCCCTTTCATAACT	0.433000														16			14		0	0	0.000219431	0	0
SYT10	341359	broad.mit.edu	37	12	33559748	33559748	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:33559748C>T	uc001rll.1	-	2	1350	c.1053G>A	c.(1051-1053)tgG>tgA	p.W351*	SYT10_uc009zju.1_Nonsense_Mutation_p.W161*	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	Homo sapiens synaptotagmin X (SYT10), mRNA.	351						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					GAATATCTTTCCATACTGTGG	0.333000														27			13		0	0	0.000219431	0	0
ASXL3	80816	broad.mit.edu	37	18	31324786	31324786	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr18:31324786G>A	uc010dmg.1	+	11	5029	c.4974G>A	c.(4972-4974)agG>agA	p.R1658R	ASXL3_uc002kxq.2_Silent_p.R1365R	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1658					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						TTCATCCCAGGAATCTTGTAA	0.438000														44			28		0	0	0.000491102	0	0
OR2G3	81469	broad.mit.edu	37	1	247769751	247769751	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:247769751C>T	uc010pyz.2	+	0	864	c.864C>T	c.(862-864)atC>atT	p.I288I		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 3 (OR2G3), mRNA.	288					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)			TAAATCCTATCATCTATACTT	0.418000														74			24		0	0	0.000878237	0	0
FUT8	2530	broad.mit.edu	37	14	66082806	66082806	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:66082806G>A	uc001xin.3	+	3	2041	c.314G>A	c.(313-315)aGa>aAa	p.R105K	FUT8_uc001xio.3_Missense_Mutation_p.R105K|FUT8_uc010tsp.2_5'UTR|FUT8_uc001xir.4_Non-coding_Transcript|FUT8_uc001xip.3_Missense_Mutation_p.R105K|FUT8_uc001xiq.3_5'UTR|FUT8_uc021ruy.1_5'Flank	NM_178155	NP_004471	Q9BYC5	FUT8_HUMAN	Homo sapiens fucosyltransferase 8 (alpha (1,6) fucosyltransferase) (FUT8), transcript variant 1, mRNA.	105					L-fucose catabolic process|N-glycan processing|in utero embryonic development|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein glycosylation in Golgi	Golgi cisterna membrane|integral to membrane	SH3 domain binding|glycoprotein 6-alpha-L-fucosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		AAACAGACCAGAAATGGTAGG	0.398000														16			8		0	0	0.000157383	0	0
FAM208B	54906	broad.mit.edu	37	10	5789846	5789847	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:5789846_5789847GG>AA	uc001iij.3	+	14	5087_5088	c.4462_4463GG>AA	c.(4462-4464)gga>AAa	p.G1488K	FAM208B_uc001iik.3_Missense_Mutation_p.G332K	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	Homo sapiens family with sequence similarity 208, member B (FAM208B), mRNA.	1488																	TGATCATCCAGGAAGAACAGGT	0.441000														16			15		0	0	6.4e-05	0	0
CACNA1E	777	broad.mit.edu	37	1	181725113	181725113	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:181725113G>A	uc009wxt.3	+	28	4206	c.4011G>A	c.(4009-4011)gaG>gaA	p.E1337E	CACNA1E_uc001gow.3_Silent_p.E1337E|CACNA1E_uc009wxs.3_Silent_p.E1318E|CACNA1E_uc001gox.1_Silent_p.E563E	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1337					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TAGATCATGAGAAAAACAAGA	0.488000														46			11		0	0	0.00185496	0	0
OR2H1	26716	broad.mit.edu	37	6	29430318	29430318	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:29430318C>T	uc003nmi.3	+	2	1215	c.772C>T	c.(772-774)Ctc>Ttc	p.L258F	OR2H1_uc003nmj.1_Missense_Mutation_p.L258F|OR2H1_uc010jri.2_Missense_Mutation_p.L180F|OR2H1_uc021ytr.1_Missense_Mutation_p.L258F	NM_030883	NP_112145	Q9GZK4	OR2H1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily H, member 1 (OR2H1), mRNA.	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(12)	17						TGCTGTCTACCTCCAGCCCAA	0.527000														48			32		0	0	0.00058488	0	0
USP29	57663	broad.mit.edu	37	19	57642498	57642498	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:57642498C>T	uc002qny.3	+	3	2811	c.2455C>T	c.(2455-2457)Cct>Tct	p.P819S	USP29_uc021vci.1_Missense_Mutation_p.P819S	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	819					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GATGGGGGATCCTCTCCAGGC	0.483000														30			12		0	0	0.000308642	0	0
KIAA1462	57608	broad.mit.edu	37	10	30336558	30336558	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:30336558C>T	uc009xle.2	-	1	321	c.184G>A	c.(184-186)Ggg>Agg	p.G62R	KIAA1462_uc001iux.3_Missense_Mutation_p.G62R|KIAA1462_uc001iuy.3_Missense_Mutation_p.G62R|KIAA1462_uc001iuz.3_5'UTR	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	62								p.A61A(1)		breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TGTCCTTTCCCCGCGGACGTC	0.677000														23			15		0	0	0.000219431	0	0
LTF	4057	broad.mit.edu	37	3	46479494	46479494	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:46479494C>T	uc003cpq.3	-	15	2276	c.2035G>A	c.(2035-2037)Gaa>Aaa	p.E679K	LTF_uc003fzr.3_Missense_Mutation_p.E635K|LTF_uc010hjh.3_Missense_Mutation_p.E677K|LTF_uc003cpr.3_Missense_Mutation_p.E666K	NM_002343	NP_001186078	P02788	TRFL_HUMAN	Homo sapiens lactotransferrin (LTF), transcript variant 1, mRNA.	679	Transferrin-like 2.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity	p.E679K(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	AAATATTTTTCATATGTTGTT	0.453000														117			60		0	0	0.000781405	0	0
SRCIN1	80725	broad.mit.edu	37	17	36708269	36708269	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:36708269G>A	uc002hqd.3	-	13	2805	c.2580C>T	c.(2578-2580)ttC>ttT	p.F860F	SRCIN1_uc002hqf.1_Silent_p.F732F|SRCIN1_uc002hqe.2_Silent_p.F714F|SRCIN1_uc002hqg.3_Silent_p.F166F	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN	Homo sapiens SRC kinase signaling inhibitor 1 (SRCIN1), mRNA.	732	Pro-rich.				exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding	p.F860V(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						GTGGCATTTCGAAGTCCACGC	0.622000														54			29		0	0	0.000814825	0	0
SLC25A42	284439	broad.mit.edu	37	19	19218738	19218738	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:19218738C>T	uc002nlf.2	+	6	689	c.533C>T	c.(532-534)tCg>tTg	p.S178L		NM_178526	NP_848621	Q86VD7	S2542_HUMAN	Homo sapiens solute carrier family 25, member 42 (SLC25A42), mRNA.	178					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			ATCCGCATCTCGAGAGAAGAG	0.577000														83			50		0	0	0.000781405	0	0
MORC1	27136	broad.mit.edu	37	3	108682428	108682428	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:108682428C>T	uc003dxl.3	-	26	2719	c.2632G>A	c.(2632-2634)Gaa>Aaa	p.E878K	MORC1_uc011bhn.2_Missense_Mutation_p.E857K	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	878					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	p.E878D(1)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						ATTTTTTTTTCATATTGGACC	0.279000														30			10		0	0	0.00185496	0	0
CCNK	8812	broad.mit.edu	37	14	99969075	99969075	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:99969075G>A	uc001ygi.4	+	7	895	c.765G>A	c.(763-765)ctG>ctA	p.L255L		NM_001099402	NP_001092872	O75909	CCNK_HUMAN	Homo sapiens cyclin K (CCNK), mRNA.	255					cell division|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein kinase binding			NS(1)|endometrium(2)|lung(3)	6		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)				ACCAAATCCTGGATCTTTACT	0.403000														26			19		0	0	0.00188189	0	0
EP400	57634	broad.mit.edu	37	12	132529956	132529956	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:132529956C>T	uc001ujn.3	+	37	7029	c.6877C>T	c.(6877-6879)Cgc>Tgc	p.R2293C	EP400_uc021rgq.1_Missense_Mutation_p.R2292C|EP400_uc001ujm.3_Missense_Mutation_p.R2212C	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	2329					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TCTGAAAATTCGCAGAGAGGG	0.577000														30			12		0	0	0.00136819	0	0
TMIGD2	126259	broad.mit.edu	37	19	4292617	4292617	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:4292617G>A	uc002lzx.2	-	4	874	c.828C>T	c.(826-828)ttC>ttT	p.F276F	TMIGD2_uc021umz.1_Missense_Mutation_p.S160F|TMIGD2_uc021una.1_Missense_Mutation_p.S108F|TMIGD2_uc010dtv.2_Silent_p.F272F	NM_144615	NP_653216	Q96BF3	TMIG2_HUMAN	Homo sapiens transmembrane and immunoglobulin domain containing 2 (TMIGD2), transcript variant 1, mRNA.	276	Pro-rich.					integral to membrane		p.G275R(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		CCACTTTGGGGAACCCTTTTG	0.637000														76			31		0	0	0.000692331	0	0
ARID1A	8289	broad.mit.edu	37	1	27057884	27057884	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:27057884C>T	uc001bmv.1	+	2	1965	c.1592C>T	c.(1591-1593)cCg>cTg	p.P531L	ARID1A_uc001bmt.1_Missense_Mutation_p.P531L|ARID1A_uc001bmu.1_Missense_Mutation_p.P531L|ARID1A_uc001bmw.1_Missense_Mutation_p.P148L	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	531					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.P531L(2)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CAGCAGTCCCCGGCTCCATAC	0.622000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""									75			42		0	0	0.000781405	0	0
DNAH5	1767	broad.mit.edu	37	5	13894774	13894774	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:13894774T>A	uc003jfd.2	-	15	2458	c.2416A>T	c.(2416-2418)Act>Tct	p.T806S		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	806	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTTGCAAAAGTGTTTTCTAAA	0.388000									Kartagener syndrome					26			17		0	0	0.00152264	0	0
ZNF169	169841	broad.mit.edu	37	9	97062188	97062188	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:97062188C>T	uc022bki.1	+	3	406	c.351C>T	c.(349-351)ccC>ccT	p.P117P	ZNF169_uc004aum.1_Silent_p.P116P	NM_194320	NP_919301	Q14929	ZN169_HUMAN	Homo sapiens zinc finger protein 169 (ZNF169), mRNA.	116						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				GTGGCCATCCCACACAGATCT	0.517000														39			32		0	0	0.000491102	0	0
CA13	377677	broad.mit.edu	37	8	86163020	86163020	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr8:86163020C>T	uc003ydg.2	+	1	431	c.89C>T	c.(88-90)tCt>tTt	p.S30F	CA13_uc003ydf.1_Non-coding_Transcript	NM_198584	NP_940986	Q8N1Q1	CAH13_HUMAN	Homo sapiens carbonic anhydrase XIII (CA13), mRNA.	30					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding			large_intestine(1)|lung(6)	7						GATCAGCAATCTCCAATTGAG	0.368000														72			35		0	0	0.000953801	0	0
MYH11	4629	broad.mit.edu	37	16	15931849	15931849	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:15931849C>T	uc002ddx.3	-	1	368	c.261G>A	c.(259-261)gtG>gtA	p.V87V	MYH11_uc002ddv.3_Silent_p.V87V|MYH11_uc002ddw.3_Silent_p.V87V|MYH11_uc002ddy.3_Silent_p.V87V|MYH11_uc010bvg.3_5'UTR|MYH11_uc002deb.3_Silent_p.V87V	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	87	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CCATGTCCTCCACCTTGGAGA	0.542000			T	CBFB	AML									72			44		0	0	0.000509022	0	0
CPNE5	57699	broad.mit.edu	37	6	36714266	36714266	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:36714266G>A	uc003omr.1	-	15	1174	c.1107C>T	c.(1105-1107)atC>atT	p.I369I	CPNE5_uc003omp.1_Silent_p.I77I|CPNE5_uc010jwn.1_Silent_p.I19I|CPNE5_uc003omq.1_Silent_p.I19I	NM_020939	NP_065990	Q9HCH3	CPNE5_HUMAN	Homo sapiens copine V (CPNE5), mRNA.	369	VWFA.									central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						AGTGCTGGATGATCTCTCCGA	0.617000														28			27		0	0	0.001512	0	0
DNAH10	196385	broad.mit.edu	37	12	124325937	124325937	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:124325937G>A	uc001uft.4	+	28	4876	c.4851G>A	c.(4849-4851)atG>atA	p.M1617I		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1617	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.M209I(1)|p.M1617I(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGTCCGCGATGATTTCAGCAG	0.502000														129			101		0	0	0.000781405	0	0
CACNA1E	777	broad.mit.edu	37	1	181721289	181721289	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:181721289G>A	uc009wxt.3	+	26	3937	c.3742G>A	c.(3742-3744)Gga>Aga	p.G1248R	CACNA1E_uc001gow.3_Missense_Mutation_p.G1248R|CACNA1E_uc009wxs.3_Missense_Mutation_p.G1229R|CACNA1E_uc001gox.1_Missense_Mutation_p.G474R	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1248					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AACCAACAAAGGACGGGACAT	0.478000														61			32		0	0	0.000814825	0	0
KAT2B	8850	broad.mit.edu	37	3	20178515	20178515	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:20178515G>A	uc003cbq.3	+	11	2277	c.1831G>A	c.(1831-1833)Gaa>Aaa	p.E611K		NM_003884	NP_003875	Q92831	KAT2B_HUMAN	Homo sapiens K(lysine) acetyltransferase 2B (KAT2B), mRNA.	611	N-acetyltransferase.				N-terminal peptidyl-lysine acetylation|cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|PCAF complex|chromatin remodeling complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						ATATGCAGATGAATATGCAAT	0.383000														31			20		0	0	0.00229938	0	0
CLK1	1195	broad.mit.edu	37	2	201718717	201718717	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:201718717C>T	uc002uwe.2	-	12	1402	c.1221_splice	c.e12-1	p.R407_splice	CLK1_uc010zhi.1_Splice_Site_p.R449_splice|CLK1_uc002uwf.2_Splice_Site_p.R181_splice|CLK1_uc002uwg.2_Splice_Site_p.R256_splice	NM_004071	NP_004062	P49759	CLK1_HUMAN	Homo sapiens CDC-like kinase 1 (CLK1), transcript variant 1, mRNA.	407	Protein kinase.				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						TTTACGTTTCCTAAAAATAAG	0.368000														45			29		0	0	0.001512	0	0
PLXDC2	84898	broad.mit.edu	37	10	20453417	20453417	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:20453417G>A	uc001iqg.1	+	6	1441	c.804G>A	c.(802-804)caG>caA	p.Q268Q	PLXDC2_uc001iqh.1_Silent_p.Q219Q|PLXDC2_uc009xkc.1_Non-coding_Transcript	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	Homo sapiens plexin domain containing 2 (PLXDC2), mRNA.	268						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						TGGTCACACAGATAAGTTCAA	0.423000														20			10		0	0	0.000978159	0	0
SMARCAL1	50485	broad.mit.edu	37	2	217279598	217279598	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:217279598C>T	uc002vgc.4	+	2	501	c.171C>T	c.(169-171)ttC>ttT	p.F57F	SMARCAL1_uc002vgd.4_Silent_p.F57F|SMARCAL1_uc010fvg.3_Silent_p.F57F	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1), transcript variant 1, mRNA.	57					DNA metabolic process|chromatin modification|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		CCCAAAATTTCCCAAGGGAGT	0.498000									Schimke Immuno-Osseous Dysplasia					84			57		0	0	0.000781405	0	0
SYT1	6857	broad.mit.edu	37	12	79611408	79611408	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:79611408G>A	uc001sys.3	+	4	780	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K	SYT1_uc001syt.3_Missense_Mutation_p.E37K|SYT1_uc001syu.3_Missense_Mutation_p.E37K|SYT1_uc001syv.3_Missense_Mutation_p.E37K	NM_001135805	NP_005630	P21579	SYT1_HUMAN	Homo sapiens synaptotagmin I (SYT1), transcript variant 2, mRNA.	37					detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						AGAAGGAAAGGAAGATGCATT	0.468000														34			8		0	0	0.000442599	0	0
LGR5	8549	broad.mit.edu	37	12	71977897	71977897	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:71977897G>A	uc001swl.3	+	17	2155	c.2107G>A	c.(2107-2109)Ggc>Agc	p.G703S	LGR5_uc001swm.3_Missense_Mutation_p.G679S|LGR5_uc021rar.1_Missense_Mutation_p.G631S|LGR5_uc001swn.1_Intron	NM_003667	NP_003658	O75473	LGR5_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA.	703						integral to plasma membrane	protein-hormone receptor activity	p.G702S(1)	NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						CCTGCTGGGTGGCAGCAAGTA	0.537000														178			125		0	0	0.000781405	0	0
OR5K1	26339	broad.mit.edu	37	3	98189267	98189267	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:98189267C>T	uc003dsm.3	+	0	847	c.847C>T	c.(847-849)Ccc>Tcc	p.P283S		NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 1 (OR5K1), mRNA.	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AATAGTAGTTCCCTTACTAAA	0.308000														19			15		0	0	0.00074312	0	0
PLXNB1	5364	broad.mit.edu	37	3	48462730	48462730	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:48462730C>T	uc003csw.2	-	7	1987	c.1717G>A	c.(1717-1719)Ggg>Agg	p.G573R	PLXNB1_uc003csu.2_Missense_Mutation_p.G573R|PLXNB1_uc003csx.2_Missense_Mutation_p.G573R|PLXNB1_uc010hjx.1_Non-coding_Transcript	NM_002673	NP_002664	O43157	PLXB1_HUMAN	Homo sapiens plexin B1 (PLXNB1), transcript variant 1, mRNA.	573					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	p.G573V(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGATGTTCCCCAAAGTGGCAG	0.612000														33			32		0	0	0.00128727	0	0
YTHDC2	64848	broad.mit.edu	37	5	112920076	112920076	+	Missense_Mutation	SNP	G	A	A	rs149701893		TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:112920076G>A	uc003kqn.3	+	25	3927	c.3725G>A	c.(3724-3726)cGa>cAa	p.R1242Q		NM_022828	NP_073739	Q9H6S0	YTDC2_HUMAN	Homo sapiens YTH domain containing 2 (YTHDC2), mRNA.	1242							ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		CATCCTAAACGAGGTACTGAG	0.448000														35			28		0	0	0.000878237	0	0
HARS	3035	broad.mit.edu	37	5	140056669	140056670	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:140056669_140056670CC>TT	uc003lgv.3	-	8	937_938	c.855_856GG>AA	c.(853-858)caggat>caAAat	p.D286N	HARS_uc003lgu.3_Missense_Mutation_p.D217N|HARS_uc011czm.2_Missense_Mutation_p.D246N|HARS_uc003lgw.3_Missense_Mutation_p.D266N|HARS_uc011czn.2_Missense_Mutation_p.D226N|HARS_uc011czo.2_Missense_Mutation_p.D212N|HARS_uc011czp.2_Missense_Mutation_p.D172N|HARS_uc011czq.2_Missense_Mutation_p.D176N	NM_002109	NP_002100	P12081	SYHC_HUMAN	Homo sapiens histidyl-tRNA synthetase (HARS), mRNA.	286					histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	AGTTTAGGATCCTGGAGCAGCT	0.510000														142			85		0	0	6.4e-05	0	0
MED1	5469	broad.mit.edu	37	17	37580045	37580045	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:37580045G>A	uc002hrv.4	-	11	1093	c.881C>T	c.(880-882)gCc>gTc	p.A294V	MED1_uc010wee.2_Missense_Mutation_p.A122V|MED1_uc002hru.2_Missense_Mutation_p.A294V	NM_004774	NP_004765	Q15648	MED1_HUMAN	Homo sapiens mediator complex subunit 1 (MED1), mRNA.	294	Interaction with ESR1.|Interaction with the Mediator complex and THRA.|Interaction with the Mediator complex.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		AACACTGTTGGCACTGGTGAT	0.428000										HNSCC(31;0.082)				56			16		0	0	0.000958276	0	0
OR51G2	81282	broad.mit.edu	37	11	4936324	4936324	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:4936324C>T	uc001lzr.1	-	0	570	c.570G>A	c.(568-570)atG>atA	p.M190I		NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 2 (OR51G2), mRNA.	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGGCCAATTTCATCACTTCTT	0.448000														18			8		0	0	0.000157383	0	0
PCDHB1	29930	broad.mit.edu	37	5	140432252	140432252	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:140432252G>A	uc003lik.1	+	0	1274	c.1197G>A	c.(1195-1197)ggG>ggA	p.G399G		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	399	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTACATTTGGGAATTCTTACT	0.473000														60			24		0	0	0.000586117	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457572	110457572	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr8:110457572A>T	uc003yne.3	+	37	5578	c.5474A>T	c.(5473-5475)aAc>aTc	p.N1825I		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1825	IPT/TIG 10.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GCTCTGGGAAACCTGACTGTC	0.483000										HNSCC(38;0.096)				27			19		0	0	0.00074312	0	0
C9orf131	138724	broad.mit.edu	37	9	35044877	35044877	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:35044877G>A	uc003zvw.3	+	1	2280	c.2251G>A	c.(2251-2253)Gga>Aga	p.G751R	C9orf131_uc003zvu.3_Missense_Mutation_p.G703R|C9orf131_uc003zvv.3_Missense_Mutation_p.G678R|C9orf131_uc003zvx.3_Missense_Mutation_p.G716R	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA.	751										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			TCTACCCAAGGGAGTAACGTG	0.607000														37			23		0	0	0.000375601	0	0
CDC25A	993	broad.mit.edu	37	3	48200940	48200940	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:48200940C>T	uc003csh.1	-	13	1692	c.1328G>A	c.(1327-1329)cGg>cAg	p.R443Q	CDC25A_uc003csi.1_Missense_Mutation_p.R403Q|CDC25A_uc021wxk.1_Missense_Mutation_p.R402Q	NM_001789	NP_001780	P30304	MPIP1_HUMAN	Homo sapiens cell division cycle 25 homolog A (S. pombe) (CDC25A), transcript variant 1, mRNA.	443	Rhodanese.				DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|mitosis|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity	p.R443W(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		TCTCACATACCGGCACCTAGT	0.512000														22			16		0	0	0.000422831	0	0
RAI14	26064	broad.mit.edu	37	5	34823975	34823975	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:34823975C>T	uc003jis.3	+	16	2576	c.2037C>T	c.(2035-2037)atC>atT	p.I679I	RAI14_uc003jir.3_Silent_p.I676I|RAI14_uc010iur.3_Silent_p.I647I|RAI14_uc011coj.2_Silent_p.I676I|RAI14_uc003jit.3_Silent_p.I676I|RAI14_uc011cok.2_Silent_p.I668I	NM_001145525	NP_001138997	Q9P0K7	RAI14_HUMAN	Homo sapiens retinoic acid induced 14 (RAI14), transcript variant 6, mRNA.	676						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					CTGAATATATCCATAAAGCAG	0.448000														37			23		0	0	0.000720815	0	0
SOX7	83595	broad.mit.edu	37	8	10583712	10583712	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr8:10583712G>A	uc011kwz.2	-	5	892	c.859C>T	c.(859-861)Ccc>Tcc	p.P287S	SOX7_uc003wtf.3_Missense_Mutation_p.P235S	NM_031439	NP_113627	Q9BT81	SOX7_HUMAN	Homo sapiens SRY (sex determining region Y)-box 7 (SOX7), mRNA.	235	Sox C-terminal.				endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		GGCAGGTGGGGGATGCGGCGG	0.692000														12			18		0	0	0.000720815	0	0
MUC16	94025	broad.mit.edu	37	19	9090722	9090722	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:9090722G>A	uc002mkp.3	-	0	1297	c.1093C>T	c.(1093-1095)Ctt>Ttt	p.L365F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	365	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGAAGGTAAGGATAGTCTCT	0.498000														13			9		0	0	0.000274275	0	0
CCDC158	339965	broad.mit.edu	37	4	77317607	77317607	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:77317607G>A	uc003hkb.4	-	2	256	c.103C>T	c.(103-105)Cgt>Tgt	p.R35C	CCDC158_uc003hkd.3_Missense_Mutation_p.R35C	NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	35										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						ATTGTACCACGAATAGATGAC	0.318000														44			28		0	0	0.000491102	0	0
PEG3	5178	broad.mit.edu	37	19	57329130	57329130	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:57329130G>A	uc002qnu.2	-	5	1197	c.846C>T	c.(844-846)taC>taT	p.Y282Y	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_5'UTR|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Intron|PEG3_uc002qnv.2_Silent_p.Y282Y|PEG3_uc002qnw.2_Silent_p.Y158Y|PEG3_uc002qnx.2_Silent_p.Y156Y|PEG3_uc010etr.2_Silent_p.Y282Y	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	282					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TGGTGCTTGGGTAGGCACTTC	0.517000														25			18		0	0	0.000958276	0	0
CPAMD8	27151	broad.mit.edu	37	19	17091331	17091331	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:17091331G>A	uc002nfb.3	-	13	1734	c.1702C>T	c.(1702-1704)Cgt>Tgt	p.R568C		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	521						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TGTGTTAAACGAATCGGTTTC	0.592000														34			24		0	0	0.00106085	0	0
OR8B4	283162	broad.mit.edu	37	11	124294185	124294185	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:124294185C>T	uc010sak.2	-	0	583	c.583G>A	c.(583-585)Gag>Aag	p.E195K		NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 4 (OR8B4), mRNA.	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AATACCAGCTCACTGACATGG	0.473000														9			6		0	0	0.000157383	0	0
RBM25	58517	broad.mit.edu	37	14	73538420	73538420	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:73538420C>T	uc010ttu.2	+	2	347	c.71C>T	c.(70-72)cCg>cTg	p.P24L	RBM25_uc001xnn.4_Missense_Mutation_p.P24L|RBM25_uc001xno.3_Missense_Mutation_p.P24L|RBM25_uc001xnp.3_5'UTR	NM_021239	NP_067062	P49756	RBM25_HUMAN	Homo sapiens RNA binding motif protein 25 (RBM25), mRNA.	24					RNA splicing|apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding	p.P24P(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		ATCCCACCCCCGCAGTTTCCA	0.448000														45			29		0	0	0.000491102	0	0
LAMC1	3915	broad.mit.edu	37	1	183111717	183111717	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:183111717C>T	uc001gpy.4	+	27	4879	c.4622C>T	c.(4621-4623)aCc>aTc	p.T1541I		NM_002293	NP_002284	P11047	LAMC1_HUMAN	Homo sapiens laminin, gamma 1 (formerly LAMB2) (LAMC1), mRNA.	1541	Domain II and I.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATTGAAGGCACCCTAAACAAA	0.453000														30			13		0	0	0.00185496	0	0
ATF7IP	55729	broad.mit.edu	37	12	14578282	14578282	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:14578282C>T	uc001rbw.3	+	1	1591	c.1433C>T	c.(1432-1434)cCa>cTa	p.P478L	ATF7IP_uc010shs.1_Missense_Mutation_p.P478L|ATF7IP_uc001rbu.3_Missense_Mutation_p.P478L|ATF7IP_uc001rbv.1_Missense_Mutation_p.P478L|ATF7IP_uc001rbx.3_Missense_Mutation_p.P478L|ATF7IP_uc010sht.1_Missense_Mutation_p.P478L|ATF7IP_uc001rby.4_Missense_Mutation_p.P478L|ATF7IP_uc001rbz.1_Missense_Mutation_p.P478L|ATF7IP_uc001rca.3_Missense_Mutation_p.P478L|ATF7IP_uc001rcb.3_Missense_Mutation_p.P89L	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	Homo sapiens activating transcription factor 7 interacting protein (ATF7IP), mRNA.	478	Glu-rich.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TTTGGTTCACCATCTAAACAA	0.378000														36			22		0	0	0.000720815	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48873824	48873824	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:48873824G>A	uc002rwp.2	+	7	2847	c.2733G>A	c.(2731-2733)agG>agA	p.R911R	STON1-GTF2A1L_uc021vhf.1_Silent_p.R911R|STON1-GTF2A1L_uc010yol.2_Silent_p.R864R|STON1-GTF2A1L_uc002rws.2_Silent_p.R207R|STON1-GTF2A1L_uc010yom.2_Silent_p.R173R	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	864					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CAGTAGATAGGAAACACTTAG	0.413000														33			25		0	0	0.000720815	0	0
INCENP	3619	broad.mit.edu	37	11	61908274	61908274	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:61908274C>T	uc001nsw.1	+	8	1644	c.1442C>T	c.(1441-1443)tCa>tTa	p.S481L	INCENP_uc009ynw.1_Missense_Mutation_p.S481L|INCENP_uc001nsx.1_Missense_Mutation_p.S481L	NM_001040694	NP_001035784	Q9NQS7	INCE_HUMAN	Homo sapiens inner centromere protein antigens 135/155kDa (INCENP), transcript variant 1, mRNA.	481					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						ACCCCTTCCTCACCCTGCCCA	0.667000														17			15		0	0	0.00074312	0	0
MIA2	117153	broad.mit.edu	37	14	39706219	39706219	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:39706219T>G	uc001wux.3	+	1	403	c.209T>G	c.(208-210)gTt>gGt	p.V70G	MIA2_uc010amy.2_Missense_Mutation_p.L2V	NM_054024	NP_473365	Q96PC5	MIA2_HUMAN	Homo sapiens melanoma inhibitory activity 2 (MIA2), mRNA.	70	SH3.					extracellular region				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		TCTGTTTATGTTAAACTTGCA	0.378000														18			13		0	0	0.00185496	0	0
RBM12	10137	broad.mit.edu	37	20	34242629	34242629	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:34242629G>A	uc021wcr.1	-	0	616	c.616C>T	c.(616-618)Ccc>Tcc	p.P206S	CPNE1_uc010zvj.2_5'Flank|CPNE1_uc002xde.3_Intron|CPNE1_uc002xdf.3_Intron|CPNE1_uc002xdi.3_Intron|CPNE1_uc002xdj.3_Intron|CPNE1_uc002xdl.3_Intron|CPNE1_uc002xdm.3_Intron|CPNE1_uc010gfk.2_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdq.3_Missense_Mutation_p.P206S|RBM12_uc002xds.3_Missense_Mutation_p.P206S|RBM12_uc002xdr.3_Missense_Mutation_p.P206S|RBM12_uc021wcq.1_Missense_Mutation_p.P206S	NM_152838	NP_690051	Q9NTZ6	RBM12_HUMAN	Homo sapiens RNA binding motif protein 12 (RBM12), transcript variant 2, mRNA.	206	Pro-rich.					nucleus	RNA binding|nucleotide binding|protein binding	p.I205N(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			GGAATTGGGGGAATGGATGGC	0.577000														78			19		0	0	0.00152264	0	0
HIP1R	9026	broad.mit.edu	37	12	123343612	123343612	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:123343612C>T	uc001udj.1	+	21	2222	c.2163C>T	c.(2161-2163)ctC>ctT	p.L721L	HIP1R_uc001udk.1_5'UTR	NM_003959	NP_003950	O75146	HIP1R_HUMAN	Homo sapiens huntingtin interacting protein 1 related (HIP1R), mRNA.	721					receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		CCCCAGGCCTCATAGACACCT	0.672000														3			4		0	0	0.00024832	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102452744	102452744	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:102452744C>T	uc001yks.2	+	7	2346	c.2182C>T	c.(2182-2184)Cga>Tga	p.R728*		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	728	Interaction with DYNC1LI2 (By similarity).|Stem (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GGTTCGGGGCCGAACTGGAAA	0.517000														27			20		0	0	0.00188189	0	0
IL31RA	133396	broad.mit.edu	37	5	55212722	55212722	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:55212722C>T	uc003jql.3	+	14	2261	c.2069C>T	c.(2068-2070)cCa>cTa	p.P690L	IL31RA_uc003jqm.3_Intron|IL31RA_uc003jqn.3_Intron|IL31RA_uc021xyq.1_Missense_Mutation_p.P671L|IL31RA_uc003jqo.3_Missense_Mutation_p.P548L	NM_139017	NP_001229568	Q8NI17	IL31R_HUMAN	Homo sapiens interleukin 31 receptor A (IL31RA), transcript variant 1, mRNA.	658					JAK-STAT cascade|MAPKKK cascade|anti-apoptosis|defense response|homeostatic process|macrophage differentiation|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				GAGGAGCTCCCAGTTTCACCT	0.522000														33			22		0	0	0.00229938	0	0
VSIG2	23584	broad.mit.edu	37	11	124617497	124617497	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:124617497G>A	uc001qas.3	-	6	994	c.918C>T	c.(916-918)ttC>ttT	p.F306F		NM_014312	NP_055127	Q96IQ7	VSIG2_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 2 (VSIG2), mRNA.	306						integral to plasma membrane|membrane fraction		p.G305R(1)		central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		GTCTTTCCAGGAACCCCTTGC	0.562000														36			18		0	0	0.00121646	0	0
APOL2	23780	broad.mit.edu	37	22	36624020	36624020	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr22:36624020G>A	uc011amm.2	-	5	823	c.780C>T	c.(778-780)ctC>ctT	p.L260L	APOL2_uc003aoz.3_Silent_p.L148L|APOL2_uc003apa.3_Silent_p.L148L	NM_145637	NP_663612	Q9BQE5	APOL2_HUMAN	Homo sapiens apolipoprotein L, 2 (APOL2), transcript variant beta, mRNA.	148					acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development	endoplasmic reticulum membrane|extracellular region	high-density lipoprotein particle binding|lipid binding|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2)	9						CAGTGTCCAAGAGCACAAAAC	0.562000														19			11		0	0	0.00136819	0	0
COL22A1	169044	broad.mit.edu	37	8	139788214	139788214	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr8:139788214C>T	uc003yvd.3	-	15	2245	c.1798G>A	c.(1798-1800)Gaa>Aaa	p.E600K		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	600	Collagen-like 3.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			AATACCTTTTCTCCTCGAGTT	0.483000										HNSCC(7;0.00092)				44			25		0	0	0.001512	0	0
LIMK1	3984	broad.mit.edu	37	7	73513457	73513457	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:73513457T>G	uc003uaa.2	+	4	711	c.497T>G	c.(496-498)gTg>gGg	p.V166G	LIMK1_uc010lbl.2_Non-coding_Transcript|LIMK1_uc003uab.3_Missense_Mutation_p.V132G|LIMK1_uc003uac.1_5'UTR	NM_002314	NP_002305	P53667	LIMK1_HUMAN	Homo sapiens LIM domain kinase 1 (LIMK1), transcript variant 1, mRNA.	166	PDZ.				Rho protein signal transduction|actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)				GTCACCCTGGTGTCCATCCCA	0.647000														59			41		0	0	0.000589545	0	0
EDN3	1908	broad.mit.edu	37	20	57876604	57876604	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:57876604G>A	uc002yap.3	+	1	561	c.192G>A	c.(190-192)ggG>ggA	p.G64G	EDN3_uc002yao.1_Silent_p.G64G|EDN3_uc002yaq.3_Silent_p.G64G|EDN3_uc002yar.3_Silent_p.G64G|EDN3_uc002yas.3_Silent_p.G64G	NM_000114	NP_996917	P14138	EDN3_HUMAN	Homo sapiens endothelin 3 (EDN3), transcript variant 1, mRNA.	64					cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of MAP kinase activity|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					CTGGCGAGGGGACTGTGGCCC	0.711000														12			38		0	0	0.000814825	0	0
LTK	4058	broad.mit.edu	37	15	41799333	41799333	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:41799333C>T	uc001zoa.3	-	10	1679	c.1501G>A	c.(1501-1503)Ggt>Agt	p.G501S	LTK_uc001zob.3_Missense_Mutation_p.G440S|LTK_uc010ucx.1_Missense_Mutation_p.R401K|LTK_uc010bcg.2_Missense_Mutation_p.G199S	NM_002344	NP_002335	P29376	LTK_HUMAN	Homo sapiens leukocyte receptor tyrosine kinase (LTK), transcript variant 1, mRNA.	501					apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		TCGGTGACACCTGGTGGCAGA	0.567000										TSP Lung(18;0.14)				42			18		0	0	0.000958276	0	0
AMPD1	270	broad.mit.edu	37	1	115222253	115222253	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:115222253C>T	uc001efe.2	-	6	991	c.943G>A	c.(943-945)Gag>Aag	p.E315K	AMPD1_uc001eff.2_Missense_Mutation_p.E311K	NM_000036	NP_000027	P23109	AMPD1_HUMAN	Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA.	282					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	TCCTTTAACTCGTCCATCTCG	0.428000														95			75		0	0	0.000781405	0	0
MLL	4297	broad.mit.edu	37	11	118374107	118374107	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:118374107C>T	uc001pta.3	+	26	7514	c.7491C>T	c.(7489-7491)gtC>gtT	p.V2497V	MLL_uc001ptb.3_Silent_p.V2500V	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	2497					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		TGCCAGGAGTCCCCAAAGCTC	0.448000			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""									34			19		0	0	0.00152264	0	0
S100A9	6280	broad.mit.edu	37	1	153330863	153330863	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:153330863G>A	uc001fbq.3	+	1	147	c.104G>A	c.(103-105)gGg>gAg	p.G35E		NM_002965	NP_002956	P06702	S10A9_HUMAN	Homo sapiens S100 calcium binding protein A9 (S100A9), mRNA.	35	EF-hand 1.				cell-cell signaling	cytoplasm|cytoskeleton|nucleus|plasma membrane	calcium ion binding|protein binding|signal transducer activity			breast(1)|endometrium(1)|large_intestine(2)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTGAACCAGGGGGAATTCAAA	0.517000														29			14		0	0	0.000308642	0	0
KIAA2022	340533	broad.mit.edu	37	X	73962555	73962555	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:73962555C>T	uc004eby.3	-	2	2454	c.1837G>A	c.(1837-1839)Gaa>Aaa	p.E613K		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	613					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CTACCTGGTTCAAAGCTTTGC	0.453000														2			8		0	0	0.000157383	0	0
MYH3	4621	broad.mit.edu	37	17	10536071	10536071	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:10536071G>A	uc002gmq.2	-	33	4766	c.4678C>T	c.(4678-4680)Ctc>Ttc	p.L1560F		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	1560					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TGGATTCGGAGGATCTTGGCT	0.448000														39			78		0	0	0.000781405	0	0
TMEM245	23731	broad.mit.edu	37	9	111812631	111812631	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:111812631G>A	uc004bdt.4	-	13	2087	c.2055C>T	c.(2053-2055)agC>agT	p.S685S	TMEM245_uc022bln.1_Silent_p.S237S|TMEM245_uc004bds.4_Non-coding_Transcript	NM_032012	NP_114401	Q9H330	CI005_HUMAN	Homo sapiens chromosome 9 open reading frame 5 (C9orf5), mRNA.	685						integral to membrane											GTGGAGTCAGGCTTATCACCC	0.393000														28			17		0	0	0.00152264	0	0
RPTOR	57521	broad.mit.edu	37	17	78931465	78931465	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:78931465C>T	uc002jyt.1	+	28	4217	c.3412C>T	c.(3412-3414)Ctc>Ttc	p.L1138F	RPTOR_uc010wug.1_Missense_Mutation_p.L980F|RPTOR_uc002jyu.1_Missense_Mutation_p.L31F	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	Homo sapiens regulatory associated protein of MTOR, complex 1 (RPTOR), transcript variant 1, mRNA.	1138					TOR signaling cascade|cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|positive regulation of protein serine/threonine kinase activity	TORC1 complex|cytosol|lysosome	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						GACCGGCCTCCTCATGAGCTC	0.622000														76			110		0	0	0.000781405	0	0
TMEM92	162461	broad.mit.edu	37	17	48355984	48355985	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:48355984_48355985CC>TT	uc002iqn.2	+	3	273_274	c.163_164CC>TT	c.(163-165)ccc>TTc	p.P55F	TMEM92_uc021tzz.1_Missense_Mutation_p.P55F	NM_001168215	NP_694961	Q6UXU6	TMM92_HUMAN	Homo sapiens transmembrane protein 92 (TMEM92), transcript variant 2, mRNA.	55						integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	7						CTTCCCTGGCCCCGTGAGGTGA	0.634000														10			30		0	0	6.4e-05	0	0
ZNF362	149076	broad.mit.edu	37	1	33764608	33764608	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:33764608G>A	uc001bxc.1	+	8	1394	c.1224G>A	c.(1222-1224)acG>acA	p.T408T		NM_152493	NP_689706	Q5T0B9	ZN362_HUMAN	Homo sapiens zinc finger protein 362 (ZNF362), mRNA.	408					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CCCAGAGGACGGAGTCCCCCG	0.642000											OREG0013343	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		24			23		0	0	0.000878237	0	0
SELE	6401	broad.mit.edu	37	1	169696892	169696892	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:169696892G>A	uc001ggm.4	-	8	1613	c.1456C>T	c.(1456-1458)Cct>Tct	p.P486S	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	486	Sushi 5.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					TGGCAGGAAGGAACCTCTTCT	0.448000														98			43		0	0	0.000781405	0	0
CUEDC1	404093	broad.mit.edu	37	17	55950091	55950091	+	Silent	SNP	G	A	A	rs148211596	byFrequency	TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:55950091G>A	uc002ivd.1	-	4	1436	c.717C>T	c.(715-717)ttC>ttT	p.F239F	CUEDC1_uc002ive.1_Silent_p.F239F	NM_017949	NP_060419	Q9NWM3	CUED1_HUMAN	Homo sapiens CUE domain containing 1 (CUEDC1), mRNA.	239										endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						CGTTCTGCAGGAAAAGCGCGA	0.637000														70			36		0	0	0.00148497	0	0
DNTT	1791	broad.mit.edu	37	10	98092170	98092170	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:98092170G>A	uc001kmf.3	+	8	1346	c.1176G>A	c.(1174-1176)agG>agA	p.R392R	DNTT_uc001kmg.3_Silent_p.R392R	NM_004088	NP_004079	P04053	TDT_HUMAN	Homo sapiens deoxynucleotidyltransferase, terminal (DNTT), transcript variant 1, mRNA.	392	Mediates interaction with DNTTIP2.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding	p.S391I(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		TGCCTAGCAGGAAGGTTGATG	0.423000														56			31		0	0	0.00178596	0	0
CROCC	9696	broad.mit.edu	37	1	17272860	17272860	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:17272860T>C	uc001azt.2	+	15	2312	c.2243T>C	c.(2242-2244)cTt>cCt	p.L748P	CROCC_uc009voz.1_Missense_Mutation_p.L511P|CROCC_uc001azu.2_Missense_Mutation_p.L51P	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	Homo sapiens ciliary rootlet coiled-coil, rootletin (CROCC), mRNA.	748					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		AACGAGAGCCTTGCTCAGGAC	0.652000														59			22		0	0	0.000878237	0	0
FRG1B	284802	broad.mit.edu	37	20	29628299	29628299	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:29628299A>G	uc010ztl.1	+	2	243	c.211A>G	c.(211-213)Agt>Ggt	p.S71G	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.S23G					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.											endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AGAAGCAAAAAGTAAAACAGC	0.363000														58			5		0	0	0.000602214	0	0
SUGT1	10910	broad.mit.edu	37	13	53240968	53240969	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr13:53240968_53240969CC>TT	uc001vhc.2	+	10	862_863	c.637_638CC>TT	c.(637-639)cct>TTt	p.P213F	SUGT1_uc001vhb.2_Missense_Mutation_p.P181F|SUGT1_uc010thb.1_Missense_Mutation_p.P125F	NM_001130912	NP_001124384	Q9Y2Z0	SUGT1_HUMAN	Homo sapiens SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae) (SUGT1), transcript variant 1B, mRNA.	213	CS.				mitosis	kinetochore|ubiquitin ligase complex	binding			kidney(3)|large_intestine(3)|lung(2)	8		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.25e-08)		GGTTAAACTTCCTTCTGGAGAG	0.322000														60			30		0	0	6.4e-05	0	0
GBP6	163351	broad.mit.edu	37	1	89851024	89851024	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:89851024T>C	uc001dnf.2	+	10	2172	c.1898T>C	c.(1897-1899)tTt>tCt	p.F633S	GBP6_uc010ost.1_Missense_Mutation_p.F503S	NM_198460	NP_940862	Q6ZN66	GBP6_HUMAN	Homo sapiens guanylate binding protein family, member 6 (GBP6), mRNA.	633							GTP binding|GTPase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		AAGCTCCCCTTTTAAGGATAT	0.333000														30			15		0	0	0.000566183	0	0
GALNTL1	57452	broad.mit.edu	37	14	69787427	69787427	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:69787427G>A	uc001xlb.2	+	2	505	c.178_splice	c.e2-1	p.V60_splice	GALNTL1_uc001xla.2_Splice_Site_p.V60_splice|GALNTL1_uc010aqu.2_Splice_Site_p.V60_splice	NM_020692	NP_065743	Q8N428	GLTL1_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1 (GALNTL1), transcript variant 2, mRNA.	60						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|stomach(2)	24				all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656)		CTTCATCTCAGGTGACAGGAA	0.607000														63			47		0	0	0.000781405	0	0
OR4A47	403253	broad.mit.edu	37	11	48510798	48510798	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:48510798C>T	uc010rhx.2	+	0	454	c.454C>T	c.(454-456)Ctg>Ttg	p.L152L		NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 47 (OR4A47), mRNA.	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TGGAGGATTTCTGCACTCAGT	0.428000														24			8		0	0	0.000274275	0	0
WDFY3	23001	broad.mit.edu	37	4	85731436	85731436	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:85731436C>A	uc003hpd.3	-	13	2357	c.1949G>T	c.(1948-1950)gGa>gTa	p.G650V	WDFY3_uc003hpf.3_Missense_Mutation_p.G650V	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	650						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GTACACAAATCCTCCAACTTT	0.418000														14			9		1.12685e-05	5.15536e-05	0.000274275	1	0
C7orf69	80099	broad.mit.edu	37	7	47859110	47859110	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:47859110C>T	uc003tnz.4	+	2	329	c.284C>T	c.(283-285)aCc>aTc	p.T95I	PKD1L1_uc003tny.2_Intron|C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.3_Intron	NM_025031	NP_079307	Q9H7B7	CG069_HUMAN	Homo sapiens chromosome 7 open reading frame 69 (C7orf69), mRNA.	95						extracellular region				lung(2)	2						CACAGCACCACCTACTGGCAC	0.418000														35			23		0	0	0.000586117	0	0
F11	2160	broad.mit.edu	37	4	187209625	187209625	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:187209625C>T	uc003iza.1	+	14	2068	c.1735C>T	c.(1735-1737)Ctg>Ttg	p.L579L	LOC285441_uc003izb.2_Non-coding_Transcript	NM_000128	NP_000119	P03951	FA11_HUMAN	Homo sapiens coagulation factor XI (F11), mRNA.	579	Peptidase S1.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	GGGAGGCCCTCTGTCCTGCAA	0.547000														72			56		0	0	0.000781405	0	0
SLC6A18	348932	broad.mit.edu	37	5	1239618	1239618	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:1239618C>T	uc003jby.2	+	5	909	c.786C>T	c.(784-786)ttC>ttT	p.F262F		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA.	262					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CCCAGATATTCTTCTCTCTGT	0.577000														68			38		0	0	0.000589545	0	0
GALNTL5	168391	broad.mit.edu	37	7	151716746	151716746	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:151716746C>T	uc003wkp.3	+	8	1462	c.1192C>T	c.(1192-1194)Cga>Tga	p.R398*	GALNTL5_uc010lqf.3_Nonsense_Mutation_p.R287*|GALNTL5_uc003wkq.3_Nonsense_Mutation_p.R149*|GALNTL5_uc003wkr.3_Non-coding_Transcript|GALNTL5_uc003wks.3_Non-coding_Transcript	NM_145292	NP_660335	Q7Z4T8	GLTL5_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5 (GALNTL5), transcript variant 1, mRNA.	398						Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		GTTTTTTCTTCGAAAGCCTGG	0.378000														48			34		0	0	0.00222228	0	0
ALDH1A1	216	broad.mit.edu	37	9	75531867	75531868	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:75531867_75531868GG>AA	uc004ajd.3	-	8	1320_1321	c.1003_1004CC>TT	c.(1003-1005)cct>TTt	p.P335F	ALDH1A1_uc011lsh.2_Missense_Mutation_p.P256F|ALDH1A1_uc011lsg.2_Missense_Mutation_p.P161F	NM_000689	NP_000680	P00352	AL1A1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member A1 (ALDH1A1), mRNA.	335					cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	Ras GTPase activator activity|aldehyde dehydrogenase (NAD) activity|androgen binding|retinal dehydrogenase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	TGGGGTCAGAGGATTTCCAAGG	0.416000														30			20		0	0	6.4e-05	0	0
C12orf35	55196	broad.mit.edu	37	12	32133938	32133938	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:32133938C>T	uc001rks.3	+	3	463	c.49C>T	c.(49-51)Cct>Tct	p.P17S		NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	Homo sapiens chromosome 12 open reading frame 35 (C12orf35), mRNA.	17										NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	59	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0114)			ACCACTGTATCCTAAAAGCCA	0.378000														39			16		0	0	0.000422831	0	0
NFATC3	4775	broad.mit.edu	37	16	68225340	68225340	+	Missense_Mutation	SNP	C	T	T	rs3199162		TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:68225340C>T	uc002evo.2	+	8	3084	c.2768C>T	c.(2767-2769)gCt>gTt	p.A923V	NFATC3_uc010vkl.2_Missense_Mutation_p.A444V|NFATC3_uc010vkm.2_Missense_Mutation_p.A444V|NFATC3_uc010vkn.2_Missense_Mutation_p.A444V|NFATC3_uc010vko.2_Missense_Mutation_p.A444V|NFATC3_uc010vkp.2_Missense_Mutation_p.A444V|NFATC3_uc010vkq.2_Missense_Mutation_p.A444V|NFATC3_uc002evl.3_Missense_Mutation_p.A444V|NFATC3_uc002evk.3_Missense_Mutation_p.A923V|NFATC3_uc002evm.2_Missense_Mutation_p.A923V|NFATC3_uc002evn.2_Missense_Mutation_p.A923V|NFATC3_uc010vkr.2_Missense_Mutation_p.A444V|NFATC3_uc010vks.2_Missense_Mutation_p.A444V|NFATC3_uc010vkt.2_Missense_Mutation_p.A444V|NFATC3_uc010vku.2_Missense_Mutation_p.A444V|NFATC3_uc010vkv.2_Missense_Mutation_p.A444V|NFATC3_uc010vkw.2_Missense_Mutation_p.A444V|NFATC3_uc010vkx.2_Missense_Mutation_p.A444V|NFATC3_uc010vky.2_Missense_Mutation_p.A444V|NFATC3_uc010vkz.2_Missense_Mutation_p.A444V|NFATC3_uc010vla.2_Missense_Mutation_p.A444V|NFATC3_uc010vlb.2_Missense_Mutation_p.A444V|NFATC3_uc010vlc.2_Missense_Mutation_p.A444V	NM_173165	NP_775188	Q12968	NFAC3_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3 (NFATC3), transcript variant 1, mRNA.	923				A -> V (in Ref. 3; AAB46595/AAB46596/ AAB46597).	inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		TCAGGGTCTGCTACAACAGCT	0.502000														38			34		0	0	0.0024448	0	0
BTF3P11	690	broad.mit.edu	37	13	77502725	77502725	+	RNA	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr13:77502725C>T	uc001vkb.4	+	0		c.141C>T								Homo sapiens basic transcription factor 3 pseudogene 11 (BTF3P11), non-coding RNA.																		CCCTGAAGTTCAGGCATCGCT	0.438000														13			9		0	0	0.000673444	0	0
GABRE	2564	broad.mit.edu	37	X	151124195	151124195	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:151124195C>T	uc004ffi.3	-	6	976	c.922G>A	c.(922-924)Gcc>Acc	p.A308T	GABRE_uc011myd.2_Non-coding_Transcript|GABRE_uc022cgw.1_5'Flank	NM_004961	NP_004952	P78334	GBRE_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA.	308					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GAGGTCCGGGCTGGAGCAGAC	0.527000														9			43		0	0	0.000680045	0	0
CPZ	8532	broad.mit.edu	37	4	8603046	8603046	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:8603046C>T	uc003glm.3	+	2	492	c.318C>T	c.(316-318)gcC>gcT	p.A106A	CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Silent_p.A95A|CPZ_uc003gln.3_5'UTR	NM_001014447	NP_001014448	Q66K79	CBPZ_HUMAN	Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA.	106	FZ.				Wnt receptor signaling pathway|proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CTGTGCTGGCCCCCCGGTGTG	0.687000														8			9		0	0	0.000274275	0	0
GABRB3	2562	broad.mit.edu	37	15	26793166	26793167	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:26793166_26793167CC>TT	uc001zbb.3	-	9	1466_1467	c.1363_1364GG>AA	c.(1363-1365)gga>AAa	p.G455K	GABRB3_uc021sgg.1_Missense_Mutation_p.G328K|GABRB3_uc021sgh.1_Missense_Mutation_p.G314K|GABRB3_uc001zaz.3_Missense_Mutation_p.G399K|GABRB3_uc001zba.3_Missense_Mutation_p.G399K	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	399					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity	p.G399*(2)|p.V455L(1)|p.G455*(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GTACTGGATTCCTGAGTTGTCA	0.500000														48			27		0	0	6.4e-05	0	0
POLR1B	84172	broad.mit.edu	37	2	113304673	113304673	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:113304673C>T	uc002thw.2	+	1	842	c.262C>T	c.(262-264)Cca>Tca	p.P88S	POLR1B_uc010fkn.2_Intron|POLR1B_uc002thx.2_5'UTR|POLR1B_uc010fko.2_Missense_Mutation_p.P88S|POLR1B_uc010fkp.2_Intron|POLR1B_uc002thy.2_5'UTR|POLR1B_uc010yxo.1_Intron	NM_019014	NP_061887	Q9H9Y6	RPA2_HUMAN	Homo sapiens polymerase (RNA) I polypeptide B, 128kDa (POLR1B), transcript variant 1, mRNA.	88					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	p.P88S(2)		breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						ACCTACAGTTCCAAAAGGGAC	0.453000														35			27		0	0	0.001512	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79064058	79064058	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:79064058G>A	uc002bej.4	-	14	2456	c.2245C>T	c.(2245-2247)Ctc>Ttc	p.L749F	ADAMTS7_uc010und.1_Intron|ADAMTS7_uc002bek.1_Missense_Mutation_p.L749F	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	749	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CCACCATTGAGGAAGTACTTC	0.642000														26			14		0	0	0.000308642	0	0
ARMC10	83787	broad.mit.edu	37	7	102716232	102716232	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:102716232G>T	uc003vaw.2	+	1	540	c.148G>T	c.(148-150)Gaa>Taa	p.E50*	FBXL13_uc003vaq.2_5'Flank|FBXL13_uc010lir.1_5'Flank|FBXL13_uc003var.2_5'Flank|FBXL13_uc003vas.2_5'Flank|FBXL13_uc003vav.2_5'Flank|ARMC10_uc003vay.2_Nonsense_Mutation_p.E50*|ARMC10_uc003vax.2_Intron|ARMC10_uc003vbb.2_Intron|ARMC10_uc011kli.2_Intron|ARMC10_uc010lis.2_Intron	NM_031905	NP_114111	Q8N2F6	ARM10_HUMAN	Homo sapiens armadillo repeat containing 10 (ARMC10), transcript variant A, mRNA.	50					regulation of growth	endoplasmic reticulum membrane|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	11						AGGTGCCCTGGAAGAAGGGAC	0.607000														11			9		2.17888e-05	9.95411e-05	0.000442599	1	0
CNTN4	152330	broad.mit.edu	37	3	2777901	2777901	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:2777901G>A	uc003bpc.3	+	4	397	c.58G>A	c.(58-60)Gat>Aat	p.D20N	CNTN4_uc003bpb.1_5'UTR|CNTN4_uc021wsg.1_Missense_Mutation_p.D20N|CNTN4_uc003bpd.1_Missense_Mutation_p.D20N	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	20					axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CATTTCAGATGATTCCACACT	0.348000														112			73		0	0	0.000781405	0	0
NLRP13	126204	broad.mit.edu	37	19	56424493	56424493	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:56424493C>T	uc010ygg.2	-	4	715	c.690G>A	c.(688-690)acG>acA	p.T230T		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	230	NACHT.						ATP binding	p.T230M(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CCAAGACTATCGTCTGGGCCT	0.522000														55			40		0	0	0.00195071	0	0
EPYC	1833	broad.mit.edu	37	12	91363872	91363872	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:91363872C>T	uc001tbk.3	-	5	840	c.747G>A	c.(745-747)ttG>ttA	p.L249L		NM_004950	NP_004941	Q99645	EPYC_HUMAN	Homo sapiens epiphycan (EPYC), mRNA.	249					female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						GGATGTGGTCCAAGTTGTTAT	0.443000														61			39		0	0	0.00195071	0	0
CATSPERD	257062	broad.mit.edu	37	19	5739416	5739416	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:5739416G>A	uc002mda.3	+	6	600	c.539G>A	c.(538-540)gGa>gAa	p.G180E	CATSPERD_uc010duj.1_5'UTR	NM_152784	NP_689997	Q86XM0	TM146_HUMAN	Homo sapiens transmembrane protein 146 (TMEM146), mRNA.	180						integral to membrane											AATACTGGGGGATTCAGTTTT	0.303000														75			48		0	0	0.000781405	0	0
BAZ2B	29994	broad.mit.edu	37	2	160269054	160269054	+	Silent	SNP	T	C	C			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:160269054T>C	uc002uao.3	-	13	2874	c.2469A>G	c.(2467-2469)ggA>ggG	p.G823G	BAZ2B_uc002uap.3_Silent_p.G787G|BAZ2B_uc002uaq.1_Silent_p.G653G|BAZ2B_uc002uar.1_Silent_p.G396G	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2B (BAZ2B), mRNA.	823				G -> E (in Ref. 1; BAA89212).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						ACCACTGCATTCCCTTTTAAT	0.328000														17			10		0	0	0.000673444	0	0
ZNF385B	151126	broad.mit.edu	37	2	180348096	180348096	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:180348096C>T	uc002unn.4	-	5	1177	c.573G>A	c.(571-573)acG>acA	p.T191T	ZNF385B_uc002unj.3_Silent_p.T89T|ZNF385B_uc002unl.3_Silent_p.T88T|ZNF385B_uc002unk.3_Non-coding_Transcript|ZNF385B_uc002unm.3_Silent_p.T115T	NM_152520	NP_001106869	Q569K4	Z385B_HUMAN	Homo sapiens zinc finger protein 385B (ZNF385B), transcript variant 1, mRNA.	191						nucleus	nucleic acid binding|zinc ion binding	p.T191T(2)|p.T191M(1)		breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			GTTTATTTTTCGTTGCGTCTA	0.468000														34			15		0	0	0.000422831	0	0
TTC27	55622	broad.mit.edu	37	2	33003043	33003043	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:33003043C>T	uc002rom.3	+	13	2048	c.1775C>T	c.(1774-1776)cCc>cTc	p.P592L	TTC27_uc010ymx.2_Missense_Mutation_p.P542L	NM_017735	NP_001180438	Q6P3X3	TTC27_HUMAN	Homo sapiens tetratricopeptide repeat domain 27 (TTC27), transcript variant 1, mRNA.	592							protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						ACTCTAGAACCCGATGTAAGT	0.438000														22			13		0	0	0.000219431	0	0
KDM2B	84678	broad.mit.edu	37	12	121970772	121970772	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:121970772G>A	uc001uat.3	-	7	974	c.870C>T	c.(868-870)gaC>gaT	p.D290D	KDM2B_uc001uas.3_Silent_p.D259D|KDM2B_uc021rfd.1_Silent_p.D259D|KDM2B_uc001uau.3_Silent_p.D173D|KDM2B_uc021rfe.1_Silent_p.D290D|KDM2B_uc001uav.4_Intron	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA.	290	JmjC.				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						GTTCCACACGGTCTCCCAGAA	0.527000														30			26		0	0	0.000720815	0	0
SERPINA7	6906	broad.mit.edu	37	X	105280593	105280593	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:105280593G>A	uc010npd.3	-	0	692	c.457C>T	c.(457-459)Ctc>Ttc	p.L153F	SERPINA7_uc004eme.2_Missense_Mutation_p.L153F|SERPINA7_uc010npe.2_Missense_Mutation_p.L153F	NM_000354	NP_000345	P05543	THBG_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 (SERPINA7), mRNA.	153					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	GTCTCATAGAGGGTCTTGACA	0.428000														8			35		0	0	0.000953801	0	0
NYAP2	57624	broad.mit.edu	37	2	226447249	226447249	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:226447249G>A	uc002voe.2	+	3	1291	c.1116G>A	c.(1114-1116)atG>atA	p.M372I	NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_Missense_Mutation_p.M142I	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	372	Pro-rich.																TGTCTTACATGAAACAGCCAG	0.667000														12			5		0	0	0.00116845	0	0
PTPRB	5787	broad.mit.edu	37	12	70918314	70918314	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:70918314G>A	uc001swb.4	-	30	5938	c.5908C>T	c.(5908-5910)Cgg>Tgg	p.R1970W	BC031864_uc001svz.3_Intron|PTPRB_uc010sto.2_Missense_Mutation_p.R1880W|PTPRB_uc010stp.2_Missense_Mutation_p.R1880W|PTPRB_uc001swc.4_Missense_Mutation_p.R2188W|PTPRB_uc001swa.4_Missense_Mutation_p.R2100W	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1970					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TGTTCACTCCGTAGCTTTCTT	0.438000														17			13		0	0	0.000308642	0	0
FASN	2194	broad.mit.edu	37	17	80040272	80040272	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:80040272G>A	uc002kdu.3	-	34	6055	c.5938C>T	c.(5938-5940)Ctg>Ttg	p.L1980L	FASN_uc002kdv.1_5'Flank	NM_004104	NP_004095	P49327	FAS_HUMAN	Homo sapiens fatty acid synthase (FASN), mRNA.	1980	Beta-ketoacyl reductase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	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)	TGGTTCTCCAGCAAGCCATCT	0.647000														24			11		0	0	0.00136819	0	0
TSSC1	7260	broad.mit.edu	37	2	3196249	3196249	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:3196249G>A	uc002qxj.2	-	7	1118	c.925C>T	c.(925-927)Ccc>Tcc	p.P309S	TSSC1_uc002qxi.2_Non-coding_Transcript	NM_003310	NP_003301	Q53HC9	TSSC1_HUMAN	Homo sapiens tumor suppressing subtransferable candidate 1 (TSSC1), mRNA.	309							protein binding			breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		TGGCCGAAGGGCTCCGACGAG	0.572000														39			24		0	0	0.000720815	0	0
TRPM3	80036	broad.mit.edu	37	9	73151427	73151427	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:73151427G>A	uc004aid.3	-	24	4810	c.4566C>T	c.(4564-4566)agC>agT	p.S1522S	TRPM3_uc004ahu.3_Silent_p.S1364S|TRPM3_uc004ahv.3_Silent_p.S1324S|TRPM3_uc004ahw.3_Silent_p.S1394S|TRPM3_uc004ahx.3_Silent_p.S1381S|TRPM3_uc004ahy.3_Silent_p.S1384S|TRPM3_uc004ahz.3_Silent_p.S1371S|TRPM3_uc004aia.3_Silent_p.S1369S|TRPM3_uc004aib.3_Silent_p.S1359S|TRPM3_uc004aic.3_Intron	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.	1547						integral to membrane	calcium channel activity	p.T1522T(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						AAAACATAAAGCTATGAGATT	0.458000														55			40		0	0	0.00222228	0	0
SDR42E1	93517	broad.mit.edu	37	16	82033703	82033703	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:82033703C>T	uc002fgu.3	-	2	323	c.195G>A	c.(193-195)gaG>gaA	p.E65E		NM_145168	NP_660151	Q8WUS8	D42E1_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 42E, member 1 (SDR42E1), mRNA.	65					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						GGAAGGCTTTCTCTACGTCAG	0.473000														89			42		0	0	0.00195071	0	0
GPR113	165082	broad.mit.edu	37	2	26534031	26534031	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:26534031G>A	uc002rhe.4	-	10	2565	c.2565C>T	c.(2563-2565)acC>acT	p.T855T	GPR113_uc010yky.1_Silent_p.T786T|GPR113_uc002rhb.1_Silent_p.T458T|GPR113_uc010eyk.1_Silent_p.T656T|GPR113_uc002rhc.1_Silent_p.T458T|GPR113_uc002rhd.1_Non-coding_Transcript	NM_001145168	NP_001138640	Q8IZF5	GP113_HUMAN	Homo sapiens G protein-coupled receptor 113 (GPR113), transcript variant 1, mRNA.	855					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCAGAAAAAGGTGGCCAGGT	0.617000														7			4		0	0	0.00024832	0	0
HTR2C	3358	broad.mit.edu	37	X	114141204	114141204	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:114141204C>T	uc004epu.1	+	5	1331	c.603C>T	c.(601-603)ttC>ttT	p.F201F	HTR2C_uc010nqc.1_Silent_p.F201F|HTR2C_uc004epv.1_Missense_Mutation_p.R170C	NM_000868	NP_000859	P28335	5HT2C_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2C (HTR2C), mRNA.	201					ERK1 and ERK2 cascade|cGMP biosynthetic process|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	AAAAGGTGTTCGTGAACAACA	0.448000														8			43		0	0	0.000589545	0	0
TRPV4	59341	broad.mit.edu	37	12	110232206	110232206	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:110232206G>A	uc001tpj.2	-	6	1514	c.1419C>T	c.(1417-1419)atC>atT	p.I473I	TRPV4_uc001tpg.2_Silent_p.I439I|TRPV4_uc021rdp.1_Silent_p.I413I|TRPV4_uc001tph.2_Silent_p.I426I|TRPV4_uc001tpi.2_Silent_p.I366I|TRPV4_uc001tpk.2_Silent_p.I473I	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 1, mRNA.	473					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	SH2 domain binding|actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						AGACCACGTTGATGTAGAAGG	0.617000														59			26		0	0	0.00106085	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140209885	140209885	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:140209885C>T	uc003lho.2	+	0	2236	c.2209C>T	c.(2209-2211)Ccc>Tcc	p.P737S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dab.2_Missense_Mutation_p.P737S	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	738					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.A736V(2)		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)			GGCGGACAAGCCCACGCTGGT	0.682000														24			12		0	0	0.00136819	0	0
KIF14	9928	broad.mit.edu	37	1	200559285	200559285	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:200559285C>T	uc010ppk.1	-	16	3368	c.2929G>A	c.(2929-2931)Gaa>Aaa	p.E977K	KIF14_uc010ppj.1_Missense_Mutation_p.E486K	NM_014875	NP_055690	Q15058	KIF14_HUMAN	Homo sapiens kinesin family member 14 (KIF14), mRNA.	977	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						ATTTTGCTTTCATATGCAGCT	0.378000														145			43		0	0	0.000781405	0	0
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	T	T	rs121913254		TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:115256530G>T	uc009wgu.3	-	2	435	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61K(1229)|p.Q61R(898)|p.Q61L(198)|p.Q61H(123)|p.Q61P(23)|p.Q61E(18)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60>?(2)|p.G60R(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458000	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				96			55		3.63617e-18	1.67923e-17	0.000781405	1	0
MAGI2	9863	broad.mit.edu	37	7	77708331	77708331	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:77708331G>A	uc003ugx.3	-	20	3893	c.3639C>T	c.(3637-3639)ctC>ctT	p.L1213L	MAGI2_uc003ugy.3_Silent_p.L1199L|MAGI2_uc010ldx.1_Silent_p.L806L	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	1213	PDZ 6.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CAGATTTGATGAGTTCTATTG	0.443000														89			56		0	0	0.000781405	0	0
HSP90AB4P	664618	broad.mit.edu	37	15	58985208	58985208	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:58985208G>A	uc002afh.1	-	0	117	c.117C>T	c.(115-117)tcC>tcT	p.S39S	ADAM10_uc002afd.1_Intron|ADAM10_uc010bgc.1_Intron|ADAM10_uc010ugz.1_Intron|ADAM10_uc002afe.1_Intron					Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 4, pseudogene (HSP90AB4P), non-coding RNA.																		CGTCCAACTTGGAAGGGTCTG	0.463000														20			18		0	0	0.000566183	0	0
GGTLC1	92086	broad.mit.edu	37	20	23966593	23966593	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:23966593G>A	uc002wts.3	-	3	456	c.323C>T	c.(322-324)tCc>tTc	p.S108F	GGTLC1_uc002wtu.3_Missense_Mutation_p.S108F	NM_178312	NP_842564	Q9BX51	GGTL1_HUMAN	Homo sapiens gamma-glutamyltransferase light chain 1 (GGTLC1), transcript variant B, mRNA.	108							gamma-glutamyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						CGGGCACATGGACGAGAGCGG	0.682000														56			42		0	0	0.000781405	0	0
OR13F1	138805	broad.mit.edu	37	9	107267348	107267348	+	Missense_Mutation	SNP	G	A	A	rs140352060		TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:107267348G>A	uc011lvm.2	+	0	805	c.805G>A	c.(805-807)Gaa>Aaa	p.E269K		NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily F, member 1 (OR13F1), mRNA.	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						AGATTCACAGGAAATAGACAA	0.468000														34			15		0	0	0.000308642	0	0
ACACB	32	broad.mit.edu	37	12	109671600	109671600	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:109671600C>T	uc001tob.3	+	29	4306	c.4187C>T	c.(4186-4188)aCc>aTc	p.T1396I	ACACB_uc001toc.3_Missense_Mutation_p.T1396I|ACACB_uc010sxl.1_Non-coding_Transcript|ACACB_uc001tod.3_Non-coding_Transcript|ACACB_uc010sxm.2_Missense_Mutation_p.T62I	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	1396					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	CCCAAAGACACCCCCCTCTTC	0.612000														46			16		0	0	0.00121646	0	0
UBTD2	92181	broad.mit.edu	37	5	171639158	171639158	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:171639158G>A	uc003mbp.1	-	2	507	c.381C>T	c.(379-381)atC>atT	p.I127I		NM_152277	NP_689490	Q8WUN7	UBTD2_HUMAN	Homo sapiens ubiquitin domain containing 2 (UBTD2), mRNA.	127						cytoplasm				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)	10	Renal(175;0.000159)|Lung NSC(126;0.00976)|all_lung(126;0.0156)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTATCATGTTGATTGGCGGTG	0.453000														53			33		0	0	0.00058488	0	0
FXR1	8087	broad.mit.edu	37	3	180685959	180685959	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:180685959G>T	uc003fkq.3	+	13	1559	c.1319G>T	c.(1318-1320)aGa>aTa	p.R440I	FXR1_uc003fkp.3_Missense_Mutation_p.R355I|FXR1_uc003fkr.3_Missense_Mutation_p.R440I|FXR1_uc011bqj.2_Missense_Mutation_p.R354I|FXR1_uc003fks.3_Missense_Mutation_p.R383I|FXR1_uc011bqk.2_Missense_Mutation_p.R391I|FXR1_uc011bql.2_Missense_Mutation_p.R427I	NM_005087	NP_001013457	P51114	FXR1_HUMAN	Homo sapiens fragile X mental retardation, autosomal homolog 1 (FXR1), transcript variant 1, mRNA.	440					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			GACAGCAGGAGACGCCCAGGA	0.532000														35			13		3.27435e-08	1.50234e-07	0.000219431	1	0
LNPEP	4012	broad.mit.edu	37	5	96315499	96315499	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:96315499C>T	uc003kmv.1	+	1	1191	c.677C>T	c.(676-678)tCa>tTa	p.S226L	LNPEP_uc003kmw.1_Missense_Mutation_p.S212L	NM_005575	NP_787116	Q9UIQ6	LCAP_HUMAN	Homo sapiens leucyl/cystinyl aminopeptidase (LNPEP), transcript variant 1, mRNA.	226					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		TCAGCAGTTTCAAGCCAAGAA	0.428000														9			10		0	0	0.00185496	0	0
OTOGL	283310	broad.mit.edu	37	12	80722851	80722851	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:80722851G>A	uc001szd.3	+	35	4279	c.4273G>A	c.(4273-4275)Gaa>Aaa	p.E1425K		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GATTCCCACAGAACCAACATT	0.353000														13			4		0	0	0.00198382	0	0
BIN2	51411	broad.mit.edu	37	12	51686091	51686091	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:51686091G>A	uc001ryg.3	-	9	851	c.799C>T	c.(799-801)Cga>Tga	p.R267*	BIN2_uc009zlz.3_Nonsense_Mutation_p.R235*|BIN2_uc001ryh.3_Nonsense_Mutation_p.R143*|BIN2_uc010sng.2_Nonsense_Mutation_p.R241*	NM_016293	NP_057377	Q9UBW5	BIN2_HUMAN	Homo sapiens bridging integrator 2 (BIN2), mRNA.	267						cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						GTAGCTGTTCGAACTGGGGGA	0.453000														52			41		0	0	0.000781405	0	0
MT4	84560	broad.mit.edu	37	16	56602761	56602761	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:56602761C>T	uc002eje.1	+	2	186	c.106C>T	c.(106-108)Ccc>Tcc	p.P36S		NM_032935	NP_116324	P47944	MT4_HUMAN	Homo sapiens metallothionein 4 (MT4), mRNA.	36						cytoplasm	copper ion binding|zinc ion binding	p.P36P(1)		ovary(1)|upper_aerodigestive_tract(1)	2						AGGCTGCTGTCCCTGCTGCCC	0.587000														88			39		0	0	0.00170553	0	0
LGI2	55203	broad.mit.edu	37	4	25005339	25005339	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:25005339C>T	uc003grf.2	-	7	1471	c.1372G>A	c.(1372-1374)Gct>Act	p.A458T		NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 2 (LGI2), mRNA.	458						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				GATGGAAGAGCTTGGATCTCC	0.512000														65			44		0	0	0.000680045	0	0
FAM47C	442444	broad.mit.edu	37	X	37029039	37029039	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:37029039C>T	uc004ddl.2	+	0	2608	c.2556C>T	c.(2554-2556)ctC>ctT	p.L852L		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	852										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CGAGAAAACTCCGTGACTTCA	0.463000														14			55		0	0	0.000781405	0	0
NUP210L	91181	broad.mit.edu	37	1	154072489	154072489	+	Silent	SNP	A	C	C			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:154072489A>C	uc001fdw.3	-	13	2022	c.1950T>G	c.(1948-1950)gcT>gcG	p.A650A	NUP210L_uc009woq.3_5'UTR|NUP210L_uc010peh.2_Silent_p.A650A	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	650						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GGGGTTCATAAGCAGCAAATG	0.408000														109			106		0	0	0.000781405	0	0
DGAT2	84649	broad.mit.edu	37	11	75495679	75495679	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:75495679C>T	uc001oxa.3	+	1	397	c.138C>T	c.(136-138)atC>atT	p.I46I	DGAT2_uc001oxb.3_Intron	NM_032564	NP_115953	Q96PD7	DGAT2_HUMAN	Homo sapiens diacylglycerol O-acyltransferase 2 (DGAT2), transcript variant 1, mRNA.	46					glycerol metabolic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity			endometrium(3)|large_intestine(5)|lung(5)|prostate(2)|skin(2)	17	Ovarian(111;0.103)					GATCCAGCATCCTCTCCGCCC	0.567000														38			28		0	0	0.0024448	0	0
PCLO	27445	broad.mit.edu	37	7	82544628	82544628	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:82544628G>A	uc003uhx.2	-	6	12963	c.12674C>T	c.(12673-12675)tCa>tTa	p.S4225L	PCLO_uc003uhv.2_Missense_Mutation_p.S4225L|PCLO_uc010lec.3_Missense_Mutation_p.S1190L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4156	Ser-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ACCAATAGATGAAGTGCTAGA	0.363000														13			11		0	0	0.000978159	0	0
SRMS	6725	broad.mit.edu	37	20	62175632	62175632	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:62175632C>T	uc002yfi.1	-	1	467	c.426G>A	c.(424-426)ggG>ggA	p.G142G		NM_080823	NP_543013	Q9H3Y6	SRMS_HUMAN	Homo sapiens src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites (SRMS), mRNA.	142	SH2.						ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			TGAGGAAGGCCCCTGGTTCGT	0.667000														2			8		0	0	0.000274275	0	0
SCN5A	6331	broad.mit.edu	37	3	38591832	38591832	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:38591832C>T	uc021wvo.1	-	26	6083	c.6031G>A	c.(6031-6033)Gac>Aac	p.D2011N	SCN5A_uc021wvk.1_Missense_Mutation_p.D1978N|SCN5A_uc021wvl.1_Missense_Mutation_p.D1957N|SCN5A_uc021wvm.1_Missense_Mutation_p.D1993N|SCN5A_uc021wvn.1_Missense_Mutation_p.D2010N|SCN5A_uc021wvp.1_Missense_Mutation_p.D2011N|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Missense_Mutation_p.D1823N|SCN5A_uc021wvi.1_Missense_Mutation_p.D1877N	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	2011					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GACTCACGGTCCCTGTCCGGA	0.572000														58			53		0	0	0.000781405	0	0
PPP2R2B	5521	broad.mit.edu	37	5	145969630	145969630	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:145969630G>A	uc011dbv.2	-	10	1649	c.1386C>T	c.(1384-1386)atC>atT	p.I462I	PPP2R2B_uc010jgm.3_Silent_p.I393I|PPP2R2B_uc003loe.3_Silent_p.I404I|PPP2R2B_uc003log.4_Silent_p.I404I|PPP2R2B_uc003lof.4_Silent_p.I404I|PPP2R2B_uc003loi.4_Silent_p.I407I|PPP2R2B_uc003loh.4_Silent_p.I404I|PPP2R2B_uc003lok.4_Silent_p.I393I|PPP2R2B_uc003loj.4_Silent_p.I384I|PPP2R2B_uc011dbu.2_Silent_p.I410I	NM_181675	NP_858061	Q00005	2ABB_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B, beta (PPP2R2B), transcript variant 3, mRNA.	404					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGTCGACACTGATCTCGTCTT	0.473000														67			56		0	0	0.000781405	0	0
NLGN3	54413	broad.mit.edu	37	X	70389876	70389876	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:70389876C>T	uc004dzd.2	+	7	2810	c.2476C>T	c.(2476-2478)Ccc>Tcc	p.P826S	NLGN3_uc004dzb.3_Missense_Mutation_p.P806S|NLGN3_uc011mps.2_Missense_Mutation_p.P786S|NLGN3_uc004dzc.3_Missense_Mutation_p.P689S|NLGN3_uc004dze.3_Missense_Mutation_p.P624S	NM_181303	NP_851820	Q9NZ94	NLGN3_HUMAN	Homo sapiens neuroligin 3 (NLGN3), transcript variant 1, mRNA.	826					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					GACATTGCACCCCTATAACAC	0.592000														1			6		0	0	0.00116845	0	0
FOLR3	2352	broad.mit.edu	37	11	71847002	71847002	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:71847002G>A	uc001ory.1	+	1	54	c.4G>A	c.(4-6)Gac>Aac	p.D2N	FOLR3_uc001orx.1_Missense_Mutation_p.D2N			P41439	FOLR3_HUMAN	Homo sapiens folate receptor 3 (gamma) (FOLR3), mRNA.	0					folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity			large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	GGAATAGATGGACATGGCCTG	0.607000														83			30		0	0	0.00111076	0	0
ADAM18	8749	broad.mit.edu	37	8	39587459	39587459	+	Nonstop_Mutation	SNP	A	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr8:39587459A>T	uc003xni.3	+	19	2275	c.2220A>T	c.(2218-2220)taA>taT	p.*740Y	ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Nonstop_Mutation_p.*716Y	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	0					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TGGGACATTAATATTGCACAG	0.328000														79			43		0	0	0.000781405	0	0
PDE1C	5137	broad.mit.edu	37	7	31887694	31887694	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:31887694G>A	uc003tcm.2	-	8	1329	c.868C>T	c.(868-870)Ctg>Ttg	p.L290L	PDE1C_uc003tcn.1_Silent_p.L290L|PDE1C_uc003tco.2_Silent_p.L350L|PDE1C_uc003tcr.3_Silent_p.L290L|PDE1C_uc003tcs.3_Silent_p.L290L	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	290	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TCATTATACAGAATAGCTGGA	0.388000														21			19		0	0	0.00152264	0	0
NXF4	55999	broad.mit.edu	37	X	101805040	101805040	+	RNA	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:101805040G>A	uc004ejf.1	+	0		c.148G>A								Homo sapiens nuclear RNA export factor 4 pseudogene (NXF4), non-coding RNA.											endometrium(2)|lung(8)	10						GGTTAAGGGGGATCCTGAGCA	0.537000														4			31		0	0	0.000953801	0	0
PODN	127435	broad.mit.edu	37	1	53535657	53535657	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:53535657G>A	uc001cuv.3	+	1	442	c.274G>A	c.(274-276)Gaa>Aaa	p.E92K	PODN_uc010onr.2_Missense_Mutation_p.E73K|PODN_uc010ons.2_Missense_Mutation_p.E92K|PODN_uc001cuw.3_Missense_Mutation_p.E73K	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN	Homo sapiens podocan (PODN), transcript variant 1, mRNA.	44	LRRNT.				negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CGAAGAGAACGAATTTGCGGA	0.687000														10			4		0	0	0.00116845	0	0
SSPO	23145	broad.mit.edu	37	7	149519198	149519198	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:149519198C>T	uc010lpk.3	+	89	12993	c.12993C>T	c.(12991-12993)tgC>tgT	p.C4331C	SSPO_uc010lpm.1_Non-coding_Transcript|SSPO_uc003wgg.2_Non-coding_Transcript|SSPO_uc003wgh.2_Non-coding_Transcript|SSPO_uc003wgi.1_5'Flank	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	4334	TSP type-1 21.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGGGTCCTGCCCCTGCCTGA	0.711000														32			17		0	0	0.00074312	0	0
STAB2	55576	broad.mit.edu	37	12	104031812	104031812	+	Missense_Mutation	SNP	G	A	A	rs115145720	byFrequency	TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:104031812G>A	uc001tjw.3	+	7	914	c.728G>A	c.(727-729)cGa>cAa	p.R243Q		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	243	EGF-like 4.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.R243*(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CCATGTTTACGAAAAATCTGC	0.493000														59			41		0	0	0.000781405	0	0
CCDC159	126075	broad.mit.edu	37	19	11462648	11462648	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:11462648C>T	uc010xlw.1	+	7	818	c.739_splice	c.e7+1	p.Q247_splice	CCDC159_uc010xls.2_Splice_Site_p.Q164_splice|CCDC159_uc010xlt.2_Splice_Site_p.Q164_splice|CCDC159_uc010xlv.2_Splice_Site_p.Q163_splice	NM_001080503	NP_001073972	P0C7I6	CC159_HUMAN	Homo sapiens coiled-coil domain containing 159 (CCDC159), mRNA.	279										endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	5						ATCAGAAGCTCCGTGAGTTCC	0.617000														9			7		0	0	0.00198382	0	0
GDF2	2658	broad.mit.edu	37	10	48416538	48416538	+	Silent	SNP	G	C	C			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:48416538G>C	uc001jfa.1	-	0	316	c.156C>G	c.(154-156)acC>acG	p.T52T		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	Homo sapiens growth differentiation factor 2 (GDF2), mRNA.	52					BMP signaling pathway|activin receptor signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of DNA replication|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						TCAGGTTGAAGGTGTGCTCAG	0.622000														21			17		0	0	0.00121646	0	0
OR8D2	283160	broad.mit.edu	37	11	124189444	124189444	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:124189444G>A	uc010sah.2	-	0	650	c.650C>T	c.(649-651)tCt>tTt	p.S217F		NM_001002918	NP_001002918	Q9GZM6	OR8D2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 2 (OR8D2), mRNA.	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		GAAAGCATAAGAGATAAGGAC	0.448000														18			12		0	0	0.00136819	0	0
TMEM74	157753	broad.mit.edu	37	8	109797193	109797193	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr8:109797193C>T	uc003ymy.1	-	1	240	c.135G>A	c.(133-135)caG>caA	p.Q45Q	TMEM74_uc003ymx.3_Intron|TMEM74_uc022azr.1_Silent_p.Q45Q	NM_153015	NP_694560	Q96NL1	TMM74_HUMAN	Homo sapiens transmembrane protein 74 (TMEM74), mRNA.	45					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			TGGATGCACACTGTTTCTGAC	0.547000														53			30		0	0	0.00209593	0	0
SEC23B	10483	broad.mit.edu	37	20	18507066	18507066	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:18507066C>T	uc002wra.2	+	7	1345	c.884C>T	c.(883-885)cCc>cTc	p.P295L	SEC23B_uc010zsb.2_Missense_Mutation_p.P277L|SEC23B_uc002wrb.2_Missense_Mutation_p.P295L|SEC23B_uc002wqz.2_Missense_Mutation_p.P295L|SEC23B_uc002wrc.2_Missense_Mutation_p.P295L	NM_032985	NP_116781	Q15437	SC23B_HUMAN	Homo sapiens Sec23 homolog B (S. cerevisiae) (SEC23B), transcript variant 2, mRNA.	295					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						ACTGGAGGTCCCCCTACCCAA	0.438000														24			20		0	0	0.000958276	0	0
DPY19L3	147991	broad.mit.edu	37	19	32973073	32973073	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:32973073C>T	uc002ntg.3	+	18	2276	c.2078C>T	c.(2077-2079)cCc>cTc	p.P693L	DPY19L3_uc002nth.2_Missense_Mutation_p.P693L|DPY19L3_uc002nti.2_Non-coding_Transcript|DPY19L3_uc002ntj.2_Missense_Mutation_p.P115L	NM_001172774	NP_997208	Q6ZPD9	D19L3_HUMAN	Homo sapiens dpy-19-like 3 (C. elegans) (DPY19L3), transcript variant 2, mRNA.	693						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					AACCTGCCTCCCTACGTGGCC	0.463000														109			56		0	0	0.000781405	0	0
TLR1	7096	broad.mit.edu	37	4	38799295	38799295	+	Silent	SNP	T	C	C			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:38799295T>C	uc003gtl.3	-	3	1432	c.1158A>G	c.(1156-1158)gaA>gaG	p.E386E	TLR1_uc021xnn.1_Silent_p.E386E	NM_003263	NP_003254	Q15399	TLR1_HUMAN	Homo sapiens toll-like receptor 1 (TLR1), mRNA.	386					cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	Toll-like receptor 1-Toll-like receptor 2 protein complex|integral to plasma membrane|phagocytic vesicle membrane	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TTTTTGAAAGTTCTTTTAATT	0.333000														21			13		0	0	0.00136819	0	0
ATN1	1822	broad.mit.edu	37	12	7050626	7050626	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:7050626C>A	uc001qrw.1	+	8	3685	c.3448C>A	c.(3448-3450)Ctg>Atg	p.L1150M	ATN1_uc001qrx.1_Missense_Mutation_p.L1150M|C12orf57_uc009zfj.1_5'Flank|C12orf57_uc001qrz.3_5'Flank	NM_001007026	NP_001931	P54259	ATN1_HUMAN	Homo sapiens atrophin 1 (ATN1), transcript variant 1, mRNA.	1150					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	p.E1149A(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						GTCAGCTGAGCTGCAGCGCTT	0.647000														43			32		2.47316e-13	1.13801e-12	0.00058488	1	0
FAF2	23197	broad.mit.edu	37	5	175919263	175919263	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:175919263C>T	uc003mej.4	+	4	466	c.413C>T	c.(412-414)tCa>tTa	p.S138L		NM_014613	NP_055428	Q96CS3	FAF2_HUMAN	Homo sapiens Fas associated factor family member 2 (FAF2), mRNA.	138					response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding			breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						GACATTGTTTCATTTATGCAC	0.488000														41			30		0	0	0.00178596	0	0
FAM184A	79632	broad.mit.edu	37	6	119324215	119324215	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:119324215C>T	uc003pyj.3	-	9	2286	c.1938_splice	c.e9-1	p.R646_splice	FAM184A_uc003pyk.4_Splice_Site_p.R526_splice|FAM184A_uc003pyl.4_Splice_Site_p.R526_splice	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	Homo sapiens family with sequence similarity 184, member A (FAM184A), transcript variant 1, mRNA.	646										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						ACACTCTTGTCTAAAATAAAA	0.338000														10			17		0	0	0.00188189	0	0
ABCC1	4363	broad.mit.edu	37	16	16177255	16177255	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:16177255G>A	uc010bvi.3	+	16	2323	c.2148G>A	c.(2146-2148)tgG>tgA	p.W716*	ABCC1_uc010bvj.3_Intron|ABCC1_uc010bvk.3_Nonsense_Mutation_p.W716*|ABCC1_uc010bvl.3_Nonsense_Mutation_p.W716*|ABCC1_uc010bvm.3_Intron|ABCC1_uc002del.4_Nonsense_Mutation_p.W600*	NM_004996	NP_004987	P33527	MRP1_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA.	716	ABC transporter 1.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	AGCAGGCCTGGATTCAGAATG	0.517000														46			24		0	0	0.000586117	0	0
GHR	2690	broad.mit.edu	37	5	42700087	42700087	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:42700087G>A	uc021xxv.1	+	5	759	c.622G>A	c.(622-624)Gaa>Aaa	p.E208K	GHR_uc003jmt.3_Missense_Mutation_p.E201K|GHR_uc003jmu.3_Missense_Mutation_p.E201K|GHR_uc003jmv.2_Missense_Mutation_p.E201K|GHR_uc021xxw.1_Missense_Mutation_p.E201K|GHR_uc021xxx.1_Missense_Mutation_p.E201K|GHR_uc021xxy.1_Missense_Mutation_p.E201K|GHR_uc021xxz.1_Missense_Mutation_p.E201K|GHR_uc021xya.1_Missense_Mutation_p.E201K|GHR_uc021xyb.1_Missense_Mutation_p.E201K|GHR_uc021xyc.1_Missense_Mutation_p.E201K|GHR_uc011cpq.2_Missense_Mutation_p.E14K|GHR_uc021xyd.1_Missense_Mutation_p.E179K	NM_001242399	NP_001229328	P10912	GHR_HUMAN	Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA.	201	Fibronectin type-III.				2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	AGAAGTAAATGAAACTAAATG	0.358000														12			6		0	0	0.00198382	0	0
PALMD	54873	broad.mit.edu	37	1	100154993	100154993	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:100154993G>A	uc001dsg.3	+	6	1620	c.1177G>A	c.(1177-1179)Gaa>Aaa	p.E393K		NM_017734	NP_060204	Q9NP74	PALMD_HUMAN	Homo sapiens palmdelphin (PALMD), mRNA.	393					regulation of cell shape	cytoplasm|membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		GGAGGACGAGGAAGATGTCAG	0.463000														13			9		0	0	0.000274275	0	0
SELL	6402	broad.mit.edu	37	1	169677719	169677719	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:169677719T>C	uc010pls.2	-	0	279	c.170A>G	c.(169-171)aAc>aGc	p.N57S	C1orf112_uc001ggj.3_Intron|SELL_uc001ggk.3_Missense_Mutation_p.N117S|SELL_uc001ggl.2_Missense_Mutation_p.N117S	NM_000655	NP_000646	P14151	LYAM1_HUMAN	Homo sapiens selectin L (SELL), transcript variant 1, mRNA.	104	C-type lectin.				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	integral to plasma membrane	glycosphingolipid binding|heparin binding|protease binding|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					AAGAGATTTGTTGGTTCCCAC	0.458000														26			6		0	0	0.00198382	0	0
ZNF709	163051	broad.mit.edu	37	19	12637887	12637887	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:12637887G>A	uc002mty.3	-	3	1245	c.1035C>T	c.(1033-1035)acC>acT	p.T345T	ZNF709_uc002mtx.4_Intron	NM_144976	NP_659413	Q8N972	ZN709_HUMAN	Homo sapiens zinc finger protein 564 (ZNF564), mRNA.	400					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						AAGAACTGAAGGTTTTACCAC	0.408000														32			17		0	0	0.00152264	0	0
NACC2	138151	broad.mit.edu	37	9	138905067	138905067	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:138905067G>A	uc004cgv.4	-	4	1389	c.1233C>T	c.(1231-1233)agC>agT	p.S411S	NACC2_uc010nbh.3_Silent_p.S50S	NM_144653	NP_653254	Q96BF6	NACC2_HUMAN	Homo sapiens NACC family member 2, BEN and BTB (POZ) domain containing (NACC2), mRNA.	411	BEN.				negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization	nuclear body				endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5						TCAGGACCCGGCTGTCCAGCG	0.682000														66			27		0	0	0.0024448	0	0
ABCA6	23460	broad.mit.edu	37	17	67110993	67110993	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:67110993G>A	uc002jhw.1	-	12	1867	c.1692C>T	c.(1690-1692)ttC>ttT	p.F564F		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	564	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity	p.F564L(2)		breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ATTGAACATTGAATTGAGGAC	0.383000														33			14		0	0	0.00185496	0	0
YPEL1	29799	broad.mit.edu	37	22	22057767	22057768	+	Splice_Site	DNP	CC	TT	TT			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr22:22057767_22057768CC>TT	uc002zvl.3	-	4	494	c.162_splice	c.e4-1	p.V54_splice	YPEL1_uc002zvm.3_Splice_Site	NM_013313	NP_037445	O60688	YPEL1_HUMAN	Homo sapiens yippee-like 1 (Drosophila) (YPEL1), mRNA.	54						nucleus				breast(1)|large_intestine(1)|lung(1)	3	Colorectal(54;0.105)					CCACGTTCACCCTGCGGGGACA	0.698000														30			16		0	0	6.4e-05	0	0
FGF5	2250	broad.mit.edu	37	4	81207508	81207508	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:81207508G>A	uc003hmd.3	+	2	726	c.489G>A	c.(487-489)agG>agA	p.R163R	FGF5_uc003hme.3_3'UTR	NM_004464	NP_004455	P12034	FGF5_HUMAN	Homo sapiens fibroblast growth factor 5 (FGF5), transcript variant 1, mRNA.	163					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						GCAAGTTCAGGGAGCGTTTTC	0.393000														83			61		0	0	0.000781405	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36278120	36278120	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:36278120C>T	uc002obs.2	+	20	2314	c.2170C>T	c.(2170-2172)Cct>Tct	p.P724S	ARHGAP33_uc002obt.2_Missense_Mutation_p.P749S|ARHGAP33_uc002obv.1_Missense_Mutation_p.P473S	NM_052948	NP_443180	O14559	RHG33_HUMAN	Homo sapiens Rho GTPase activating protein 33 (ARHGAP33), transcript variant 1, mRNA.	772					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						TCTCCTGCGCCCTGGGGGTGC	0.657000														30			16		0	0	0.00074312	0	0
GALNT4	8693	broad.mit.edu	37	12	89917791	89917791	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:89917791C>T	uc001tbd.3	-	0	793	c.536G>A	c.(535-537)aGa>aAa	p.R179K	GALNT4_uc001tba.3_Intron|GALNT4_uc001tbb.3_Intron|GALNT4_uc010sun.2_Intron|GALNT4_uc001tbc.3_Intron|GALNT4_uc001tbe.3_Missense_Mutation_p.R176K|GALNT4_uc010suo.2_Intron	NM_003774	NP_003765	Q8N4A0	GALT4_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4 (GalNAc-T4) (GALNT4), mRNA.	179	Catalytic subdomain A.				carbohydrate metabolic process	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(4)|kidney(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)	14						CAAATAAACTCTGTCACTCAA	0.443000											OREG0022018	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		43			32		0	0	0.001512	0	0
CACNA1E	777	broad.mit.edu	37	1	181767462	181767462	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:181767462C>T	uc009wxt.3	+	47	6629	c.6434C>T	c.(6433-6435)tCt>tTt	p.S2145F	CACNA1E_uc001gow.3_Missense_Mutation_p.S2102F|CACNA1E_uc009wxs.3_Missense_Mutation_p.S2083F	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	2145					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TCCATCCCCTCTGTCTCTGAC	0.572000														121			44		0	0	0.000781405	0	0
CDKL1	8814	broad.mit.edu	37	14	50807787	50807787	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:50807787C>T	uc010anu.2	-	17	2634	c.2634G>A	c.(2632-2634)tcG>tcA	p.S878S	CDKL1_uc001wxz.3_Silent_p.S207S	NM_004196	NP_004187	Q00532	CDKL1_HUMAN	Homo sapiens cyclin-dependent kinase-like 1 (CDC2-related kinase) (CDKL1), mRNA.	206						cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12	all_epithelial(31;0.000746)|Breast(41;0.0102)					GATCCACATCCGATTTTCCTG	0.542000														24			13		0	0	0.000219431	0	0
MGAM	8972	broad.mit.edu	37	7	141759659	141759659	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:141759659C>T	uc003vwy.3	+	32	4006	c.3952C>T	c.(3952-3954)Cca>Tca	p.P1318S		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1318	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATTTCAGGATCCAGCCATTTC	0.478000														8			7		0	0	0.000274275	0	0
CACHD1	57685	broad.mit.edu	37	1	65099822	65099822	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:65099822G>A	uc001dbo.1	+	6	837	c.732G>A	c.(730-732)agG>agA	p.R244R	CACHD1_uc001dbp.1_5'UTR|CACHD1_uc001dbq.1_5'UTR	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN	Homo sapiens cache domain containing 1 (CACHD1), mRNA.	295	VWFA.				calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						AGACAAAAAGGAAAATGTCCA	0.473000														33			32		0	0	0.00209593	0	0
NCOA6	23054	broad.mit.edu	37	20	33329375	33329375	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:33329375G>A	uc002xav.3	-	11	7256	c.4685C>T	c.(4684-4686)cCc>cTc	p.P1562L	NCOA6_uc002xaw.3_Missense_Mutation_p.P1562L|NCOA6_uc021wcd.1_Intron|NCOA6_uc021wce.1_Missense_Mutation_p.P1562L|NCOA6_uc021wcf.1_Intron	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	1562					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.P1562P(1)		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						ACTCAATTCGGGATGCACAAG	0.463000														77			172		0	0	0.000781405	0	0
SELP	6403	broad.mit.edu	37	1	169578856	169578856	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:169578856G>A	uc001ggi.4	-	7	1284	c.1219C>T	c.(1219-1221)Cag>Tag	p.Q407*	SELP_uc001ggh.3_Nonsense_Mutation_p.Q242*|SELP_uc009wvr.3_Nonsense_Mutation_p.Q407*	NM_003005	NP_002996	P16109	LYAM3_HUMAN	Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA.	407	Sushi 4.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	GTGTCATACTGAAACGCTCTC	0.502000														32			13		0	0	0.000219431	0	0
BAI3	577	broad.mit.edu	37	6	70037717	70037717	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:70037717C>T	uc010kak.3	+	20	3247	c.2971C>T	c.(2971-2973)Cca>Tca	p.P991S	BAI3_uc003pev.4_Missense_Mutation_p.P991S|BAI3_uc011dxx.2_Missense_Mutation_p.P197S	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	991					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TGCAGGTTTACCAGCATTAGT	0.393000														2			13		0	0	0.00185496	0	0
OR6S1	341799	broad.mit.edu	37	14	21109460	21109460	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:21109460G>A	uc001vxv.1	-	0	391	c.391C>T	c.(391-393)Cct>Tct	p.P131S		NM_001001968	NP_001001968	Q8NH40	OR6S1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily S, member 1 (OR6S1), mRNA.	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		TAGCGCAGAGGATGACAGATG	0.572000														21			4		0	0	0.000602214	0	0
DNAJC1	64215	broad.mit.edu	37	10	22048376	22048376	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:22048376G>A	uc001irc.3	-	10	1606	c.1319C>T	c.(1318-1320)gCc>gTc	p.A440V		NM_022365	NP_071760	Q96KC8	DNJC1_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 1 (DNAJC1), mRNA.	440					negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding	p.D439N(2)		cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				CCGAGGCCGGGCATCAGTGGC	0.657000														31			19		0	0	0.00152264	0	0
TMPRSS11A	339967	broad.mit.edu	37	4	68797744	68797744	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:68797744T>A	uc003hdr.1	-	3	417	c.296A>T	c.(295-297)aAa>aTa	p.K99I	LOC550112_uc003hdl.4_Intron|TMPRSS11A_uc003hds.1_Missense_Mutation_p.K96I	NM_182606	NP_872412	Q6ZMR5	TM11A_HUMAN	Homo sapiens transmembrane protease, serine 11A (TMPRSS11A), transcript variant 1, mRNA.	99	SEA.				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						GATATAATTTTTCTTCCAGGC	0.353000														37			21		0	0	0.000720815	0	0
NUP214	8021	broad.mit.edu	37	9	134072702	134072702	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:134072702C>T	uc004cag.3	+	28	3932	c.3821C>T	c.(3820-3822)cCc>cTc	p.P1274L	NUP214_uc004cah.3_Missense_Mutation_p.P1264L|NUP214_uc004cai.3_Missense_Mutation_p.P704L|NUP214_uc010mzg.3_Non-coding_Transcript|NUP214_uc011mcg.2_Missense_Mutation_p.P100L|NUP214_uc011mcf.1_Missense_Mutation_p.P51L|NUP214_uc010mzh.1_5'UTR|NUP214_uc010mzi.1_5'UTR	NM_005085	NP_005076	P35658	NU214_HUMAN	Homo sapiens nucleoporin 214kDa (NUP214), mRNA.	1274	11 X 5 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		AGCTCACCTCCCTCAGGAATC	0.557000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""									34			25		0	0	0.000586117	0	0
C1orf129	80133	broad.mit.edu	37	1	170931075	170931075	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:170931075G>A	uc010plz.2	+	5	487	c.333G>A	c.(331-333)acG>acA	p.T111T	C1orf129_uc001ghg.3_Silent_p.T111T|C1orf129_uc009wvy.3_5'UTR	NM_001163629	NP_001157101	Q5TGP6	CA129_HUMAN	Homo sapiens chromosome 1 open reading frame 129 (C1orf129), transcript variant 1, mRNA.	111							binding	p.T111T(2)|p.T111M(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(16)|pancreas(1)|prostate(1)|skin(3)	45	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ACATTCTTACGAGCTTGGTGT	0.308000														37			14		0	0	0.00074312	0	0
TCEB3B	51224	broad.mit.edu	37	18	44561339	44561339	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr18:44561339G>A	uc002lcr.1	-	0	650	c.297C>T	c.(295-297)ttC>ttT	p.F99F	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.	99					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GAGCCTCCCCGAAGCGCTGTC	0.657000														33			20		0	0	0.00121646	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130319456	130319456	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:130319456G>A	uc010scd.2	+	0	588	c.588G>A	c.(586-588)gcG>gcA	p.A196A		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 15 (ADAMTS15), mRNA.	196					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		CGCGGCGGGCGGGCTTCGGGG	0.716000														9			5		0	0	0.000602214	0	0
SPAG17	200162	broad.mit.edu	37	1	118523897	118523897	+	Silent	SNP	A	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:118523897A>T	uc001ehk.2	-	42	6068	c.6000T>A	c.(5998-6000)ccT>ccA	p.P2000P	SPAG17_uc021osr.1_Silent_p.P510P	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	2000						cilium|flagellar axoneme|microtubule		p.S1999Y(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CCATACCTTCAGGAGATTTTG	0.393000														42			38		0	0	0.00222228	0	0
LOC441666	441666	broad.mit.edu	37	10	42832134	42832134	+	RNA	SNP	T	C	C			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:42832134T>C	uc010qey.2	-	2		c.1841A>G								Homo sapiens zinc finger protein 91 pseudogene (LOC441666), non-coding RNA.																		TTGCCACATTTTTCACAATTG	0.353000														4			5		0	0	0.000602214	0	0
GPR124	25960	broad.mit.edu	37	8	37693275	37693275	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr8:37693275C>T	uc003xkj.3	+	12	2423	c.2037C>T	c.(2035-2037)atC>atT	p.I679I	GPR124_uc010lvy.3_Intron	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	Homo sapiens G protein-coupled receptor 124 (GPR124), mRNA.	679					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CCCCCGTCATCTTCGCAGGAA	0.657000														5			8		0	0	0.000274275	0	0
CSMD3	114788	broad.mit.edu	37	8	113662482	113662482	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr8:113662482A>T	uc003ynu.3	-	18	3260	c.3101T>A	c.(3100-3102)tTt>tAt	p.F1034Y	CSMD3_uc003yns.3_Missense_Mutation_p.F306Y|CSMD3_uc003ynt.3_Missense_Mutation_p.F994Y|CSMD3_uc011lhx.2_Missense_Mutation_p.F930Y	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1034	Sushi 5.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATCACAACTAAATGAAACAGT	0.453000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				53			46		0	0	0.000781405	0	0
NHLRC2	374354	broad.mit.edu	37	10	115661517	115661517	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:115661517A>G	uc001lax.2	+	6	1473	c.1232A>G	c.(1231-1233)cAa>cGa	p.Q411R	NHLRC2_uc001lay.2_Non-coding_Transcript	NM_198514	NP_940916	Q8NBF2	NHLC2_HUMAN	Homo sapiens NHL repeat containing 2 (NHLRC2), mRNA.	411					cell redox homeostasis					breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		GGTTTTGCCCAACCTTCAGGC	0.458000														110			48		0	0	0.000781405	0	0
PRIMA1	145270	broad.mit.edu	37	14	94245555	94245555	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:94245555G>C	uc001ybw.1	-	2	238	c.196C>G	c.(196-198)Ccc>Gcc	p.P66A	PRIMA1_uc001ybx.1_Non-coding_Transcript	NM_178013	NP_821092	Q86XR5	PRIMA_HUMAN	Homo sapiens proline rich membrane anchor 1 (PRIMA1), mRNA.	66	PRAD.				neurotransmitter catabolic process	cell junction|integral to membrane|synapse				endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		all_cancers(154;0.127)		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)		ggtggcgggggtgggggcggc	0.637000														0			2		0	0	6.4e-05	0	0
POLR1A	25885	broad.mit.edu	37	2	86272788	86272789	+	Missense_Mutation	DNP	CC	TA	TA			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:86272788_86272789CC>TA	uc002sqs.3	-	19	3216_3217	c.2837_2838GG>TA	c.(2836-2838)agg>aTA	p.R946I	POLR1A_uc010ytb.2_Missense_Mutation_p.R312I|POLR1A_uc002sqt.1_5'Flank	NM_015425	NP_056240	O95602	RPA1_HUMAN	Homo sapiens polymerase (RNA) I polypeptide A, 194kDa (POLR1A), mRNA.	946					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						AGCCACCAGCCCTGGGGGTGAA	0.525000														51			48		0	0	6.4e-05	0	0
KRT31	3881	broad.mit.edu	37	17	39553173	39553173	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:39553173G>A	uc002hwn.3	-	1	476	c.423C>T	c.(421-423)ttC>ttT	p.F141F	KRT31_uc010cxn.3_Silent_p.F141F	NM_002277	NP_002268	Q15323	K1H1_HUMAN	Homo sapiens keratin 31 (KRT31), mRNA.	141	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				ACTTGGTTCTGAAATCATCCG	0.458000														100			37		0	0	0.00195071	0	0
CCDC150	284992	broad.mit.edu	37	2	197590773	197590773	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:197590773C>T	uc002utp.1	+	21	2641	c.2506C>T	c.(2506-2508)Caa>Taa	p.Q836*	CCDC150_uc010zgs.1_Nonsense_Mutation_p.Q483*|CCDC150_uc010zgt.1_Nonsense_Mutation_p.Q253*|CCDC150_uc002utq.1_Nonsense_Mutation_p.Q151*|CCDC150_uc002utr.1_Nonsense_Mutation_p.Q151*	NM_001080539	NP_001074008	Q8NCX0	CC150_HUMAN	Homo sapiens coiled-coil domain containing 150 (CCDC150), mRNA.	836										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						AAAGCAGTTTCAAACCGAGAG	0.428000														13			9		0	0	0.000274275	0	0
ANAPC1	64682	broad.mit.edu	37	2	112620119	112620119	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:112620119T>C	uc002thi.3	-	9	1356	c.1109A>G	c.(1108-1110)aAc>aGc	p.N370S		NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	Homo sapiens anaphase promoting complex subunit 1 (ANAPC1), mRNA.	370					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						GCTTGAAATGTTGAACCTTTG	0.423000														20			3		0	0	0.00198382	0	0
CAMTA1	23261	broad.mit.edu	37	1	7723500	7723500	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:7723500G>A	uc001aoi.3	+	8	1100	c.893G>A	c.(892-894)gGg>gAg	p.G298E		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	298					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GGGGGGTACGGGAGCCACTCG	0.642000			T	WWTR1	epitheliod hemangioendothelioma									38			34		0	0	0.00111076	0	0
MUC16	94025	broad.mit.edu	37	19	9069660	9069660	+	Missense_Mutation	SNP	G	A	A	rs74872724	byFrequency	TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:9069660G>A	uc002mkp.3	-	2	17990	c.17786C>T	c.(17785-17787)tCc>tTc	p.S5929F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5931	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGCACTGGGGAAGAAGGAGA	0.498000														24			15		0	0	0.000566183	0	0
CABP7	164633	broad.mit.edu	37	22	30123667	30123667	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr22:30123667C>T	uc003agl.3	+	1	196	c.126C>T	c.(124-126)ttC>ttT	p.F42F		NM_182527	NP_872333	Q86V35	CABP7_HUMAN	Homo sapiens calcium binding protein 7 (CABP7), mRNA.	42	EF-hand 1.					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			lung(1)|skin(3)	4			OV - Ovarian serous cystadenocarcinoma(5;0.00442)|Epithelial(10;0.215)|all cancers(5;0.233)			GAGAGGCCTTCAAGGTGTTTG	0.607000														46			38		0	0	0.00195071	0	0
ANK2	287	broad.mit.edu	37	4	114208794	114208794	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:114208794G>A	uc003ibe.4	+	18	2213	c.2113G>A	c.(2113-2115)Gaa>Aaa	p.E705K	ANK2_uc003ibd.4_Missense_Mutation_p.E684K|ANK2_uc003ibf.4_Missense_Mutation_p.E705K|ANK2_uc003ibc.2_Missense_Mutation_p.E681K|ANK2_uc011cgb.1_Missense_Mutation_p.E720K	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	705					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGCAGCCCAGGAAGATAAAGT	0.398000														19			7		0	0	0.000157383	0	0
SALL3	27164	broad.mit.edu	37	18	76754491	76754491	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr18:76754491C>T	uc002lmt.3	+	1	2500	c.2500C>T	c.(2500-2502)Ccc>Tcc	p.P834S	SALL3_uc010dra.3_Missense_Mutation_p.P441S	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	834					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GCCCTCCCCGCCCTCGGTCAT	0.652000														20			16		0	0	0.000566183	0	0
DENND1B	163486	broad.mit.edu	37	1	197614842	197614842	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:197614842C>T	uc021pgu.1	-	8	877	c.539G>A	c.(538-540)gGa>gAa	p.G180E	DENND1B_uc010ppf.2_Non-coding_Transcript|DENND1B_uc001guf.3_Missense_Mutation_p.G180E|DENND1B_uc001gue.3_Missense_Mutation_p.G150E|DENND1B_uc001gug.4_5'UTR	NM_001195215	NP_001182144	Q6P3S1	DEN1B_HUMAN	Homo sapiens DENN/MADD domain containing 1B (DENND1B), transcript variant 3, mRNA.	180	DENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						TGTTGGGAGTCCAGTTACATC	0.279000														19			10		0	0	0.00136819	0	0
OR4C16	219428	broad.mit.edu	37	11	55340152	55340152	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:55340152G>A	uc010rih.2	+	0	549	c.549G>A	c.(547-549)ttG>ttA	p.L183L		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 16 (OR4C16), mRNA.	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				AGCCCTTGTTGAAACAAGCCT	0.438000														45			24		0	0	0.00047179	0	0
CYP1A1	1543	broad.mit.edu	37	15	75012991	75012991	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:75012991C>T	uc002ayp.4	-	6	1500	c.1378G>A	c.(1378-1380)Gag>Aag	p.E460K	CYP1A1_uc010bjy.3_Missense_Mutation_p.E431K|CYP1A1_uc010bju.3_Missense_Mutation_p.E196K|CYP1A1_uc010bjv.3_Non-coding_Transcript|CYP1A1_uc010bjw.3_Non-coding_Transcript|CYP1A1_uc010bjx.3_Missense_Mutation_p.E196K|CYP1A1_uc002ayq.4_Missense_Mutation_p.E460K	NM_000499	NP_000490	P04798	CP1A1_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 1 (CYP1A1), mRNA.	460					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	GCAATGGTCTCACCGATACAC	0.542000									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia					39			39		0	0	0.00195071	0	0
COL4A1	1282	broad.mit.edu	37	13	110835383	110835383	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr13:110835383C>T	uc001vqw.4	-	27	2174	c.2052G>A	c.(2050-2052)gtG>gtA	p.V684V		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	684	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	p.A683T(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CTGGCTGGCCCACAGCGCCCT	0.612000														15			10		0	0	0.000442599	0	0
OR10S1	219873	broad.mit.edu	37	11	123847819	123847819	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:123847819C>T	uc001pzm.1	-	0	580	c.580G>A	c.(580-582)Gac>Aac	p.D194N		NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily S, member 1 (OR10S1), mRNA.	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D194N(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GGGGGTATGTCGCAGAAGAAG	0.567000														36			21		0	0	0.00121646	0	0
OR5AK2	390181	broad.mit.edu	37	11	56757090	56757090	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:56757090G>A	uc010rjp.2	+	0	702	c.702G>A	c.(700-702)agG>agA	p.R234R		NM_001005323	NP_001005323	Q8NH90	O5AK2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AK, member 2 (OR5AK2), mRNA.	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						GTGCAGGAAGGAAAAAATCCT	0.423000														41			24		0	0	0.000375601	0	0
SVIL	6840	broad.mit.edu	37	10	29815923	29815923	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:29815923G>A	uc001iut.1	-	12	3062	c.2309C>T	c.(2308-2310)cCc>cTc	p.P770L	SVIL_uc001iuu.1_Intron	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	770					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				AGCTACAGTGGGGCTAGGAAG	0.537000														28			14		0	0	0.000308642	0	0
LINGO2	158038	broad.mit.edu	37	9	27949714	27949715	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:27949714_27949715CC>TT	uc003zqv.1	-	6	1605_1606	c.955_956GG>AA	c.(955-957)ggg>AAg	p.G319K	LINGO2_uc010mjf.1_Missense_Mutation_p.G319K|LINGO2_uc003zqu.1_Missense_Mutation_p.G319K|LINGO2_uc022bfc.1_Missense_Mutation_p.G319K	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 2 (LINGO2), mRNA.	319						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GAAGCGGAGCCCTTGGAAGGAG	0.540000														51			21		0	0	6.4e-05	0	0
COL6A3	1293	broad.mit.edu	37	2	238296653	238296653	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:238296653G>A	uc002vwl.2	-	3	1169	c.884C>T	c.(883-885)tCc>tTc	p.S295F	COL6A3_uc002vwo.2_Missense_Mutation_p.S89F|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.3_Missense_Mutation_p.S89F|COL6A3_uc002vwr.3_Intron|COL6A3_uc010znk.1_Missense_Mutation_p.S295F	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	295	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGTGTCCAAGGAGAACATGGT	0.547000														24			18		0	0	0.00121646	0	0
HIP1	3092	broad.mit.edu	37	7	75183801	75183801	+	Missense_Mutation	SNP	G	A	A	rs141102143		TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:75183801G>A	uc003uds.2	-	19	2033	c.1988C>T	c.(1987-1989)tCc>tTc	p.S663F	HIP1_uc011kfz.2_Missense_Mutation_p.S663F	NM_005338	NP_005329	O00291	HIP1_HUMAN	Homo sapiens huntingtin interacting protein 1 (HIP1), transcript variant 1, mRNA.	663					activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|clathrin coated vesicle membrane|cytoskeleton|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GCTGGAAATGGATGTGACCGT	0.512000			T	PDGFRB	CMML									26			24		0	0	0.00127121	0	0
KRT36	8689	broad.mit.edu	37	17	39644899	39644899	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:39644899C>T	uc002hwt.3	-	1	537	c.537G>A	c.(535-537)cgG>cgA	p.R179R		NM_003771	NP_003762	O76013	KRT36_HUMAN	Homo sapiens keratin 36 (KRT36), mRNA.	179	Coil 1B.|Rod.		R -> Q (in dbSNP:rs9675246).			intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				CTCACTTGGTCCGGAAGTCGT	0.562000														93			44		0	0	0.000781405	0	0
COL6A3	1293	broad.mit.edu	37	2	238277770	238277770	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:238277770C>T	uc002vwl.2	-	9	4621	c.4336G>A	c.(4336-4338)Gga>Aga	p.G1446R	COL6A3_uc002vwo.2_Missense_Mutation_p.G1240R|COL6A3_uc010znj.1_Missense_Mutation_p.G839R	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1446	Nonhelical region.|VWFA 8.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGCCTAACTCCCTCAGAGCTG	0.468000														29			21		0	0	0.00188189	0	0
IFIT1B	439996	broad.mit.edu	37	10	91144031	91144031	+	Silent	SNP	T	C	C			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:91144031T>C	uc001kgh.3	+	1	1041	c.961T>C	c.(961-963)Ttg>Ctg	p.L321L	LIPA_uc001kgb.4_Intron|LIPA_uc001kgc.4_Intron	NM_001010987	NP_001010987	Q5T764	IFT1B_HUMAN	Homo sapiens interferon-induced protein with tetratricopeptide repeats 1B (IFIT1B), mRNA.	321							binding			endometrium(2)|large_intestine(3)|lung(8)	13						TGTGGACAGATTGGTTCAATT	0.428000														44			32		0	0	0.0024448	0	0
CYB5R4	51167	broad.mit.edu	37	6	84573933	84573933	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:84573933C>T	uc003pkf.3	+	1	247	c.115C>T	c.(115-117)Cga>Tga	p.R39*		NM_016230	NP_057314	Q7L1T6	NB5R4_HUMAN	Homo sapiens cytochrome b5 reductase 4 (CYB5R4), mRNA.	39					cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	NAD(P)H oxidase activity|cytochrome-b5 reductase activity|heme binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		GGATTGGATTCGACTGACCAA	0.328000														15			28		0	0	0.00106085	0	0
NCOR1P1	149934	broad.mit.edu	37	20	26084307	26084307	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:26084307C>T	uc002wvj.4	-	2	164	c.109_splice	c.e2-1	p.D37_splice						Homo sapiens nuclear receptor corepressor 1 pseudogene 1 (NCOR1P1), non-coding RNA.									p.D37N(1)									AATGCTGGATCCTTTAGAGAA	0.393000														52			7		0	0	0.00198382	0	0
ELOVL2	54898	broad.mit.edu	37	6	10995337	10995338	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:10995337_10995338CC>TT	uc003mzp.4	-	4	568_569	c.407_408GG>AA	c.(406-408)cgg>cAA	p.R136Q		NM_017770	NP_060240	Q9NXB9	ELOV2_HUMAN	Homo sapiens ELOVL fatty acid elongase 2 (ELOVL2), mRNA.	136					fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)			TCGTTTTTTTCCGCAAAACGAA	0.376000														61			34		0	0	6.4e-05	0	0
SUN1	23353	broad.mit.edu	37	7	881721	881721	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:881721G>A	uc021zym.1	+	2	425	c.405G>A	c.(403-405)ttG>ttA	p.L135L	SUN1_uc021zyl.1_Silent_p.L135L|SUN1_uc010ksa.1_Silent_p.L156L|SUN1_uc003sje.1_Silent_p.L135L|SUN1_uc011jvq.2_Silent_p.L135L|SUN1_uc003sjf.3_Silent_p.L85L|SUN1_uc003sjg.3_5'Flank	NM_001130965	NP_001124437	O94901	SUN1_HUMAN	Homo sapiens Sad1 and UNC84 domain containing 1 (SUN1), transcript variant 1, mRNA.	135	LMNA-binding.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	SUN-KASH complex|integral to membrane|nuclear inner membrane	protein binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTCCTGTATTGGACGAGTCTT	0.572000														33			20		0	0	0.00152264	0	0
MUC16	94025	broad.mit.edu	37	19	9084257	9084257	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:9084257G>A	uc002mkp.3	-	0	7762	c.7558C>T	c.(7558-7560)Ctc>Ttc	p.L2520F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2520	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTTGTCTTGAGAAAGCCCATG	0.507000														13			13		0	0	0.000219431	0	0
IFIH1	64135	broad.mit.edu	37	2	163130398	163130398	+	Silent	SNP	G	A	A	rs35677292		TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:163130398G>A	uc002uce.3	-	11	2583	c.2361C>T	c.(2359-2361)atC>atT	p.I787I		NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN	Homo sapiens interferon induced with helicase C domain 1 (IFIH1), mRNA.	787	Helicase C-terminal.				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						CTGTGGTAGCGATAAGCAGAT	0.338000														9			9		0	0	0.000442599	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105367173	105367173	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr8:105367173C>T	uc003ylx.1	+	2	1147	c.1098C>T	c.(1096-1098)atC>atT	p.I366I		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	Homo sapiens transmembrane 7 superfamily member 4 (TM7SF4), mRNA.	366					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											CCAACTGTATCCCAAAACCAA	0.348000														30			21		0	0	0.00152264	0	0
UGT2B17	7367	broad.mit.edu	37	4	69416524	69416524	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:69416524G>A	uc021xov.1	-	4	1227	c.1184C>T	c.(1183-1185)cCc>cTc	p.P395L		NM_001077	NP_001068	O75795	UDB17_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B17 (UGT2B17), mRNA.	395					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						CGCAAACAAGGGAATGCCCAC	0.458000														46			10		0	0	0.000978159	0	0
ELAVL2	1993	broad.mit.edu	37	9	23762229	23762229	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:23762229C>T	uc003zpu.3	-	1	279	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K	ELAVL2_uc003zps.3_Missense_Mutation_p.E2K|ELAVL2_uc003zpt.3_Missense_Mutation_p.E2K|ELAVL2_uc003zpv.3_Missense_Mutation_p.E2K|ELAVL2_uc003zpw.3_Missense_Mutation_p.E2K	NM_004432	NP_004423	Q12926	ELAV2_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B) (ELAVL2), transcript variant 1, mRNA.	2					regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		AGTTGTGTTTCCATGGCAGCA	0.398000														10			25		0	0	0.000720815	0	0
COL4A4	1286	broad.mit.edu	37	2	228004923	228004923	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:228004923C>T	uc021vxr.1	-	2	247	c.146G>A	c.(145-147)gGa>gAa	p.G49E	COL4A4_uc021vxs.1_Missense_Mutation_p.G49E	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	49	7S domain.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	p.G48A(1)		breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GCAATCTCTTCCTCCACAAGG	0.413000														41			26		0	0	0.0024448	0	0
KCNQ2	3785	broad.mit.edu	37	20	62038654	62038654	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:62038654C>T	uc002yey.1	-	16	2139	c.1962G>A	c.(1960-1962)gaG>gaA	p.E654E	KCNQ2_uc002yez.1_Silent_p.E623E|KCNQ2_uc002yfa.1_Silent_p.E636E|KCNQ2_uc002yfb.1_Silent_p.E626E	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 2 (KCNQ2), transcript variant 1, mRNA.	654					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	AGGCCTCGGTCTCTGTCGGGG	0.627000														72			18		0	0	0.00152264	0	0
KLK4	9622	broad.mit.edu	37	19	51412575	51412575	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:51412575C>T	uc002pua.1	-	1	157	c.157G>A	c.(157-159)Gaa>Aaa	p.E53K	KLK4_uc002pty.1_Missense_Mutation_p.E4K|KLK4_uc002ptz.1_Non-coding_Transcript|KLK4_uc002pub.1_5'UTR|KLK4_uc002puc.1_Non-coding_Transcript|KLK4_uc010eoi.1_5'UTR|KLK4_uc002pud.1_5'Flank	NM_004917	NP_004908	Q9Y5K2	KLK4_HUMAN	Homo sapiens kallikrein-related peptidase 4 (KLK4), mRNA.	53	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		CAGAACAATTCGTTTTCCATG	0.617000														125			84		0	0	0.000781405	0	0
RAB19	401409	broad.mit.edu	37	7	140125885	140125885	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:140125885C>T	uc010lni.2	+	3	787	c.589C>T	c.(589-591)Ccc>Tcc	p.P197S	RAB19_uc011krc.1_Missense_Mutation_p.P197S	NM_001008749	NP_001008749	A4D1S5	RAB19_HUMAN	Homo sapiens RAB19, member RAS oncogene family (RAB19), mRNA.	197					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9	Melanoma(164;0.0142)					GAACGGCCTCCCCCTGGACTC	0.557000														40			22		0	0	0.000586117	0	0
COL6A3	1293	broad.mit.edu	37	2	238275390	238275390	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:238275390C>T	uc002vwl.2	-	10	5725	c.5440G>A	c.(5440-5442)Gaa>Aaa	p.E1814K	COL6A3_uc002vwo.2_Missense_Mutation_p.E1608K|COL6A3_uc010znj.1_Missense_Mutation_p.E1207K	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1814	Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.E1814*(2)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TGCAAAGTTTCCAAAACTTGC	0.507000														44			33		0	0	0.0024448	0	0
TRMT61B	55006	broad.mit.edu	37	2	29074031	29074031	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:29074031G>A	uc002rmm.3	-	4	1251	c.1219C>T	c.(1219-1221)Caa>Taa	p.Q407*		NM_017910	NP_060380	Q9BVS5	TR61B_HUMAN	Homo sapiens tRNA methyltransferase 61 homolog B (S. cerevisiae) (TRMT61B), mRNA.	407							tRNA (adenine-N1-)-methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						TCTACTTTTTGAGCTAAAATT	0.383000														45			21		0	0	0.00152264	0	0
AHNAK	79026	broad.mit.edu	37	11	62287858	62287858	+	Silent	SNP	G	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:62287858G>T	uc001ntl.3	-	4	14331	c.14031C>A	c.(14029-14031)ccC>ccA	p.P4677P	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	4677					nervous system development	nucleus	protein binding	p.L4676P(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGTCAGCCTTGGGCAGGTTCA	0.502000														281			9		0.000673444	0.00305906	0.000673444	1	0
ANO1	55107	broad.mit.edu	37	11	69934100	69934100	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:69934100G>A	uc001opj.3	+	1	656	c.351G>A	c.(349-351)atG>atA	p.M117I	ANO1_uc001opl.2_Non-coding_Transcript|ANO1_uc001opk.1_Missense_Mutation_p.M89I	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	Homo sapiens anoctamin 1, calcium activated chloride channel (ANO1), transcript variant 1, mRNA.	117					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity	p.P116P(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						AGCCCCCGATGGACTACCACG	0.682000														5			5		0	0	0.00116845	0	0
OR10R2	343406	broad.mit.edu	37	1	158449901	158449901	+	Silent	SNP	A	G	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:158449901A>G	uc010pik.2	+	0	234	c.234A>G	c.(232-234)ccA>ccG	p.P78P	AK057554_uc001fso.1_Non-coding_Transcript	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily R, member 2 (OR10R2), mRNA.	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					TCCACACACCAATGTACTTCT	0.423000														67			56		0	0	0.000781405	0	0
LRP12	29967	broad.mit.edu	37	8	105509290	105509290	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr8:105509290G>A	uc003yma.3	-	4	1617	c.1490C>T	c.(1489-1491)gCc>gTc	p.A497V	LRP12_uc003ymb.3_Missense_Mutation_p.A478V|LRP12_uc003ylz.3_5'Flank	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 12 (LRP12), transcript variant 1, mRNA.	497					endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CCCTATGACGGCAGCAGTGAT	0.448000														39			24		0	0	0.00106085	0	0
SMAD6	4091	broad.mit.edu	37	15	67073700	67073700	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:67073700G>A	uc002aqf.3	+	3	2241	c.1318G>A	c.(1318-1320)Gac>Aac	p.D440N	SMAD6_uc010bhx.3_Non-coding_Transcript|SMAD6_uc002aqg.3_Missense_Mutation_p.D179N	NM_005585	NP_005576	O43541	SMAD6_HUMAN	Homo sapiens SMAD family member 6 (SMAD6), transcript variant 1, mRNA.	440	MH2.				BMP signaling pathway|immune response|negative regulation of BMP signaling pathway|negative regulation of SMAD protein complex assembly|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	cytosol|transcription factor complex	I-SMAD binding|R-SMAD binding|co-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			lung(1)|skin(1)	2						CAAGGTGTTCGACTTCGAGCG	0.726000														16			10		0	0	0.000673444	0	0
TARSL2	123283	broad.mit.edu	37	15	102201986	102201986	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:102201986G>A	uc002bxm.3	-	15	2056	c.2001C>T	c.(1999-2001)atC>atT	p.I667I	TARSL2_uc002bxl.3_Silent_p.I212I|TARSL2_uc010usi.2_Non-coding_Transcript	NM_152334	NP_689547	A2RTX5	SYTC2_HUMAN	Homo sapiens threonyl-tRNA synthetase-like 2 (TARSL2), mRNA.	667					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTCGATGAATGATCACAGGTC	0.323000														32			20		0	0	0.00047179	0	0
LOC729020	729020	broad.mit.edu	37	10	105005966	105005966	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:105005966G>A	uc009xxi.2	+	0	323	c.213G>A	c.(211-213)atG>atA	p.M71I	BC040734_uc001kwr.3_Intron	NM_001143909	NP_001137381	Q2QD12	Q2QD12_HUMAN	Homo sapiens rcRPE (LOC729020), mRNA.	71					carbohydrate metabolic process		ribulose-phosphate 3-epimerase activity										ACATGCACATGATGGTGTCCA	0.493000														54			46		0	0	0.000589545	0	0
TEKT1	83659	broad.mit.edu	37	17	6716272	6716272	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:6716272G>A	uc002gdt.3	-	5	840	c.730C>T	c.(730-732)Cga>Tga	p.R244*	TEKT1_uc010vth.2_Nonsense_Mutation_p.R98*	NM_053285	NP_444515	Q969V4	TEKT1_HUMAN	Homo sapiens tektin 1 (TEKT1), mRNA.	244					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		p.R244*(2)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				GACAGGATTCGATCCACCAGG	0.537000														15			32		0	0	0.000491102	0	0
DNAH3	55567	broad.mit.edu	37	16	20952783	20952783	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:20952783G>A	uc010vbe.2	-	58	11594	c.11594C>T	c.(11593-11595)cCc>cTc	p.P3865L	DNAH3_uc010vbd.2_Missense_Mutation_p.P1300L	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3865					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ATAGACCACGGGGTACAACTT	0.483000														105			104		0	0	0.000781405	0	0
CCDC80	151887	broad.mit.edu	37	3	112358629	112358629	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:112358629A>T	uc003dzf.3	-	1	342	c.124T>A	c.(124-126)Tct>Act	p.S42T	CCDC80_uc011bhv.2_Missense_Mutation_p.S42T|CCDC80_uc003dzg.3_Missense_Mutation_p.S42T|CCDC80_uc003dzh.1_Missense_Mutation_p.S42T	NM_199512	NP_955806	Q76M96	CCD80_HUMAN	Homo sapiens coiled-coil domain containing 80 (CCDC80), transcript variant 2, mRNA.	42										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						CTGTCCGGAGAAACCAAAGGC	0.557000														40			23		0	0	0.00229938	0	0
PPIP5K1	9677	broad.mit.edu	37	15	43873490	43873490	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:43873490G>A	uc001zrw.3	-	8	1078	c.874C>T	c.(874-876)Cga>Tga	p.R292*	PPIP5K1_uc021sjw.1_Nonsense_Mutation_p.R292*|PPIP5K1_uc001zrx.2_Nonsense_Mutation_p.R292*|PPIP5K1_uc001zry.4_Nonsense_Mutation_p.R292*|PPIP5K1_uc001zrz.1_Nonsense_Mutation_p.R292*|PPIP5K1_uc021sjy.1_Nonsense_Mutation_p.R292*|PPIP5K1_uc021sjz.1_Nonsense_Mutation_p.R292*|PPIP5K1_uc010udr.2_Nonsense_Mutation_p.R292*	NM_001130858	NP_001124330	Q6PFW1	VIP1_HUMAN	Homo sapiens diphosphoinositol pentakisphosphate kinase 1 (PPIP5K1), transcript variant 5, mRNA.	292					inositol metabolic process	cytosol	ATP binding|acid phosphatase activity|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	p.R292*(1)		large_intestine(1)	1						ACTGGATATCGAATCTCTTTC	0.512000														87			66		0	0	0.000781405	0	0
SORL1	6653	broad.mit.edu	37	11	121367676	121367677	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:121367676_121367677CC>TT	uc001pxx.3	+	5	986_987	c.857_858CC>TT	c.(856-858)tcc>tTT	p.S286F		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	286					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TTCTTCCAGTCCCGGGAAAACC	0.441000														31			23		0	0	6.4e-05	0	0
ABCA4	24	broad.mit.edu	37	1	94574255	94574255	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:94574255C>T	uc001dqh.3	-	3	424	c.320G>A	c.(319-321)cGa>cAa	p.R107Q	ABCA4_uc010otn.1_Missense_Mutation_p.R107Q	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	107					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.R107Q(2)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TTGAAAATCTCGATATACCCT	0.393000														35			22		0	0	0.000720815	0	0
CCDC84	338657	broad.mit.edu	37	11	118881945	118881946	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:118881945_118881946CC>TT	uc001pul.3	+	4	521_522	c.465_466CC>TT	c.(463-468)atccgt>atTTgt	p.R156C	CCDC84_uc010ryk.2_Non-coding_Transcript|CCDC84_uc010ryl.2_Non-coding_Transcript|CCDC84_uc010rym.2_Non-coding_Transcript	NM_198489	NP_940891	Q86UT8	CCD84_HUMAN	Homo sapiens coiled-coil domain containing 84 (CCDC84), mRNA.	156										breast(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		CAGCTCAGATCCGTGAGGTGGA	0.564000														30			8		0	0	6.4e-05	0	0
LILRP2	79166	broad.mit.edu	37	19	55221525	55221525	+	RNA	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:55221525C>T	uc002qgs.1	+	0		c.1925C>T			LILRP2_uc002qgt.1_Non-coding_Transcript					Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA.																		GCCAACTTCACCCTGGGCCCT	0.647000														12			11		0	0	0.00136819	0	0
PIGG	54872	broad.mit.edu	37	4	517605	517605	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:517605C>T	uc003gak.4	+	8	2108	c.1972C>T	c.(1972-1974)Ccg>Tcg	p.P658S	PIGG_uc003gaj.4_Missense_Mutation_p.P650S|PIGG_uc011bux.2_Non-coding_Transcript|PIGG_uc010ibf.3_Missense_Mutation_p.P525S|PIGG_uc003gal.4_Missense_Mutation_p.P569S	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class G (PIGG), transcript variant 1, mRNA.	658					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						GCTGGCCAGTCCGTGGCTAAT	0.652000														6			7		0	0	0.00198382	0	0
KIAA1217	56243	broad.mit.edu	37	10	24762301	24762301	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:24762301C>T	uc001iru.4	+	5	1394	c.991C>T	c.(991-993)Cct>Tct	p.P331S	KIAA1217_uc001irs.3_Missense_Mutation_p.P251S|KIAA1217_uc001irt.4_Missense_Mutation_p.P331S|KIAA1217_uc010qcy.2_Missense_Mutation_p.P331S|KIAA1217_uc010qcz.2_Missense_Mutation_p.P331S|KIAA1217_uc001irv.1_Missense_Mutation_p.P181S|KIAA1217_uc010qda.1_Non-coding_Transcript|KIAA1217_uc001irw.3_Missense_Mutation_p.P49S|KIAA1217_uc001irz.3_Missense_Mutation_p.P49S|KIAA1217_uc001irx.3_Missense_Mutation_p.P49S|KIAA1217_uc001iry.3_Missense_Mutation_p.P49S	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	331	Pro-rich.				embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GTCCAGAATTCCTTATGGGGG	0.612000														32			14		0	0	0.00185496	0	0
C4orf36	132989	broad.mit.edu	37	4	87809342	87809342	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:87809342G>A	uc003hqe.4	-	2	465	c.152C>T	c.(151-153)tCa>tTa	p.S51L		NM_144645	NP_653246	Q96KX1	CD036_HUMAN	Homo sapiens chromosome 4 open reading frame 36 (C4orf36), mRNA.	51										breast(1)|kidney(1)|lung(1)|prostate(1)	4		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00141)		ACCACCAAATGAAATTTCTTC	0.408000														49			29		0	0	0.00127121	0	0
SRGAP3	9901	broad.mit.edu	37	3	9027492	9027492	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:9027492G>A	uc003brf.1	-	21	3687	c.3011C>T	c.(3010-3012)cCc>cTc	p.P1004L	SRGAP3_uc003brg.1_Missense_Mutation_p.P980L	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	1004					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CGAGCTGACGGGGCCTGGCGG	0.667000			T	RAF1	pilocytic astrocytoma									34			26		0	0	0.000720815	0	0
C18orf26	284254	broad.mit.edu	37	18	52262289	52262289	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr18:52262289C>T	uc002lfq.1	+	1	301	c.255C>T	c.(253-255)atC>atT	p.I85I		NM_173629	NP_775900	Q8N1N2	CR026_HUMAN	Homo sapiens chromosome 18 open reading frame 26 (C18orf26), mRNA.	85						integral to membrane				endometrium(4)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	11				Colorectal(16;0.0193)|READ - Rectum adenocarcinoma(59;0.178)		ACCCAGGAATCCTTGCACATT	0.453000														30			12		0	0	0.00185496	0	0
SLC22A3	6581	broad.mit.edu	37	6	160868816	160868816	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:160868816C>T	uc003qti.3	+	9	1603	c.1576C>T	c.(1576-1578)Cca>Tca	p.P526S	SLC22A3_uc011efx.2_Non-coding_Transcript	NM_021977	NP_068812	O75751	S22A3_HUMAN	Homo sapiens solute carrier family 22 (extraneuronal monoamine transporter), member 3 (SLC22A3), mRNA.	526						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		TATTGCCTTGCCAGAGACAGT	0.448000														19			31		0	0	0.00148497	0	0
PLXNB3	5365	broad.mit.edu	37	X	153033717	153033717	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:153033717C>T	uc010nuk.2	+	4	1440	c.1169C>T	c.(1168-1170)tCg>tTg	p.S390L	PLXNB3_uc011mzb.1_Intron|PLXNB3_uc011mzc.2_Missense_Mutation_p.S49L|PLXNB3_uc004fii.2_Missense_Mutation_p.S367L|PLXNB3_uc011mzd.1_Missense_Mutation_p.S6L	NM_001163257	NP_001156729	Q9ULL4	PLXB3_HUMAN	Homo sapiens plexin B3 (PLXNB3), transcript variant 2, mRNA.	367	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCCCCGAGTCGTACCCCTGT	0.687000														5			19		0	0	0.000375601	0	0
TCRBV3S1	0	broad.mit.edu	37	7	142428907	142428907	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:142428907G>T	uc011ksk.1	+	1	284	c.267G>T	c.(265-267)aaG>aaT	p.K89N	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Missense_Mutation_p.K44N					SubName: Full=V_segment translation product; Flags: Fragment;																		CTAGAGAGAAGAAGGAGCGCT	0.498000														8			9		2.17888e-05	9.95411e-05	0.000442599	1	0
FGF11	2256	broad.mit.edu	37	17	7345189	7345189	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:7345189C>T	uc002ggz.3	+	2	650	c.399C>T	c.(397-399)ctC>ctT	p.L133L	SPEM1_uc010vtw.1_3'UTR|FGF11_uc010cmh.1_Non-coding_Transcript|FGF11_uc010cmi.3_Silent_p.L9L|FGF11_uc010vtx.2_Silent_p.L74L	NM_004112	NP_004103	Q92914	FGF11_HUMAN	Homo sapiens fibroblast growth factor 11 (FGF11), mRNA.	133					cell-cell signaling|nervous system development|signal transduction		growth factor activity			central_nervous_system(1)|large_intestine(3)|ovary(1)|prostate(1)	6		Prostate(122;0.157)				AGGGACTGCTCTACAGTTCGG	0.557000														8			12		0	0	0.00185496	0	0
RC3H1	149041	broad.mit.edu	37	1	173949997	173949997	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:173949997G>A	uc010pmt.2	-	4	1006	c.919C>T	c.(919-921)Ctt>Ttt	p.L307F	RC3H1_uc001gju.4_Missense_Mutation_p.L307F|RC3H1_uc010pms.2_Missense_Mutation_p.L307F|RC3H1_uc001gjv.3_Missense_Mutation_p.L307F	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN	Homo sapiens ring finger and CCCH-type domains 1 (RC3H1), mRNA.	307					cytoplasmic mRNA processing body assembly|negative regulation of B cell proliferation|negative regulation of T-helper cell differentiation|negative regulation of activated T cell proliferation|negative regulation of germinal center formation|nuclear-transcribed mRNA catabolic process|regulation of T cell receptor signaling pathway|regulation of mRNA stability	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						TCTCCATAAAGCAAAGAGGAC	0.443000														44			21		0	0	0.000586117	0	0
SLC38A3	10991	broad.mit.edu	37	3	50254688	50254688	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:50254688G>A	uc003cyn.4	+	7	705	c.564G>A	c.(562-564)ggG>ggA	p.G188G	SLC38A3_uc011bdl.2_Silent_p.G164G|SLC38A3_uc011bdm.2_Silent_p.G120G	NM_006841	NP_006832	Q99624	S38A3_HUMAN	Homo sapiens solute carrier family 38, member 3 (SLC38A3), mRNA.	189					cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|antiporter activity|symporter activity			breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)	ACATGAACGGGAACTACCTGG	0.587000														10			10		0	0	0.000978159	0	0
THSD7B	80731	broad.mit.edu	37	2	137872713	137872713	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:137872713G>A	uc002tva.1	+	3	1126	c.1126G>A	c.(1126-1128)Gaa>Aaa	p.E376K	THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_Missense_Mutation_p.E266K	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GAGAACTTCTGAATGGAAAGA	0.468000														23			13		0	0	0.000308642	0	0
PCDH20	64881	broad.mit.edu	37	13	61987197	61987197	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr13:61987197C>T	uc001vid.4	-	1	1399	c.1035G>A	c.(1033-1035)gtG>gtA	p.V345V	PCDH20_uc010thj.2_Silent_p.V345V	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	Homo sapiens protocadherin 20 (PCDH20), mRNA.	318	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		AGTCTTTATCCACAGCCTGGA	0.428000														58			37		0	0	0.00170553	0	0
ZNF621	285268	broad.mit.edu	37	3	40574105	40574105	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:40574105C>T	uc003ckm.2	+	4	1060	c.844C>T	c.(844-846)Cag>Tag	p.Q282*	ZNF621_uc003ckn.2_Nonsense_Mutation_p.Q282*|ZNF621_uc003cko.2_Nonsense_Mutation_p.Q247*|ZNF621_uc011aze.1_Nonsense_Mutation_p.Q274*	NM_001098414	NP_940886	Q6ZSS3	ZN621_HUMAN	Homo sapiens zinc finger protein 621 (ZNF621), transcript variant 2, mRNA.	282					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		TATTGTCCATCAGAGAATTCA	0.433000														32			14		0	0	0.00185496	0	0
ENAH	55740	broad.mit.edu	37	1	225702311	225702311	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:225702311C>T	uc001hpc.1	-	6	1658	c.1205G>A	c.(1204-1206)aGg>aAg	p.R402K	ENAH_uc021pju.1_Missense_Mutation_p.R352K|ENAH_uc001hpd.1_Missense_Mutation_p.R402K|ENAH_uc001hpb.1_Missense_Mutation_p.R21K	NM_001008493	NP_001008493	Q8N8S7	ENAH_HUMAN	Homo sapiens enabled homolog (Drosophila) (ENAH), transcript variant 1, mRNA.	402	EVH2 block A.|EVH2.				T cell receptor signaling pathway|axon guidance|intracellular transport	cytosol|filopodium|focal adhesion|lamellipodium|synapse	SH3 domain binding|WW domain binding|actin binding	p.R402R(1)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		TGACACTTTCCTAAGTTTTGC	0.373000														62			23		0	0	0.000375601	0	0
MUC2	4583	broad.mit.edu	37	11	1096475	1096475	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:1096475C>T	uc001lsx.1	+	35	6515	c.6488C>T	c.(6487-6489)cCc>cTc	p.P2163L		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	4529						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CACTGCGATCCCAACGACAAG	0.577000														41			26		0	0	0.00127121	0	0
APOBR	55911	broad.mit.edu	37	16	28508931	28508931	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:28508931C>T	uc002dqb.2	+	1	2602	c.2569C>T	c.(2569-2571)Ccc>Tcc	p.P857S	NPIPL1_uc010vct.2_Intron|APOBR_uc010byg.2_Missense_Mutation_p.P386S	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN	Homo sapiens apolipoprotein B receptor (APOBR), mRNA.	848	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						TGGGCTGGATCCCGCGGGCTC	0.637000														4			9		0	0	0.000442599	0	0
C10orf88	80007	broad.mit.edu	37	10	124711494	124711494	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:124711494G>A	uc001lgw.2	-	2	642	c.417C>T	c.(415-417)tcC>tcT	p.S139S	C10orf88_uc001lgx.2_Silent_p.S41S	NM_024942	NP_079218	Q9H8K7	CJ088_HUMAN	Homo sapiens chromosome 10 open reading frame 88 (C10orf88), mRNA.	139										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)	18		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)		CATGTGTGGAGGACTCCAATT	0.249000														28			16		0	0	0.00074312	0	0
GRID2	2895	broad.mit.edu	37	4	94547532	94547532	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:94547532G>A	uc011cdt.2	+	13	2564	c.2306G>A	c.(2305-2307)gGa>gAa	p.G769E	GRID2_uc011cdu.2_Missense_Mutation_p.G674E	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	769					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.G769G(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GCTGATCGGGGATATGGAATT	0.388000														57			39		0	0	0.00222228	0	0
COPA	1314	broad.mit.edu	37	1	160265560	160265560	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:160265560G>A	uc001fvv.4	-	22	2863	c.2469C>T	c.(2467-2469)tcC>tcT	p.S823S	COPA_uc009wti.3_Silent_p.S814S	NM_001098398	NP_001091868	P53621	COPA_HUMAN	Homo sapiens coatomer protein complex, subunit alpha (COPA), transcript variant 1, mRNA.	814					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AAAATCCTTTGGATACAGTCA	0.428000														92			33		0	0	0.000491102	0	0
SNRPB2	6629	broad.mit.edu	37	20	16721490	16721490	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:16721490G>A	uc002wph.2	+	7	755	c.519_splice	c.e7-1	p.Q173_splice	SNRPB2_uc002wpi.2_Splice_Site_p.Q173_splice	NM_003092	NP_937863	P08579	RU2B_HUMAN	Homo sapiens small nuclear ribonucleoprotein polypeptide B (SNRPB2), transcript variant 1, mRNA.	173	RRM 2.					U2 snRNP|catalytic step 2 spliceosome|nucleoplasm	RNA binding|nucleotide binding|protein binding			large_intestine(2)|lung(2)|urinary_tract(1)	5						CTTCTTTATAGGTTCCCTGGC	0.388000														19			13		0	0	0.000308642	0	0
ATP6V1B2	526	broad.mit.edu	37	8	20077788	20077788	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr8:20077788C>T	uc003wzp.3	+	13	1625	c.1411C>T	c.(1411-1413)Cgc>Tgc	p.R471C	ATP6V1B2_uc003wzq.1_Non-coding_Transcript	NM_001693	NP_001684	P21281	VATB2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2 (ATP6V1B2), mRNA.	471					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	Golgi apparatus|cytosol|endomembrane system|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(1)|kidney(2)|lung(5)|prostate(1)	9				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)		TTACGAAAATCGCACTGTCTT	0.393000														5			16		0	0	0.00152264	0	0
SLC15A1	6564	broad.mit.edu	37	13	99356649	99356649	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr13:99356649C>T	uc001vno.3	-	16	1387	c.1310G>A	c.(1309-1311)aGg>aAg	p.R437K		NM_005073	NP_005064	P46059	S15A1_HUMAN	Homo sapiens solute carrier family 15 (oligopeptide transporter), member 1 (SLC15A1), mRNA.	437					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	AATGTTTATCCTTGTCAGTTT	0.453000														54			24		0	0	0.00047179	0	0
KALRN	8997	broad.mit.edu	37	3	124153173	124153173	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:124153173C>T	uc003ehg.3	+	16	2970	c.2843C>T	c.(2842-2844)tCc>tTc	p.S948F	KALRN_uc010hrv.1_Intron|KALRN_uc003ehf.1_Missense_Mutation_p.S948F|KALRN_uc011bjy.1_Intron|KALRN_uc003ehh.1_Missense_Mutation_p.S294F	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	948					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CATGCCACTTCCTTGCAGAAG	0.607000														16			17		0	0	0.00188189	0	0
WDR25	79446	broad.mit.edu	37	14	100847981	100847981	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:100847981C>T	uc010avx.3	+	1	813	c.720C>T	c.(718-720)ttC>ttT	p.F240F	WDR25_uc001yhn.3_Silent_p.F240F|WDR25_uc010avy.3_Non-coding_Transcript|WDR25_uc001yho.3_5'Flank|WDR25_uc021sbq.1_Silent_p.F232F	NM_001161476	NP_078791	Q64LD2	WDR25_HUMAN	Homo sapiens WD repeat domain 25 (WDR25), transcript variant 2, mRNA.	240										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				AAGTGCTTTTCCACCTGAGAG	0.498000														29			11		0	0	0.000673444	0	0
TRPC5	7224	broad.mit.edu	37	X	111095551	111095551	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:111095551G>A	uc004epl.1	-	4	2271	c.1352C>T	c.(1351-1353)tCc>tTc	p.S451F	TRPC5_uc004epm.1_Missense_Mutation_p.S451F	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.	451					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						AATCTTCAGGGAAATAGTTGC	0.418000														3			26		0	0	0.00047179	0	0
ACTL7B	10880	broad.mit.edu	37	9	111617648	111617648	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:111617648G>A	uc004bdi.3	-	0	628	c.563C>T	c.(562-564)tCc>tTc	p.S188F		NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN	Homo sapiens actin-like 7B (ACTL7B), mRNA.	188						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CTTGCCGTAGGAGTAGATGGA	0.657000														22			16		0	0	0.000566183	0	0
OR2AT4	341152	broad.mit.edu	37	11	74800065	74800065	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:74800065G>A	uc010rro.2	-	0	694	c.694C>T	c.(694-696)Cgc>Tgc	p.R232C		NM_001005285	NP_001005285	A6NND4	O2AT4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AT, member 4 (OR2AT4), mRNA.	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						GAACTGATGCGAAGCACTGAG	0.577000														13			11		0	0	0.000219431	0	0
ABCA6	23460	broad.mit.edu	37	17	67075144	67075144	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:67075144C>T	uc002jhw.1	-	38	4999	c.4824G>A	c.(4822-4824)tgG>tgA	p.W1608*		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	1608					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					GGAGGAGTTTCCATCTCATTG	0.308000														19			26		0	0	0.00127121	0	0
CACNA1S	779	broad.mit.edu	37	1	201042689	201042690	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:201042689_201042690GG>TT	uc001gvv.3	-	14	2371_2372	c.2144_2145CC>AA	c.(2143-2145)ccc>cAA	p.P715Q		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	715					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TGGCAGTGGTGGGGATGCCCTC	0.550000														464			15		0	0	6.4e-05	0	0
OR51L1	119682	broad.mit.edu	37	11	5020311	5020311	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:5020311C>T	uc010qyu.2	+	0	99	c.99C>T	c.(97-99)ttC>ttT	p.F33F		NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily L, member 1 (OR51L1), mRNA.	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCATCCTCTTCTGTCTTGCAT	0.428000														46			31		0	0	0.00058488	0	0
RPS6KA4	8986	broad.mit.edu	37	11	64137218	64137218	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:64137218C>T	uc001oae.3	+	13	1733	c.1650C>T	c.(1648-1650)atC>atT	p.I550I	RPS6KA4_uc001oad.3_Silent_p.I544I|RPS6KA4_uc010rnl.2_Silent_p.I487I|RPS6KA4_uc001oaf.3_Silent_p.I543I|RPS6KA4_uc009ypp.3_Intron	NM_003942	NP_003933	O75676	KS6A4_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 4 (RPS6KA4), transcript variant 1, mRNA.	550	Protein kinase 2.				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						TGAAAATCATCGACTTCGGGT	0.716000														8			10		0	0	0.000442599	0	0
PLXNA4	91584	broad.mit.edu	37	7	131830012	131830012	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:131830012C>T	uc003vra.4	-	28	5320	c.5091G>A	c.(5089-5091)gaG>gaA	p.E1697E	PLXNA4_uc003vqz.4_5'UTR	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1697						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGAAGATGGTCTCAAAGAGGT	0.522000														26			11		0	0	0.000219431	0	0
SPATA5L1	79029	broad.mit.edu	37	15	45694681	45694681	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:45694681C>T	uc001zve.3	+	0	163	c.54C>T	c.(52-54)ccC>ccT	p.P18P	BC039389_uc001zvd.3_5'Flank|SPATA5L1_uc001zvf.3_Non-coding_Transcript	NM_024063	NP_076968	Q9BVQ7	SPA5L_HUMAN	Homo sapiens spermatogenesis associated 5-like 1 (SPATA5L1), transcript variant 1, mRNA.	18						cytoplasm	ATP binding|nucleoside-triphosphatase activity			kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		AGCTGCTACCCTTAGACGCTA	0.652000														7			6		0	0	0.000157383	0	0
FER1L6	654463	broad.mit.edu	37	8	125072930	125072930	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr8:125072930C>T	uc003yqw.3	+	23	3333	c.3127C>T	c.(3127-3129)Cag>Tag	p.Q1043*	AK057332_uc003yqy.1_Non-coding_Transcript	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1043						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CTTCAGCATCCAGGCAGACGC	0.527000														49			17		0	0	0.000958276	0	0
CAPN11	11131	broad.mit.edu	37	6	44144023	44144023	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:44144023C>T	uc003owt.1	+	8	987	c.949C>T	c.(949-951)Cgg>Tgg	p.R317W	CAPN11_uc011dvn.2_5'Flank	NM_007058	NP_008989	Q9UMQ6	CAN11_HUMAN	Homo sapiens calpain 11 (CAPN11), mRNA.	317	Calpain catalytic.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AACACTGATTCGGGTCCGGAA	0.587000														34			24		0	0	0.00209593	0	0
RBM14	10432	broad.mit.edu	37	11	66393940	66393940	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:66393940C>T	uc001oit.3	+	2	1950	c.1811C>T	c.(1810-1812)tCc>tTc	p.S604F	RBM14_uc009yri.3_Missense_Mutation_p.P153S|RBM14_uc009yrh.3_Missense_Mutation_p.P116S|RBM14_uc009yrj.3_Intron|RBM14_uc009yrk.3_Intron|RBM14_uc021qmb.1_Intron|RBM14_uc021qmc.1_3'UTR	NM_006328	NP_006319	Q96PK6	RBM14_HUMAN	Homo sapiens RNA binding motif protein 14 (RBM14), transcript variant 1, mRNA.	604					DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	RNA binding|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						AGGTATGGTTCCGACCGGCGT	0.572000														52			41		0	0	0.000781405	0	0
WDR24	84219	broad.mit.edu	37	16	739256	739256	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:739256G>A	uc002ciz.1	-	0	1145	c.385C>T	c.(385-387)Cac>Tac	p.H129Y		NM_032259	NP_115635	Q96S15	WDR24_HUMAN	Homo sapiens WD repeat domain 24 (WDR24), mRNA.	191										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				TCGGTGGGGTGGAAGCAGACT	0.587000														23			16		0	0	0.000566183	0	0
CAD	790	broad.mit.edu	37	2	27454446	27454446	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:27454446A>G	uc002rji.3	+	15	2560	c.2398A>G	c.(2398-2400)Atg>Gtg	p.M800V	CAD_uc010eyw.3_Missense_Mutation_p.M737V	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	800	CPSase (Carbamoyl-phosphate synthase).|CPSase A.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	ATP binding|aspartate binding|aspartate carbamoyltransferase activity|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	AGTCAGCGATATGGTAAGTAG	0.537000														19			21		0	0	0.00229938	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76482753	76482753	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:76482753C>T	uc002fex.1	+	4	980	c.841C>T	c.(841-843)Cag>Tag	p.Q281*	CNTNAP4_uc002feu.1_Nonsense_Mutation_p.Q277*|CNTNAP4_uc002fev.1_Nonsense_Mutation_p.Q190*|CNTNAP4_uc010chb.1_Nonsense_Mutation_p.Q253*|CNTNAP4_uc002few.2_Nonsense_Mutation_p.Q253*	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	278	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						AGTGCTCATCCAGCGTTTGGG	0.488000														12			9		0	0	0.000442599	0	0
B3GALT5	10317	broad.mit.edu	37	21	41032744	41032744	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr21:41032744G>A	uc021wjj.1	+	0	258	c.258G>A	c.(256-258)gtG>gtA	p.V86V	B3GALT5_uc002yyb.1_Silent_p.V86V|B3GALT5_uc002yye.2_Silent_p.V86V|B3GALT5_uc002yyi.1_Silent_p.V86V|B3GALT5_uc002yyj.1_Silent_p.V86V|B3GALT5_uc002yyk.1_Silent_p.V86V|B3GALT5_uc002yyl.1_Silent_p.V86V|B3GALT5_uc002yym.1_Silent_p.V86V	NM_033173	NP_149363	Q9Y2C3	B3GT5_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5 (B3GALT5), transcript variant 5, mRNA.	86					protein glycosylation	Golgi membrane|endoplasmic reticulum|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	p.M85I(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				AGAGGATGGTGAAGGGAAAGC	0.592000														13			11		0	0	0.000673444	0	0
ZBED1	9189	broad.mit.edu	37	X	2406784	2406784	+	Silent	SNP	G	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:2406784G>T	uc022brx.1	-	0	1977	c.1977C>A	c.(1975-1977)ccC>ccA	p.P659P	DHRSX_uc004cqf.4_Intron|ZBED1_uc004cqh.2_Silent_p.P659P|ZBED1_uc004cqg.2_Silent_p.P659P|ZBED1_uc022brw.1_Silent_p.P659P	NM_004729	NP_004720	O96006	ZBED1_HUMAN	Homo sapiens zinc finger, BED-type containing 1 (ZBED1), transcript variant 2, mRNA.	659						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCTGGTCCTCGGGTTCCGCCT	0.652000														90			5		0.00198382	0.00892858	0.00198382	1	0
NCAN	1463	broad.mit.edu	37	19	19329750	19329750	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:19329750G>A	uc002nlz.3	+	2	199	c.100G>A	c.(100-102)Gaa>Aaa	p.E34K		NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	34					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CGATGCCAGCGAAAGGGGGCT	0.607000														21			14		0	0	0.000422831	0	0
OR51I1	390063	broad.mit.edu	37	11	5462122	5462122	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:5462122G>A	uc010qze.2	-	0	662	c.623C>T	c.(622-624)aCc>aTc	p.T208I	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001005288	NP_001005288	Q9H343	O51I1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily I, member 1 (OR51I1), mRNA.	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATACCATAGGTAAAAATGAT	0.453000														6			6		0	0	0.00116845	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29891210	29891210	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:29891210C>T	uc010vec.2	-	8	1793	c.1548G>A	c.(1546-1548)tgG>tgA	p.W516*	BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_Nonsense_Mutation_p.W446*|SEZ6L2_uc002dur.4_Nonsense_Mutation_p.W446*|SEZ6L2_uc002duq.4_Nonsense_Mutation_p.W516*|SEZ6L2_uc010ved.2_Nonsense_Mutation_p.W472*|SEZ6L2_uc002dus.4_Nonsense_Mutation_p.W402*	NM_001243332	NP_001230261	Q6UXD5	SE6L2_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like 2 (SEZ6L2), transcript variant 5, mRNA.	516	Sushi 2.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTGTGTCGTTCCAGTGGGGTT	0.627000														99			74		0	0	0.000781405	0	0
OR4C46	119749	broad.mit.edu	37	11	51515496	51515496	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:51515496C>T	uc010ric.2	+	0	215	c.215C>T	c.(214-216)tCc>tTc	p.S72F		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 46 (OR4C46), mRNA.	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						GCCTGCTATTCCTCTGTCAAT	0.473000														66			37		0	0	0.00111076	0	0
EML1	2009	broad.mit.edu	37	14	100363551	100363551	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:100363551C>T	uc001ygr.3	+	7	873	c.804C>T	c.(802-804)ttC>ttT	p.F268F	EML1_uc010avt.1_Silent_p.F236F|EML1_uc010tww.2_Silent_p.F237F|EML1_uc001ygq.3_Silent_p.F268F|EML1_uc001ygs.3_Silent_p.F249F	NM_001008707	NP_001008707	O00423	EMAL1_HUMAN	Homo sapiens echinoderm microtubule associated protein like 1 (EML1), transcript variant 1, mRNA.	249						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				CCGTCTACTTCATCGCATCCG	0.493000														26			33		0	0	0.000814825	0	0
P2RY10	27334	broad.mit.edu	37	X	78216491	78216491	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:78216491C>T	uc022bzl.1	+	0	474	c.474C>T	c.(472-474)atC>atT	p.I158I	P2RY10_uc004ede.3_Silent_p.I158I|P2RY10_uc004edf.3_Silent_p.I158I	NM_198333	NP_938147	O00398	P2Y10_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 10 (P2RY10), transcript variant 2, mRNA.	158						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.I158I(2)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						CCATCTGGATCGTTGTGGGGA	0.493000														9			18		0	0	0.00121646	0	0
ALDH4A1	8659	broad.mit.edu	37	1	19204015	19204015	+	Silent	SNP	A	C	C			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:19204015A>C	uc001bbb.3	-	9	1308	c.1032T>G	c.(1030-1032)ggT>ggG	p.G344G	ALDH4A1_uc010ocu.2_Silent_p.G284G|ALDH4A1_uc001bbc.3_Silent_p.G344G|ALDH4A1_uc021ohl.1_Silent_p.G344G	NM_170726	NP_001154976	P30038	AL4A1_HUMAN	Homo sapiens aldehyde dehydrogenase 4 family, member A1 (ALDH4A1), nuclear gene encoding mitochondrial protein, transcript variant P5CDhS, mRNA.	344					proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	NADH(DB00157)	ACTTCTGGCCACCGTACTCGA	0.647000														15			4		0	0	0.00024832	0	0
MCC	4163	broad.mit.edu	37	5	112720758	112720758	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:112720758C>T	uc003kql.4	-	1	738	c.322G>A	c.(322-324)Gaa>Aaa	p.E108K	MCC_uc003kqk.4_Non-coding_Transcript	NM_001085377	NP_001078846	P23508	CRCM_HUMAN	Homo sapiens mutated in colorectal cancers (MCC), transcript variant 1, mRNA.	0					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		AGATCTACTTCCTCCTTCCTA	0.453000														62			33		0	0	0.00111076	0	0
IL7R	3575	broad.mit.edu	37	5	35876084	35876084	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:35876084G>A	uc003jjs.3	+	8	966	c.877_splice	c.e8-1	p.N293_splice	IL7R_uc011cop.2_Splice_Site	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	293					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			TTTCTGTGCAGAATTTAAATG	0.413000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency							27			18		0	0	0.00074312	0	0
IFIH1	64135	broad.mit.edu	37	2	163128858	163128858	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:163128858G>A	uc002uce.3	-	12	2716	c.2494C>T	c.(2494-2496)Ctg>Ttg	p.L832L		NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN	Homo sapiens interferon induced with helicase C domain 1 (IFIH1), mRNA.	832	Helicase C-terminal.				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						TGAGCAACCAGGACGTAGGTG	0.413000														14			9		0	0	0.000442599	0	0
TRAF1	7185	broad.mit.edu	37	9	123676003	123676003	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:123676003G>A	uc004bku.2	-	4	880	c.308C>T	c.(307-309)tCt>tTt	p.S103F	TRAF1_uc011lyg.2_5'UTR|TRAF1_uc010mvl.2_Missense_Mutation_p.S103F	NM_005658	NP_001177876	Q13077	TRAF1_HUMAN	Homo sapiens TNF receptor-associated factor 1 (TRAF1), transcript variant 1, mRNA.	103					apoptosis|positive regulation of NF-kappaB transcription factor activity|protein complex assembly|regulation of apoptosis|signal transduction	cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2)	22						CTCTTGCACAGACTGTGGGCT	0.577000														28			20		0	0	0.00229938	0	0
TLR4	7099	broad.mit.edu	37	9	120475571	120475571	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:120475571G>A	uc004bjz.3	+	2	1456	c.1165G>A	c.(1165-1167)Ggt>Agt	p.G389S	TLR4_uc004bkb.3_Missense_Mutation_p.G189S|TLR4_uc004bka.3_Missense_Mutation_p.G349S	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	389					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						GAGTTTCAAAGGTTGCTGTTC	0.393000														13			6		0	0	0.00116845	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303157	151303157	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:151303157C>T	uc022cgz.1	-	0	936	c.936G>A	c.(934-936)ctG>ctA	p.L312L	MAGEA5_uc022cgy.1_Intron|MAGEA10_uc004ffk.3_Silent_p.L312L|MAGEA10_uc004ffm.2_Silent_p.L312L|MAGEA10_uc004ffl.3_Silent_p.L312L	NM_021048	NP_066386	P43363	MAGAA_HUMAN	Homo sapiens melanoma antigen family A, 10 (MAGEA10), transcript variant 2, mRNA.	312	MAGE.									endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CCAAAAATTTCAGGAGACTCA	0.502000														7			60		0	0	0.000781405	0	0
HRNR	388697	broad.mit.edu	37	1	152192059	152192060	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:152192059_152192060GG>AA	uc001ezt.1	-	2	2121_2122	c.2045_2046CC>TT	c.(2044-2046)tcc>tTT	p.S682F		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	682					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAGACCAACCGGAGCCAGACCC	0.589000														66			103		0	0	6.4e-05	0	0
RIMS2	9699	broad.mit.edu	37	8	104924360	104924360	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr8:104924360G>A	uc003yls.3	+	3	1347	c.1106G>A	c.(1105-1107)gGa>gAa	p.G369E	RIMS2_uc003ylp.3_Missense_Mutation_p.G591E|RIMS2_uc003ylw.2_Missense_Mutation_p.G399E|RIMS2_uc003ylq.3_Missense_Mutation_p.G399E|RIMS2_uc003ylr.3_Missense_Mutation_p.G446E|RIMS2_uc003ylt.3_5'UTR	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	669					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CTAAAAGATGGAAGTGTACCT	0.373000										HNSCC(12;0.0054)				40			32		0	0	0.000692331	0	0
OR4C6	219432	broad.mit.edu	37	11	55433041	55433041	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:55433041C>T	uc010rik.2	+	0	399	c.399C>T	c.(397-399)atC>atT	p.I133I		NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 6 (OR4C6), mRNA.	133			I -> T (in dbSNP:rs11230600).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						ACACGATCATCATGAGTCCAC	0.512000														7			7		0	0	0.000157383	0	0
CPA5	93979	broad.mit.edu	37	7	130008271	130008271	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:130008271G>A	uc010lmd.1	+	13	1764	c.1144G>A	c.(1144-1146)Gtc>Atc	p.V382I	CPA5_uc003vps.2_Missense_Mutation_p.V382I|CPA5_uc003vpt.2_Silent_p.P353P|CPA5_uc010lme.1_Missense_Mutation_p.V382I|CPA5_uc003vpu.1_Missense_Mutation_p.V382I|AK097910_uc003vpv.1_Non-coding_Transcript	NM_001127441	NP_525124	Q8WXQ8	CBPA5_HUMAN	Homo sapiens carboxypeptidase A5 (CPA5), transcript variant 2, mRNA.	382					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					TGGGATCACCGTCGACTGGGC	0.557000														75			36		0	0	0.00148497	0	0
MXRA5	25878	broad.mit.edu	37	X	3239556	3239556	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:3239556C>G	uc004crg.4	-	4	4327	c.4170G>C	c.(4168-4170)agG>agC	p.R1390S		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1390						extracellular region		p.R1390W(1)		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)				CTGTCTGTAGCCTCCCAGGCT	0.498000														4			5		0	0	0.000602214	0	0
SEMA3F	6405	broad.mit.edu	37	3	50211368	50211368	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:50211368C>T	uc003cyj.3	+	2	453	c.255C>T	c.(253-255)atC>atT	p.I85I	SEMA3F_uc003cyk.3_Silent_p.I85I	NM_004186	NP_004177	Q13275	SEM3F_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F (SEMA3F), mRNA.	85	Sema.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		TGCACGACATCAACCGCGAGC	0.617000														16			19		0	0	0.00047179	0	0
OR52D1	390066	broad.mit.edu	37	11	5510206	5510206	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:5510206C>T	uc010qzg.2	+	0	292	c.270C>T	c.(268-270)ctC>ctT	p.L90L	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001005163	NP_001005163	Q9H346	O52D1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily D, member 1 (OR52D1), mRNA.	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTTTGTGGCTCCATGCTGGTG	0.502000														12			13		0	0	0.00136819	0	0
MGAT3	4248	broad.mit.edu	37	22	39884365	39884365	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr22:39884365A>C	uc003axv.4	+	1	1252	c.1013A>C	c.(1012-1014)gAg>gCg	p.E338A	MGAT3_uc010gxy.3_Missense_Mutation_p.E338A	NM_002409	NP_002400	Q09327	MGAT3_HUMAN	Homo sapiens mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase (MGAT3), transcript variant 1, mRNA.	338					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					GGCTGGACCGAGCCCTTCGCC	0.632000														61			52		0	0	0.000781405	0	0
TNIP1	10318	broad.mit.edu	37	5	150413312	150413312	+	Missense_Mutation	SNP	C	G	G	rs144751861		TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:150413312C>G	uc003lti.3	-	15	1877	c.1636G>C	c.(1636-1638)Ggg>Cgg	p.G546R	TNIP1_uc011dcn.2_Missense_Mutation_p.G64R|TNIP1_uc010jhq.2_Intron|TNIP1_uc010jho.2_Intron|TNIP1_uc010jhp.2_Intron|TNIP1_uc010jhl.3_Intron|TNIP1_uc010jhn.3_Intron|TNIP1_uc010jhm.3_Intron|TNIP1_uc010jhr.2_Missense_Mutation_p.G546R|TNIP1_uc011dco.2_Missense_Mutation_p.G546R|TNIP1_uc003ltg.3_Missense_Mutation_p.G493R|TNIP1_uc003ltk.3_Missense_Mutation_p.G546R|TNIP1_uc003ltj.3_Missense_Mutation_p.G546R|TNIP1_uc021ygb.1_Missense_Mutation_p.G546R	NM_006058	NP_006049	Q15025	TNIP1_HUMAN	Homo sapiens TNFAIP3 interacting protein 1 (TNIP1), transcript variant 5, mRNA.	546	Pro-rich.				defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGTAGGCCCCGCAGAGATGT	0.632000														70			5		0	0	0.000602214	0	0
MDN1	23195	broad.mit.edu	37	6	90409393	90409393	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:90409393G>A	uc003pnn.1	-	57	9040	c.8924C>T	c.(8923-8925)tCa>tTa	p.S2975L		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	2975					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AAGACAAAATGAGATGAGGTG	0.413000														11			35		0	0	0.000692331	0	0
CCDC147	159686	broad.mit.edu	37	10	106153215	106153215	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:106153215G>A	uc001kyh.3	+	10	1790	c.1656G>A	c.(1654-1656)aaG>aaA	p.K552K		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	Homo sapiens coiled-coil domain containing 147 (CCDC147), mRNA.	552										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		GAATAGAAAAGGAAAAGGAAA	0.473000														10			10		0	0	0.000673444	0	0
GRIP1	23426	broad.mit.edu	37	12	66838422	66838422	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:66838422G>A	uc001stk.3	-	11	1714	c.1473C>T	c.(1471-1473)ctC>ctT	p.L491L	GRIP1_uc010sta.1_Silent_p.L435L|GRIP1_uc001stj.3_Silent_p.L273L|GRIP1_uc001stm.3_Silent_p.L491L|GRIP1_uc001stl.1_Silent_p.L383L	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	Homo sapiens glutamate receptor interacting protein 1 (GRIP1), transcript variant 1, mRNA.	543	PDZ 4.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		AGTCTCGGAGGAGCTGACTGG	0.458000														51			43		0	0	0.000781405	0	0
FBXO7	25793	broad.mit.edu	37	22	32894465	32894465	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr22:32894465C>T	uc003amq.3	+	8	1800	c.1517C>T	c.(1516-1518)cCc>cTc	p.P506L	FBXO7_uc003amt.3_Missense_Mutation_p.P427L|FBXO7_uc003amu.3_Missense_Mutation_p.P392L|FBXO7_uc003amv.3_Missense_Mutation_p.P205L	NM_012179	NP_036311	Q9Y3I1	FBX7_HUMAN	Homo sapiens F-box protein 7 (FBXO7), transcript variant 1, mRNA.	506					cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.P506S(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GACAGATTTCCCTTTAGACCC	0.507000														13			14		0	0	0.00185496	0	0
USP26	83844	broad.mit.edu	37	X	132161704	132161704	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:132161704C>T	uc011mvf.2	-	0	597	c.545G>A	c.(544-546)aGa>aAa	p.R182K	USP26_uc010nrm.1_Missense_Mutation_p.R182K	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA.	182					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					TGAGAGCATTCTTTTCCTCTT	0.403000														3			22		0	0	0.000720815	0	0
abParts	0	broad.mit.edu	37	14	107066207	107066207	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:107066207G>A	uc021ser.1	-	145		c.6383_splice	c.e145-1							Parts of antibodies, mostly variable regions.																		TCCAGTCCATGGTGAGGAGCT	0.547000														15			6		0	0	0.00116845	0	0
GGT5	2687	broad.mit.edu	37	22	24621549	24621549	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr22:24621549C>T	uc002zzp.4	-	8	1718	c.1301G>A	c.(1300-1302)cGa>cAa	p.R434Q	GGT5_uc002zzo.4_Missense_Mutation_p.R434Q|GGT5_uc002zzr.4_Missense_Mutation_p.R402Q|GGT5_uc002zzq.4_Missense_Mutation_p.R402Q|GGT5_uc011ajm.2_Missense_Mutation_p.R357Q	NM_001099781	NP_001093251	P36269	GGT5_HUMAN	Homo sapiens gamma-glutamyltransferase 5 (GGT5), transcript variant 1, mRNA.	434					glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						CCGGGGGCATCGCTCGCATAA	0.647000														17			13		0	0	0.00074312	0	0
LHX3	8022	broad.mit.edu	37	9	139089572	139089572	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:139089572C>T	uc004cgz.3	-	5	927	c.808G>A	c.(808-810)Gaa>Aaa	p.E270K	LHX3_uc022bpm.1_3'UTR|LHX3_uc004cha.3_Missense_Mutation_p.E265K	NM_014564	NP_055379	Q9UBR4	LHX3_HUMAN	Homo sapiens LIM homeobox 3 (LHX3), transcript variant 2, mRNA.	265					inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		GGGCCCATTTCCGCCAAGGAA	0.682000														10			5		0	0	0.00198382	0	0
MLL2	8085	broad.mit.edu	37	19	36218862	36218863	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:36218862_36218863CC>TT	uc021usv.1	+	17	4473_4474	c.4473_4474CC>TT	c.(4471-4476)ggccag>ggTTag	p.Q1492*	MLL2_uc021usu.1_Nonsense_Mutation_p.Q306*	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	0	Cys-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GGGCTGGAGGCCAGATGAAGGG	0.644000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				2			7		0	0	6.4e-05	0	0
INTS4	92105	broad.mit.edu	37	11	77672163	77672163	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:77672163C>A	uc001oys.3	-	4	521	c.493G>T	c.(493-495)Ggt>Tgt	p.G165C	INTS4_uc001oyt.3_Non-coding_Transcript|INTS4_uc001oyu.1_Missense_Mutation_p.G165C	NM_033547	NP_291025	Q96HW7	INT4_HUMAN	Homo sapiens integrator complex subunit 4 (INTS4), mRNA.	165					snRNA processing	integrator complex	protein binding		INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			TTTCTTACACCATGAGACGTA	0.348000														101			7		0.00198382	0.00892858	0.00198382	1	0
TTC18	118491	broad.mit.edu	37	10	75082781	75082781	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:75082781C>T	uc009xrc.3	-	9	1183	c.1062G>A	c.(1060-1062)gtG>gtA	p.V354V	TTC18_uc001jty.3_Silent_p.V354V|TTC18_uc009xrd.1_Silent_p.V162V	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN	Homo sapiens tetratricopeptide repeat domain 18 (TTC18), mRNA.	354							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					GAATTCTCTTCACACCTGGAT	0.373000														45			26		0	0	0.00127121	0	0
ZNF501	115560	broad.mit.edu	37	3	44776471	44776471	+	Silent	SNP	A	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:44776471A>T	uc003cnu.1	+	2	959	c.558A>T	c.(556-558)ggA>ggT	p.G186G	ZNF501_uc021wwq.1_Silent_p.G186G	NM_145044	NP_659481	Q96CX3	ZN501_HUMAN	Homo sapiens zinc finger protein 501 (ZNF501), mRNA.	186					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00843)|KIRC - Kidney renal clear cell carcinoma(197;0.0463)|Kidney(197;0.0579)		TTCATTCAGGAGAGAAGCCCT	0.408000														27			19		0	0	0.000958276	0	0
IFNW1	3467	broad.mit.edu	37	9	21141139	21141139	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:21141139C>T	uc003zol.1	-	0	1006	c.431G>A	c.(430-432)aGg>aAg	p.R144K		NM_002177	NP_002168	P05000	IFNW1_HUMAN	Homo sapiens interferon, omega 1 (IFNW1), mRNA.	144					cell cycle arrest|defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|lung(2)|ovary(1)	5				GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GAAGTACCTCCTCAAGGTCAG	0.498000														27			14		0	0	0.000219431	0	0
PHF6	84295	broad.mit.edu	37	X	133551252	133551252	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:133551252C>T	uc004exj.3	+	8	1090	c.888C>T	c.(886-888)gcC>gcT	p.A296A	PHF6_uc004exk.3_Silent_p.A296A|PHF6_uc011mvk.2_Silent_p.A262A|PHF6_uc004exi.3_Silent_p.A297A	NM_001015877	NP_115834	Q8IWS0	PHF6_HUMAN	Homo sapiens PHD finger protein 6 (PHF6), transcript variant 1, mRNA.	296					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1)	103	Acute lymphoblastic leukemia(192;0.000127)					AAATAAAAGCCTGTGTTAAGA	0.353000			"""F, N, Splice, Mis"""		ETP ALL									10			37		0	0	0.00128727	0	0
DHRSX	207063	broad.mit.edu	37	X	2184888	2184888	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:2184888C>A	uc004cqf.4	-	4	538	c.489G>T	c.(487-489)ttG>ttT	p.L163F		NM_145177	NP_660160	Q8N5I4	DHRSX_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) X-linked (DHRSX), mRNA.	163							binding|oxidoreductase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TCAGCGTATCCAAGAGAAGGT	0.552000														201			10		0.000442599	0.00201478	0.000442599	1	0
AKAP4	8852	broad.mit.edu	37	X	49958662	49958662	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:49958662C>T	uc004dow.1	-	4	826	c.702G>A	c.(700-702)aaG>aaA	p.K234K	AKAP4_uc004dou.1_Silent_p.K225K|AKAP4_uc004dov.1_Intron|AKAP4_uc010njp.1_Silent_p.K56K	NM_003886	NP_647450	Q5JQC9	AKAP4_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 4 (AKAP4), transcript variant 1, mRNA.	234					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					CCTTGATTTCCTTATGGGCCA	0.458000														8			22		0	0	0.000375601	0	0
SH3TC1	54436	broad.mit.edu	37	4	8242471	8242471	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:8242471C>T	uc003gkv.4	+	17	3901	c.3800C>T	c.(3799-3801)gCc>gTc	p.A1267V	SH3TC1_uc003gkw.4_Missense_Mutation_p.A1191V|SH3TC1_uc003gkx.4_Non-coding_Transcript|SH3TC1_uc003gky.3_Non-coding_Transcript	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA.	1267							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CTGGCAGCCGCCGTGGACCTG	0.612000														32			31		0	0	0.00209593	0	0
MPP3	4356	broad.mit.edu	37	17	41898295	41898295	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:41898295C>T	uc002ieh.3	-	8	1152	c.891G>A	c.(889-891)caG>caA	p.Q297Q	MPP3_uc002iei.4_Silent_p.Q272Q|MPP3_uc002iej.3_Non-coding_Transcript|MPP3_uc010czi.2_Silent_p.Q272Q|MPP3_uc010wik.2_Silent_p.Q297Q	NM_001932	NP_001923	Q13368	MPP3_HUMAN	Homo sapiens membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3) (MPP3), transcript variant 1, mRNA.	272					signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		CTCGCTTGGCCTGCCACCACG	0.677000														23			12		0	0	0.000978159	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140773672	140773672	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:140773672C>T	uc003lkd.2	+	0	2190	c.1292C>T	c.(1291-1293)cCt>cTt	p.P431L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_Missense_Mutation_p.P431L|PCDHGC5_uc003lkc.2_Intron	NM_032088	NP_114477	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 8 (PCDHGA8), transcript variant 1, mRNA.	433	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAACACCACCTCTGTCCACT	0.428000														18			11		0	0	0.00136819	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140740020	140740020	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:140740020C>T	uc003ljs.2	+	0	318	c.318C>T	c.(316-318)ttC>ttT	p.F106F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc011dar.2_Silent_p.F106F	NM_018923	NP_061746	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 2 (PCDHGB2), transcript variant 1, mRNA.	106	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.F106F(2)		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)			TTCTGGATTTCGATACTGTCG	0.383000														71			39		0	0	0.00148497	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72055757	72055757	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:72055757G>A	uc001xms.3	+	1	1529	c.1168G>A	c.(1168-1170)Gag>Aag	p.E390K	SIPA1L1_uc001xmt.3_Missense_Mutation_p.E390K|SIPA1L1_uc001xmu.3_Missense_Mutation_p.E390K|SIPA1L1_uc001xmv.3_Missense_Mutation_p.E390K	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	390					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	p.E390E(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GGGCAGCACAGAGGACCTGAA	0.512000														28			18		0	0	0.000958276	0	0
SEC24D	9871	broad.mit.edu	37	4	119727032	119727032	+	Silent	SNP	G	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:119727032G>T	uc003ici.4	-	6	1151	c.879C>A	c.(877-879)ccC>ccA	p.P293P	SEC24D_uc003icj.4_Silent_p.P294P|SEC24D_uc003icl.2_Non-coding_Transcript|SEC24D_uc010imz.1_Non-coding_Transcript|SEC24D_uc011cgg.1_Non-coding_Transcript	NM_014822	NP_055637	O94855	SC24D_HUMAN	Homo sapiens SEC24 family, member D (S. cerevisiae) (SEC24D), mRNA.	293	Pro-rich.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						TAGTGACCAGGGGAGGGATCT	0.393000														84			6		0.00198382	0.00892858	0.00198382	1	0
GUCY1A2	2977	broad.mit.edu	37	11	106810351	106810351	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:106810351C>T	uc009yxn.1	-	3	1431	c.1041G>A	c.(1039-1041)agG>agA	p.R347R	GUCY1A2_uc001pjg.1_Silent_p.R347R|GUCY1A2_uc010rvo.1_Silent_p.R347R	NM_000855	NP_000846	P33402	GCYA2_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 2 (GUCY1A2), transcript variant 2, mRNA.	347					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	p.L346L(1)		breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		GAAGCTGCTTCCTTAGACCTT	0.483000														15			10		0	0	0.000442599	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140746222	140746222	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:140746222C>T	uc003lju.2	+	0	2325	c.2325C>T	c.(2323-2325)taC>taT	p.Y775Y	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_uc011das.2_Silent_p.Y775Y	NM_018918	NP_061741	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 5 (PCDHGA5), transcript variant 1, mRNA.	784					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)			AGCCCAACTACGCAGACACGC	0.537000														98			56		0	0	0.000781405	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140248955	140248955	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:140248955G>A	uc003lia.2	+	0	1125	c.267G>A	c.(265-267)cgG>cgA	p.R89R	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Silent_p.R89R	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	104	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAATTCTCGGATCGACCGCG	0.592000														148			95		0	0	0.000781405	0	0
SCEL	8796	broad.mit.edu	37	13	78183195	78183195	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr13:78183195C>T	uc001vki.3	+	20	1390	c.1220C>T	c.(1219-1221)tCc>tTc	p.S407F	SCEL_uc010thx.2_Missense_Mutation_p.S365F|SCEL_uc001vkj.3_Missense_Mutation_p.S387F	NM_144777	NP_659001	O95171	SCEL_HUMAN	Homo sapiens sciellin (SCEL), transcript variant 1, mRNA.	407	16 X approximate tandem repeats.				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		GTTTGAAGTTCCAAAGACCTT	0.269000														24			16		0	0	0.000566183	0	0
PAK7	57144	broad.mit.edu	37	20	9525085	9525085	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:9525085C>T	uc002wnl.2	-	8	2345	c.1800G>A	c.(1798-1800)agG>agA	p.R600R	PAK7_uc002wnk.2_Silent_p.R600R|PAK7_uc002wnj.2_Silent_p.R600R|PAK7_uc010gby.1_Intron	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	600	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CCAATGATTTCCTCTTCGGCA	0.453000														43			42		0	0	0.00222228	0	0
CSMD2	114784	broad.mit.edu	37	1	34286138	34286138	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:34286138G>A	uc001bxm.1	-	7	1308	c.1131C>T	c.(1129-1131)tcC>tcT	p.S377S	CSMD2_uc001bxn.1_Silent_p.S337S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	337	Sushi 2.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TATGTCCTTGGGACACACCAA	0.438000														71			56		0	0	0.000781405	0	0
EMB	133418	broad.mit.edu	37	5	49699072	49699072	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:49699072G>A	uc003jom.3	-	5	1066	c.817C>T	c.(817-819)Ctt>Ttt	p.L273F	EMB_uc010ivq.3_Missense_Mutation_p.L67F|EMB_uc003jol.3_Missense_Mutation_p.L204F|EMB_uc011cpy.2_Missense_Mutation_p.L223F	NM_198449	NP_940851	Q6PCB8	EMB_HUMAN	Homo sapiens embigin (EMB), mRNA.	273						integral to membrane				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				GCCACTAAAAGAATCACCTCA	0.383000														13			12		0	0	0.000422831	0	0
MUC16	94025	broad.mit.edu	37	19	9087450	9087450	+	Silent	SNP	G	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:9087450G>T	uc002mkp.3	-	0	4569	c.4365C>A	c.(4363-4365)ctC>ctA	p.L1455L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1455	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTGCCATGGGGAGAGTGATTG	0.488000														40			39		3.21399e-22	1.48641e-21	0.000953801	1	0
LAMB3	3914	broad.mit.edu	37	1	209796339	209796339	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:209796339C>T	uc001hhg.3	-	15	2934	c.2544G>A	c.(2542-2544)cgG>cgA	p.R848R	LAMB3_uc009xco.3_Silent_p.R848R|LAMB3_uc001hhh.3_Silent_p.R848R|LAMB3_uc010psl.1_Non-coding_Transcript	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	848	Domain I.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		TCTGCCTGGTCCGCTGGAGCT	0.652000														134			47		0	0	0.000781405	0	0
KRT77	374454	broad.mit.edu	37	12	53096951	53096951	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:53096951C>T	uc001saw.3	-	0	297	c.268G>A	c.(268-270)Gga>Aga	p.G90R	KRT77_uc009zmi.3_5'UTR	NM_175078	NP_778253	Q7Z794	K2C1B_HUMAN	Homo sapiens keratin 77 (KRT77), mRNA.	90	Head.					keratin filament	structural molecule activity			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						CCTCCAAATCCCCCTACTCCC	0.572000														4			6		0	0	0.00198382	0	0
ALKBH7	84266	broad.mit.edu	37	19	6374579	6374579	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:6374579C>T	uc002meo.2	+	2	870	c.482C>T	c.(481-483)cCg>cTg	p.P161L		NM_032306	NP_115682	Q9BT30	ALKB7_HUMAN	Homo sapiens alkB, alkylation repair homolog 7 (E. coli) (ALKBH7), mRNA.	161						extracellular region|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|kidney(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						TTGCTGGAGCCGGGCTCCCTC	0.642000														20			7		0	0	0.00198382	0	0
ATR	545	broad.mit.edu	37	3	142281766	142281767	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:142281766_142281767GG>AA	uc003eux.4	-	3	599_600	c.477_478CC>TT	c.(475-480)ctccat>ctTTat	p.H160Y		NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	160					DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TTTCTTCTATGGAGGTAAACCA	0.361000								Other conserved DNA damage response genes						72			42		0	0	6.4e-05	0	0
SLC22A12	116085	broad.mit.edu	37	11	64367873	64367873	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:64367873G>A	uc001oam.1	+	7	2067	c.1320G>A	c.(1318-1320)ctG>ctA	p.L440L	SLC22A12_uc001oal.1_Silent_p.L219L|SLC22A12_uc009yps.1_Silent_p.L406L|SLC22A12_uc001oan.1_Silent_p.L332L|SLC22A12_uc009ypt.3_Silent_p.L258L	NM_144585	NP_700357	Q96S37	S22AC_HUMAN	Homo sapiens solute carrier family 22 (organic anion/urate transporter), member 12 (SLC22A12), transcript variant 1, mRNA.	440					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						TGGCCGTGCTGGGGCTGGGCG	0.642000														14			8		0	0	0.000274275	0	0
ZNF735	730291	broad.mit.edu	37	7	63674484	63674484	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:63674484C>T	uc011kdn.2	+	2	260	c.260C>T	c.(259-261)cCa>cTa	p.P87L		NM_001159524	NP_001152996	P0CB33	ZN735_HUMAN	Homo sapiens zinc finger protein 735 (ZNF735), mRNA.	87	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										GCCAAACACCCAGGTAGGTGA	0.453000														24			13		0	0	0.00185496	0	0
METTL19	152992	broad.mit.edu	37	4	8477615	8477615	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:8477615T>C	uc003glg.2	+	10	2179	c.2161T>C	c.(2161-2163)Ttc>Ctc	p.F721L	METTL19_uc003glh.1_Missense_Mutation_p.F329L|METTL19_uc003gli.1_Non-coding_Transcript	NM_152544	NP_689757	Q8IYL2	TRM44_HUMAN	Homo sapiens methyltransferase like 19 (METTL19), transcript variant 2, mRNA.	721					tRNA processing	cytoplasm	methyltransferase activity|nucleic acid binding|zinc ion binding			kidney(1)|lung(6)|ovary(3)|prostate(1)	11						CCTCTGCTGGTTCTTCATGCA	0.617000														77			57		0	0	0.000781405	0	0
ILDR2	387597	broad.mit.edu	37	1	166891849	166891849	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:166891849G>A	uc001gdx.2	-	7	1248	c.1192C>T	c.(1192-1194)Cga>Tga	p.R398*		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 2 (ILDR2), mRNA.	398						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						AAGCTCTCTCGATCCTCTTTG	0.597000														248			79		0	0	0.000781405	0	0
OR2T27	403239	broad.mit.edu	37	1	248813307	248813307	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:248813307C>T	uc010pzo.2	-	0	879	c.879G>A	c.(877-879)agG>agA	p.R293R		NM_001001824	NP_001001824	Q8NH04	O2T27_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 27 (OR2T27), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CATCCTTGTTCCTAAGGCTGT	0.483000														61			26		0	0	0.00127121	0	0
ASPM	259266	broad.mit.edu	37	1	197071094	197071094	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:197071094G>A	uc001gtu.3	-	17	7544	c.7287C>T	c.(7285-7287)tcC>tcT	p.S2429S	ASPM_uc001gtv.3_Intron|ASPM_uc001gtw.4_Silent_p.S277S	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	2429	IQ 25.				mitosis	cytoplasm|nucleus	calmodulin binding	p.I2428F(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTTTTTTGAGGGAAATGAATC	0.378000														11			5		0	0	0.000602214	0	0
MUC16	94025	broad.mit.edu	37	19	9048603	9048603	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:9048603G>A	uc002mkp.3	-	4	33232	c.33028C>T	c.(33028-33030)Cct>Tct	p.P11010S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11012	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTTCACCAGGAGAAAGAGTC	0.507000														28			12		0	0	0.00185496	0	0
KIF1B	23095	broad.mit.edu	37	1	10383972	10383972	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:10383972A>G	uc001aqx.4	+	24	2591	c.2389A>G	c.(2389-2391)Aca>Gca	p.T797A	KIF1B_uc001aqw.4_Missense_Mutation_p.T751A|KIF1B_uc001aqy.3_Missense_Mutation_p.T771A|KIF1B_uc001aqz.3_Missense_Mutation_p.T797A|KIF1B_uc001ara.3_Missense_Mutation_p.T757A|KIF1B_uc001arb.3_Missense_Mutation_p.T783A	NM_015074	NP_055889	O60333	KIF1B_HUMAN	Homo sapiens kinesin family member 1B (KIF1B), transcript variant 1, mRNA.	797					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GCTGACTGACACACTGTACTC	0.443000														60			33		0	0	0.00128727	0	0
DDX53	168400	broad.mit.edu	37	X	23018584	23018584	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:23018584A>T	uc004daj.3	+	0	507	c.410A>T	c.(409-411)aAt>aTt	p.N137I		NM_182699	NP_874358	Q86TM3	DDX53_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 (DDX53), mRNA.	137						nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						ATTGGAAGAAATCTAGGCAGA	0.438000														11			52		0	0	0.000781405	0	0
EFHD2	79180	broad.mit.edu	37	1	15752394	15752394	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:15752394C>T	uc001awh.2	+	1	413	c.336C>T	c.(334-336)atC>atT	p.I112I		NM_024329	NP_077305	Q96C19	EFHD2_HUMAN	Homo sapiens EF-hand domain family, member D2 (EFHD2), mRNA.	112	EF-hand 1.					membrane raft				large_intestine(1)|skin(1)	2		Renal(390;0.00145)|Breast(348;0.00173)|Colorectal(325;0.00215)|all_lung(284;0.00366)|Lung NSC(340;0.00395)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)|Hepatocellular(190;0.152)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.59e-07)|COAD - Colon adenocarcinoma(227;3.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000119)|KIRC - Kidney renal clear cell carcinoma(229;0.00251)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		ACGGCTTCATCGACCTGATGG	0.542000														68			48		0	0	0.000781405	0	0
CES4A	283848	broad.mit.edu	37	16	67029612	67029612	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:67029612C>T	uc002eqv.3	+	1	324	c.209C>T	c.(208-210)cCc>cTc	p.P70L	CES4A_uc010vix.2_Missense_Mutation_p.P47L|CES4A_uc002eqw.3_Missense_Mutation_p.P7L	NM_001190201	NP_001177130	Q5XG92	EST4A_HUMAN	Homo sapiens carboxylesterase 4A (CES4A), transcript variant 3, mRNA.	47						extracellular region	carboxylesterase activity			large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						GGGAAGACACCCATCCAAGTC	0.522000														40			32		0	0	0.00058488	0	0
ZC3H12B	340554	broad.mit.edu	37	X	64721966	64721966	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:64721966C>T	uc010nko.3	+	4	1455	c.1388C>T	c.(1387-1389)cCc>cTc	p.P463L		NM_001010888	NP_001010888	Q5HYM0	ZC12B_HUMAN	Homo sapiens zinc finger CCCH-type containing 12B (ZC3H12B), mRNA.	452							endonuclease activity|nucleic acid binding|zinc ion binding	p.P313H(1)|p.P399H(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGTTCTGTCCCCTCGCTTGTG	0.607000														2			15		0	0	0.000308642	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18889697	18889697	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:18889697C>T	uc003zne.4	+	24	4746	c.4594C>T	c.(4594-4596)Cgc>Tgc	p.R1532C	ADAMTSL1_uc003znf.4_Missense_Mutation_p.R233C	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	1532						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.R1532C(1)		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)		AGGGAAGGTTCGCCCTGCGGT	0.667000														8			5		0	0	0.00116845	0	0
EEF1A2	1917	broad.mit.edu	37	20	62120348	62120348	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:62120348G>A	uc002yfe.1	-	6	1353	c.1187C>T	c.(1186-1188)tCt>tTt	p.S396F		NM_001958	NP_001949	Q05639	EF1A2_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 alpha 2 (EEF1A2), mRNA.	396						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			CGCGTCTCCAGACTTCAGGGA	0.627000														73			25		0	0	0.00178596	0	0
MYH11	4629	broad.mit.edu	37	16	15841753	15841753	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:15841753C>T	uc002ddx.3	-	18	2356	c.2249G>A	c.(2248-2250)gGg>gAg	p.G750E	MYH11_uc002ddv.3_Missense_Mutation_p.G750E|MYH11_uc002ddw.3_Missense_Mutation_p.G743E|MYH11_uc002ddy.3_Missense_Mutation_p.G743E|MYH11_uc010bvg.3_Missense_Mutation_p.G575E	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	743	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle	p.M750T(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GGCCTGCTTCCCGTCCATGAA	0.587000			T	CBFB	AML									32			10		0	0	0.00185496	0	0
SYT3	84258	broad.mit.edu	37	19	51140539	51140539	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:51140539G>A	uc002pst.3	-	0	764	c.130C>T	c.(130-132)Ccc>Tcc	p.P44S	SYT3_uc002psv.3_Missense_Mutation_p.P44S|SYT3_uc010ycd.2_Missense_Mutation_p.P44S|Mir_324_uc021uye.1_5'Flank	NM_032298	NP_115674	Q9BQG1	SYT3_HUMAN	Homo sapiens synaptotagmin III (SYT3), transcript variant 1, mRNA.	44						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)		GGACCCCGGGGATAGCCTCGG	0.627000														47			31		0	0	0.000491102	0	0
PCSK5	5125	broad.mit.edu	37	9	78682918	78682918	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:78682918C>T	uc004akc.2	+	5	1218	c.680C>T	c.(679-681)tCg>tTg	p.S227L	PCSK5_uc004ajy.2_Missense_Mutation_p.S227L|PCSK5_uc004ajz.3_Missense_Mutation_p.S227L|PCSK5_uc004aka.3_Non-coding_Transcript	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	227	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GCAAACAATTCGCACTGCACA	0.512000														70			54		0	0	0.000781405	0	0
PRPH2	5961	broad.mit.edu	37	6	42666149	42666149	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:42666149C>T	uc003osk.3	-	2	1211	c.925G>A	c.(925-927)Gag>Aag	p.E309K		NM_000322	NP_000313	P23942	PRPH2_HUMAN	Homo sapiens peripherin 2 (retinal degeneration, slow) (PRPH2), mRNA.	309					cell adhesion|visual perception	integral to membrane		p.E309K(2)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			ACGCTCCTCTCCAGCAGCCAG	0.627000														32			18		0	0	0.00229938	0	0
PLD1	5337	broad.mit.edu	37	3	171395396	171395396	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:171395396G>A	uc003fhs.3	-	16	2303	c.1956C>T	c.(1954-1956)ttC>ttT	p.F652F	PLD1_uc003fht.3_Silent_p.F614F|PLD1_uc003fhu.4_5'Flank|PLD1_uc003fhv.1_5'UTR	NM_002662	NP_002653	Q13393	PLD1_HUMAN	Homo sapiens phospholipase D1, phosphatidylcholine-specific (PLD1), transcript variant 1, mRNA.	652	Catalytic.				Ras protein signal transduction|cell communication|chemotaxis	Golgi membrane|endoplasmic reticulum membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	p.F652F(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	CTTTGAAGACGAAATTGCAGT	0.448000														45			29		0	0	0.00209593	0	0
IQCA1	79781	broad.mit.edu	37	2	237285791	237285791	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:237285791C>T	uc002vwb.2	-	12	1574	c.1540G>A	c.(1540-1542)Gga>Aga	p.G514R	IQCA1_uc002vvz.1_Missense_Mutation_p.G506R|IQCA1_uc002vwa.1_Non-coding_Transcript|IQCA1_uc010zni.1_Missense_Mutation_p.G465R	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN	Homo sapiens IQ motif containing with AAA domain 1 (IQCA1), mRNA.	506							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						ATCAGTAATCCTTCTTCCACC	0.453000														51			27		0	0	0.001512	0	0
SLC10A1	6554	broad.mit.edu	37	14	70263759	70263759	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:70263759G>A	uc001xlr.2	-	0	248	c.114C>T	c.(112-114)atC>atT	p.I38I		NM_003049	NP_003040	Q14973	NTCP_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 1 (SLC10A1), mRNA.	38					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)	14				all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226)		GCGAGAGCATGATGAAGAACA	0.562000														25			23		0	0	0.00229938	0	0
MUC16	94025	broad.mit.edu	37	19	9083313	9083313	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:9083313C>T	uc002mkp.3	-	0	8706	c.8502G>A	c.(8500-8502)acG>acA	p.T2834T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2834	Ser-rich.|Thr-rich.		T -> M (in dbSNP:rs10407623).		cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCAGTCTGTTCGTGGTGATTT	0.507000														8			6		0	0	0.00116845	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140793665	140793665	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:140793665C>T	uc003lkl.2	+	0	923	c.923C>T	c.(922-924)tCa>tTa	p.S308L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc011day.2_Missense_Mutation_p.S308L	NM_018913	NP_061736	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 10 (PCDHGA10), transcript variant 1, mRNA.	305	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P307T(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATAAAAATATCAGAAAATCTA	0.343000														18			7		0	0	0.000157383	0	0
CCDC40	55036	broad.mit.edu	37	17	78023898	78023898	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:78023898G>A	uc010dht.3	+	6	1006	c.975G>A	c.(973-975)caG>caA	p.Q325Q	CCDC40_uc010wub.2_Silent_p.Q325Q|CCDC40_uc021uem.1_Silent_p.Q325Q|CCDC40_uc002jxm.4_Silent_p.Q108Q	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	Homo sapiens coiled-coil domain containing 40 (CCDC40), transcript variant 1, mRNA.	325					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CCCAGCGGCAGGAGCTGGGGG	0.622000														14			44		0	0	0.000781405	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140740377	140740377	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:140740377G>A	uc003ljs.2	+	0	675	c.675G>A	c.(673-675)acG>acA	p.T225T	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc011dar.2_Silent_p.T225T	NM_018923	NP_061746	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 2 (PCDHGB2), transcript variant 1, mRNA.	225	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G224V(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAGTGGCACGACCCAAATCC	0.542000														31			45		0	0	0.000781405	0	0
ATP13A3	79572	broad.mit.edu	37	3	194134539	194134539	+	Silent	SNP	T	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:194134539T>A	uc003fty.4	-	30	3834	c.3432A>T	c.(3430-3432)gtA>gtT	p.V1144V	ATP13A3_uc003ftx.4_Silent_p.V23V	NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	Homo sapiens ATPase type 13A3 (ATP13A3), mRNA.	1144					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		TGAGCATAGTTACACGCCACT	0.348000														126			95		0	0	0.000781405	0	0
RYR1	6261	broad.mit.edu	37	19	38997535	38997535	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:38997535G>A	uc002oit.3	+	56	8889	c.8759G>A	c.(8758-8760)cGa>cAa	p.R2920Q	RYR1_uc002oiu.3_Missense_Mutation_p.R2920Q|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	2920	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCACGAGATCGAGAGAAGGCC	0.622000														20			29		0	0	0.000692331	0	0
TMEM62	80021	broad.mit.edu	37	15	43476732	43476732	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:43476732C>T	uc001zqr.3	+	13	2159	c.1880C>T	c.(1879-1881)tCc>tTc	p.S627F	TMEM62_uc010bda.3_Missense_Mutation_p.S462F|CCNDBP1_uc021sjs.1_5'Flank|CCNDBP1_uc001zqv.3_5'Flank|CCNDBP1_uc010udl.2_5'Flank|CCNDBP1_uc021sjt.1_5'Flank|CCNDBP1_uc021sju.1_5'Flank|CCNDBP1_uc010bdb.3_5'Flank|CCNDBP1_uc001zqy.3_5'Flank	NM_024956	NP_079232	Q0P6H9	TMM62_HUMAN	Homo sapiens transmembrane protein 62 (TMEM62), mRNA.	627						integral to membrane				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		ACACTGAACTCCACCAAGTTT	0.507000														66			39		0	0	0.00111076	0	0
LONRF2	164832	broad.mit.edu	37	2	100910764	100910764	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:100910764G>A	uc002tal.4	-	8	2324	c.1684C>T	c.(1684-1686)Cgg>Tgg	p.R562W	LONRF2_uc010yvs.2_Non-coding_Transcript	NM_198461	NP_940863	Q1L5Z9	LONF2_HUMAN	Homo sapiens LON peptidase N-terminal domain and ring finger 2 (LONRF2), mRNA.	562	Lon.		R -> W (in a colorectal cancer sample; somatic mutation).		proteolysis		ATP-dependent peptidase activity|zinc ion binding	p.R562W(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						ATCATAAGCCGATAGCGGGGC	0.527000														51			27		0	0	0.00106085	0	0
PER3	8863	broad.mit.edu	37	1	7861197	7861197	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:7861197G>A	uc001aop.3	+	6	1042	c.818G>A	c.(817-819)aGa>aAa	p.R273K	PER3_uc009vmg.1_Missense_Mutation_p.R273K|PER3_uc009vmh.1_Missense_Mutation_p.R273K|PER3_uc001aoo.3_Missense_Mutation_p.R272K|PER3_uc010nzw.2_5'UTR|PER3_uc001aon.3_Missense_Mutation_p.R272K	NM_016831	NP_058515	P56645	PER3_HUMAN	Homo sapiens period homolog 3 (Drosophila) (PER3), mRNA.	272	PAS 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		GTGAATAAAAGAATCTTCACC	0.333000														94			68		0	0	0.000781405	0	0
HEATR6	63897	broad.mit.edu	37	17	58145003	58145003	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:58145003G>T	uc002iyk.1	-	7	1047	c.1030C>A	c.(1030-1032)Cca>Aca	p.P344T	HEATR6_uc010ddk.1_5'Flank|HEATR6_uc010wos.1_Missense_Mutation_p.P176T	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	Homo sapiens HEAT repeat containing 6 (HEATR6), mRNA.	344							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			CCAGTGACTGGGGCTGCCTCT	0.483000														73			6		0.00116845	0.00528496	0.00116845	1	0
abParts	0	broad.mit.edu	37	14	106926359	106926359	+	RNA	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:106926359C>T	uc021ser.1	-	325		c.11509G>A								Parts of antibodies, mostly variable regions.																		CCAGACCCTTCCCCGGAGCTT	0.542000														42			18		0	0	0.000958276	0	0
PTPRT	11122	broad.mit.edu	37	20	40727103	40727103	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:40727103G>A	uc002xkg.3	-	26	3988	c.3804C>T	c.(3802-3804)aaC>aaT	p.N1268N	PTPRT_uc010ggj.3_Silent_p.N1287N|PTPRT_uc010ggi.3_Silent_p.N471N	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	1268	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CAGAGGAGCAGTTGTAATCGA	0.592000														33			77		0	0	0.000781405	0	0
CEP44	80817	broad.mit.edu	37	4	175237393	175237393	+	Silent	SNP	T	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:175237393T>A	uc010iro.2	+	9	1343	c.1038T>A	c.(1036-1038)acT>acA	p.T346T	CEP44_uc003its.2_Non-coding_Transcript|CEP44_uc003itr.3_Silent_p.T346T	NM_001145314	NP_001138786	Q9C0F1	CEP44_HUMAN	Homo sapiens centrosomal protein 44kDa (CEP44), transcript variant 2, mRNA.	346						centrosome|midbody|spindle pole				endometrium(2)|large_intestine(4)|lung(5)|stomach(1)	12						CAGATTCAACTCCCAGAGCCT	0.378000														75			50		0	0	0.000781405	0	0
DNAJB3	414061	broad.mit.edu	37	2	234652230	234652230	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:234652230G>A	uc002vuz.3	-	0	432	c.333C>T	c.(331-333)tcC>tcT	p.S111S	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Intron|UGT1A1_uc002vuw.3_Intron|UGT1A1_uc010zna.1_Intron|UGT1A1_uc002vux.3_Intron|UGT1A1_uc010znb.1_Intron|UGT1A1_uc002vuy.3_Intron	NM_001001394	NP_001001394	Q8WWF6	DNJB3_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 3 (DNAJB3), mRNA.	111					protein folding		heat shock protein binding|unfolded protein binding										AGAGGTCAAAGGAGAATGGGT	0.602000														46			26		0	0	0.00127121	0	0
SCN1A	6323	broad.mit.edu	37	2	166901660	166901660	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:166901660C>T	uc002udo.4	-	11	1782	c.1555G>A	c.(1555-1557)Gaa>Aaa	p.E519K	SCN1A_uc010fpk.3_Missense_Mutation_p.E519K|SCN1A_uc021vsb.1_Missense_Mutation_p.E519K	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	519						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TTTTGGAATTCATCCTCATCT	0.438000														78			49		0	0	0.000781405	0	0
GRIN2B	2904	broad.mit.edu	37	12	14018747	14018747	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:14018747C>T	uc001rbt.2	-	1	575	c.396G>A	c.(394-396)atG>atA	p.M132I		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	132					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CTGCCATTATCATAGAGGAGC	0.502000														85			53		0	0	0.000781405	0	0
KDR	3791	broad.mit.edu	37	4	55956205	55956205	+	Missense_Mutation	SNP	G	A	A	rs148668147		TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:55956205G>A	uc003has.3	-	22	3412	c.3110C>T	c.(3109-3111)tCg>tTg	p.S1037L	KDR_uc003hat.1_Missense_Mutation_p.S1037L	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	1037	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	GTTCTTCTCCGATAAGAGGAT	0.423000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				42			23		0	0	0.000586117	0	0
CD3D	915	broad.mit.edu	37	11	118211228	118211228	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:118211228C>T	uc001pss.1	-	1	273	c.136G>A	c.(136-138)Gga>Aga	p.G46R	CD3D_uc001pst.1_Missense_Mutation_p.G46R|CD3D_uc021qrf.1_Intron	NM_000732	NP_000723	P04234	CD3D_HUMAN	Homo sapiens CD3d molecule, delta (CD3-TCR complex) (CD3D), transcript variant 1, mRNA.	46					T cell costimulation|T cell receptor signaling pathway|positive thymic T cell selection	cytoplasm|integral to membrane	protein heterodimerization activity			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	9	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		CCCACCGTTCCCTCTACCCAT	0.448000														33			15		0	0	0.000422831	0	0
PDGFRB	5159	broad.mit.edu	37	5	149509527	149509527	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:149509527G>A	uc003lro.3	-	9	1841	c.1372C>T	c.(1372-1374)Cca>Tca	p.P458S	PDGFRB_uc010jhd.3_Missense_Mutation_p.P297S	NM_002609	NP_002600	P09619	PGFRB_HUMAN	Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	458	Ig-like C2-type 5.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGCTCACGTGGACACCTGCCA	0.617000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""						OREG0016927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		37			20		0	0	0.00229938	0	0
TRPC4AP	26133	broad.mit.edu	37	20	33592285	33592285	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:33592285G>A	uc002xbk.3	-	16	2059	c.2025C>T	c.(2023-2025)atC>atT	p.I675I	TRPC4AP_uc002xbj.3_Non-coding_Transcript|TRPC4AP_uc010zuq.2_Silent_p.I266I|TRPC4AP_uc010zur.2_Silent_p.I636I|TRPC4AP_uc002xbl.3_Silent_p.I667I	NM_015638	NP_056453	Q8TEL6	TP4AP_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 associated protein (TRPC4AP), transcript variant 1, mRNA.	675					protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			GCACGTGGATGATGTTGATGA	0.592000														39			7		0	0	0.000442599	0	0
HMX3	340784	broad.mit.edu	37	10	124896586	124896587	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:124896586_124896587CC>TT	uc010quc.2	+	1	413_414	c.413_414CC>TT	c.(412-414)gcc>gTT	p.A138V		NM_001105574	NP_001099044	A6NHT5	HMX3_HUMAN	Homo sapiens H6 family homeobox 3 (HMX3), mRNA.	138					cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity			lung(4)	4		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141)		TCGGAGAAGGCCTTGCTGAGAG	0.673000														4			7		0	0	6.4e-05	0	0
CA4	762	broad.mit.edu	37	17	58234034	58234034	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:58234034G>A	uc002iym.4	+	2	320	c.226G>A	c.(226-228)Gat>Aat	p.D76N	CA4_uc010wou.2_Non-coding_Transcript	NM_000717	NP_000708	P22748	CAH4_HUMAN	Homo sapiens carbonic anhydrase IV (CA4), mRNA.	76					bicarbonate transport|one-carbon metabolic process	ER-Golgi intermediate compartment|anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane	carbonate dehydratase activity|protein binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(5)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	CTCTGGCTACGATAAGAAGCA	0.572000														42			18		0	0	0.00229938	0	0
CCIN	881	broad.mit.edu	37	9	36170567	36170567	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:36170567C>T	uc003zzb.4	+	0	1179	c.1068C>T	c.(1066-1068)acC>acT	p.T356T		NM_005893	NP_005884	Q13939	CALI_HUMAN	Homo sapiens calicin (CCIN), mRNA.	356					cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			ACTCCTGGACCAAGTTGCCTG	0.582000														48			23		0	0	0.000375601	0	0
IGF2BP3	10643	broad.mit.edu	37	7	23391197	23391198	+	Missense_Mutation	DNP	TC	GT	GT			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:23391197_23391198TC>GT	uc003swg.3	-	5	675_676	c.409_410GA>AC	c.(409-411)gac>ACc	p.D137T		NM_006547	NP_006538	O00425	IF2B3_HUMAN	Homo sapiens insulin-like growth factor 2 mRNA binding protein 3 (IGF2BP3), mRNA.	137	RRM 2.				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						ATTCAGTTTGTCTAGTGCTCTG	0.460000														38			14		0	0	6.4e-05	0	0
PVR	5817	broad.mit.edu	37	19	45150799	45150799	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:45150799C>T	uc002ozm.3	+	1	683	c.384C>T	c.(382-384)ttC>ttT	p.F128F	PVR_uc010ejs.3_Silent_p.F128F|PVR_uc010xxb.2_Silent_p.F128F|PVR_uc010xxc.2_Silent_p.F128F|PVR_uc002ozn.3_Silent_p.F73F	NM_006505	NP_006496	P15151	PVR_HUMAN	Homo sapiens poliovirus receptor (PVR), transcript variant 1, mRNA.	128	Ig-like V-type.				adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to T cell mediated cytotoxicity|susceptibility to natural killer cell mediated cytotoxicity	cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus	cell adhesion molecule binding|receptor activity			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		TCGTCACGTTCCCGCAGGGCA	0.607000														86			60		0	0	0.000781405	0	0
EIF2AK3	9451	broad.mit.edu	37	2	88895175	88895175	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:88895175C>A	uc002stc.4	-	2	747	c.445G>T	c.(445-447)Ggg>Tgg	p.G149W		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 3 (EIF2AK3), mRNA.	149					ER overload response|activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						ATCTTATTCCCAAATACCTAA	0.363000														244			10		0.00136819	0.00618404	0.00136819	1	0
DTWD2	285605	broad.mit.edu	37	5	118176690	118176690	+	Silent	SNP	T	G	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:118176690T>G	uc003ksa.3	-	5	853	c.819A>C	c.(817-819)ggA>ggC	p.G273G		NM_173666	NP_775937	Q8NBA8	DTWD2_HUMAN	Homo sapiens DTW domain containing 2 (DTWD2), mRNA.	273										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)	13		all_epithelial(76;0.0982)|Prostate(80;0.121)		OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939)		TAGGATATAATCCATTTTTCA	0.383000														23			20		0	0	0.00121646	0	0
UCHL3	7347	broad.mit.edu	37	13	76169099	76169099	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr13:76169099C>T	uc001vjq.3	+	6	553	c.523C>T	c.(523-525)Cat>Tat	p.H175Y		NM_006002	NP_005993	P15374	UCHL3_HUMAN	Homo sapiens ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase) (UCHL3), mRNA.	175					ubiquitin-dependent protein catabolic process	cytoplasm	cysteine-type peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity			kidney(1)|large_intestine(2)|lung(3)|skin(1)	7				GBM - Glioblastoma multiforme(99;0.0125)		TGCATTAGTTCATGTAGATGG	0.338000														174			99		0	0	0.000781405	0	0
USP9Y	8287	broad.mit.edu	37	Y	14848359	14848359	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrY:14848359C>T	uc004fst.1	+	9	1985	c.1040C>T	c.(1039-1041)tCc>tTc	p.S347F	USP9Y_uc010nwu.1_Non-coding_Transcript	NM_004654	NP_004645	O00507	USP9Y_HUMAN	Homo sapiens ubiquitin specific peptidase 9, Y-linked (USP9Y), mRNA.	347					BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TTGCAAATTTCCTCTTTTAAT	0.294000														1			16		0	0	0.000566183	0	0
SOGA2	23255	broad.mit.edu	37	18	8784328	8784328	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr18:8784328C>T	uc002knr.2	+	5	1360	c.1218C>T	c.(1216-1218)ccC>ccT	p.P406P	SOGA2_uc002knq.2_Silent_p.P406P|SOGA2_uc010dkw.1_Silent_p.P244P	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	Homo sapiens coiled-coil domain containing 165 (CCDC165), mRNA.	757																	TGCCCCAGCCCAAGCGGGAAG	0.672000														30			19		0	0	0.00188189	0	0
SLC14A1	6563	broad.mit.edu	37	18	43316460	43316460	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr18:43316460A>T	uc010dnk.3	+	6	900	c.678A>T	c.(676-678)aaA>aaT	p.K226N	SLC14A1_uc002lbi.4_Missense_Mutation_p.K38N|SLC14A1_uc010xcn.2_Missense_Mutation_p.K170N|SLC14A1_uc002lbf.4_Missense_Mutation_p.K170N|SLC14A1_uc002lbg.4_Intron|SLC14A1_uc010xco.2_Missense_Mutation_p.K65N|SLC14A1_uc002lbh.4_Missense_Mutation_p.K62N|SLC14A1_uc002lbj.4_Missense_Mutation_p.K226N|SLC14A1_uc002lbk.4_Missense_Mutation_p.K170N|SLC14A1_uc021ujg.1_Missense_Mutation_p.K170N	NM_001128588	NP_056949	Q13336	UT1_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 1 (Kidd blood group) (SLC14A1), transcript variant 1, mRNA.	170						integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						TGCTCAGCAAATGGGACCTCC	0.458000														59			50		0	0	0.000781405	0	0
OR6C2	341416	broad.mit.edu	37	12	55846409	55846409	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:55846409G>A	uc001sgz.1	+	0	412	c.412G>A	c.(412-414)Gtg>Atg	p.V138M		NM_054105	NP_473446	Q9NZP2	OR6C2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 2 (OR6C2), mRNA.	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						GAACAACAGGGTGTGTACCTT	0.468000														33			15		0	0	0.000308642	0	0
AP2M1	1173	broad.mit.edu	37	3	183899730	183899730	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:183899730C>T	uc021xig.1	+	7	901	c.858C>T	c.(856-858)ccC>ccT	p.P286P	AP2M1_uc003fmw.3_Silent_p.P284P|AP2M1_uc021xif.1_Silent_p.P102P|AP2M1_uc011bqy.2_Silent_p.P156P|AP2M1_uc011bqz.2_Silent_p.P102P	NM_004068	NP_004059	Q96CW1	AP2M1_HUMAN	Homo sapiens adaptor-related protein complex 2, mu 1 subunit (AP2M1), transcript variant 1, mRNA.	286	MHD.				axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane	lipid binding|protein binding|transporter activity			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCATCCTTCCCTTCCGGGTGA	0.537000														20			12		0	0	0.00185496	0	0
NBEAL2	23218	broad.mit.edu	37	3	47045731	47045731	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:47045731C>T	uc003cqp.3	+	36	6225	c.6046C>T	c.(6046-6048)Cag>Tag	p.Q2016*	NBEAL2_uc010hjm.2_Nonsense_Mutation_p.Q1393*|NBEAL2_uc010hjn.2_Nonsense_Mutation_p.Q412*	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.	2016							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		ATCTCCTAGCCAGACTCCCAG	0.607000														104			41		0	0	0.000781405	0	0
DDX10	1662	broad.mit.edu	37	11	108712144	108712144	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:108712144C>T	uc001pkm.3	+	14	2253	c.2188C>T	c.(2188-2190)Cag>Tag	p.Q730*	DDX10_uc001pkl.1_Nonsense_Mutation_p.Q730*	NM_004398	NP_004389	Q13206	DDX10_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 (DDX10), mRNA.	730							ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		GGAAAGACTTCAGGAAGAGGA	0.383000			T	NUP98	AML*									38			19		0	0	0.00188189	0	0
TARBP1	6894	broad.mit.edu	37	1	234565323	234565323	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:234565323G>A	uc001hwd.3	-	15	2710	c.2710C>T	c.(2710-2712)Cac>Tac	p.H904Y		NM_005646	NP_005637	Q13395	TARB1_HUMAN	Homo sapiens TAR (HIV-1) RNA binding protein 1 (TARBP1), mRNA.	904					RNA processing|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			ATAAGGGTGTGATATTTTTTC	0.433000														86			38		0	0	0.00195071	0	0
MPZ	4359	broad.mit.edu	37	1	161275677	161275677	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:161275677C>T	uc001gaf.4	-	5	803	c.736G>A	c.(736-738)Gat>Aat	p.D246N		NM_000530	NP_000521	P25189	MYP0_HUMAN	Homo sapiens myelin protein zero (MPZ), mRNA.	246					synaptic transmission	integral to plasma membrane	structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	10	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	BRCA - Breast invasive adenocarcinoma(70;0.00376)			TATTTCTTATCCTTGCGAGAC	0.597000														72			18		0	0	0.00229938	0	0
ATP2B4	493	broad.mit.edu	37	1	203678659	203678659	+	Silent	SNP	C	T	T	rs150320737		TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:203678659C>T	uc001gzw.3	+	10	2685	c.1788C>T	c.(1786-1788)atC>atT	p.I596I	ATP2B4_uc001gzv.3_Silent_p.I596I|ATP2B4_uc009xaq.3_Silent_p.I596I	NM_001684	NP_001675	P23634	AT2B4_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 4 (ATP2B4), transcript variant 2, mRNA.	596					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CCTCTGAGATCATCTTGCGCA	0.542000														31			34		0	0	0.00111076	0	0
EDEM3	80267	broad.mit.edu	37	1	184677385	184677385	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:184677385G>A	uc010pom.2	-	16	2200	c.1939C>T	c.(1939-1941)Cca>Tca	p.P647S	EDEM3_uc010pok.2_Missense_Mutation_p.P647S|EDEM3_uc010pol.2_Non-coding_Transcript	NM_025191	NP_079467	Q9BZQ6	EDEM3_HUMAN	Homo sapiens ER degradation enhancer, mannosidase alpha-like 3 (EDEM3), mRNA.	647					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						ACAGCTCGTGGAGGCAGCTGC	0.458000														23			12		0	0	0.000978159	0	0
C20orf26	26074	broad.mit.edu	37	20	20037439	20037439	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:20037439C>T	uc002wru.3	+	2	257	c.143_splice	c.e2+1	p.L48_splice	C20orf26_uc010gcw.2_Intron|C20orf26_uc010zse.2_Splice_Site_p.L48_splice|C20orf26_uc010zsf.1_Splice_Site_p.L48_splice|CRNKL1_uc002wrs.3_5'Flank|CRNKL1_uc002wrt.1_5'Flank	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA.	48										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CATCTATCTTCTGTAAGTAGA	0.388000														61			38		0	0	0.00128727	0	0
MYOM3	127294	broad.mit.edu	37	1	24383875	24383876	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:24383875_24383876GG>AA	uc001bin.4	-	36	4455_4456	c.4292_4293CC>TT	c.(4291-4293)ccc>cTT	p.P1431L	MYOM3_uc001bil.4_Missense_Mutation_p.P324L|MYOM3_uc001bim.4_Missense_Mutation_p.P1088L	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	1431										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TCAGCTCCTTGGGCTCGTCCCC	0.574000														22			20		0	0	6.4e-05	0	0
CCDC73	493860	broad.mit.edu	37	11	32635300	32635300	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:32635300C>T	uc001mtv.3	-	15	2608	c.2564G>A	c.(2563-2565)gGa>gAa	p.G855E		NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	Homo sapiens coiled-coil domain containing 73 (CCDC73), mRNA.	855										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					GAACATTTTTCCTGAAACAAT	0.348000														69			38		0	0	0.00128727	0	0
GRM8	2918	broad.mit.edu	37	7	126173045	126173045	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:126173045G>A	uc003vlr.2	-	7	2702	c.2391C>T	c.(2389-2391)ttC>ttT	p.F797F	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Silent_p.F797F|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	797					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	AGATGGGGATGAAAGCTAACC	0.393000										HNSCC(24;0.065)				22			15		0	0	0.000566183	0	0
MYO18B	84700	broad.mit.edu	37	22	26422964	26422964	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr22:26422964G>A	uc003abz.1	+	42	7274	c.7024G>A	c.(7024-7026)Gaa>Aaa	p.E2342K	MYO18B_uc003aca.1_Missense_Mutation_p.E2223K|MYO18B_uc010guy.1_Missense_Mutation_p.E2224K|MYO18B_uc010guz.1_Missense_Mutation_p.E2222K|MYO18B_uc011aka.1_Missense_Mutation_p.E1496K|MYO18B_uc011akb.1_Missense_Mutation_p.E1855K|MYO18B_uc010gva.1_Missense_Mutation_p.E325K|MYO18B_uc010gvb.1_Non-coding_Transcript	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2342						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCTACTCCCCGAAAAGTCGAA	0.562000														33			27		0	0	0.00106085	0	0
ZNF208	7757	broad.mit.edu	37	19	22155441	22155441	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:22155441G>A	uc021urr.1	-	3	2544	c.2395C>T	c.(2395-2397)Cat>Tat	p.H799Y	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)				TCATCAGTATGAATTCTCTTA	0.358000														18			11		0	0	0.00136819	0	0
DL492607	0	broad.mit.edu	37	11	113661217	113661217	+	RNA	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:113661217G>A	uc001pof.1	+	0		c.1265G>A								Homo sapiens cDNA FLJ36034 fis, clone TESTI2017107, highly similar to CYCLIC-AMP-DEPENDENT TRANSCRIPTION FACTOR ATF-4.																		GGGCTTCTCCGAATGGCTGGC	0.522000														18			11		0	0	0.000978159	0	0
CWC15	51503	broad.mit.edu	37	11	94705258	94705258	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:94705258G>A	uc001pfd.4	-	1	215	c.92C>T	c.(91-93)tCa>tTa	p.S31L	CWC15_uc009ywl.1_Missense_Mutation_p.S31L|KDM4D_uc001pfe.3_5'Flank	NM_016403	NP_057487	Q9P013	CWC15_HUMAN	Homo sapiens CWC15 spliceosome-associated protein homolog (S. cerevisiae) (CWC15), mRNA.	31					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome	RNA binding|protein binding						Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GTCTCTGCTTGAATACTGCTT	0.413000														105			72		0	0	0.000781405	0	0
PCDHB2	56133	broad.mit.edu	37	5	140476702	140476702	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:140476702C>T	uc003lil.3	+	0	2466	c.2328C>T	c.(2326-2328)ttC>ttT	p.F776F	PCDHB2_uc003lim.1_Silent_p.F437F	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	776					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCCCAACTTCGTTGCTCAGG	0.507000														49			35		0	0	0.000781405	0	0
TAS2R40	259286	broad.mit.edu	37	7	142919714	142919714	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:142919714G>A	uc011ksx.2	+	0	543	c.543G>A	c.(541-543)acG>acA	p.T181T		NM_176882	NP_795363	P59535	T2R40_HUMAN	Homo sapiens taste receptor, type 2, member 40 (TAS2R40), mRNA.	181					sensory perception of taste	integral to membrane	G-protein coupled receptor activity	p.T181T(2)		kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					CCAACTCCACGGAGAAGAAGT	0.458000														49			35		0	0	0.000953801	0	0
COL17A1	1308	broad.mit.edu	37	10	105797396	105797396	+	Missense_Mutation	SNP	C	T	T	rs147631156	byFrequency	TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:105797396C>T	uc001kxr.3	-	45	3375	c.3206G>A	c.(3205-3207)cGg>cAg	p.R1069Q		NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.	1069	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GGGCTTACTCCGTAAGTAGCT	0.602000														44			27		0	0	0.001512	0	0
PLAGL1	5325	broad.mit.edu	37	6	144269140	144269140	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:144269140G>A	uc003qjv.3	-	1	1400	c.134C>T	c.(133-135)tCc>tTc	p.S45F	PLAGL1_uc003qjx.3_Missense_Mutation_p.S45F|PLAGL1_uc003qjy.3_Missense_Mutation_p.S45F|PLAGL1_uc010khl.3_Missense_Mutation_p.S45F|PLAGL1_uc010khm.3_Missense_Mutation_p.S45F|PLAGL1_uc003qjz.3_Missense_Mutation_p.S45F|PLAGL1_uc003qka.3_Missense_Mutation_p.S45F|PLAGL1_uc003qkb.3_Intron|PLAGL1_uc003qkc.3_Missense_Mutation_p.S45F|PLAGL1_uc003qkd.3_Intron|PLAGL1_uc003qke.3_Missense_Mutation_p.S45F|PLAGL1_uc003qkf.3_Missense_Mutation_p.S45F|PLAGL1_uc003qkg.3_Intron|PLAGL1_uc003qkh.3_Missense_Mutation_p.S45F|PLAGL1_uc003qki.3_Intron|PLAGL1_uc003qkj.3_Missense_Mutation_p.S45F|PLAGL1_uc003qkk.3_Intron|PLAGL1_uc003qkl.3_Intron|PLAGL1_uc003qkm.3_Missense_Mutation_p.S45F|PLAGL1_uc010khn.3_Missense_Mutation_p.S45F|PLAGL1_uc003qkn.3_Intron|PLAGL1_uc003qko.3_Missense_Mutation_p.S45F|PLAGL1_uc003qkp.3_Intron|PLAGL1_uc003qjw.3_Intron	NM_002656	NP_002647	Q9UM63	PLAL1_HUMAN	Homo sapiens pleiomorphic adenoma gene-like 1 (PLAGL1), transcript variant 1, mRNA.	45					cell cycle arrest|induction of apoptosis|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2)	13				OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885)		TTTATATCTGGAAACAAAGGC	0.478000														51			115		0	0	0.000781405	0	0
GTF3C1	2975	broad.mit.edu	37	16	27499546	27499546	+	Splice_Site	SNP	A	G	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:27499546A>G	uc002dov.2	-	23	3740	c.3700_splice	c.e23+1	p.G1234_splice	GTF3C1_uc002dou.3_Splice_Site_p.G1234_splice	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	1234						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TCACCACATAACCTTTCTTCT	0.532000														75			39		0	0	0.00195071	0	0
TGM5	9333	broad.mit.edu	37	15	43552317	43552317	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:43552317G>A	uc001zrd.2	-	2	377	c.369C>T	c.(367-369)tcC>tcT	p.S123S	TGM5_uc001zre.2_Intron	NM_201631	NP_963925	O43548	TGM5_HUMAN	Homo sapiens transglutaminase 5 (TGM5), transcript variant 1, mRNA.	123					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.D122N(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	ACCCCTGGAAGGAGTCGATGT	0.622000														44			43		0	0	0.000781405	0	0
FCAR	2204	broad.mit.edu	37	19	55399441	55399441	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:55399441C>T	uc002qhr.1	+	3	626	c.429C>T	c.(427-429)tcC>tcT	p.S143S	FCAR_uc021vbp.1_Non-coding_Transcript|FCAR_uc002qhq.3_Silent_p.S143S|FCAR_uc002qhs.1_Intron|FCAR_uc002qht.1_Silent_p.S116S|FCAR_uc010esi.1_Intron|FCAR_uc002qhu.1_Intron|FCAR_uc002qhv.1_Silent_p.S143S|FCAR_uc002qhw.1_Silent_p.S131S|FCAR_uc002qhx.1_Intron|FCAR_uc002qhy.1_Silent_p.S131S|FCAR_uc002qhz.1_Silent_p.S131S|FCAR_uc002qia.1_Silent_p.S34S	NM_002000	NP_001991	P24071	FCAR_HUMAN	Homo sapiens Fc fragment of IgA, receptor for (FCAR), transcript variant 1, mRNA.	143	Ig-like C2-type 2.				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		AGAATATTTCCCTCACGTGCA	0.502000														34			15		0	0	0.000422831	0	0
AGAP11	119385	broad.mit.edu	37	10	88769041	88769041	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:88769041G>A	uc001kee.2	+	11	2236	c.1032G>A	c.(1030-1032)gtG>gtA	p.V344V	AGAP11_uc001kef.3_Intron	NM_133447	NP_597704	Q8TF27	AGA11_HUMAN	Homo sapiens ankyrin repeat and GTPase domain Arf GTPase activating protein 11 (AGAP11), mRNA.	344	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										CCCACTGCGTGGACTGTGAGA	0.542000														128			60		0	0	0.000781405	0	0
TRAPPC9	83696	broad.mit.edu	37	8	140922496	140922496	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr8:140922496G>A	uc003yvh.2	-	19	3168	c.3153C>T	c.(3151-3153)tcC>tcT	p.S1051S	TRAPPC9_uc003yvj.2_Silent_p.S953S|TRAPPC9_uc010mel.1_Silent_p.S374S|TRAPPC9_uc003yvi.1_Silent_p.S944S	NM_031466	NP_001153844	Q96Q05	TPPC9_HUMAN	Homo sapiens trafficking protein particle complex 9 (TRAPPC9), transcript variant 1, mRNA.	953					cell differentiation	Golgi apparatus|endoplasmic reticulum				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						TCTCCCCAGGGGACTCCGGGA	0.537000														34			20		0	0	0.00188189	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140348166	140348166	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:140348166C>T	uc003lii.3	+	0	2420	c.1815C>T	c.(1813-1815)acC>acT	p.T605T	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Silent_p.T605T	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	605	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.T605T(2)		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)			ACCTGGTCACCAAAGTCATAG	0.517000														40			18		0	0	0.00152264	0	0
CYP4A11	1579	broad.mit.edu	37	1	47402415	47402415	+	Missense_Mutation	SNP	C	T	T	rs148717576		TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:47402415C>T	uc001cqp.4	-	3	482	c.431G>A	c.(430-432)cGg>cAg	p.R144Q	CYP4A11_uc001cqq.2_Missense_Mutation_p.R144Q|CYP4A11_uc010omm.1_Non-coding_Transcript	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	144					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	GGTCAGCATCCGTCGATGCTG	0.527000														39			19		0	0	0.00229938	0	0
STARD10	10809	broad.mit.edu	37	11	72466782	72466782	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:72466782C>T	uc001osy.3	-	5	778	c.594G>A	c.(592-594)tgG>tgA	p.W198*	ARAP1_uc001osv.3_Intron|STARD10_uc001osz.4_Nonsense_Mutation_p.W198*|STARD10_uc001ota.3_Nonsense_Mutation_p.W152*|STARD10_uc001otb.3_Nonsense_Mutation_p.W198*	NM_006645	NP_006636	Q9Y365	PCTL_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 10 (STARD10), mRNA.	198	START.									endometrium(4)|large_intestine(1)|lung(2)|prostate(1)	8			BRCA - Breast invasive adenocarcinoma(5;7.08e-07)			TATTCACCACCCACTTGGGTA	0.582000														80			55		0	0	0.000781405	0	0
PLA1A	51365	broad.mit.edu	37	3	119336910	119336910	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:119336910T>C	uc003ecu.3	+	6	865	c.799T>C	c.(799-801)Tac>Cac	p.Y267H	PLA1A_uc003ecv.3_Missense_Mutation_p.Y251H|PLA1A_uc011bjc.2_Missense_Mutation_p.Y94H|PLA1A_uc003ecw.3_Non-coding_Transcript	NM_015900	NP_001193890	Q53H76	PLA1A_HUMAN	Homo sapiens phospholipase A1 member A (PLA1A), transcript variant 1, mRNA.	267					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TGTGCACCTCTACATCAGCGC	0.473000														121			69		0	0	0.000781405	0	0
RTN4RL1	146760	broad.mit.edu	37	17	1840680	1840680	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:1840680C>T	uc002ftp.3	-	1	455	c.436G>A	c.(436-438)Ggc>Agc	p.G146S		NM_178568	NP_848663	Q86UN2	R4RL1_HUMAN	Homo sapiens reticulon 4 receptor-like 1 (RTN4RL1), mRNA.	146					axon regeneration	anchored to plasma membrane	receptor activity	p.F145F(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						TGCAGGCCGCCAAAGACGCCG	0.627000														15			15		0	0	0.000422831	0	0
MMEL1	79258	broad.mit.edu	37	1	2524135	2524136	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:2524135_2524136CC>TT	uc001ajy.2	-	20	2239_2240	c.2025_2026GG>AA	c.(2023-2028)ggggaa>ggAAaa	p.E676K	MMEL1_uc009vlg.1_Non-coding_Transcript	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN	Homo sapiens membrane metallo-endopeptidase-like 1 (MMEL1), mRNA.	676					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		GCAATGTTTTCCCCAAGGGTGT	0.683000														17			13		0	0	6.4e-05	0	0
HKDC1	80201	broad.mit.edu	37	10	70998811	70998811	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:70998811C>T	uc001jpf.4	+	4	642	c.509C>T	c.(508-510)tCg>tTg	p.S170L	HKDC1_uc010qje.2_Missense_Mutation_p.S33L	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	Homo sapiens hexokinase domain containing 1 (HKDC1), mRNA.	170	Glucose-binding (Potential).				glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GTCCTACTTTCGTGGACAAAA	0.502000														35			15		0	0	0.000422831	0	0
AKR7A2	8574	broad.mit.edu	37	1	19630880	19630880	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:19630880C>T	uc001bbw.3	-	7	941	c.919_splice	c.e7-1	p.G307_splice		NM_003689	NP_003680	O43488	ARK72_HUMAN	Homo sapiens aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase) (AKR7A2), mRNA.	307					carbohydrate metabolic process|cellular aldehyde metabolic process	Golgi apparatus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCGTGGGCACCCTGCAAGGGA	0.642000														51			28		0	0	0.001512	0	0
GCM1	8521	broad.mit.edu	37	6	52993656	52993656	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:52993656C>T	uc003pbp.3	-	5	868	c.659G>A	c.(658-660)gGa>gAa	p.G220E		NM_003643	NP_003634	Q9NP62	GCM1_HUMAN	Homo sapiens glial cells missing homolog 1 (Drosophila) (GCM1), mRNA.	220						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)					TATTAAATGTCCACTGTAACT	0.443000														49			38		0	0	0.00148497	0	0
ANGPT4	51378	broad.mit.edu	37	20	896675	896675	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:896675G>A	uc002wei.3	-	0	286	c.183C>T	c.(181-183)gtC>gtT	p.V61V	ANGPT4_uc010zpn.2_Silent_p.V55V	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN	Homo sapiens angiopoietin 4 (ANGPT4), mRNA.	61					anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						AGTCCCTGGAGACCTCAGGCC	0.622000														59			28		0	0	0.00209593	0	0
THSD7B	80731	broad.mit.edu	37	2	138373853	138373853	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:138373853G>A	uc002tva.1	+	16	3442	c.3442G>A	c.(3442-3444)Gaa>Aaa	p.E1148K	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CCTCCTGAATGAAAATTGCTT	0.453000														62			40		0	0	0.00222228	0	0
KRT6A	3853	broad.mit.edu	37	12	52882250	52882250	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:52882250C>A	uc001sam.3	-	6	1495	c.1286G>T	c.(1285-1287)gGg>gTg	p.G429V		NM_005554	NP_005545	P02538	K2C6A_HUMAN	Homo sapiens keratin 6A (KRT6A), mRNA.	429	Coil 2.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton	p.G429W(1)|p.G429R(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		ATCCTCCAGCCCTTCCAGCTT	0.602000														47			22		3.7963e-18	1.75191e-17	0.00047179	1	0
DNAH8	1769	broad.mit.edu	37	6	38843419	38843419	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:38843419C>T	uc021yzh.1	+	52	7782	c.7673C>T	c.(7672-7674)tCc>tTc	p.S2558F	DNAH8_uc003ooe.2_Missense_Mutation_p.S2341F	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.									p.P2557H(1)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GGCGGTGTTTCCTGTGTCGAA	0.338000														37			20		0	0	0.000375601	0	0
C4BPA	722	broad.mit.edu	37	1	207287488	207287488	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:207287488G>A	uc001hfo.3	+	2	380	c.186G>A	c.(184-186)atG>atA	p.M62I		NM_000715	NP_000706	P04003	C4BPA_HUMAN	Homo sapiens complement component 4 binding protein, alpha (C4BPA), mRNA.	62	Sushi 1.				complement activation, classical pathway|innate immune response	extracellular region	protein binding	p.P61L(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						CTGCCCCGATGGATATTACGT	0.473000														86			32		0	0	0.00058488	0	0
STAB2	55576	broad.mit.edu	37	12	104149468	104149468	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:104149468C>T	uc001tjw.3	+	62	7145	c.6959C>T	c.(6958-6960)tCc>tTc	p.S2320F	STAB2_uc009zug.3_Intron	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	2320	FAS1 7.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GTCCTGATGTCCTTCCCCTCA	0.562000														51			40		0	0	0.000781405	0	0
C14orf39	317761	broad.mit.edu	37	14	60932705	60932705	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:60932705C>T	uc001xez.4	-	10	1074	c.964G>A	c.(964-966)Gat>Aat	p.D322N	C14orf39_uc010apo.3_Missense_Mutation_p.D33N	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN	Homo sapiens chromosome 14 open reading frame 39 (C14orf39), mRNA.	322										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		ACCTGTGTATCATTTTCTTTT	0.313000														10			9		0	0	0.00136819	0	0
PKHD1	5314	broad.mit.edu	37	6	51910917	51910917	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:51910917G>A	uc003pah.1	-	23	2753	c.2477C>T	c.(2476-2478)tCc>tTc	p.S826F	PKHD1_uc003pai.3_Missense_Mutation_p.S826F	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	826					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GAGGTACCTGGATGTGAAGTC	0.458000														34			26		0	0	0.00127121	0	0
GLYATL1	92292	broad.mit.edu	37	11	58722804	58722804	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:58722804C>T	uc001nnh.2	+	5	612	c.562C>T	c.(562-564)Cac>Tac	p.H188Y	GLYATL1_uc001nnf.3_Missense_Mutation_p.H157Y|LOC283194_uc001nng.1_Intron|GLYATL1_uc001nni.2_Missense_Mutation_p.H157Y|GLYATL1_uc001nnj.2_Missense_Mutation_p.H157Y	NM_080661	NP_542392	Q969I3	GLYL1_HUMAN	Homo sapiens glycine-N-acyltransferase-like 1 (GLYATL1), transcript variant 1, mRNA.	157						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	TGAGACAGGCCACCCAGATGA	0.398000														32			11		0	0	0.000978159	0	0
PTPRN	5798	broad.mit.edu	37	2	220168482	220168482	+	Missense_Mutation	SNP	G	A	A	rs147728110		TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:220168482G>A	uc002vkz.3	-	3	593	c.352C>T	c.(352-354)Ccc>Tcc	p.P118S	PTPRN_uc010zlc.2_Missense_Mutation_p.P28S|PTPRN_uc002vla.3_Missense_Mutation_p.P118S	NM_002846	NP_001186693	Q16849	PTPRN_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N (PTPRN), transcript variant 1, mRNA.	118					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GGCTCTGGGGGGCGAAGCCTG	0.542000														34			21		0	0	0.000586117	0	0
SPIC	121599	broad.mit.edu	37	12	101880381	101880381	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:101880381C>T	uc001tid.3	+	5	738	c.579C>T	c.(577-579)ttC>ttT	p.F193F	SPIC_uc010svp.2_Silent_p.F193F|SPIC_uc009zua.3_Silent_p.F68F|SPIC_uc021rcq.1_Silent_p.F68F	NM_152323	NP_689536	Q8N5J4	SPIC_HUMAN	Homo sapiens Spi-C transcription factor (Spi-1/PU.1 related) (SPIC), mRNA.	193						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						CTTACCAGTTCAGTGAGGCCA	0.438000														77			38		0	0	0.00148497	0	0
VAV1	7409	broad.mit.edu	37	19	6825388	6825388	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:6825388C>T	uc002mfu.1	+	7	895	c.798C>T	c.(796-798)ctC>ctT	p.L266L	VAV1_uc010xjh.1_Silent_p.L234L|VAV1_uc010dva.1_Silent_p.L266L|VAV1_uc002mfv.1_Silent_p.L211L	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	266	DH.				T cell costimulation|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CAGCCAATCTCTACCAGGTCT	0.567000														19			14		0	0	0.000566183	0	0
POGZ	23126	broad.mit.edu	37	1	151378521	151378521	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:151378521C>A	uc001eyd.2	-	18	3305	c.2990G>T	c.(2989-2991)cGa>cTa	p.R997L	POGZ_uc021oyq.1_Missense_Mutation_p.R944L|POGZ_uc010pdb.2_Missense_Mutation_p.R988L|POGZ_uc010pdc.2_Missense_Mutation_p.R935L|POGZ_uc009wmv.2_Missense_Mutation_p.R902L|POGZ_uc001eyf.2_Missense_Mutation_p.R953L|POGZ_uc010pdd.2_Missense_Mutation_p.R488L	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	Homo sapiens pogo transposable element with ZNF domain (POGZ), transcript variant 1, mRNA.	997					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CTGGGGATTTCGGAAGTGTTC	0.507000														45			21		3.51602e-12	1.61671e-11	0.00121646	1	0
ABCC8	6833	broad.mit.edu	37	11	17430031	17430031	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:17430031C>T	uc001mnc.3	-	22	2854	c.2728G>A	c.(2728-2730)Gag>Aag	p.E910K		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	910	ABC transporter 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	p.E910*(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	AGGGTACCCTCCCTCTGGATG	0.547000														142			116		0	0	0.000781405	0	0
LOC642846	642846	broad.mit.edu	37	12	9458891	9458891	+	RNA	SNP	A	G	G	rs140731402	by1000genomes	TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:9458891A>G	uc001qvp.2	+	7		c.600A>G			LOC642846_uc010sgp.1_Non-coding_Transcript					Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11-like (LOC642846), non-coding RNA.									p.L565L(1)									CTTCCCCACTAATGCACATCG	0.612000														11			4		0	0	0.000602214	0	0
USP44	84101	broad.mit.edu	37	12	95927372	95927372	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:95927372G>A	uc001teg.3	-	1	805	c.661C>T	c.(661-663)Cag>Tag	p.Q221*	USP44_uc001teh.3_Nonsense_Mutation_p.Q221*|USP44_uc009zte.3_Nonsense_Mutation_p.Q218*	NM_001042403	NP_115523	Q9H0E7	UBP44_HUMAN	Homo sapiens ubiquitin specific peptidase 44 (USP44), transcript variant 2, mRNA.	221					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						ATGGTCGACTGAGCGAGCCCT	0.403000														41			32		0	0	0.001512	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140176162	140176163	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:140176162_140176163GG>AA	uc003lhd.2	+	0	1719_1720	c.1613_1614GG>AA	c.(1612-1614)cgg>cAA	p.R538Q	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Missense_Mutation_p.R538Q|PCDHAC2_uc011czy.2_Missense_Mutation_p.R538Q	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	552	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAGCGCGCGGGATGCGGGCG	0.673000														51			37		0	0	6.4e-05	0	0
PDE5A	8654	broad.mit.edu	37	4	120419758	120419758	+	Nonstop_Mutation	SNP	A	G	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:120419758A>G	uc003idh.3	-	20	2781	c.2626T>C	c.(2626-2628)Tga>Cga	p.*876R	PDE5A_uc003idf.3_Nonstop_Mutation_p.*834R|PDE5A_uc003idg.3_Nonstop_Mutation_p.*824R|LOC645513_uc021xrg.1_Intron	NM_001083	NP_246273	O76074	PDE5A_HUMAN	Homo sapiens phosphodiesterase 5A, cGMP-specific (PDE5A), transcript variant 1, mRNA.	0					platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	TAGGCCACTCAGTTCCGCTTG	0.473000														18			9		0	0	0.000673444	0	0
HSP90AB3P	3327	broad.mit.edu	37	4	88813033	88813033	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:88813033G>A	uc010iko.1	+	0	39	c.39G>A	c.(37-39)gaG>gaA	p.E13E						Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 3, pseudogene (HSP90AB3P), non-coding RNA.																		AGGAGGTGGAGACTTTTGCCT	0.458000														27			12		0	0	0.000219431	0	0
LRP8	7804	broad.mit.edu	37	1	53730059	53730059	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:53730059C>T	uc001cvi.2	-	9	1674	c.1437G>A	c.(1435-1437)atG>atA	p.M479I	LRP8_uc001cvh.2_Missense_Mutation_p.M32I|LRP8_uc001cvj.2_Missense_Mutation_p.M479I|LRP8_uc001cvk.2_Missense_Mutation_p.M309I|LRP8_uc001cvl.2_Missense_Mutation_p.M350I|LRP8_uc001cvm.1_Missense_Mutation_p.M64I	NM_004631	NP_004622	Q14114	LRP8_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 8, apolipoprotein e receptor (LRP8), transcript variant 1, mRNA.	479					cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						TGGCCTTGTCCATGTAGGCGC	0.562000														6			5		0	0	0.00116845	0	0
TMPRSS4	56649	broad.mit.edu	37	11	117965569	117965569	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:117965569C>T	uc021qrd.1	+	2	334	c.43_splice	c.e2+1	p.D15_splice	TMPRSS4_uc009yzu.3_Splice_Site|TMPRSS4_uc021qre.1_Splice_Site_p.D15_splice|TMPRSS4_uc010rxo.2_Splice_Site_p.D13_splice|TMPRSS4_uc010rxs.2_Splice_Site_p.V13_splice|TMPRSS4_uc010rxq.2_Splice_Site|TMPRSS4_uc010rxr.2_5'UTR|TMPRSS4_uc010rxt.2_Splice_Site	NM_019894	NP_063947	Q9NRS4	TMPS4_HUMAN	Homo sapiens transmembrane protease, serine 4 (TMPRSS4), transcript variant 1, mRNA.	15					proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		TGAACAGCCTCGGTAAGTTCA	0.542000														23			5		0	0	0.000602214	0	0
DLGAP4	22839	broad.mit.edu	37	20	35060740	35060741	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:35060740_35060741CC>TT	uc002xff.3	+	2	1055_1056	c.620_621CC>TT	c.(619-621)tcc>tTT	p.S207F	DLGAP4_uc010zvp.2_Missense_Mutation_p.S207F	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 4 (DLGAP4), transcript variant 1, mRNA.	207					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				TGGTGGAGCTCCGATGACAACT	0.678000														26			47		0	0	6.4e-05	0	0
ZC3H12A	80149	broad.mit.edu	37	1	37947358	37947358	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:37947358G>C	uc001cbb.4	+	3	890	c.740G>C	c.(739-741)cGt>cCt	p.R247P	ZC3H12A_uc001cbc.1_5'UTR	NM_025079	NP_079355	Q5D1E8	ZC12A_HUMAN	Homo sapiens zinc finger CCCH-type containing 12A (ZC3H12A), mRNA.	247					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding	p.R247C(1)		NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GACACATACCGTGACCTCCAA	0.582000														35			26		0	0	0.000720815	0	0
BRP44	25874	broad.mit.edu	37	1	167889261	167889261	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:167889261G>A	uc001ges.3	-	3	663	c.303C>T	c.(301-303)ttC>ttT	p.F101F	BRP44_uc001geu.3_Silent_p.F101F|BRP44_uc001get.3_Silent_p.F101F	NM_015415	NP_056230	O95563	BR44_HUMAN	Homo sapiens brain protein 44 (BRP44), transcript variant 2, mRNA.	101						mitochondrion		p.F101L(2)		breast(1)|kidney(1)|large_intestine(2)	4	all_hematologic(923;0.215)			KIRC - Kidney renal clear cell carcinoma(1967;0.247)		CCCCCACAAAGAAATTAACAG	0.353000														148			61		0	0	0.000781405	0	0
NYAP2	57624	broad.mit.edu	37	2	226446850	226446850	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:226446850G>A	uc002voe.2	+	3	892	c.717G>A	c.(715-717)gaG>gaA	p.E239E	NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_Silent_p.E9E	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	239																	GAGACCCCGAGGAAGAGGAGC	0.592000														77			45		0	0	0.000781405	0	0
CRB1	23418	broad.mit.edu	37	1	197404165	197404165	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:197404165G>A	uc001gtz.3	+	8	3381	c.3172G>A	c.(3172-3174)Gaa>Aaa	p.E1058K	CRB1_uc010poz.2_Missense_Mutation_p.E1034K|CRB1_uc009wza.3_Missense_Mutation_p.E946K|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Intron|CRB1_uc010ppd.2_Missense_Mutation_p.E539K|CRB1_uc001gub.1_Missense_Mutation_p.E707K	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	1058	Laminin G-like 3.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.E1058K(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AGTGGACAACGAAACACCTTT	0.443000														42			13		0	0	0.000422831	0	0
KCNK17	89822	broad.mit.edu	37	6	39271779	39271779	+	Silent	SNP	G	A	A	rs140940240	byFrequency	TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:39271779G>A	uc003ooo.3	-	3	783	c.642C>T	c.(640-642)ttC>ttT	p.F214F	KCNK17_uc003oop.3_Silent_p.F214F	NM_031460	NP_113648	Q96T54	KCNKH_HUMAN	Homo sapiens potassium channel, subfamily K, member 17 (KCNK17), transcript variant 1, mRNA.	214						integral to membrane	potassium channel activity|voltage-gated ion channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)	14						TGATGAAGGCGAAGTAGAAGC	0.632000														48			39		0	0	0.00170553	0	0
DOCK2	1794	broad.mit.edu	37	5	169186717	169186717	+	Silent	SNP	T	C	C			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:169186717T>C	uc003maf.3	+	23	2465	c.2385T>C	c.(2383-2385)gcT>gcC	p.A795A	DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Silent_p.A287A	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	795					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)			AGGTGGCGGCTTTGAAATACA	0.453000														38			28		0	0	0.00178596	0	0
EP400	57634	broad.mit.edu	37	12	132502894	132502894	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:132502894C>T	uc001ujn.3	+	20	4402	c.4250C>T	c.(4249-4251)cCa>cTa	p.P1417L	EP400_uc021rgq.1_Missense_Mutation_p.P1416L|EP400_uc001ujm.3_Missense_Mutation_p.P1417L	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	1453					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GCAGCCCGACCAGCAGCAGCA	0.592000														38			15		0	0	0.000566183	0	0
MYCBP2	23077	broad.mit.edu	37	13	77671818	77671818	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr13:77671818G>A	uc021rks.1	-	55	9738	c.9471C>T	c.(9469-9471)ccC>ccT	p.P3157P	MYCBP2_uc010aev.3_Silent_p.P2523P|MYCBP2_uc001vkg.1_Silent_p.P642P|MYCBP2_uc010aew.3_Silent_p.P505P	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	3119	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GTAAAGTTAAGGGAAGAGGAG	0.408000														10			8		0	0	0.000673444	0	0
FGFR4	2264	broad.mit.edu	37	5	176522441	176522441	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:176522441G>A	uc003mfl.3	+	12	1797	c.1630_splice	c.e12+1	p.G544_splice	FGFR4_uc003mfm.3_Splice_Site_p.G544_splice|FGFR4_uc011dfu.2_Splice_Site_p.G476_splice|FGFR4_uc003mfo.3_Splice_Site_p.G504_splice	NM_002011	NP_998812	P22455	FGFR4_HUMAN	Homo sapiens fibroblast growth factor receptor 4 (FGFR4), transcript variant 1, mRNA.	544	Protein kinase.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	CACCCAGGAAGGTGGGGCCGA	0.637000										TSP Lung(9;0.080)				30			22		0	0	0.00047179	0	0
ANK2	287	broad.mit.edu	37	4	114277126	114277126	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:114277126C>T	uc003ibe.4	+	37	7452	c.7352C>T	c.(7351-7353)aCc>aTc	p.T2451I	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.T2466I	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	2418					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCACACAAAACCCCTGATTCT	0.502000														22			18		0	0	0.00074312	0	0
TRMU	55687	broad.mit.edu	37	22	46752825	46752826	+	Missense_Mutation	DNP	CC	TG	TG	rs142346622		TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr22:46752825_46752826CC>TG	uc003bhp.3	+	10	1552_1553	c.1188_1189CC>TG	c.(1186-1191)ggccag>ggTGag	p.Q397E	TRMU_uc003bhq.3_Missense_Mutation_p.Q179E|TRMU_uc003bhs.3_Nonsense_Mutation_p.P369*|TRMU_uc003bhr.3_Missense_Mutation_p.Q283E|TRMU_uc003bht.3_Missense_Mutation_p.Q250E|TRMU_uc003bhu.3_Missense_Mutation_p.Q179E|TRMU_uc003bhv.3_Nonsense_Mutation_p.P222*	NM_018006	NP_060476	O75648	MTU1_HUMAN	Homo sapiens tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase (TRMU), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	397						mitochondrion	ATP binding|sulfurtransferase activity|tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase activity|tRNA binding			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)		TCCAGAAGGGCCAGCGCAGAGC	0.614000														20			21		0	0	6.4e-05	0	0
CLEC14A	161198	broad.mit.edu	37	14	38724757	38724757	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:38724757C>T	uc001wum.1	-	0	818	c.471G>A	c.(469-471)tgG>tgA	p.W157*		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA.	157	C-type lectin.					integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		GCATCTCCTTCCAGCCTGCGG	0.672000														22			23		0	0	0.00127121	0	0
RAB3GAP2	25782	broad.mit.edu	37	1	220379279	220379279	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:220379279G>A	uc010puk.1	-	7	846	c.682C>T	c.(682-684)Ctt>Ttt	p.L228F	RAB3GAP2_uc021pjf.1_Missense_Mutation_p.L228F|RAB3GAP2_uc001hmf.2_Non-coding_Transcript|RAB3GAP2_uc001hmg.2_5'UTR	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN	Homo sapiens RAB3 GTPase activating protein subunit 2 (non-catalytic) (RAB3GAP2), mRNA.	228					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		CAAGCACGAAGAGATTGAAAA	0.303000														36			14		0	0	0.00121646	0	0
UBR1	197131	broad.mit.edu	37	15	43237663	43237664	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:43237663_43237664CC>AT	uc001zqq.3	-	46	5179_5180	c.5113_5114GG>AT	c.(5113-5115)ggc>ATc	p.G1705I		NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 1 (UBR1), mRNA.	1705					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		AAGGGGGTTGCCCCTCCTTTAG	0.406000														26			14		0	0	6.4e-05	0	0
GALNT8	26290	broad.mit.edu	37	12	4855410	4855410	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:4855410G>A	uc001qne.1	+	5	1251	c.1159G>A	c.(1159-1161)Gag>Aag	p.E387K		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) (GALNT8), mRNA.	387	Catalytic subdomain B.					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						AGAGAACGTGGAGCTTAGCCT	0.498000														27			27		0	0	0.0024448	0	0
WDR5	11091	broad.mit.edu	37	9	137007825	137007825	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:137007825C>T	uc004cey.3	+	6	683	c.512C>T	c.(511-513)tCg>tTg	p.S171L	WDR5_uc004cez.3_Missense_Mutation_p.S171L	NM_017588	NP_438172	P61964	WDR5_HUMAN	Homo sapiens WD repeat domain 5 (WDR5), transcript variant 1, mRNA.	171					histone H3 acetylation|histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|MLL1 complex|Set1C/COMPASS complex	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123)		Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154)		CCAGCTCACTCGGATCCAGTC	0.527000														60			46		0	0	0.000781405	0	0
AARS2	57505	broad.mit.edu	37	6	44274084	44274084	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:44274084G>A	uc010jza.1	-	8	1236	c.1233C>T	c.(1231-1233)tcC>tcT	p.S411S	TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	Homo sapiens alanyl-tRNA synthetase 2, mitochondrial (putative) (AARS2), nuclear gene encoding mitochondrial protein, mRNA.	411					alanyl-tRNA aminoacylation	mitochondrion	ATP binding|alanine-tRNA ligase activity|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	CCCGCTCCAGGGAGGCCAGGA	0.597000														36			27		0	0	0.00127121	0	0
TP53RK	112858	broad.mit.edu	37	20	45315533	45315533	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:45315533G>A	uc002xsk.3	-	1	844	c.621C>T	c.(619-621)ttC>ttT	p.F207F	SLC13A3_uc002xsg.2_5'Flank|SLC13A3_uc010gho.2_5'Flank|TP53RK_uc002xsj.3_3'UTR	NM_033550	NP_291028	Q96S44	PRPK_HUMAN	Homo sapiens TP53 regulating kinase (TP53RK), mRNA.	207	Protein kinase.				lipopolysaccharide biosynthetic process	membrane|nucleus	ATP binding|p53 binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			kidney(1)|large_intestine(1)|lung(4)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				GGGTACTGAGGAAGGCCTTCT	0.468000														167			55		0	0	0.000781405	0	0
CLDN11	5010	broad.mit.edu	37	3	170150514	170150514	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:170150514C>T	uc003fgx.3	+	2	796	c.594C>T	c.(592-594)tcC>tcT	p.S198S	CLDN11_uc011bpt.1_Intron|CLDN11_uc003fgy.3_Silent_p.S114S	NM_005602	NP_001171985	O75508	CLD11_HUMAN	Homo sapiens claudin 11 (CLDN11), transcript variant 1, mRNA.	198				RFYYTAGSSSPTHAKSAHV -> VSTTLRALAPRLMRRVPT YKRAARLPTEVL (in Ref. 1; AAC25187).	calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|liver(2)|lung(3)|ovary(2)	12	all_cancers(22;5.62e-23)|all_epithelial(15;7.54e-28)|all_lung(20;2.51e-17)|Lung NSC(18;1.02e-16)|Ovarian(172;0.000567)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			GCTCTAGCTCCCCGACTCATG	0.612000														43			27		0	0	0.00127121	0	0
B3GNT7	93010	broad.mit.edu	37	2	232263129	232263129	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:232263129C>T	uc002vrs.3	+	1	879	c.699C>T	c.(697-699)gtC>gtT	p.V233V		NM_145236	NP_660279	Q8NFL0	B3GN7_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 (B3GNT7), mRNA.	233			V -> I (in dbSNP:rs2290130).		protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		GCCCCCACGTCCCCTTCATTT	0.562000														78			42		0	0	0.000781405	0	0
ARHGAP5	394	broad.mit.edu	37	14	32560526	32560526	+	Silent	SNP	A	G	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:32560526A>G	uc001wrl.3	+	1	890	c.651A>G	c.(649-651)tcA>tcG	p.S217S	ARHGAP5_uc001wrm.3_Silent_p.S217S|ARHGAP5_uc001wrn.3_Silent_p.S217S|ARHGAP5_uc001wro.3_Intron|ARHGAP5_uc001wrp.3_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Homo sapiens Rho GTPase activating protein 5 (ARHGAP5), transcript variant 2, mRNA.	217					Rho protein signal transduction|cell adhesion	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		CATTTGCTTCAAATAAAAAGA	0.333000														69			39		0	0	0.00170553	0	0
SLC7A14	57709	broad.mit.edu	37	3	170198506	170198506	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:170198506G>A	uc003fgz.2	-	6	1881	c.1565C>T	c.(1564-1566)gCt>gTt	p.A522V	CLDN11_uc011bpt.1_Intron|CLDN11_uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	Homo sapiens solute carrier family 7 (orphan transporter), member 14 (SLC7A14), mRNA.	522						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			GGATTCATCAGCTTCTATGCC	0.458000														115			66		0	0	0.000781405	0	0
OTOGL	283310	broad.mit.edu	37	12	80765831	80765831	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:80765831C>T	uc001szd.3	+	55	6747	c.6741C>T	c.(6739-6741)ggC>ggT	p.G2247G	OTOGL_uc021rba.1_Silent_p.G266G|OTOGL_uc009zsg.2_Silent_p.G127G	NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						ATAATGAAGGCTGTTGCAAGA	0.313000														18			8		0	0	0.000978159	0	0
CLASP2	23122	broad.mit.edu	37	3	33614738	33614738	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:33614738C>A	uc021wvc.1	-	25	2801	c.2590G>T	c.(2590-2592)Ggt>Tgt	p.G864C	CLASP2_uc003cfs.3_Missense_Mutation_p.G63C|CLASP2_uc021wva.1_5'UTR|CLASP2_uc021wvb.1_Missense_Mutation_p.G643C|CLASP2_uc011axt.1_Missense_Mutation_p.G456C	NM_015097	NP_055912	B2RTR1	B2RTR1_HUMAN	Homo sapiens cytoplasmic linker associated protein 2 (CLASP2), transcript variant 1, mRNA.	864								p.G855C(1)|p.Q863H(1)|p.T864T(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						GGAATACTACCATTTCGAGAA	0.438000														208			11		0.000978159	0.00443687	0.000978159	1	0
ASMTL	8623	broad.mit.edu	37	X	1540610	1540611	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:1540610_1540611GG>AA	uc004cpx.2	-	8	1322_1323	c.1185_1186CC>TT	c.(1183-1188)atccga>atTTga	p.R396*	CRLF2_uc022brt.1_Intron|ASMTL_uc004cpy.2_Nonsense_Mutation_p.R380*|ASMTL_uc011mhe.2_Nonsense_Mutation_p.R320*|ASMTL_uc011mhf.2_Nonsense_Mutation_p.R338*	NM_004192	NP_001166944	O95671	ASML_HUMAN	Homo sapiens acetylserotonin O-methyltransferase-like (ASMTL), transcript variant 1, mRNA.	396	ASMT-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GTTCCCTCTCGGATGGCAAACT	0.540000														115			68		0	0	6.4e-05	0	0
LIN9	286826	broad.mit.edu	37	1	226421046	226421046	+	Splice_Site	SNP	T	C	C			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:226421046T>C	uc001hqa.2	-	13	1783	c.1473_splice	c.e13+1	p.K491_splice	LIN9_uc001hqb.2_Splice_Site_p.K456_splice|LIN9_uc001hqc.3_Splice_Site_p.K423_splice|LIN9_uc009xel.1_Splice_Site_p.K456_splice	NM_173083	NP_775106	Q5TKA1	LIN9_HUMAN	Homo sapiens lin-9 homolog (C. elegans) (LIN9), mRNA.	475					DNA replication|cell cycle	nucleoplasm				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		AAGATTTACCTTAATTTGTAA	0.323000														82			89		0	0	0.000781405	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21054336	21054336	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:21054336G>A	uc010sil.2	+	12	1865	c.1800G>A	c.(1798-1800)atG>atA	p.M600I	SLCO1B3_uc001rek.3_Missense_Mutation_p.M600I|SLCO1B3_uc001rel.3_Missense_Mutation_p.M600I|SLCO1B3_uc010sim.2_Intron			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	600					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					AAACATGTATGAAGTGGTCCA	0.358000														80			52		0	0	0.000781405	0	0
FRAS1	80144	broad.mit.edu	37	4	79396646	79396646	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:79396646G>A	uc003hlb.2	+	53	8177	c.7737G>A	c.(7735-7737)ggG>ggA	p.G2579G		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	2578	Calx-beta 1.				cell communication	integral to membrane|plasma membrane	metal ion binding	p.R2578K(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AGAGGACTGGGAACCTGAACC	0.547000														40			22		0	0	0.00152264	0	0
ATG4D	84971	broad.mit.edu	37	19	10659628	10659628	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:10659628C>T	uc002mov.3	+	5	1004	c.884C>T	c.(883-885)gCc>gTc	p.A295V	ATG4D_uc010xlh.2_Missense_Mutation_p.A232V|ATG4D_uc010dxh.3_Non-coding_Transcript|ATG4D_uc010dxi.3_Non-coding_Transcript|ATG4D_uc010dxj.3_Intron	NM_032885	NP_116274	Q86TL0	ATG4D_HUMAN	Homo sapiens ATG4 autophagy related 4 homolog D (S. cerevisiae) (ATG4D), mRNA.	295					autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			GACCCCACAGCCGAGTGGAAG	0.622000														19			15		0	0	0.000422831	0	0
FAM118A	55007	broad.mit.edu	37	22	45719294	45719294	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr22:45719294C>T	uc003bfz.4	+	3	902	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W	FAM118A_uc003bga.4_Missense_Mutation_p.R96W	NM_001104595	NP_060381	Q9NWS6	F118A_HUMAN	Homo sapiens family with sequence similarity 118, member A (FAM118A), transcript variant 1, mRNA.	96						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		TGATCTGATCCGGAAGATGTC	0.547000														35			19		0	0	0.000375601	0	0
GPA33	10223	broad.mit.edu	37	1	167023580	167023580	+	Silent	SNP	G	A	A	rs35152579		TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:167023580G>A	uc001gea.1	-	6	1295	c.951C>T	c.(949-951)ctC>ctT	p.L317L		NM_005814	NP_005805	Q99795	GPA33_HUMAN	Homo sapiens glycoprotein A33 (transmembrane) (GPA33), mRNA.	317						integral to plasma membrane	receptor activity			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						GTCACTGGTCGAGGTGGTCCG	0.592000														74			25		0	0	0.00209593	0	0
OR5D14	219436	broad.mit.edu	37	11	55563223	55563223	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:55563223C>T	uc010rim.2	+	0	192	c.192C>T	c.(190-192)ttC>ttT	p.F64F		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 14 (OR5D14), mRNA.	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TGTACTTTTTCCTTAGTCACC	0.368000														27			16		0	0	0.000566183	0	0
HSPG2	3339	broad.mit.edu	37	1	22173080	22173080	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:22173080G>A	uc009vqd.3	-	62	8220	c.8180C>T	c.(8179-8181)tCc>tTc	p.S2727F	HSPG2_uc001bfj.3_Missense_Mutation_p.S2726F	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	2726	Ig-like C2-type 13.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GATGGGCATGGAGCTGCCAGG	0.597000														49			25		0	0	0.00127121	0	0
ENPP1	5167	broad.mit.edu	37	6	132168966	132168966	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:132168966G>A	uc011ecf.2	+	1	311	c.291G>A	c.(289-291)ttG>ttA	p.L97L		NM_006208	NP_006199	P22413	ENPP1_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), mRNA.	97					3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TATTTGGGTTGAAACCAAGCT	0.358000														6			16		0	0	0.000958276	0	0
SLC2A7	155184	broad.mit.edu	37	1	9073680	9073680	+	Silent	SNP	C	T	T	rs146907896		TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:9073680C>T	uc009vmo.1	-	7	918	c.918G>A	c.(916-918)gcG>gcA	p.A306A		NM_207420	NP_997303	Q6PXP3	GTR7_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 7 (SLC2A7), mRNA.	306						integral to membrane|plasma membrane	sugar transmembrane transporter activity			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		AGATGGTGTCCGCATAGTAGT	0.532000														22			19		0	0	0.00188189	0	0
FIGF	2277	broad.mit.edu	37	X	15364352	15364352	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:15364352C>A	uc004cwt.2	-	6	1435	c.968G>T	c.(967-969)aGa>aTa	p.R323I	FIGF_uc022bth.1_Non-coding_Transcript	NM_004469	NP_004460	O43915	VEGFD_HUMAN	Homo sapiens c-fos induced growth factor (vascular endothelial growth factor D) (FIGF), mRNA.	323					angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway	extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17	Hepatocellular(33;0.183)					TGCACATGGTCTGGTATGAAA	0.458000														7			35		3.2961e-07	1.51122e-06	0.000953801	1	0
PRODH2	58510	broad.mit.edu	37	19	36303125	36303125	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:36303125G>A	uc002obx.1	-	3	667	c.649C>T	c.(649-651)Ctg>Ttg	p.L217L		NM_021232	NP_067055	Q9UF12	PROD2_HUMAN	Homo sapiens proline dehydrogenase (oxidase) 2 (PRODH2), mRNA.	217					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCCCGTGACAGGTCCACACAC	0.652000														14			16		0	0	0.000566183	0	0
SLC16A14	151473	broad.mit.edu	37	2	230910801	230910801	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:230910801C>T	uc002vqd.2	-	3	1500	c.1041G>A	c.(1039-1041)tcG>tcA	p.S347S	FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.3_Silent_p.S347S|SLC16A14_uc002vqf.3_Silent_p.S347S	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	Homo sapiens solute carrier family 16, member 14 (monocarboxylic acid transporter 14) (SLC16A14), mRNA.	347						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)		CGTTTTGCTCCGATAAGTTAT	0.423000														21			8		0	0	0.000274275	0	0
KIF23	9493	broad.mit.edu	37	15	69728068	69728068	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:69728068C>T	uc002asb.3	+	11	1408	c.1230C>T	c.(1228-1230)atC>atT	p.I410I	KIF23_uc002asc.3_Silent_p.I410I|KIF23_uc010bii.3_Silent_p.I300I|KIF23_uc010ukc.2_Silent_p.I227I|KIF23_uc010bih.2_Non-coding_Transcript	NM_138555	NP_612565	Q02241	KIF23_HUMAN	Homo sapiens kinesin family member 23 (KIF23), transcript variant 1, mRNA.	410					blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						TGCGGATGATCGTGTGTGTGA	0.368000														44			35		0	0	0.00058488	0	0
STK33	65975	broad.mit.edu	37	11	8486300	8486300	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:8486300C>T	uc001mgi.1	-	2	1328	c.409G>A	c.(409-411)Gaa>Aaa	p.E137K	STK33_uc001mgj.1_Missense_Mutation_p.E137K|STK33_uc001mgk.1_Missense_Mutation_p.E137K|STK33_uc010rbn.1_Missense_Mutation_p.E96K|STK33_uc001mgl.3_5'UTR|STK33_uc009yfp.3_Intron	NM_030906	NP_112168	Q9BYT3	STK33_HUMAN	Homo sapiens serine/threonine kinase 33 (STK33), mRNA.	137	Protein kinase.					Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		GTTTCTGTTTCCTTGTCTGTC	0.408000														57			27		0	0	0.000491102	0	0
OR1B1	347169	broad.mit.edu	37	9	125391722	125391722	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:125391722G>A	uc011lyz.2	-	0	93	c.93C>T	c.(91-93)ttC>ttT	p.F31F		NM_001004450	NP_001004450	Q8NGR6	OR1B1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily B, member 1 (OR1B1), mRNA.	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						CCAGGAACAGGAAGAAGAGGA	0.498000														32			16		0	0	0.000422831	0	0
ANKRD27	84079	broad.mit.edu	37	19	33119636	33119636	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:33119636G>A	uc002ntn.1	-	13	1485	c.1329C>T	c.(1327-1329)ctC>ctT	p.L443L		NM_032139	NP_115515	Q96NW4	ANR27_HUMAN	Homo sapiens ankyrin repeat domain 27 (VPS9 domain) (ANKRD27), mRNA.	443					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					ACCCAGAGACGAGTTTCTCAC	0.527000														48			33		0	0	0.00170553	0	0
BCL6	604	broad.mit.edu	37	3	187447572	187447572	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:187447572G>A	uc003frp.3	-	4	1078	c.621C>T	c.(619-621)ctC>ctT	p.L207L	LOC100131635_uc021xio.1_Intron|BCL6_uc011bsf.1_Silent_p.L207L|BCL6_uc010hza.2_Silent_p.L105L|BCL6_uc003frq.2_Silent_p.L207L	NM_001130845	NP_001697	P41182	BCL6_HUMAN	Homo sapiens B-cell CLL/lymphoma 6 (BCL6), transcript variant 2, mRNA.	207					negative regulation of B cell apoptosis|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		CATCGGAGAAGAGGAGGCTGC	0.617000			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""									18			13		0	0	0.00136819	0	0
TRIM65	201292	broad.mit.edu	37	17	73887135	73887135	+	Missense_Mutation	SNP	C	G	G	rs145909647		TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:73887135C>G	uc002jpx.3	-	5	1315	c.1279G>C	c.(1279-1281)Gtc>Ctc	p.V427L		NM_173547	NP_775818	Q6PJ69	TRI65_HUMAN	Homo sapiens tripartite motif containing 65 (TRIM65), transcript variant 1, mRNA.	427	B30.2/SPRY.					intracellular	zinc ion binding			endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12			Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCCTCCTGGACGCAGAGCCCC	0.692000														10			4		0	0	0.00024832	0	0
SGCA	6442	broad.mit.edu	37	17	48245370	48245370	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:48245370G>A	uc002iqi.3	+	3	411	c.375G>A	c.(373-375)ggG>ggA	p.G125G	SGCA_uc010wmh.1_Silent_p.G23G|SGCA_uc002iqj.3_Silent_p.G125G|SGCA_uc010wmi.2_Non-coding_Transcript	NM_000023	NP_000014	Q16586	SGCA_HUMAN	Homo sapiens sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) (SGCA), transcript variant 1, mRNA.	125					muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						TGGAGATTGGGGACCCAGAAG	0.602000														65			27		0	0	0.00106085	0	0
HFE2	148738	broad.mit.edu	37	1	145415781	145415781	+	Silent	SNP	T	C	C			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:145415781T>C	uc001eni.2	+	2	925	c.600T>C	c.(598-600)ttT>ttC	p.F200F	HFE2_uc001enk.2_Silent_p.F87F|HFE2_uc001enj.2_Intron|HFE2_uc001enl.2_Intron|HFE2_uc021oux.1_5'Flank	NM_213653	NP_660320	Q6ZVN8	RGMC_HUMAN	Homo sapiens hemochromatosis type 2 (juvenile) (HFE2), transcript variant a, mRNA.	200					axon guidance	anchored to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ACTTCCTCTTTGTCCAAGCCA	0.582000														92			29		0	0	0.00127121	0	0
TRIP13	9319	broad.mit.edu	37	5	896822	896822	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:896822C>T	uc003jbr.3	+	2	446	c.301C>T	c.(301-303)Cag>Tag	p.Q101*	TRIP13_uc010ite.2_Nonsense_Mutation_p.Q101*	NM_004237	NP_004228	Q15645	PCH2_HUMAN	Homo sapiens thyroid hormone receptor interactor 13 (TRIP13), transcript variant 1, mRNA.	101					double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter		ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			TCACATTTTCCAGCTGAATGA	0.448000														42			31		0	0	0.00058488	0	0
DRGX	644168	broad.mit.edu	37	10	50599893	50599893	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:50599893G>A	uc010qgq.2	-	0	15	c.15C>T	c.(13-15)agC>agT	p.S5S	DRGX_uc021pqd.1_Intron	NM_001080520	NP_001073989	C9JW76	C9JW76_HUMAN	Homo sapiens dorsal root ganglia homeobox (DRGX), mRNA.	5					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						GTTGGTCACAGCTCATCAGCA	0.398000														8			4		0	0	0.00024832	0	0
FRAS1	80144	broad.mit.edu	37	4	79366741	79366741	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:79366741G>A	uc003hlb.2	+	41	6171	c.5731G>A	c.(5731-5733)Gaa>Aaa	p.E1911K	FRAS1_uc003hkw.3_Missense_Mutation_p.E1911K|FRAS1_uc010ijj.2_Missense_Mutation_p.E331K	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	1910					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AGACGTCCTGGAAAACTACAT	0.398000														60			33		0	0	0.0024448	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57070167	57070167	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:57070167C>G	uc001njr.3	-	5	4761	c.4449G>C	c.(4447-4449)gaG>gaC	p.E1483D	TNKS1BP1_uc001njq.3_Missense_Mutation_p.E55D|TNKS1BP1_uc001njs.3_Missense_Mutation_p.E1483D	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	Homo sapiens tankyrase 1 binding protein 1, 182kDa (TNKS1BP1), mRNA.	1483	Acidic.|Tankyrase-binding.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CTCCTTCCTCCTCCAACAGGC	0.711000														10			6		0	0	0.000442599	0	0
C17orf66	256957	broad.mit.edu	37	17	34192286	34192286	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:34192286C>T	uc002hke.1	-	2	402	c.253G>A	c.(253-255)Gac>Aac	p.D85N	C17orf66_uc010wck.1_Non-coding_Transcript|C17orf66_uc010wcl.1_Missense_Mutation_p.D85N|C17orf66_uc010wcm.1_Missense_Mutation_p.D51N	NM_152781	NP_689994	A2RTY3	CQ066_HUMAN	Homo sapiens chromosome 17 open reading frame 66 (C17orf66), mRNA.	85							binding	p.H84Q(2)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		TCATACAGGTCGTGCCAGTGC	0.512000														61			22		0	0	0.001512	0	0
THSD1	55901	broad.mit.edu	37	13	52952920	52952920	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr13:52952920G>A	uc001vgo.3	-	4	1730	c.1185C>T	c.(1183-1185)ttC>ttT	p.F395F	THSD1_uc001vgp.3_Silent_p.F342F|THSD1_uc010tgz.2_Silent_p.F16F	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	Homo sapiens thrombospondin, type I, domain containing 1 (THSD1), transcript variant 1, mRNA.	395						extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		TGGATGGCTGGAAAGCTGcaa	0.368000														18			12		0	0	0.000978159	0	0
ZNF311	282890	broad.mit.edu	37	6	28962847	28962847	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:28962847C>T	uc003nlu.2	-	6	2443	c.1932G>A	c.(1930-1932)ggG>ggA	p.G644G	ZNF311_uc011dlk.1_Silent_p.G552G|ZNF311_uc003nlv.2_Silent_p.G552G	NM_001010877	NP_001010877	Q5JNZ3	ZN311_HUMAN	Homo sapiens zinc finger protein 311 (ZNF311), mRNA.	644					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						ATTTCCTACTCCCATCAAGTT	0.398000														20			16		0	0	0.00074312	0	0
SCN11A	11280	broad.mit.edu	37	3	38946752	38946752	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:38946752C>T	uc021wvy.1	-	10	1733	c.1534G>A	c.(1534-1536)Gag>Aag	p.E512K		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	512					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TCTCCATGCTCATCAAAGTGG	0.507000														55			40		0	0	0.00170553	0	0
ZFP28	140612	broad.mit.edu	37	19	57059204	57059204	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:57059204C>T	uc002qnj.3	+	3	527	c.456C>T	c.(454-456)atC>atT	p.I152I	ZFP28_uc002qni.3_Silent_p.I152I|BX647249_uc002qnk.1_Intron	NM_020828	NP_065879	Q8NHY6	ZFP28_HUMAN	Homo sapiens zinc finger protein 28 homolog (mouse) (ZFP28), mRNA.	152	KRAB 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I152M(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		CCGATGTGATCTCCTCGTTGG	0.512000														54			29		0	0	0.000692331	0	0
SLC2A11	66035	broad.mit.edu	37	22	24226491	24226491	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr22:24226491G>A	uc011ajc.1	+	9	1649	c.1159G>A	c.(1159-1161)Gga>Aga	p.G387R	SLC2A11_uc002zym.4_Missense_Mutation_p.G396R|SLC2A11_uc002zyn.4_Missense_Mutation_p.G389R|SLC2A11_uc002zyo.4_Non-coding_Transcript|SLC2A11_uc002zyp.4_Missense_Mutation_p.G392R			Q9BYW1	GTR11_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 11 (SLC2A11), transcript variant 1, mRNA.	389						integral to membrane|plasma membrane	sugar transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						CCTTCTAGCCGGAGTGACGGG	0.672000														15			9		0	0	0.000442599	0	0
TCF4	6925	broad.mit.edu	37	18	52895576	52895576	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr18:52895576C>T	uc002lga.3	-	19	2262	c.2202G>A	c.(2200-2202)ccG>ccA	p.P734P	TCF4_uc021ukg.1_Silent_p.P468P|TCF4_uc021ukh.1_Silent_p.P468P|TCF4_uc002lfw.4_Silent_p.P472P|TCF4_uc010xdu.1_Silent_p.P498P|TCF4_uc010xdv.1_Silent_p.P498P|TCF4_uc021uki.1_Silent_p.P557P|TCF4_uc002lfx.2_Silent_p.P561P|TCF4_uc010xdw.1_Silent_p.P498P|TCF4_uc002lfy.2_Silent_p.P586P|TCF4_uc010xdx.1_Silent_p.P604P|TCF4_uc021ukj.1_Silent_p.P568P|TCF4_uc021ukk.1_Silent_p.P572P|TCF4_uc021ukl.1_Silent_p.P625P|TCF4_uc002lfz.2_Silent_p.P628P|TCF4_uc010dph.1_Silent_p.P632P|TCF4_uc010dpi.3_Silent_p.P638P|TCF4_uc010xdy.1_Silent_p.P608P	NM_001243226	NP_001230155	P15884	ITF2_HUMAN	Homo sapiens transcription factor 4 (TCF4), transcript variant 3, mRNA.	628					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding|protein C-terminus binding|protein heterodimerization activity|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		ACGCAGCTTTCGGATTCAGAT	0.532000														73			52		0	0	0.000781405	0	0
WNT3A	89780	broad.mit.edu	37	1	228246896	228246896	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:228246896C>T	uc001hrp.2	+	3	896	c.789C>T	c.(787-789)ttC>ttT	p.F263F	WNT3A_uc001hrq.2_Silent_p.F263F	NM_033131	NP_149122	P56704	WNT3A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 3A (WNT3A), mRNA.	263					Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway|axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				ACACCTACTTCAAGGTGCCCA	0.667000														27			7		0	0	0.00198382	0	0
EPHA6	285220	broad.mit.edu	37	3	96706808	96706808	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:96706808G>A	uc010how.1	+	2	1128	c.1085G>A	c.(1084-1086)gGa>gAa	p.G362E	EPHA6_uc003drp.1_Missense_Mutation_p.G362E	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	267	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TGCAGTACAGGATATGAAGAA	0.348000														18			14		0	0	0.00185496	0	0
C11orf70	85016	broad.mit.edu	37	11	101937378	101937378	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:101937378G>A	uc001pgp.3	+	3	464	c.431G>A	c.(430-432)cGa>cAa	p.R144Q	C11orf70_uc001pgo.3_Intron|C11orf70_uc001pgq.3_Missense_Mutation_p.R106Q	NM_032930	NP_116319	Q9BRQ4	CK070_HUMAN	Homo sapiens chromosome 11 open reading frame 70 (C11orf70), transcript variant 1, mRNA.	144								p.R106Q(1)		breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		GATGAGTTACGAAGAGTAAGT	0.308000														52			27		0	0	0.000720815	0	0
OR5M11	219487	broad.mit.edu	37	11	56310364	56310364	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:56310364C>T	uc010rjl.2	-	0	370	c.370G>A	c.(370-372)Gcc>Acc	p.A124T	OR8U8_uc001nit.2_Intron	NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 11 (OR5M11), mRNA.	124					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						TCATATATGGCCACATAGCGG	0.468000														13			13		0	0	0.00185496	0	0
ABAT	18	broad.mit.edu	37	16	8862081	8862082	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:8862081_8862082CC>AT	uc002czc.4	+	9	801_802	c.635_636CC>AT	c.(634-636)tcc>tAT	p.S212Y	ABAT_uc002czd.4_Missense_Mutation_p.S212Y|ABAT_uc010buh.3_Missense_Mutation_p.S154Y|ABAT_uc010bui.3_Missense_Mutation_p.S212Y	NM_020686	NP_065737	P80404	GABT_HUMAN	Homo sapiens 4-aminobutyrate aminotransferase (ABAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	212					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	AGCATCCTCTCCTTCATGGGCG	0.515000														54			43		0	0	6.4e-05	0	0
ABCA8	10351	broad.mit.edu	37	17	66936982	66936982	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:66936982G>A	uc002jhq.3	-	3	558	c.218C>T	c.(217-219)tCc>tTc	p.S73F	ABCA8_uc002jhp.3_Missense_Mutation_p.S73F|ABCA8_uc010wqq.2_Missense_Mutation_p.S73F|ABCA8_uc010wqr.2_Missense_Mutation_p.S12F|ABCA8_uc002jhr.3_Missense_Mutation_p.S73F|ABCA8_uc002jhs.3_Missense_Mutation_p.S73F|ABCA8_uc002jht.3_Missense_Mutation_p.S73F	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	73						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					AGAAAATCTGGATTCATTAAA	0.383000														25			41		0	0	0.00195071	0	0
MYO3B	140469	broad.mit.edu	37	2	171056660	171056660	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:171056660G>A	uc002ufy.3	+	3	330	c.187_splice	c.e3-1	p.D63_splice	MYO3B_uc002ufv.3_Splice_Site_p.D50_splice|MYO3B_uc010fqb.1_Splice_Site_p.D63_splice|MYO3B_uc002ufz.3_Splice_Site_p.D63_splice|MYO3B_uc002ufw.3_Splice_Site|MYO3B_uc002ufx.3_Splice_Site|MYO3B_uc002uga.3_Splice_Site_p.D50_splice	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA.	63	Protein kinase.				response to stimulus|visual perception	cytoplasm|myosin complex	ATP binding|actin binding|motor activity|protein serine/threonine kinase activity	p.D63Y(1)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						CCCTGTTTAGGATATGGATGA	0.348000														19			13		0	0	0.00185496	0	0
PLXNC1	10154	broad.mit.edu	37	12	94699023	94699023	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:94699023G>A	uc001tdc.3	+	30	4918	c.4669G>A	c.(4669-4671)Gtc>Atc	p.V1557I	PLXNC1_uc010sut.2_Missense_Mutation_p.V604I|PLXNC1_uc009zsv.3_Missense_Mutation_p.V296I	NM_005761	NP_005752	O60486	PLXC1_HUMAN	Homo sapiens plexin C1 (PLXNC1), transcript variant 1, mRNA.	1557					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GCATGTAAAAGTCTTATTTGA	0.388000														4			4		0	0	0.000602214	0	0
CACNA1D	776	broad.mit.edu	37	3	53736685	53736685	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:53736685G>A	uc003dgv.4	+	8	1401	c.1238G>A	c.(1237-1239)aGa>aAa	p.R413K	CACNA1D_uc003dgu.4_Missense_Mutation_p.R413K|CACNA1D_uc003dgy.4_Missense_Mutation_p.R413K|CACNA1D_uc003dgw.4_Missense_Mutation_p.R60K	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	413					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TCAAAGGAAAGAGAGAAGGCA	0.522000														24			16		0	0	0.000958276	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140731332	140731332	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:140731332C>T	uc003ljo.2	+	0	1505	c.1505C>T	c.(1504-1506)tCc>tTc	p.S502F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc011daq.2_Missense_Mutation_p.S502F	NM_018922	NP_061745	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 1 (PCDHGB1), transcript variant 1, mRNA.	508	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCTACGTGTCCGTGAGCCCG	0.662000														30			14		0	0	0.000308642	0	0
TMEM61	199964	broad.mit.edu	37	1	55457526	55457526	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:55457526A>G	uc001cyd.3	+	2	657	c.383A>G	c.(382-384)gAc>gGc	p.D128G		NM_182532	NP_872338	Q8N0U2	TMM61_HUMAN	Homo sapiens transmembrane protein 61 (TMEM61), mRNA.	128						integral to membrane				endometrium(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	4						AAAGTGGTTGACATCCCCACT	0.632000														47			27		0	0	0.00178596	0	0
MARVELD3	91862	broad.mit.edu	37	16	71674572	71674572	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:71674572G>A	uc002fau.3	+	2	938	c.875G>A	c.(874-876)cGa>cAa	p.R292Q	PHLPP2_uc002fav.3_Non-coding_Transcript|MARVELD3_uc010cge.3_3'UTR	NM_001017967	NP_001017967	Q96A59	MALD3_HUMAN	Homo sapiens MARVEL domain containing 3 (MARVELD3), transcript variant 1, mRNA.	295	MARVEL.					integral to membrane				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				GCCAAGAGTCGAACAATGTTG	0.587000														19			22		0	0	0.000586117	0	0
SLC22A25	387601	broad.mit.edu	37	11	62997062	62997062	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:62997062C>T	uc001nwr.1	-	0	63	c.63G>A	c.(61-63)atG>atA	p.M21I	SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Non-coding_Transcript|SLC22A25_uc001nwt.1_Missense_Mutation_p.M21I	NM_199352	NP_955384	Q6T423	S22AP_HUMAN	Homo sapiens solute carrier family 22, member 25 (SLC22A25), mRNA.	21					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						TAAGGAAAACCATCTGAAGGA	0.463000														35			8		0	0	0.000274275	0	0
PRIMA1	145270	broad.mit.edu	37	14	94203701	94203701	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:94203701G>A	uc001ybw.1	-	3	287	c.245C>T	c.(244-246)tCt>tTt	p.S82F	PRIMA1_uc001ybx.1_Non-coding_Transcript	NM_178013	NP_821092	Q86XR5	PRIMA_HUMAN	Homo sapiens proline rich membrane anchor 1 (PRIMA1), mRNA.	82					neurotransmitter catabolic process	cell junction|integral to membrane|synapse				endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		all_cancers(154;0.127)		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)		AGTGGGGCAAGAGGTAGAGTT	0.552000														23			8		0	0	0.000274275	0	0
OR6K2	81448	broad.mit.edu	37	1	158669861	158669861	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:158669861G>A	uc001fsu.1	-	0	582	c.582C>T	c.(580-582)atC>atT	p.I194I		NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 2 (OR6K2), mRNA.	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					GAATCATGACGATGGCTCGTG	0.468000														77			27		0	0	0.00058488	0	0
USH2A	7399	broad.mit.edu	37	1	215808037	215808037	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:215808037G>A	uc001hku.1	-	69	15448	c.15061C>T	c.(15061-15063)Cta>Tta	p.L5021L		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	5021					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)		GGAGTTGTTAGGACCAAGCCT	0.443000										HNSCC(13;0.011)				75			28		0	0	0.0024448	0	0
GLYATL1	92292	broad.mit.edu	37	11	58722282	58722282	+	Missense_Mutation	SNP	C	T	T	rs151204927		TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:58722282C>T	uc001nnh.2	+	4	369	c.319C>T	c.(319-321)Cgt>Tgt	p.R107C	GLYATL1_uc001nnf.3_Missense_Mutation_p.R76C|LOC283194_uc001nng.1_Intron|GLYATL1_uc001nni.2_Missense_Mutation_p.R76C|GLYATL1_uc001nnj.2_Missense_Mutation_p.R76C	NM_080661	NP_542392	Q969I3	GLYL1_HUMAN	Homo sapiens glycine-N-acyltransferase-like 1 (GLYATL1), transcript variant 1, mRNA.	76						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	AAACGTATATCGTATGTTCTC	0.383000														35			21		0	0	0.000375601	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713730	70713730	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:70713730C>T	uc010ttg.2	-	0	789	c.138G>A	c.(136-138)gtG>gtA	p.V46V						Homo sapiens ADAM metallopeptidase domain 21 pseudogene 1 (ADAM21P1), non-coding RNA.																		AATCATGGTTCACCACAACAA	0.423000														64			28		0	0	0.00209593	0	0
CSMD3	114788	broad.mit.edu	37	8	113697928	113697928	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr8:113697928C>T	uc003ynu.3	-	14	2348	c.2189G>A	c.(2188-2190)gGa>gAa	p.G730E	CSMD3_uc003yns.3_Missense_Mutation_p.G2E|CSMD3_uc003ynt.3_Missense_Mutation_p.G690E|CSMD3_uc011lhx.2_Missense_Mutation_p.G626E	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	730	CUB 4.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAGAACTGTTCCCATTGGTGC	0.358000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				52			24		0	0	0.000878237	0	0
SPATA17	128153	broad.mit.edu	37	1	217915317	217915317	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:217915317G>A	uc001hlh.1	+	6	422	c.396_splice	c.e6-1	p.R132_splice	SPATA17_uc009xdr.1_Splice_Site	NM_138796	NP_620151	Q96L03	SPT17_HUMAN	Homo sapiens spermatogenesis associated 17 (SPATA17), mRNA.	132						cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		TTTGATGCAGGAAGGCACTGG	0.388000														52			17		0	0	0.000958276	0	0
CRB1	23418	broad.mit.edu	37	1	197404099	197404099	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:197404099G>A	uc001gtz.3	+	8	3315	c.3106G>A	c.(3106-3108)Gaa>Aaa	p.E1036K	CRB1_uc010poz.2_Missense_Mutation_p.E1012K|CRB1_uc009wza.3_Missense_Mutation_p.E924K|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Intron|CRB1_uc010ppd.2_Missense_Mutation_p.E517K|CRB1_uc001gub.1_Missense_Mutation_p.E685K	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	1036	Laminin G-like 3.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CACATGGCACGAAGTGACCCT	0.453000														53			25		0	0	0.00106085	0	0
KIF1A	547	broad.mit.edu	37	2	241728729	241728729	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:241728729G>A	uc010fzk.3	-	3	354	c.107_splice	c.e3-1	p.T36_splice	KIF1A_uc002vzy.3_Splice_Site_p.T36_splice|KIF1A_uc002vzz.2_Splice_Site_p.T36_splice	NM_001244008	NP_001230937	Q12756	KIF1A_HUMAN	Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA.	36	Kinesin-motor.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GTTAACAATGGCTGTGGGAGG	0.597000														16			19		0	0	0.000958276	0	0
SLC25A14	9016	broad.mit.edu	37	X	129506907	129506907	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:129506907A>T	uc004evr.1	+	10	1217	c.1045A>T	c.(1045-1047)Aag>Tag	p.K349*	SLC25A14_uc004evp.1_Nonsense_Mutation_p.K321*|SLC25A14_uc004evq.1_Nonsense_Mutation_p.K318*	NM_022810	NP_073721	O95258	UCP5_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier, brain), member 14 (SLC25A14), nuclear gene encoding mitochondrial protein, transcript variant short, mRNA.	321					aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						CGAGCAGCTAAAGAGGCTTCA	0.403000														36			114		0	0	0.000781405	0	0
SYT15	83849	broad.mit.edu	37	10	46968620	46968620	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:46968620C>T	uc001jea.3	-	2	469	c.316G>A	c.(316-318)Gca>Aca	p.A106T	SYT15_uc001jdz.2_Missense_Mutation_p.A106T|SYT15_uc001jeb.3_5'UTR|SYT15_uc010qfp.1_5'Flank	NM_031912	NP_114118	Q9BQS2	SYT15_HUMAN	Homo sapiens synaptotagmin XV (SYT15), transcript variant a, mRNA.	106						integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						AGCTCTGATGCCGGGCAGGGG	0.667000														20			6		0	0	0.00116845	0	0
CDH13	1012	broad.mit.edu	37	16	83711825	83711825	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:83711825G>A	uc010vns.2	+	10	1702	c.1438G>A	c.(1438-1440)Gaa>Aaa	p.E480K	CDH13_uc002fgx.3_Missense_Mutation_p.E433K|CDH13_uc010vnt.2_Missense_Mutation_p.E179K|CDH13_uc010vnu.2_Missense_Mutation_p.E394K	NM_001220488	NP_001207417	P55290	CAD13_HUMAN	Homo sapiens cadherin 13, H-cadherin (heart) (CDH13), transcript variant 2, mRNA.	433	Cadherin 4.				Rac protein signal transduction|Rho protein signal transduction|adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		ATTGGACTATGAAATTTCTGC	0.527000														23			20		0	0	0.00047179	0	0
ADAM2	2515	broad.mit.edu	37	8	39644506	39644506	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr8:39644506C>T	uc003xnj.3	-	9	953	c.878G>A	c.(877-879)gGa>gAa	p.G293E	ADAM2_uc003xnk.3_Missense_Mutation_p.G274E|ADAM2_uc011lck.2_Missense_Mutation_p.G293E|ADAM2_uc003xnl.3_Intron	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	293	Peptidase M12B.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		AACAACACCTCCTGCATAGTT	0.294000														25			14		0	0	0.000422831	0	0
ICK	22858	broad.mit.edu	37	6	52897349	52897349	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:52897349T>C	uc003pbh.2	-	4	750	c.260A>G	c.(259-261)tAc>tGc	p.Y87C	ICK_uc003pbi.2_Missense_Mutation_p.Y87C|ICK_uc003pbj.3_Missense_Mutation_p.Y87C	NM_016513	NP_057597	Q9UPZ9	ICK_HUMAN	Homo sapiens intestinal cell (MAK-like) kinase (ICK), transcript variant 2, mRNA.	87	Protein kinase.				intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					AATGAGCTGGTAAAGATTTTC	0.308000														33			30		0	0	0.000692331	0	0
TTN	7273	broad.mit.edu	37	2	179495544	179495544	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:179495544A>T	uc021vsy.1	-	186	36662	c.36437T>A	c.(36436-36438)cTa>cAa	p.L12146Q	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.L5841Q|TTN_uc021vta.1_Missense_Mutation_p.L5774Q|TTN_uc021vtb.1_Missense_Mutation_p.L5649Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	13073	Ig-like 81.						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)			TGTTTGGAGTAGGGCCTCTCC	0.468000														19			14		0	0	0.000422831	0	0
DNMBP	23268	broad.mit.edu	37	10	101643875	101643875	+	Missense_Mutation	SNP	T	C	C	rs116046885	by1000genomes	TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:101643875T>C	uc001kqj.2	-	14	3982	c.3890A>G	c.(3889-3891)aAt>aGt	p.N1297S	DNMBP_uc010qpl.1_Missense_Mutation_p.N233S|DNMBP_uc001kqg.2_Missense_Mutation_p.N585S|DNMBP_uc001kqh.2_Missense_Mutation_p.N929S	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	Homo sapiens dynamin binding protein (DNMBP), mRNA.	1297	SH3 5.				intracellular signal transduction|regulation of Rho protein signal transduction	Golgi stack|cell junction|cytoskeleton|synapse	Rho guanyl-nucleotide exchange factor activity|protein binding			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TTGAGCAGCATTGAAGTTCCG	0.517000														44			40		0	0	0.00148497	0	0
CHL1	10752	broad.mit.edu	37	3	425548	425548	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:425548G>A	uc003bot.3	+	18	2868	c.2226G>A	c.(2224-2226)aaG>aaA	p.K742K	CHL1_uc003bou.3_Silent_p.K726K|CHL1_uc003bow.2_Silent_p.K726K|CHL1_uc011asi.2_Silent_p.K742K|BC065754_uc003box.1_Intron	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	726	Fibronectin type-III 2.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CTCAACCCAAGGAAATGATTA	0.343000														40			35		0	0	0.00148497	0	0
PLXNA4	91584	broad.mit.edu	37	7	131883357	131883357	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:131883357C>T	uc003vra.4	-	12	2854	c.2625G>A	c.(2623-2625)aaG>aaA	p.K875K		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	875	IPT/TIG 1.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GGATAGTGACCTTGGTGCCCC	0.547000														28			24		0	0	0.00178596	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303172	151303172	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:151303172C>T	uc022cgz.1	-	0	921	c.921G>A	c.(919-921)agG>agA	p.R307R	MAGEA5_uc022cgy.1_Intron|MAGEA10_uc004ffk.3_Silent_p.R307R|MAGEA10_uc004ffm.2_Silent_p.R307R|MAGEA10_uc004ffl.3_Silent_p.R307R	NM_021048	NP_066386	P43363	MAGAA_HUMAN	Homo sapiens melanoma antigen family A, 10 (MAGEA10), transcript variant 2, mRNA.	307	MAGE.									endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GACTCATCTTCCTAATTTCAG	0.498000														8			57		0	0	0.000781405	0	0
DNAH5	1767	broad.mit.edu	37	5	13830179	13830179	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:13830179C>T	uc003jfd.2	-	36	6247	c.6205G>A	c.(6205-6207)Gat>Aat	p.D2069N		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2069	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTCACATTATCTCCATCAGTA	0.383000									Kartagener syndrome					33			21		0	0	0.00047179	0	0
ZNF627	199692	broad.mit.edu	37	19	11728022	11728022	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:11728022C>T	uc002msk.2	+	3	912	c.704C>T	c.(703-705)tCc>tTc	p.S235F		NM_145295	NP_660338	Q7L945	ZN627_HUMAN	Homo sapiens zinc finger protein 627 (ZNF627), mRNA.	235					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						TTCAGTTGTTCCAGTTACATT	0.393000														16			8		0	0	0.000157383	0	0
PPAP2C	8612	broad.mit.edu	37	19	287697	287697	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:287697C>T	uc002loh.3	-	2	425	c.322G>A	c.(322-324)Gac>Aac	p.D108N	PPAP2C_uc002loi.3_Missense_Mutation_p.D87N|PPAP2C_uc002loj.3_Missense_Mutation_p.D31N	NM_177543	NP_803545	O43688	LPP2_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2C (PPAP2C), transcript variant 3, mRNA.	87					sphingolipid metabolic process	integral to membrane|plasma membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)|skin(1)	5		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGTTGAAGTCCGAGCGAGAA	0.602000														140			68		0	0	0.000781405	0	0
CACNA1A	773	broad.mit.edu	37	19	13445274	13445274	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:13445274G>A	uc002mwy.3	-	7	1352	c.1116C>T	c.(1114-1116)aaC>aaT	p.N372N	CACNA1A_uc010xnd.2_Silent_p.N372N|CACNA1A_uc021ups.1_Silent_p.N372N|CACNA1A_uc010xne.2_Silent_p.N372N|CACNA1A_uc010dze.2_Silent_p.N372N|CACNA1A_uc021upt.1_Silent_p.N372N	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	372					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	AAGCCCGCCGGTTCTCCACCC	0.488000														42			22		0	0	0.00127121	0	0
DSCAM	1826	broad.mit.edu	37	21	42080528	42080528	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr21:42080528C>T	uc002yyq.1	-	1	665	c.213G>A	c.(211-213)ggG>ggA	p.G71G	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	71	Ig-like C2-type 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			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)				CGTGGCGGATCCCGGGGACAT	0.567000														31			21		0	0	0.000375601	0	0
MAPK3	5595	broad.mit.edu	37	16	30133240	30133240	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:30133240G>A	uc002dws.3	-	1	358	c.258C>T	c.(256-258)ctC>ctT	p.L86L	BOLA2_uc010bzb.1_Intron|MAPK3_uc002dwr.3_5'UTR|MAPK3_uc002dwv.4_Silent_p.L86L|MAPK3_uc002dwt.3_Silent_p.L86L	NM_002746	NP_002737	P27361	MK03_HUMAN	Homo sapiens mitogen-activated protein kinase 3 (MAPK3), transcript variant 1, mRNA.	86	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription initiation from RNA polymerase I promoter	cytosol|nucleoplasm	ATP binding|MAP kinase activity|phosphatase binding									Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605)	GGATCTCCCGGAGCGTGCGCT	0.602000														21			11		0	0	0.000978159	0	0
MCTP1	79772	broad.mit.edu	37	5	94259726	94259726	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:94259726C>T	uc003kkx.2	-	7	1213	c.1213_splice	c.e7-1	p.E405_splice	MCTP1_uc003kkv.2_Splice_Site_p.E184_splice|MCTP1_uc003kkw.2_Intron|MCTP1_uc003kkz.2_Splice_Site_p.E66_splice|MCTP1_uc003kku.2_Intron	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	Homo sapiens multiple C2 domains, transmembrane 1 (MCTP1), transcript variant L, mRNA.	405					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TCTGAAAGTTCCTAGAAACAA	0.264000														33			23		0	0	0.00047179	0	0
UBE2Q2	92912	broad.mit.edu	37	15	76175716	76175716	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:76175716C>T	uc002bbg.2	+	8	1221	c.835C>T	c.(835-837)Cca>Tca	p.P279S	UBE2Q2_uc002bbh.2_Missense_Mutation_p.P244S|UBE2Q2_uc010umn.1_Missense_Mutation_p.P263S|UBE2Q2_uc002bbi.2_Missense_Mutation_p.P160S	NM_173469	NP_775740	Q8WVN8	UB2Q2_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2Q family member 2 (UBE2Q2), transcript variant 1, mRNA.	279					protein K48-linked ubiquitination	cytoplasm	ATP binding|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	12						GGATAACTTTCCATTTGATCC	0.269000														67			42		0	0	0.000680045	0	0
VAV1	7409	broad.mit.edu	37	19	6821869	6821869	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:6821869G>A	uc002mfu.1	+	4	546	c.449_splice	c.e4+1	p.D150_splice	VAV1_uc010xjh.1_Splice_Site_p.D150_splice|VAV1_uc010dva.1_Splice_Site_p.D150_splice|VAV1_uc002mfv.1_Splice_Site_p.D95_splice	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	150					T cell costimulation|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CGACCAGATCGAGTGAGTGCT	0.642000														46			28		0	0	0.00058488	0	0
SRCAP	10847	broad.mit.edu	37	16	30748595	30748596	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:30748595_30748596AC>TT	uc002dze.1	+	33	7619_7620	c.7234_7235AC>TT	c.(7234-7236)act>TTt	p.T2412F	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.T2207F	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	2412					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GGCAAACCACACTCCTGTCATA	0.644000														19			8		0	0	6.4e-05	0	0
DLG5	9231	broad.mit.edu	37	10	79581859	79581859	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:79581859C>T	uc001jzk.3	-	15	2453	c.2383_splice	c.e15-1	p.V795_splice	DLG5_uc001jzi.3_5'Flank|DLG5_uc001jzj.3_Intron|DLG5_uc009xru.1_Splice_Site|DLG5_uc001jzl.4_Splice_Site_p.V399_splice	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.	795	PDZ 2.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TGAGGGAATACCTAGGCAGGG	0.507000														40			25		0	0	0.000586117	0	0
BSDC1	55108	broad.mit.edu	37	1	32842272	32842272	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:32842272G>A	uc001bvi.3	-	8	845	c.798C>T	c.(796-798)ttC>ttT	p.F266F	BSDC1_uc001bvh.4_Silent_p.F249F|BSDC1_uc010ohg.2_Silent_p.F266F|BSDC1_uc010ohh.2_Silent_p.F193F|BSDC1_uc010ohi.2_Silent_p.F154F|BSDC1_uc001bvg.4_Non-coding_Transcript|BSDC1_uc001bvj.3_Silent_p.F145F			Q9NW68	BSDC1_HUMAN	Homo sapiens BSD domain containing 1 (BSDC1), transcript variant 1, mRNA.	249							protein binding			breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CTCCTTCAGGGAATGTAGAAA	0.532000														40			33		0	0	0.00058488	0	0
CRYL1	51084	broad.mit.edu	37	13	21013861	21013861	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr13:21013861C>T	uc001une.3	-	3	388	c.309G>A	c.(307-309)aaG>aaA	p.K103K	CRYL1_uc001unf.3_Silent_p.K81K|CRYL1_uc001ung.3_Silent_p.K81K|CRYL1_uc010tcp.1_5'UTR	NM_015974	NP_057058	Q9Y2S2	CRYL1_HUMAN	Homo sapiens crystallin, lambda 1 (CRYL1), mRNA.	103					fatty acid metabolic process	cytosol	3-hydroxyacyl-CoA dehydrogenase activity|L-gulonate 3-dehydrogenase activity|NAD+ binding|protein homodimerization activity			NS(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(29;2.27e-23)|all_epithelial(30;1.69e-19)|all_lung(29;8.29e-18)|Lung SC(185;0.0262)|Ovarian(182;0.0827)|Hepatocellular(188;0.244)		all cancers(112;6.6e-05)|Epithelial(112;0.00178)|OV - Ovarian serous cystadenocarcinoma(117;0.0169)|Lung(94;0.0215)|GBM - Glioblastoma multiforme(144;0.0402)|LUSC - Lung squamous cell carcinoma(192;0.061)		CAAAAATCTTCTTCTTCAGTT	0.423000														39			27		0	0	0.00127121	0	0
PHF19	26147	broad.mit.edu	37	9	123624282	123624282	+	Splice_Site	SNP	A	C	C			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:123624282A>C	uc004bks.1	-	12	1384	c.1131_splice	c.e12-1	p.G377_splice	PHF19_uc011lyf.1_Splice_Site_p.G168_splice|PHF19_uc004bkr.2_Intron	NM_015651	NP_056466	Q5T6S3	PHF19_HUMAN	Homo sapiens PHD finger protein 19 (PHF19), transcript variant 1, mRNA.	377					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGAGGCAACAAACTGTGGAGA	0.542000														40			29		0	0	0.00178596	0	0
C1QTNF1	114897	broad.mit.edu	37	17	77043939	77043939	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:77043939G>A	uc002jwt.3	+	2	991	c.909G>A	c.(907-909)aaG>aaA	p.K303K	C1QTNF1_uc002jwp.3_Silent_p.K205K|C1QTNF1_uc002jwq.3_Silent_p.K123K|C1QTNF1_uc002jwr.4_Silent_p.K215K|C1QTNF1_uc002jws.3_Silent_p.K205K	NM_198594	NP_940996	Q9BXJ1	C1QT1_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 1 (C1QTNF1), mRNA.	205						collagen				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			GGAACCAGAAGGAGACCTACC	0.557000														49			89		0	0	0.000781405	0	0
CCKBR	887	broad.mit.edu	37	11	6292321	6292321	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:6292321C>T	uc001mcp.3	+	4	1147	c.892C>T	c.(892-894)Cca>Tca	p.P298S	CCKBR_uc001mcq.3_Missense_Mutation_p.P226S|CCKBR_uc001mcr.3_Missense_Mutation_p.P298S|CCKBR_uc001mcs.3_Missense_Mutation_p.P367S|CCKBR_uc001mct.1_Non-coding_Transcript	NM_176875	NP_795344	P32239	GASR_HUMAN	Homo sapiens cholecystokinin B receptor (CCKBR), mRNA.	298					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	CGTGCAACTTCCACGTTCCCG	0.687000														61			31		0	0	0.000491102	0	0
SLC22A7	10864	broad.mit.edu	37	6	43269945	43269945	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:43269945G>A	uc021yzt.1	+	7	1168	c.1069G>A	c.(1069-1071)Gtg>Atg	p.V357M	SLC22A7_uc010jyl.1_Missense_Mutation_p.V358M|SLC22A7_uc003ous.3_Missense_Mutation_p.V355M|SLC22A7_uc003out.3_Missense_Mutation_p.V355M	NM_153320	NP_696961	Q9Y694	S22A7_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 7 (SLC22A7), transcript variant 2, mRNA.	357						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			CAGGTTCGGAGTGAACTTCTC	0.552000														36			29		0	0	0.000953801	0	0
DLG2	1740	broad.mit.edu	37	11	83243803	83243803	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:83243803C>T	uc001paj.2	-	15	2129	c.1826G>A	c.(1825-1827)cGa>cAa	p.R609Q	DLG2_uc001pai.2_Missense_Mutation_p.R506Q|DLG2_uc010rsy.1_Missense_Mutation_p.R576Q|DLG2_uc021qof.1_Missense_Mutation_p.R648Q|DLG2_uc010rsz.1_Missense_Mutation_p.R609Q|DLG2_uc010rta.1_Missense_Mutation_p.R609Q|DLG2_uc001pak.2_Missense_Mutation_p.R714Q|DLG2_uc010rtb.1_Missense_Mutation_p.R576Q|DLG2_uc010rsx.1_Missense_Mutation_p.R90Q|DLG2_uc010rsw.1_Missense_Mutation_p.R91Q	NM_001364	NP_001355	Q15700	DLG2_HUMAN	Homo sapiens discs, large homolog 2 (Drosophila) (DLG2), transcript variant 2, mRNA.	609						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TGTCTTCAATCGGGCACGTTC	0.398000														29			17		0	0	0.00121646	0	0
ATP2B2	491	broad.mit.edu	37	3	10370590	10370590	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:10370590C>T	uc003bvt.3	-	22	4079	c.3640G>A	c.(3640-3642)Gac>Aac	p.D1214N	ATP2B2_uc003bvv.3_Missense_Mutation_p.D1169N|ATP2B2_uc003bvw.3_Missense_Mutation_p.D1169N|ATP2B2_uc003bvs.3_Non-coding_Transcript|ATP2B2_uc010hdo.3_Missense_Mutation_p.D919N	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	1214					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding	p.D1214N(1)|p.D1169N(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						ATCCCACTGTCGATGGCGCTG	0.572000														51			23		0	0	0.000586117	0	0
ADAM7	8756	broad.mit.edu	37	8	24333967	24333967	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr8:24333967C>T	uc003xeb.3	+	7	768	c.655C>T	c.(655-657)Cac>Tac	p.H219Y	ADAM7_uc003xec.3_5'UTR	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	219	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TGGTCATCCTCACAATAAACT	0.308000														6			9		0	0	0.000442599	0	0
MTA2	9219	broad.mit.edu	37	11	62361997	62361997	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:62361997G>A	uc001ntq.2	-	15	2073	c.1683C>T	c.(1681-1683)gcC>gcT	p.A561A	TUT1_uc001nto.2_5'Flank|MTA2_uc010rlx.1_Silent_p.A388A	NM_004739	NP_004730	O94776	MTA2_HUMAN	Homo sapiens metastasis associated 1 family, member 2 (MTA2), mRNA.	561					chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						CAGTCTCATAGGCCCGTTTCA	0.547000														31			35		0	0	0.00111076	0	0
ZNF831	128611	broad.mit.edu	37	20	57829230	57829230	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:57829230C>T	uc002yan.3	+	4	4466	c.4466C>T	c.(4465-4467)tCt>tTt	p.S1489F		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1489						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					ATTGCTACCTCTGTGGCTGCC	0.493000														112			30		0	0	0.000491102	0	0
NCKAP5	344148	broad.mit.edu	37	2	133540798	133540798	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:133540798G>A	uc002ttp.3	-	13	3960	c.3586C>T	c.(3586-3588)Cca>Tca	p.P1196S	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	1196							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						ATGCTTGCTGGATTCTTGGAG	0.493000														26			21		0	0	0.00152264	0	0
LRRTM3	347731	broad.mit.edu	37	10	68687037	68687037	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:68687037C>T	uc001jmz.1	+	1	913	c.363C>T	c.(361-363)atC>atT	p.I121I	CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.4_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.3_Silent_p.I121I	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 3 (LRRTM3), mRNA.	121						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						CCAATAGAATCTCCTATTTTC	0.393000														78			53		0	0	0.000781405	0	0
SLC25A19	60386	broad.mit.edu	37	17	73279576	73279576	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:73279576G>A	uc002jns.4	-	2	1297	c.387C>T	c.(385-387)gcC>gcT	p.A129A	SLC25A19_uc010dge.3_Intron|SLC25A19_uc002jnv.4_Silent_p.A129A|SLC25A19_uc002jnu.4_Silent_p.A129A|SLC25A19_uc002jnw.4_Silent_p.A129A|SLC25A19_uc002jnt.4_Silent_p.A129A	NM_021734	NP_068380	Q9HC21	TPC_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19 (SLC25A19), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	129						integral to membrane|mitochondrial inner membrane	binding|deoxynucleotide transmembrane transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08)		all cancers(21;6.82e-07)|Epithelial(20;6.86e-06)			TGGCCATACAGGCAGCCAGGC	0.592000														13			16		0	0	0.00074312	0	0
RAPGEF3	10411	broad.mit.edu	37	12	48134707	48134707	+	Silent	SNP	A	G	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:48134707A>G	uc001rpz.4	-	19	2590	c.2040T>C	c.(2038-2040)agT>agC	p.S680S	AL831948_uc001rpv.3_Non-coding_Transcript|RAPGEF3_uc001rpw.3_5'UTR|RAPGEF3_uc001rpx.3_Silent_p.S95S|RAPGEF3_uc010sln.2_Silent_p.S153S|RAPGEF3_uc001rpy.3_Non-coding_Transcript|RAPGEF3_uc009zkp.3_Silent_p.S638S|RAPGEF3_uc009zkq.3_Silent_p.S638S	NM_001098531	NP_006096	A8K2G5	A8K2G5_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 3 (RAPGEF3), transcript variant 1, mRNA.	638					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		CCTGGTGGATACTGTTGAAGA	0.682000														24			13		0	0	0.000566183	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73067264	73067264	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:73067264C>T	uc001otu.3	+	5	3729	c.3708C>T	c.(3706-3708)ctC>ctT	p.L1236L		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17 (ARHGEF17), mRNA.	1236	DH.				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						ACCATCCACTCCTGCTGGAGG	0.652000														15			12		0	0	0.00136819	0	0
PGRMC2	10424	broad.mit.edu	37	4	129193638	129193638	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:129193638G>A	uc003igg.3	-	1	1492	c.525C>T	c.(523-525)gcC>gcT	p.A175A		NM_006320	NP_006311			Homo sapiens progesterone receptor membrane component 2 (PGRMC2), mRNA.																		GTCCTCTGGAGGCATCCCTAC	0.373000														22			9		0	0	0.000442599	0	0
USP19	10869	broad.mit.edu	37	3	49154907	49154907	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:49154907G>A	uc003cwd.2	-	4	888	c.569C>T	c.(568-570)cCc>cTc	p.P190L	USP19_uc003cwa.3_5'UTR|USP19_uc003cwb.3_Missense_Mutation_p.P175L|USP19_uc003cvz.4_Missense_Mutation_p.P190L|USP19_uc011bcg.2_Missense_Mutation_p.P190L|USP19_uc003cwc.2_5'Flank|USP19_uc011bch.2_Missense_Mutation_p.P190L|USP19_uc011bci.2_Missense_Mutation_p.P175L	NM_006677	NP_006668	O94966	UBP19_HUMAN	Homo sapiens ubiquitin specific peptidase 19 (USP19), transcript variant 4, mRNA.	190	CS 1.				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CACCTTTTTGGGCAGTGTCAG	0.552000														33			20		0	0	0.00229938	0	0
IKZF1	10320	broad.mit.edu	37	7	50468178	50468178	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:50468178C>T	uc003tow.4	+	7	1568	c.1413C>T	c.(1411-1413)ttC>ttT	p.F471F	IKZF1_uc022acq.1_Silent_p.F328F|IKZF1_uc003tpa.4_Silent_p.F236F|IKZF1_uc022acr.1_Silent_p.F246F|IKZF1_uc022acs.1_Silent_p.F201F|IKZF1_uc022act.1_Silent_p.F374F|IKZF1_uc022acu.1_Silent_p.F384F|IKZF1_uc003tox.4_Silent_p.F429F|IKZF1_uc022acv.1_Silent_p.F332F|IKZF1_uc022acw.1_Silent_p.F342F|IKZF1_uc022acx.1_Silent_p.F384F|IKZF1_uc022acy.1_Silent_p.F278F|IKZF1_uc022acz.1_Silent_p.F288F|IKZF1_uc011kck.2_Silent_p.F384F|IKZF1_uc003toy.4_Silent_p.F429F|IKZF1_uc003toz.4_Silent_p.F441F|IKZF1_uc010kyx.3_Silent_p.F211F	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA.	471	Required for binding PP1CC (By similarity).				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GGGTGCTCTTCCTGGATCACG	0.617000			"""D,T"""	BCL6	"""ALL, DLBCL"""									10			6		0	0	0.00198382	0	0
MCM8	84515	broad.mit.edu	37	20	5932719	5932719	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:5932719A>G	uc002wmk.3	+	1	435	c.58A>G	c.(58-60)Agg>Ggg	p.R20G	TRMT6_uc002wmh.1_5'Flank|TRMT6_uc010zra.1_5'Flank|TRMT6_uc010gbn.1_5'Flank|TRMT6_uc010gbo.1_5'Flank|MCM8_uc002wmi.3_Missense_Mutation_p.R20G|MCM8_uc002wmj.3_Missense_Mutation_p.R20G|MCM8_uc002wml.3_Missense_Mutation_p.R20G|MCM8_uc010gbp.3_Missense_Mutation_p.R20G	NM_032485	NP_115874	Q9UJA3	MCM8_HUMAN	Homo sapiens minichromosome maintenance complex component 8 (MCM8), transcript variant 1, mRNA.	20					DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						AAGCTGGAAAAGGGGAAGAGG	0.428000														38			4		0	0	0.000602214	0	0
TMF1	7110	broad.mit.edu	37	3	69092986	69092986	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:69092986G>A	uc011bfx.2	-	3	1749	c.1502C>T	c.(1501-1503)tCc>tTc	p.S501F	TMF1_uc003dnn.3_Missense_Mutation_p.S498F	NM_007114	NP_009045	P82094	TMF1_HUMAN	Homo sapiens TATA element modulatory factor 1 (TMF1), mRNA.	498					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		ATCTTTCAAGGAAGAAATGCT	0.323000														35			13		0	0	0.00136819	0	0
PTPRT	11122	broad.mit.edu	37	20	40980866	40980866	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:40980866C>T	uc002xkg.3	-	9	1804	c.1620G>A	c.(1618-1620)ggG>ggA	p.G540G	PTPRT_uc010ggj.3_Silent_p.G540G	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	540	Fibronectin type-III 3.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGAACACTTTCCCCCTCTGGC	0.527000														53			86		0	0	0.000781405	0	0
NUCB2	4925	broad.mit.edu	37	11	17316984	17316984	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:17316984C>T	uc001mmw.3	+	2	359	c.114C>T	c.(112-114)caC>caT	p.H38H	NUCB2_uc001mms.1_Silent_p.H39H|NUCB2_uc001mmt.1_Silent_p.H38H|NUCB2_uc009ygw.1_Non-coding_Transcript|NUCB2_uc001mmv.1_Silent_p.H38H|NUCB2_uc009ygx.1_Non-coding_Transcript|NUCB2_uc009ygy.1_Silent_p.H38H|NUCB2_uc009ygz.3_Silent_p.H38H	NM_005013	NP_005004	P80303	NUCB2_HUMAN	Homo sapiens nucleobindin 2 (NUCB2), mRNA.	38						ER-Golgi intermediate compartment|Golgi apparatus|cytosol|extracellular space|plasma membrane	DNA binding|calcium ion binding			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						AAAATATTCACCCTGTGGAAA	0.348000														100			73		0	0	0.000781405	0	0
ADCY10	55811	broad.mit.edu	37	1	167817666	167817666	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:167817666A>C	uc001ger.3	-	18	2668	c.2370T>G	c.(2368-2370)agT>agG	p.S790R	ADCY10_uc010plj.2_Missense_Mutation_p.S637R|ADCY10_uc009wvk.3_Missense_Mutation_p.S698R|ADCY10_uc009wvl.3_Missense_Mutation_p.S789R	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	790					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AGACTTCTTCACTTTCCTTAT	0.423000														73			29		0	0	0.0024448	0	0
UNC5B	219699	broad.mit.edu	37	10	73056340	73056340	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:73056340C>T	uc001jro.3	+	14	2782	c.2331C>T	c.(2329-2331)atC>atT	p.I777I	UNC5B_uc001jrp.3_Silent_p.I766I	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	Homo sapiens unc-5 homolog B (C. elegans) (UNC5B), transcript variant 1, mRNA.	777					apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						TGCAGGAGATCCCCTTCTATC	0.607000														12			8		0	0	0.000157383	0	0
OR5R1	219479	broad.mit.edu	37	11	56185123	56185123	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:56185123C>T	uc010rji.2	-	0	586	c.586G>A	c.(586-588)Gaa>Aaa	p.E196K	OR8U8_uc001nit.2_Intron	NM_001004744	NP_001004744	Q8NH85	OR5R1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily R, member 1 (OR5R1), mRNA.	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E196K(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					ATCAGAATTTCCTTCATGTGT	0.433000														32			20		0	0	0.000958276	0	0
MAGEL2	54551	broad.mit.edu	37	15	23890640	23890640	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:23890640C>T	uc001ywj.4	-	0	2354	c.2250G>A	c.(2248-2250)atG>atA	p.M750I		NM_019066	NP_061939			Homo sapiens MAGE-like 2 (MAGEL2), mRNA.											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CAGCAAAGATCATGCGGTCTT	0.597000														30			15		0	0	0.000308642	0	0
DYDC1	143241	broad.mit.edu	37	10	82098294	82098294	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:82098294C>T	uc001kby.1	-	6	598	c.433G>A	c.(433-435)Gaa>Aaa	p.E145K	DYDC1_uc001kbx.3_Missense_Mutation_p.E145K|DYDC1_uc009xsr.1_Missense_Mutation_p.E145K			Q8WWB3	DYDC1_HUMAN	Homo sapiens DPY30 domain containing 1 (DYDC1), mRNA.	145										kidney(1)|large_intestine(3)|skin(1)	5			Colorectal(32;0.229)			TCGCTGATTTCAGCTAGTGTT	0.328000														61			43		0	0	0.000781405	0	0
IL36G	56300	broad.mit.edu	37	2	113736264	113736264	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:113736264C>T	uc002tio.1	+	1	118	c.49C>T	c.(49-51)Caa>Taa	p.Q17*	IL36G_uc010fkr.1_Nonsense_Mutation_p.Q17*	NM_019618	NP_062564	Q9NZH8	IL36G_HUMAN	Homo sapiens interleukin 36, gamma (IL36G), mRNA.	17					cell-cell signaling	extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						GGCCGTCTATCAATCAAGTGA	0.537000														42			31		0	0	0.000491102	0	0
SMR3A	26952	broad.mit.edu	37	4	71255434	71255434	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:71255434C>T	uc011cas.2	+	2	190	c.109C>T	c.(109-111)Cct>Tct	p.P37S	SMR3A_uc003hfh.3_Missense_Mutation_p.P37S	NM_006685	NP_006676	Q99954	SMR3A_HUMAN	Homo sapiens submaxillary gland androgen regulated protein 3B (SMR3B), mRNA.	37	Poly-Pro.|Pro-rich.					extracellular region				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				ACCGCTGGCTCCTCCTCAACC	0.532000														20			13		0	0	0.000422831	0	0
OR8H3	390152	broad.mit.edu	37	11	55890025	55890025	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:55890025C>T	uc001nii.1	+	0	177	c.177C>T	c.(175-177)ccC>ccT	p.P59P		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 3 (OR8H3), mRNA.	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TTCACACTCCCATGTATTTTT	0.413000														103			31		0	0	0.000953801	0	0
GRIA4	2893	broad.mit.edu	37	11	105850336	105850336	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:105850336G>A	uc001pix.2	+	16	3025	c.2579G>A	c.(2578-2580)aGa>aAa	p.R860K	GRIA4_uc001piw.2_3'UTR|GRIA4_uc009yxl.1_Non-coding_Transcript	NM_000829	NP_000820	P48058	GRIA4_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 4 (GRIA4), transcript variant 1, mRNA.	860					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	AACAAAGCCAGATTATCCATC	0.473000														59			40		0	0	0.000781405	0	0
MMADHC	27249	broad.mit.edu	37	2	150426675	150426676	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:150426675_150426676CC>TT	uc002txc.3	-	7	908_909	c.703_704GG>AA	c.(703-705)gga>AAa	p.G235K		NM_015702	NP_056517	Q9H3L0	MMAD_HUMAN	Homo sapiens methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria (MMADHC), nuclear gene encoding mitochondrial protein, mRNA.	235						mitochondrion				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(2)	11						TGTATATGGTCCAAAAAACTGA	0.317000														13			6		0	0	6.4e-05	0	0
SVIL	6840	broad.mit.edu	37	10	29839933	29839933	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:29839933C>T	uc001iut.1	-	5	1173	c.420G>A	c.(418-420)agG>agA	p.R140R	SVIL_uc001iuu.1_Silent_p.R140R|SVIL_uc009xld.1_Silent_p.R140R	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	140	Interaction with MYLK (By similarity).				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CAGGCTCCTTCCTGGACTTGG	0.542000														43			21		0	0	0.00152264	0	0
NCAN	1463	broad.mit.edu	37	19	19345817	19345817	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:19345817C>T	uc002nlz.3	+	9	3261	c.3162C>T	c.(3160-3162)ccC>ccT	p.P1054P	NCAN_uc010ecc.1_Silent_p.P618P	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	1054	EGF-like 2; calcium-binding (Potential).				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			TCTGCAGCCCCTGTGAGAATG	0.532000														70			40		0	0	0.000509022	0	0
RWDD4	201965	broad.mit.edu	37	4	184572437	184572437	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:184572437G>A	uc021xvb.1	-	2	375	c.149C>T	c.(148-150)tCc>tTc	p.S50F	RWDD4_uc003ivt.1_Missense_Mutation_p.S50F|RWDD4_uc011ckl.1_Intron	NM_152682	NP_689895	Q6NW29	RWDD4_HUMAN	Homo sapiens RWD domain containing 4 (RWDD4), mRNA.	50	RWD.									large_intestine(2)|lung(4)|ovary(1)|prostate(1)	8						TTCTGTCCAGGAAATCTCTAT	0.358000														79			37		0	0	0.000680045	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69343147	69343147	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:69343147G>A	uc003hdz.4	+	7	832	c.768G>A	c.(766-768)atG>atA	p.M256I		NM_014058	NP_054777	Q9UL52	TM11E_HUMAN	Homo sapiens transmembrane protease, serine 11E (TMPRSS11E), mRNA.	256	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						CTTCGAAAATGAAACGGGGTC	0.383000														77			53		0	0	0.000781405	0	0
NEIL3	55247	broad.mit.edu	37	4	178257437	178257437	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:178257437G>A	uc003iut.2	+	3	706	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K	NEIL3_uc010irs.3_Missense_Mutation_p.E100K	NM_018248	NP_060718	Q8TAT5	NEIL3_HUMAN	Homo sapiens nei endonuclease VIII-like 3 (E. coli) (NEIL3), mRNA.	197					base-excision repair|nucleotide-excision repair	nucleus	DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|bubble DNA binding|damaged DNA binding|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		CATCAAAAATGAAGCTCTCTT	0.393000								Base excision repair (BER), DNA glycosylases						59			47		0	0	0.000781405	0	0
OR2L8	391190	broad.mit.edu	37	1	248112855	248112855	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:248112855G>A	uc001idt.1	+	0	696	c.696G>A	c.(694-696)ggG>ggA	p.G232G	OR2L13_uc001ids.3_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 8 (OR2L8), mRNA.	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CTGCAGAAGGGAGGAAGAAAG	0.448000														59			22		0	0	0.000375601	0	0
CDS2	8760	broad.mit.edu	37	20	5154287	5154287	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:5154287T>G	uc002wls.3	+	1	508	c.176T>G	c.(175-177)cTt>cGt	p.L59R	CDS2_uc002wlr.2_5'UTR|CDS2_uc002wlw.3_Intron|CDS2_uc002wlv.3_5'Flank	NM_003818	NP_003809	O95674	CDS2_HUMAN	Homo sapiens CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2 (CDS2), mRNA.	59					phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphatidate cytidylyltransferase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						AATAGGGCCCTTTCCAACTTG	0.567000														101			72		0	0	0.000781405	0	0
KTN1	3895	broad.mit.edu	37	14	56133973	56133973	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:56133973G>A	uc001xcb.3	+	34	3494	c.3192G>A	c.(3190-3192)caG>caA	p.Q1064Q	KTN1_uc001xcc.3_Silent_p.Q1064Q|KTN1_uc001xcd.3_Silent_p.Q1041Q|KTN1_uc001xce.3_Silent_p.Q1035Q|KTN1_uc010trb.2_Silent_p.Q1064Q|KTN1_uc001xcf.1_Silent_p.Q1041Q|KTN1_uc010aoq.3_Silent_p.Q330Q|KTN1_uc010trc.2_Silent_p.Q69Q|KTN1_uc001xcg.3_Silent_p.Q25Q	NM_182926	NP_891556	Q86UP2	KTN1_HUMAN	Homo sapiens kinectin 1 (kinesin receptor) (KTN1), transcript variant 1, mRNA.	1064					microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction		p.Q1063E(1)		breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						GGCAGCAACAGGTGGAAGCTG	0.308000			T	RET	papillary thryoid									36			28		0	0	0.000491102	0	0
TMEM182	130827	broad.mit.edu	37	2	103431269	103431269	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:103431269G>A	uc010fjb.3	+	4	719	c.532G>A	c.(532-534)Gaa>Aaa	p.E178K	TMEM182_uc002tcc.4_Missense_Mutation_p.E135K|TMEM182_uc002tcd.4_Missense_Mutation_p.E82K|TMEM182_uc010ywe.2_Non-coding_Transcript	NM_144632	NP_653233	Q6ZP80	TM182_HUMAN	Homo sapiens transmembrane protein 182 (TMEM182), mRNA.	178						integral to membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						GGCTGACATGGAAAGCTACCG	0.463000														10			7		0	0	0.00198382	0	0
OR8S1	341568	broad.mit.edu	37	12	48919933	48919933	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:48919933C>T	uc010slu.2	+	0	519	c.519C>T	c.(517-519)atC>atT	p.I173I		NM_001005203	NP_001005203	Q8NH09	OR8S1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily S, member 1 (OR8S1), mRNA.	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						AAGCCAAAATCATTCACCACT	0.507000														51			32		0	0	0.0024448	0	0
SV2B	9899	broad.mit.edu	37	15	91795186	91795187	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:91795186_91795187GG>AA	uc002bqv.3	+	3	1480_1481	c.589_590GG>AA	c.(589-591)gga>AAa	p.G197K	SV2B_uc002bqt.3_Missense_Mutation_p.G197K|SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Missense_Mutation_p.G46K	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA.	197					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			CTTCGTGCAGGGATATGGAGCC	0.579000														123			79		0	0	6.4e-05	0	0
TRBV9	28586	broad.mit.edu	37	7	142239805	142239805	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:142239805T>A	uc011ksd.2	-	1	86	c.75A>T	c.(73-75)caA>caT	p.Q25H	TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron|TRBV9_uc022ann.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		GCTTTGGGGTTTGTGTGACTC	0.532000														17			10		0	0	0.00185496	0	0
LAMA1	284217	broad.mit.edu	37	18	6961617	6961617	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr18:6961617C>T	uc002knm.3	-	52	7688	c.7594G>A	c.(7594-7596)Gag>Aag	p.E2532K	LAMA1_uc002knl.3_5'UTR|LAMA1_uc010wzj.2_Missense_Mutation_p.E2008K	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	2532	Laminin G-like 3.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCCCGCTTCTCCACATCCCCG	0.537000														22			7		0	0	0.000157383	0	0
SORCS3	22986	broad.mit.edu	37	10	106974284	106974284	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:106974284C>T	uc001kyi.1	+	17	2687	c.2460C>T	c.(2458-2460)gcC>gcT	p.A820A	SORCS3_uc010qqz.1_Non-coding_Transcript	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	820						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CTGGAAAAGCCCCTCGGGGCC	0.567000														27			12		0	0	0.000978159	0	0
KAT6A	7994	broad.mit.edu	37	8	41792157	41792157	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr8:41792157G>A	uc010lxb.3	-	17	4125	c.3581C>T	c.(3580-3582)tCc>tTc	p.S1194F	KAT6A_uc010lxc.3_Missense_Mutation_p.S1194F|KAT6A_uc003xon.4_Missense_Mutation_p.S1194F	NM_001099412	NP_006757	Q92794	MYST3_HUMAN	Homo sapiens K(lysine) acetyltransferase 6A (KAT6A), transcript variant 1, mRNA.	1194					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										TTTAGGAATGGAAACGATGGG	0.483000														87			47		0	0	0.000781405	0	0
TLR3	7098	broad.mit.edu	37	4	187005261	187005261	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:187005261C>T	uc003iyq.3	+	3	2522	c.2421C>T	c.(2419-2421)atC>atT	p.I807I	TLR3_uc011ckz.2_Silent_p.I530I|TLR3_uc003iyr.3_Silent_p.I530I	NM_003265	NP_003256	O15455	TLR3_HUMAN	Homo sapiens toll-like receptor 3 (TLR3), mRNA.	807	TIR.				I-kappaB phosphorylation|MyD88-independent toll-like receptor signaling pathway|activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|inflammatory response|innate immune response|negative regulation of osteoclast differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity	p.S806G(1)		breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TTAACAGCATCAAAAGAAGCA	0.333000														61			28		0	0	0.000878237	0	0
ZNF2	7549	broad.mit.edu	37	2	95847396	95847396	+	Silent	SNP	C	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:95847396C>A	uc002suf.3	+	4	1285	c.823C>A	c.(823-825)Cga>Aga	p.R275R	ZNF2_uc002sug.3_Silent_p.R233R|ZNF2_uc010yue.2_Silent_p.R237R|ZNF2_uc010fhs.3_Silent_p.R195R	NM_021088	NP_066574	Q9BSG1	ZNF2_HUMAN	Homo sapiens zinc finger protein 2 (ZNF2), transcript variant 1, mRNA.	274					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R275Q(1)		endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		ATCCCTTACTCGACACCAGAG	0.458000														76			5		0.00116845	0.00528496	0.00116845	1	0
THBD	7056	broad.mit.edu	37	20	23028577	23028577	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:23028577G>A	uc002wss.3	-	0	1725	c.1565C>T	c.(1564-1566)tCc>tTc	p.S522F	THBD_uc002wst.1_Non-coding_Transcript	NM_000361	NP_000352	P07204	TRBM_HUMAN	Homo sapiens thrombomodulin (THBD), mRNA.	522					blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation	cell surface|integral to plasma membrane	calcium ion binding|protein binding|transmembrane receptor activity			endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)	GCTCGCGATGGAGATGCCTAT	0.692000														8			4		0	0	0.00116845	0	0
MRE11A	4361	broad.mit.edu	37	11	94204767	94204767	+	Missense_Mutation	SNP	G	A	A	rs143400546	byFrequency	TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:94204767G>A	uc009ywj.2	-	7	1147	c.827C>T	c.(826-828)tCt>tTt	p.S276F	MRE11A_uc001peu.2_Missense_Mutation_p.S273F|MRE11A_uc001pev.2_Missense_Mutation_p.S273F			P49959	MRE11_HUMAN	Homo sapiens MRE11 meiotic recombination 11 homolog A (S. cerevisiae) (MRE11A), transcript variant 1, mRNA.	273					DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				TGGGGAAAGAGAAGTAACCAC	0.358000								Homologous recombination	Ataxia-Telangiectasia-Like Disorder					27			20		0	0	0.00188189	0	0
FILIP1L	11259	broad.mit.edu	37	3	99568538	99568538	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:99568538C>T	uc003dtm.3	-	4	2445	c.1982G>A	c.(1981-1983)cGa>cAa	p.R661Q	MIR548G_uc021xbq.1_Intron|C3orf26_uc003dtk.2_Intron|C3orf26_uc003dtl.3_Intron|FILIP1L_uc003dto.3_Missense_Mutation_p.R661Q|FILIP1L_uc010hpf.3_Missense_Mutation_p.R237Q|FILIP1L_uc010hpg.3_Missense_Mutation_p.R421Q|FILIP1L_uc003dtn.3_Missense_Mutation_p.R421Q|FILIP1L_uc021xbr.1_Missense_Mutation_p.R421Q|FILIP1L_uc003dtp.1_Missense_Mutation_p.R421Q	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	Homo sapiens filamin A interacting protein 1-like (FILIP1L), transcript variant 1, mRNA.	661						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						AGCATACCTTCGTTCTAGAGT	0.373000														90			40		0	0	0.00222228	0	0
MTUS2	23281	broad.mit.edu	37	13	30062078	30062078	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr13:30062078G>A	uc001usl.4	+	8	3529	c.3471G>A	c.(3469-3471)gaG>gaA	p.E1157E	MTUS2_uc001usm.4_Silent_p.E126E|MTUS2_uc010aau.3_Silent_p.E36E|BC027486_uc001usn.3_5'Flank	NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	1147						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CTCTCCTAGAGATGGAAAATA	0.542000														45			27		0	0	0.00058488	0	0
SRSF3	6428	broad.mit.edu	37	6	36569554	36569554	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:36569554C>T	uc003omj.3	+	4	621	c.450C>T	c.(448-450)tcC>tcT	p.S150S	SRSF3_uc003omk.3_Non-coding_Transcript	NM_003017	NP_003008	P84103	SRSF3_HUMAN	Homo sapiens serine/arginine-rich splicing factor 3 (SRSF3), transcript variant 1, mRNA.	150	2 X approximate repeats, basic.|Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	RNA binding|nucleotide binding|protein binding	p.R149R(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(2)	7						CGTCCCGATCCTTCTCTAGGT	0.403000														71			63		0	0	0.000781405	0	0
DNAH10	196385	broad.mit.edu	37	12	124265689	124265689	+	Silent	SNP	T	G	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:124265689T>G	uc001uft.4	+	5	526	c.501T>G	c.(499-501)tcT>tcG	p.S167S		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	167	Stem (By similarity).		S -> P (in dbSNP:rs11057353).		microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GAGTCACATCTGGAGAAGTCT	0.428000														90			44		0	0	0.000509022	0	0
NLRP13	126204	broad.mit.edu	37	19	56423734	56423734	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:56423734G>A	uc010ygg.2	-	4	1474	c.1449C>T	c.(1447-1449)ctC>ctT	p.L483L		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	483	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CCAGACTGCAGAGGGCCCTCC	0.488000														34			26		0	0	0.000720815	0	0
TDRD6	221400	broad.mit.edu	37	6	46659356	46659356	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:46659356G>A	uc003oyj.3	+	0	3745	c.3491G>A	c.(3490-3492)aGa>aAa	p.R1164K	TDRD6_uc010jze.3_Missense_Mutation_p.R1164K	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA.	1164					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TACAAAGATAGAATAAGAAAA	0.303000														36			28		0	0	0.00209593	0	0
AGPAT4	56895	broad.mit.edu	37	6	161587366	161587366	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:161587366C>T	uc003qtr.1	-	2	489	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K	AGPAT4_uc003qts.1_Intron|AGPAT4_uc011egb.1_Intron|AGPAT4_uc003qtt.1_Non-coding_Transcript|AGPAT4_uc011egc.1_Missense_Mutation_p.E88K|AGPAT4_uc011egd.1_Missense_Mutation_p.E26K|AGPAT4_uc011ege.1_Intron	NM_020133	NP_064518	Q9NRZ5	PLCD_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta) (AGPAT4), mRNA.	88					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding			endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		ATGGCATTTTCCTTCCCATAC	0.537000														9			20		0	0	0.00152264	0	0
SEC24C	9632	broad.mit.edu	37	10	75530142	75530142	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:75530142C>T	uc001juw.3	+	21	3147	c.2967C>T	c.(2965-2967)ctC>ctT	p.L989L	SEC24C_uc001jux.3_Silent_p.L989L|SEC24C_uc010qko.2_Silent_p.L870L|SEC24C_uc010qkp.2_Silent_p.L237L|SEC24C_uc010qkq.2_Silent_p.L237L|FUT11_uc001juy.1_5'Flank|FUT11_uc001juz.1_5'Flank|FUT11_uc001jva.3_5'Flank	NM_004922	NP_940999	P53992	SC24C_HUMAN	Homo sapiens SEC24 family, member C (S. cerevisiae) (SEC24C), transcript variant 1, mRNA.	989					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					GGCTCAACCTCTTCCTCTGGG	0.532000														189			109		0	0	0.000781405	0	0
MECOM	2122	broad.mit.edu	37	3	168806893	168806893	+	Silent	SNP	C	T	T	rs66665001		TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:168806893C>T	uc011bpj.1	-	15	3883	c.3480G>A	c.(3478-3480)agG>agA	p.R1160R	MECOM_uc010hwk.1_Silent_p.R986R|MECOM_uc003ffj.3_Silent_p.R1037R|MECOM_uc003ffi.3_Silent_p.R972R|MECOM_uc011bpi.1_Silent_p.R964R|MECOM_uc003ffn.3_Silent_p.R972R|MECOM_uc003ffk.2_Silent_p.R963R|MECOM_uc003ffl.2_Silent_p.R1123R|MECOM_uc011bpk.1_Silent_p.R972R	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CTTCCATTTTCCTCATTTTGA	0.373000														28			17		0	0	0.00152264	0	0
OR51A2	401667	broad.mit.edu	37	11	4976492	4976492	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:4976492G>A	uc010qyt.2	-	0	452	c.452C>T	c.(451-453)tCc>tTc	p.S151F		NM_001004748	NP_001004748	Q8NGJ7	O51A2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 2 (OR51A2), mRNA.	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F150F(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCTCTTAAAGGAGAATACTAT	0.423000														24			66		0	0	0.000781405	0	0
MRPL45P2	653479	broad.mit.edu	37	17	45567659	45567659	+	RNA	SNP	C	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:45567659C>A	uc002ilp.2	-	2		c.408G>T			MRPL45P2_uc002ilq.3_Non-coding_Transcript					Homo sapiens mitochondrial ribosomal protein L45 pseudogene 2 (MRPL45P2), non-coding RNA.																		TCAAATATACCAGCTGTAATA	0.343000														53			5		0.000602214	0.00273746	0.000602214	1	0
ANKRD20A2	441430	broad.mit.edu	37	2	95464643	95464643	+	RNA	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:95464643C>T	uc010fhp.3	-	16		c.2747G>A						Q5SQ80	A20A2_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A8, pseudogene (ANKRD20A8P), non-coding RNA.											large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						TCAAGTTTTTCATTCCTGTTG	0.299000														15			12		0	0	0.00136819	0	0
SEC16B	89866	broad.mit.edu	37	1	177911075	177911075	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:177911075C>T	uc001glj.1	-	20	2851	c.1985G>A	c.(1984-1986)gGa>gAa	p.G662E	SEC16B_uc001glk.1_Missense_Mutation_p.G338E|SEC16B_uc009wwy.1_Missense_Mutation_p.G216E|SEC16B_uc001glh.1_Missense_Mutation_p.G320E|SEC16B_uc001gli.1_Missense_Mutation_p.G661E|SEC16B_uc009wwz.1_Missense_Mutation_p.G320E	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN	Homo sapiens SEC16 homolog B (S. cerevisiae) (SEC16B), mRNA.	661					protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						ACTGCTCTCTCCCTGGCTCAA	0.493000														86			24		0	0	0.000586117	0	0
SSBP4	170463	broad.mit.edu	37	19	18542815	18542816	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:18542815_18542816CC>TT	uc002niy.3	+	8	884_885	c.571_572CC>TT	c.(571-573)ccg>TTg	p.P191L	SSBP4_uc010ebp.3_Nonsense_Mutation_p.R168*|SSBP4_uc002niz.3_Missense_Mutation_p.P169L	NM_032627	NP_116016	Q9BWG4	SSBP4_HUMAN	Homo sapiens single stranded DNA binding protein 4 (SSBP4), transcript variant 1, mRNA.	191	Pro-rich.					nucleus	single-stranded DNA binding			endometrium(2)|kidney(1)|skin(1)	4						CCCAGGGCATCCGAGCATGGGC	0.668000														14			9		0	0	6.4e-05	0	0
PSG4	5672	broad.mit.edu	37	19	43699348	43699348	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:43699348C>T	uc002ovy.3	-	3	889	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K	PSG4_uc010xwk.1_Intron|PSG4_uc002ovz.3_Intron|PSG4_uc002owb.3_Missense_Mutation_p.E170K	NM_002780	NP_002771	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA.	263	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				CTCTTAGGTTCACAGGTGAAG	0.453000														131			62		0	0	0.000781405	0	0
DPY19L1	23333	broad.mit.edu	37	7	35013200	35013200	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:35013200C>T	uc003tem.4	-	7	766	c.621G>A	c.(619-621)tgG>tgA	p.W207*		NM_015283	NP_056098	Q2PZI1	D19L1_HUMAN	Homo sapiens dpy-19-like 1 (C. elegans) (DPY19L1), mRNA.	207						integral to membrane				endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						GAGGTGGTGTCCACATTACAC	0.313000														14			10		0	0	0.00185496	0	0
abParts	0	broad.mit.edu	37	2	89513355	89513355	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:89513355G>A	uc021vkt.1	-	26		c.2726_splice	c.e26-1		abParts_uc021vku.1_Intron					Parts of antibodies, mostly variable regions.																		AGGAGTCCCAGGAGCTGAGCA	0.507000														29			18		0	0	0.00152264	0	0
TRO	7216	broad.mit.edu	37	X	54955515	54955515	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:54955515C>T	uc004dtq.3	+	11	2465	c.2358C>T	c.(2356-2358)agC>agT	p.S786S	TRO_uc004dts.3_Intron|TRO_uc004dtr.3_Intron|TRO_uc004dtt.3_Intron|TRO_uc004dtu.3_Intron|TRO_uc004dtv.3_Intron|TRO_uc011mok.2_Silent_p.S317S|TRO_uc004dtw.3_Silent_p.S389S|TRO_uc004dtx.3_Silent_p.S169S	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	Homo sapiens trophinin (TRO), transcript variant 6, mRNA.	786	62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						CTAGCTCCAGCTTCAGCAGCG	0.532000														9			27		0	0	0.00106085	0	0
PTPN5	84867	broad.mit.edu	37	11	18765740	18765740	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:18765740G>A	uc001mpd.3	-	3	535	c.104C>T	c.(103-105)cCc>cTc	p.P35L	PTPN5_uc001mpb.3_Missense_Mutation_p.P35L|PTPN5_uc001mpc.3_Missense_Mutation_p.P35L|PTPN5_uc010rdj.2_Missense_Mutation_p.P11L|PTPN5_uc001mpf.3_Missense_Mutation_p.P11L|PTPN5_uc001mpe.3_Missense_Mutation_p.P35L|PTPN5_uc010rdk.2_Intron	NM_006906	NP_116170	P54829	PTN5_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched) (PTPN5), transcript variant 1, mRNA.	35						integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						TATCGGCTGGGGGAGACCTGT	0.657000														59			28		0	0	0.00106085	0	0
DNAH5	1767	broad.mit.edu	37	5	13793641	13793641	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:13793641G>A	uc003jfd.2	-	48	8249	c.8207C>T	c.(8206-8208)tCt>tTt	p.S2736F		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2736	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTTGTCCACAGAAGCTTCAGA	0.483000									Kartagener syndrome					34			28		0	0	0.00209593	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560939	44560939	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr18:44560939C>T	uc002lcr.1	-	0	1050	c.697G>A	c.(697-699)Gaa>Aaa	p.E233K	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.	233					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGGCGTTTTTCCTGGCGAGAC	0.617000														10			8		0	0	0.000157383	0	0
PPP2R2C	5522	broad.mit.edu	37	4	6377625	6377625	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:6377625C>T	uc003gja.3	-	3	392	c.368G>A	c.(367-369)cGa>cAa	p.R123Q	PPP2R2C_uc003gjb.3_Missense_Mutation_p.R106Q|PPP2R2C_uc003gjc.3_Missense_Mutation_p.R123Q|PPP2R2C_uc011bwd.2_Missense_Mutation_p.R116Q|PPP2R2C_uc011bwe.2_Missense_Mutation_p.R116Q|PPP2R2C_uc003gjd.1_Missense_Mutation_p.R211Q	NM_181876	NP_870991	Q9Y2T4	2ABG_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B, gamma (PPP2R2C), transcript variant 2, mRNA.	123					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						CCTTTTATCTCGTTCGGTAAT	0.443000														61			49		0	0	0.000781405	0	0
DCC	1630	broad.mit.edu	37	18	50866115	50866115	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr18:50866115C>T	uc002lfe.2	+	14	2813	c.2197C>T	c.(2197-2199)Cat>Tat	p.H733Y	DCC_uc010xdr.1_Missense_Mutation_p.H581Y|DCC_uc010dpf.2_Missense_Mutation_p.H388Y	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	733	Fibronectin type-III 4.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AAGCTCTCTTCATGTGAGGCC	0.458000														27			21		0	0	0.00047179	0	0
DSP	1832	broad.mit.edu	37	6	7580074	7580074	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:7580074G>A	uc003mxp.1	+	22	3930	c.3651G>A	c.(3649-3651)acG>acA	p.T1217T	DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Silent_p.T1217T	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1217	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TTAACATTACGAAGACCACCA	0.368000														33			21		0	0	0.00229938	0	0
DOPEY2	9980	broad.mit.edu	37	21	37665782	37665783	+	Missense_Mutation	DNP	GG	AA	AA	rs139219621	byFrequency	TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr21:37665782_37665783GG>AA	uc002yvg.3	+	36	6889_6890	c.6810_6811GG>AA	c.(6808-6813)ttggac>ttAAac	p.D2271N	DOPEY2_uc011aeb.2_Missense_Mutation_p.D2220N	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	Homo sapiens dopey family member 2 (DOPEY2), mRNA.	2271					Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CTCCATTCTTGGACTTTCCTGT	0.436000														61			25		0	0	6.4e-05	0	0
SYT15	83849	broad.mit.edu	37	10	46967612	46967612	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:46967612C>T	uc001jea.3	-	3	618	c.465G>A	c.(463-465)gtG>gtA	p.V155V	SYT15_uc001jdz.2_Silent_p.V155V|SYT15_uc001jeb.3_Silent_p.V33V|SYT15_uc010qfp.1_Non-coding_Transcript	NM_031912	NP_114118	Q9BQS2	SYT15_HUMAN	Homo sapiens synaptotagmin XV (SYT15), transcript variant a, mRNA.	155	C2 1.					integral to membrane|plasma membrane		p.P155S(1)		cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						GCTCATATTCCACCGAGAACC	0.627000														43			11		0	0	0.000673444	0	0
DENND1A	57706	broad.mit.edu	37	9	126520093	126520093	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:126520093A>G	uc011lzm.1	-	2	309	c.95T>C	c.(94-96)gTt>gCt	p.V32A	DENND1A_uc004bny.1_5'UTR|DENND1A_uc004bnz.1_Missense_Mutation_p.V64A|DENND1A_uc004boa.1_Missense_Mutation_p.V64A|DENND1A_uc004bob.1_Missense_Mutation_p.V34A|DENND1A_uc004boc.3_Missense_Mutation_p.V32A	NM_020946	NP_065997	Q8TEH3	DEN1A_HUMAN	Homo sapiens DENN/MADD domain containing 1A (DENND1A), transcript variant 1, mRNA.	64	UDENN.					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						AACTTGGCTAACTGTGAGGCT	0.438000														25			6		0	0	0.000274275	0	0
NAB2	4665	broad.mit.edu	37	12	57485290	57485290	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:57485290C>A	uc001smz.3	+	1	844	c.466C>A	c.(466-468)Cgc>Agc	p.R156S		NM_005967	NP_005958	Q15742	NAB2_HUMAN	Homo sapiens NGFI-A binding protein 2 (EGR1 binding protein 2) (NAB2), mRNA.	156					cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity	p.R156R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						AGGCAGTGCCCGCAGTTTTAG	0.632000														40			6		0.00198382	0.00892858	0.00198382	1	0
CYP4F12	66002	broad.mit.edu	37	19	15807031	15807031	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:15807031C>T	uc002nbl.3	+	10	1429	c.1310C>T	c.(1309-1311)cCt>cTt	p.P437L		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)					TGGCCGGATCCTGAGGTGCTG	0.547000														31			23		0	0	0.000720815	0	0
KCNH7	90134	broad.mit.edu	37	2	163236418	163236418	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:163236418G>A	uc002uch.2	-	13	3305	c.3076C>T	c.(3076-3078)Ctc>Ttc	p.L1026F		NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	1026					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	p.D1025H(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	CCGTAGGTGAGGTCGCTTTCG	0.512000														50			30		0	0	0.0024448	0	0
CDH23	64072	broad.mit.edu	37	10	73551085	73551085	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:73551085C>T	uc001jrx.4	+	44	6627	c.6237C>T	c.(6235-6237)tgC>tgT	p.C2079C		NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	2082	Cadherin 20.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TAGAGAACTGCCCGCCTGGTA	0.622000														4			10		0	0	0.000978159	0	0
UBTF	7343	broad.mit.edu	37	17	42288974	42288974	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:42288974C>T	uc010czs.3	-	10	1343	c.1047_splice	c.e10+1	p.Q349_splice	UBTF_uc002igc.3_Splice_Site_p.Q312_splice|UBTF_uc002igd.3_Splice_Site_p.Q312_splice|UBTF_uc010czt.3_Splice_Site_p.Q349_splice|UBTF_uc002ige.2_Splice_Site_p.Q312_splice	NM_014233	NP_055048	P17480	UBF1_HUMAN	Homo sapiens upstream binding transcription factor, RNA polymerase I (UBTF), transcript variant 1, mRNA.	349					positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CACAGCTCACCTGATCACACT	0.597000														135			55		0	0	0.000781405	0	0
EPHA7	2045	broad.mit.edu	37	6	93968003	93968003	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:93968003C>T	uc003poe.3	-	11	2166	c.1925_splice	c.e11-1	p.G642_splice	EPHA7_uc003pof.3_Splice_Site_p.G637_splice|EPHA7_uc011eac.2_Splice_Site_p.G638_splice	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	642	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CCGAATTCTCCTGAAGTAACA	0.333000														21			34		0	0	0.00195071	0	0
BAZ2A	11176	broad.mit.edu	37	12	56998871	56998871	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:56998871G>C	uc001slq.1	-	13	2934	c.2740C>G	c.(2740-2742)Ccc>Gcc	p.P914A	BAZ2A_uc001slp.1_Missense_Mutation_p.P912A|BAZ2A_uc001slo.1_5'Flank|BAZ2A_uc009zov.1_5'Flank|BAZ2A_uc009zow.1_Missense_Mutation_p.P882A	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2A (BAZ2A), mRNA.	914					DNA methylation|chromatin silencing at rDNA|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|RNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						CAGTAGGAGGGAAAGCCAGGA	0.502000														33			12		0	0	0.000978159	0	0
RSRC1	51319	broad.mit.edu	37	3	158261214	158261214	+	Missense_Mutation	SNP	G	A	A	rs144776555		TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:158261214G>A	uc003fbt.3	+	8	961	c.850G>A	c.(850-852)Gat>Aat	p.D284N	RSRC1_uc003fbv.3_Missense_Mutation_p.D226N	NM_016625	NP_057709	Q96IZ7	RSRC1_HUMAN	Homo sapiens arginine/serine-rich coiled-coil 1 (RSRC1), mRNA.	284					nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding	p.D284N(2)		cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			AAAAGAAATAGATCCTACCAG	0.418000														32			32		0	0	0.0024448	0	0
FOLR4	390243	broad.mit.edu	37	11	94040783	94040783	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:94040783C>T	uc021qou.1	+	3	678	c.678C>T	c.(676-678)ttC>ttT	p.F226F		NM_001199206	NP_001186135	A6ND01	FOLR4_HUMAN	Homo sapiens folate receptor 4 (delta) homolog (mouse) (FOLR4), mRNA.	226						extracellular region	folic acid binding|receptor activity	p.F220fs*>22(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						CCCGCCTCTTCGCCAGCTCTG	0.602000														105			72		0	0	0.000781405	0	0
DYTN	391475	broad.mit.edu	37	2	207530603	207530603	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:207530603C>T	uc002vbr.1	-	9	1248	c.1131G>A	c.(1129-1131)cgG>cgA	p.R377R		NM_001093730	NP_001087199	A2CJ06	DYTN_HUMAN	Homo sapiens dystrotelin (DYTN), mRNA.	377						plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		CCTGTAGGTCCCGTCTTATCT	0.463000														30			9		0	0	0.000673444	0	0
MFSD2A	84879	broad.mit.edu	37	1	40434365	40434365	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:40434365C>T	uc001cev.3	+	12	1697	c.1516C>T	c.(1516-1518)Ccc>Tcc	p.P506S	MFSD2A_uc010ojb.1_Missense_Mutation_p.P454S|MFSD2A_uc001ceu.3_Missense_Mutation_p.P493S|MFSD2A_uc010ojc.2_Missense_Mutation_p.P337S|MFSD2A_uc009vvy.3_Non-coding_Transcript	NM_001136493	NP_001129965	Q8NA29	MFS2A_HUMAN	Homo sapiens major facilitator superfamily domain containing 2A (MFSD2A), transcript variant 1, mRNA.	506					transmembrane transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CAAAATGTACCCCATTGATGA	0.577000														44			36		0	0	0.00148497	0	0
MCM3AP	8888	broad.mit.edu	37	21	47656757	47656757	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr21:47656757T>C	uc002zir.1	-	26	5806	c.5770A>G	c.(5770-5772)Act>Gct	p.T1924A	MCM3AP-AS1_uc002zim.2_Intron|MCM3AP-AS1_uc002zin.2_Intron|MCM3AP_uc002zio.1_Missense_Mutation_p.T419A|MCM3AP_uc002zip.1_Missense_Mutation_p.T665A|MCM3AP_uc002ziq.1_Missense_Mutation_p.T851A|MCM3AP-AS1_uc002zis.1_Intron	NM_003906	NP_003897	O60318	MCM3A_HUMAN	Homo sapiens minichromosome maintenance complex component 3 associated protein (MCM3AP), mRNA.	1924					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					GGGCTAGTAGTTACAGATGTT	0.388000														72			67		0	0	0.000781405	0	0
DDX10	1662	broad.mit.edu	37	11	108549097	108549097	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:108549097C>T	uc001pkm.3	+	4	658	c.593C>T	c.(592-594)cCa>cTa	p.P198L	DDX10_uc001pkl.1_Missense_Mutation_p.P198L	NM_004398	NP_004389	Q13206	DDX10_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 (DDX10), mRNA.	198	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		GTGTGCACACCAGGTCGGCTT	0.353000			T	NUP98	AML*									39			19		0	0	0.00188189	0	0
OR2AK2	391191	broad.mit.edu	37	1	248129595	248129595	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:248129595G>A	uc010pzd.2	+	0	962	c.962G>A	c.(961-963)gGa>gAa	p.G321E	OR2L13_uc001ids.3_Intron	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AK, member 2 (OR2AK2), mRNA.	321					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L320L(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			AGACTGTTGGGATATTGGATA	0.398000														56			20		0	0	0.000375601	0	0
C9orf174	100499483	broad.mit.edu	37	9	100139087	100139087	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:100139087G>A	uc011lut.2	+	50	6440	c.5434G>A	c.(5434-5436)Gat>Aat	p.D1812N	C9orf174_uc004axe.2_Missense_Mutation_p.D1618N|C9orf174_uc011lus.2_Missense_Mutation_p.D1399N|C9orf174_uc004axg.2_Missense_Mutation_p.D1673N|C9orf174_uc004axh.2_Non-coding_Transcript	NM_020893	NP_065944	Q9P1Z9	CI174_HUMAN	Homo sapiens chromosome 9 open reading frame 174 (C9orf174), mRNA.	1618						integral to membrane				breast(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(1)	16						GAGGATCCAGGATGACTGTAC	0.532000														44			26		0	0	0.000878237	0	0
SH2D4B	387694	broad.mit.edu	37	10	82331326	82331326	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:82331326G>A	uc001kck.1	+	2	917	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K	SH2D4B_uc001kcl.1_Missense_Mutation_p.E114K	NM_207372	NP_997255	Q5SQS7	SH24B_HUMAN	Homo sapiens SH2 domain containing 4B (SH2D4B), transcript variant 1, mRNA.	162	Glu-rich.									endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			CATCCACGAGGAATTCAAGGT	0.592000														37			28		0	0	0.000814825	0	0
PADI4	23569	broad.mit.edu	37	1	17690064	17690064	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:17690064C>T	uc001baj.2	+	15	1834	c.1806C>T	c.(1804-1806)ttC>ttT	p.F602F		NM_012387	NP_036519	Q9UM07	PADI4_HUMAN	Homo sapiens peptidyl arginine deiminase, type IV (PADI4), mRNA.	602					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	CCAAGCCCTTCGGGCCCGTCA	0.632000														11			7		0	0	0.000274275	0	0
LPIN3	64900	broad.mit.edu	37	20	39977295	39977295	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:39977295C>T	uc010ggh.3	+	3	416	c.325C>T	c.(325-327)Cct>Tct	p.P109S	LPIN3_uc002xjx.3_Missense_Mutation_p.P109S|LPIN3_uc010zwf.2_Non-coding_Transcript	NM_022896	NP_075047	Q9BQK8	LPIN3_HUMAN	Homo sapiens lipin 3 (LPIN3), mRNA.	109					fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				CTCACCCATCCCTTGGGGGGG	0.667000														26			35		0	0	0.00128727	0	0
TMPRSS11D	9407	broad.mit.edu	37	4	68725321	68725321	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:68725321C>T	uc003hdq.3	-	1	149	c.84G>A	c.(82-84)gtG>gtA	p.V28V	LOC550112_uc003hdl.4_Intron|TMPRSS11D_uc011caj.2_Intron	NM_004262	NP_004253	O60235	TM11D_HUMAN	Homo sapiens transmembrane protease, serine 11D (TMPRSS11D), mRNA.	28					proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						CTGCCAGGATCACTACCCCTG	0.383000														16			18		0	0	0.000958276	0	0
ADAM32	203102	broad.mit.edu	37	8	39080726	39080726	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr8:39080726C>T	uc003xmt.4	+	13	1739	c.1494C>T	c.(1492-1494)ctC>ctT	p.L498L	ADAM32_uc011lch.2_Silent_p.L399L|ADAM32_uc003xmu.4_Silent_p.L392L|ADAM32_uc003xmv.3_Missense_Mutation_p.S20L	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	Homo sapiens ADAM metallopeptidase domain 32 (ADAM32), mRNA.	498	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			GCCATGATCTCGATGCACGTT	0.353000														9			10		0	0	0.000978159	0	0
KIF18A	81930	broad.mit.edu	37	11	28113042	28113042	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:28113042G>A	uc001msc.2	-	3	684	c.502C>T	c.(502-504)Cgt>Tgt	p.R168C		NM_031217	NP_112494	Q8NI77	KI18A_HUMAN	Homo sapiens kinesin family member 18A (KIF18A), mRNA.	168	Kinesin-motor.				blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	ATP binding|actin binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						AAGAGATCACGAATCTGTTCA	0.348000														48			40		0	0	0.00195071	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307342	39307342	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:39307342G>A	uc021wwc.1	-	1	795	c.755C>T	c.(754-756)tCc>tTc	p.S252F	CX3CR1_uc021wwa.1_Missense_Mutation_p.S220F|CX3CR1_uc021wwb.1_Missense_Mutation_p.S220F|CX3CR1_uc003cjl.3_Missense_Mutation_p.S220F|CX3CR1_uc021wwd.1_Missense_Mutation_p.S220F	NM_001171174	NP_001164645	P49238	CX3C1_HUMAN	Homo sapiens chemokine (C-X3-C motif) receptor 1 (CX3CR1), transcript variant 1, mRNA.	220					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		GTTCTTGCAGGAAAACAGCGT	0.453000														74			39		0	0	0.000680045	0	0
KIAA1210	57481	broad.mit.edu	37	X	118223315	118223315	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:118223315G>A	uc004era.4	-	10	1878	c.1878C>T	c.(1876-1878)ttC>ttT	p.F626F		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	626										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TTCTGGATCCGAAATCTATGC	0.468000														5			19		0	0	0.00229938	0	0
PTPRT	11122	broad.mit.edu	37	20	41419904	41419904	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:41419904G>A	uc002xkg.3	-	2	601	c.417C>T	c.(415-417)tcC>tcT	p.S139S	PTPRT_uc010ggj.3_Silent_p.S139S	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	139	MAM.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGACGACCCCGGACACATTCC	0.532000														94			35		0	0	0.000953801	0	0
MAGED1	9500	broad.mit.edu	37	X	51641714	51641714	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:51641714C>T	uc004dpn.3	+	10	2177	c.1987C>T	c.(1987-1989)Ctc>Ttc	p.L663F	MAGED1_uc004dpm.3_Missense_Mutation_p.L607F|MAGED1_uc004dpo.3_Missense_Mutation_p.L607F	NM_001005333	NP_001005333	Q9Y5V3	MAGD1_HUMAN	Homo sapiens melanoma antigen family D, 1 (MAGED1), transcript variant 1, mRNA.	607	MAGE.				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					AAGGAAACTTCTCACCTATGA	0.453000										Multiple Myeloma(10;0.10)				3			13		0	0	0.000422831	0	0
TMEM225	338661	broad.mit.edu	37	11	123756080	123756080	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:123756080G>A	uc001pzi.3	-	0	261	c.53C>T	c.(52-54)tCc>tTc	p.S18F		NM_001013743	NP_001013765	Q6GV28	TM225_HUMAN	Homo sapiens transmembrane protein 225 (TMEM225), mRNA.	18						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						TACGGCCCAGGAGGAGAAAAG	0.408000														4			11		0	0	0.000978159	0	0
FAM131B	9715	broad.mit.edu	37	7	143054034	143054034	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:143054034G>A	uc010lpa.3	-	6	836	c.692C>T	c.(691-693)gCc>gTc	p.A231V	FAM131B_uc010loz.3_Missense_Mutation_p.A171V|FAM131B_uc003wct.3_Missense_Mutation_p.A203V|FAM131B_uc003wcu.4_Missense_Mutation_p.A203V	NM_001031690	NP_055505	Q86XD5	F131B_HUMAN	Homo sapiens family with sequence similarity 131, member B (FAM131B), transcript variant a, mRNA.	203										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					GGCTTCCCAGGCATCTGACGA	0.542000														25			13		0	0	0.00136819	0	0
ZNF555	148254	broad.mit.edu	37	19	2853499	2853499	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:2853499C>T	uc002lwo.3	+	3	1574	c.1436C>T	c.(1435-1437)tCc>tTc	p.S479F	ZNF555_uc002lwn.4_Missense_Mutation_p.S478F	NM_152791	NP_690004	Q8NEP9	ZN555_HUMAN	Homo sapiens zinc finger protein 555 (ZNF555), transcript variant 1, mRNA.	479					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAAGACAAATCCTATGAATGC	0.413000														43			25		0	0	0.000586117	0	0
GPR75	10936	broad.mit.edu	37	2	54080959	54080959	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:54080959G>A	uc021vhn.1	-	0	935	c.935C>T	c.(934-936)tCc>tTc	p.S312F	GPR75-ASB3_uc002rxi.4_Intron|GPR75_uc002rxo.3_Missense_Mutation_p.S312F	NM_006794	NP_006785	O95800	GPR75_HUMAN	Homo sapiens G protein-coupled receptor 75 (GPR75), mRNA.	312						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CTTGGCAGTGGAGAGGTTGAT	0.542000														25			18		0	0	0.00074312	0	0
CCDC3	83643	broad.mit.edu	37	10	12940443	12940443	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:12940443G>A	uc001ilq.1	-	2	920	c.786C>T	c.(784-786)ccC>ccT	p.P262P	CCDC3_uc009xjb.1_Non-coding_Transcript|CCDC3_uc001ilr.2_Non-coding_Transcript|CCDC3_uc009xjc.1_Non-coding_Transcript|CCDC3_uc021pna.1_Non-coding_Transcript	NM_031455	NP_113643	Q9BQI4	CCDC3_HUMAN	Homo sapiens coiled-coil domain containing 3 (CCDC3), mRNA.	262						endoplasmic reticulum|extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	11		Ovarian(717;0.0822)	BRCA - Breast invasive adenocarcinoma(52;0.163)			GGGGGCGCACGGGCCCCCGGG	0.667000														23			23		0	0	0.00047179	0	0
FAM135B	51059	broad.mit.edu	37	8	139165277	139165277	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr8:139165277C>T	uc003yuy.3	-	12	1612	c.1441G>A	c.(1441-1443)Gag>Aag	p.E481K	FAM135B_uc003yux.3_Missense_Mutation_p.E382K|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.E43K|FAM135B_uc003yvb.3_Missense_Mutation_p.E43K	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	481								p.E481*(3)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TCACCTGGCTCTGGACACCTT	0.393000										HNSCC(54;0.14)				36			23		0	0	0.001512	0	0
CYP2R1	120227	broad.mit.edu	37	11	14913746	14913747	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:14913746_14913747CC>TT	uc001mlr.3	-	0	5_6	c.5_6GG>AA	c.(4-6)tgg>tAA	p.W2*	CYP2R1_uc001mlp.3_5'Flank|CYP2R1_uc001mlq.3_5'Flank	NM_024514	NP_078790	Q6VVX0	CP2R1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily R, polypeptide 1 (CYP2R1), mRNA.	2					hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14					Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	TCCAAAGCTTCCACATCGGCCC	0.673000														16			6		0	0	6.4e-05	0	0
EPHA2	1969	broad.mit.edu	37	1	16458928	16458928	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:16458928G>A	uc001aya.2	-	11	2215	c.2060C>T	c.(2059-2061)cCc>cTc	p.P687L		NM_004431	NP_004422	P29317	EPHA2_HUMAN	Homo sapiens EPH receptor A2 (EPHA2), mRNA.	687	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	GATCATCATGGGCTTGTCTGT	0.592000														41			22		0	0	0.000375601	0	0
LLGL2	3993	broad.mit.edu	37	17	73567141	73567141	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:73567141C>T	uc002joh.3	+	16	2290	c.2136C>T	c.(2134-2136)ttC>ttT	p.F712F	LLGL2_uc002joi.3_Silent_p.F712F|LLGL2_uc010dgg.2_Silent_p.F712F|LLGL2_uc002joj.3_Silent_p.F701F|LLGL2_uc010wsd.2_Silent_p.F339F	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	Homo sapiens lethal giant larvae homolog 2 (Drosophila) (LLGL2), transcript variant 3, mRNA.	712					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			TCACAGGCTTCGTCCGGACCC	0.652000														132			48		0	0	0.000781405	0	0
SREBF2	6721	broad.mit.edu	37	22	42263286	42263286	+	Splice_Site	SNP	T	C	C			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr22:42263286T>C	uc003bbi.3	+	2	707	c.538_splice	c.e2+2	p.V180_splice	bK250D10.C22.8_uc003bba.1_Intron	NM_004599	NP_004590	Q12772	SRBP2_HUMAN	Homo sapiens sterol regulatory element binding transcription factor 2 (SREBF2), mRNA.	180	Gln-rich.				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|SREBP-SCAP-Insig complex|nucleus	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GCTTTCAAGGTGATTCAGAAG	0.448000														60			26		0	0	0.00127121	0	0
PCDHB4	56131	broad.mit.edu	37	5	140501624	140501624	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:140501624C>T	uc003lip.1	+	0	44	c.44C>T	c.(43-45)gCc>gTc	p.A15V		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	15					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAAGTGTTGGCCTTTATTTTG	0.498000														41			23		0	0	0.000878237	0	0
CACNA1B	774	broad.mit.edu	37	9	141016315	141016315	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:141016315C>T	uc004cog.3	+	45	7023	c.6878C>T	c.(6877-6879)tCc>tTc	p.S2293F	CACNA1B_uc022bqn.1_Missense_Mutation_p.P2231S|CACNA1B_uc004coi.3_Missense_Mutation_p.S1507F	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	2295					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TCCAGGACTTCCTACGTGTCC	0.662000														38			20		0	0	0.00229938	0	0
AGER	177	broad.mit.edu	37	6	32151127	32151127	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:32151127C>T	uc003oal.2	-	3	494	c.394G>A	c.(394-396)Gaa>Aaa	p.E132K	AGER_uc021yvm.1_Missense_Mutation_p.E45K|AGER_uc021yvn.1_Missense_Mutation_p.E31K|AGER_uc010jtw.2_Non-coding_Transcript|AGER_uc021yvp.1_5'UTR|AGER_uc021yvq.1_Missense_Mutation_p.E31K|AGER_uc011dpn.2_Missense_Mutation_p.E31K|AGER_uc011dpm.2_Missense_Mutation_p.E31K|AGER_uc003oap.2_Missense_Mutation_p.E132K|AGER_uc021yvr.1_Missense_Mutation_p.E132K|AGER_uc003oam.2_Intron|AGER_uc003oau.2_Missense_Mutation_p.E132K|AGER_uc003oas.2_Missense_Mutation_p.E132K|AGER_uc010jtv.2_Missense_Mutation_p.E132K|AGER_uc003oar.3_Missense_Mutation_p.E31K|AGER_uc003oaq.2_Missense_Mutation_p.E118K|AGER_uc003oat.2_Missense_Mutation_p.E132K|AGER_uc003oan.2_Missense_Mutation_p.E118K|AGER_uc011dpo.2_Missense_Mutation_p.E45K|AGER_uc003oao.2_Non-coding_Transcript|AGER_uc021yvo.1_Missense_Mutation_p.E45K|AGER_uc011dpp.2_Missense_Mutation_p.E163K|AGER_uc011dpq.2_Missense_Mutation_p.E163K|AGER_uc011dpr.2_Missense_Mutation_p.E163K	NM_001136	NP_001127	Q15109	RAGE_HUMAN	Homo sapiens advanced glycosylation end product-specific receptor (AGER), transcript variant 1, mRNA.	132	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	S100 alpha binding|transmembrane receptor activity			breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						GCCGTGAGTTCAGAGGCAGAA	0.493000														198			136		0	0	0.000781405	0	0
GBA3	57733	broad.mit.edu	37	4	22820518	22820518	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:22820518G>A	uc003gqp.4	+	5	1470	c.1379G>A	c.(1378-1380)cGa>cAa	p.R460Q	GBA3_uc010iep.3_Missense_Mutation_p.R153Q|GBA3_uc011bxo.2_3'UTR	NM_020973	NP_066024	Q9H227	GBA3_HUMAN	Homo sapiens glucosidase, beta, acid 3 (cytosolic) (GBA3), transcript variant 1, mRNA.	461					glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AAGATCATCCGAAACAATGGC	0.483000														2			10		0	0	0.000978159	0	0
FAM5B	57795	broad.mit.edu	37	1	177245527	177245527	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:177245527C>T	uc001glf.3	+	5	1281	c.969C>T	c.(967-969)atC>atT	p.I323I	FAM5B_uc010pna.1_Silent_p.I73I|FAM5B_uc001glg.3_Silent_p.I218I	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	323						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						TGCTGCAGATCCAGGACTCCT	0.572000														40			10		0	0	0.000673444	0	0
NOTCH4	4855	broad.mit.edu	37	6	32182001	32182001	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:32182001C>T	uc003obb.3	-	12	2192	c.2053G>A	c.(2053-2055)Ggg>Agg	p.G685R	NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	685	EGF-like 17.				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	p.T684M(2)		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						CACTCTGGCCCCGTCCAACCC	0.597000														151			78		0	0	0.000781405	0	0
SPANXN5	494197	broad.mit.edu	37	X	52826350	52826350	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:52826350C>T	uc004drc.1	-	0	39	c.39G>A	c.(37-39)agG>agA	p.R13R		NM_001009616	NP_001009616	Q5MJ07	SPXN5_HUMAN	Homo sapiens SPANX family, member N5 (SPANXN5), mRNA.	13								p.R13R(3)		large_intestine(1)|lung(5)|skin(2)	8	Ovarian(276;0.236)					AGGGGCTCTTCCTCTTCTCCC	0.478000														10			65		0	0	0.000781405	0	0
DNAH5	1767	broad.mit.edu	37	5	13769624	13769624	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:13769624C>T	uc003jfd.2	-	56	9748	c.9706G>A	c.(9706-9708)Gat>Aat	p.D3236N	DNAH5_uc003jfc.2_5'Flank	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3236	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCGGCTTTATCGTTGGCCACT	0.418000									Kartagener syndrome					56			36		0	0	0.000953801	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140745801	140745801	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:140745801G>A	uc003lju.2	+	0	1904	c.1904G>A	c.(1903-1905)aGa>aAa	p.R635K	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_uc011das.2_Missense_Mutation_p.R635K	NM_018918	NP_061741	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 5 (PCDHGA5), transcript variant 1, mRNA.	637	Cadherin 6.				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)			CTGCTGGACAGAGACGCGCTC	0.672000														52			45		0	0	0.000781405	0	0
DBC1	1620	broad.mit.edu	37	9	121930245	121930245	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:121930245G>A	uc004bkc.2	-	7	1859	c.1403C>T	c.(1402-1404)tCg>tTg	p.S468L		NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	468					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						GCTCCGCTCCGAGTCCACGTT	0.587000														17			18		0	0	0.00152264	0	0
C15orf53	400359	broad.mit.edu	37	15	38990679	38990679	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:38990679G>A	uc001zkf.1	+	1	483	c.473G>A	c.(472-474)aGg>aAg	p.R158K		NM_207444	NP_997327	Q8NAA6	CO053_HUMAN	Homo sapiens chromosome 15 open reading frame 53 (C15orf53), mRNA.	158										endometrium(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	6		all_cancers(109;1.75e-13)|all_epithelial(112;1.02e-11)|Lung NSC(122;1.9e-09)|all_lung(180;4.04e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;8.39e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0321)		TCCACCAGGAGGAGAGCATGC	0.547000														11			4		0	0	0.000602214	0	0
OBSCN	84033	broad.mit.edu	37	1	228505743	228505743	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:228505743G>A	uc009xez.1	+	52	14044	c.14000G>A	c.(13999-14001)gGg>gAg	p.G4667E	OBSCN_uc001hsn.3_Missense_Mutation_p.G4667E	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	4667	Ig-like 47.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding	p.A4667A(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAGCCCGGTGGGCGGTTCGAG	0.627000														129			48		0	0	0.000781405	0	0
CHERP	10523	broad.mit.edu	37	19	16641485	16641485	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:16641485G>A	uc002nei.1	-	7	861	c.787_splice	c.e7-1	p.L263_splice	MED26_uc002nee.2_Intron	NM_006387	NP_006378	Q8IWX8	CHERP_HUMAN	Homo sapiens calcium homeostasis endoplasmic reticulum protein (CHERP), mRNA.	263	CID.				RNA processing|cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						AGCTGCAGGAGCTGGCGGTGG	0.662000														37			14		0	0	0.000219431	0	0
HSF5	124535	broad.mit.edu	37	17	56544271	56544271	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:56544271G>A	uc002iwi.1	-	2	1119	c.995C>T	c.(994-996)tCc>tTc	p.S332F		NM_001080439	NP_001073908	Q4G112	HSF5_HUMAN	Homo sapiens heat shock transcription factor family member 5 (HSF5), mRNA.	332						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GTGTGCATAGGAAGAGGCATT	0.438000														67			77		0	0	0.000781405	0	0
BMP2	650	broad.mit.edu	37	20	6759677	6759677	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:6759677G>A	uc002wmu.1	+	2	1917	c.1132G>A	c.(1132-1134)Gaa>Aaa	p.E378K		NM_001200	NP_001191	P12643	BMP2_HUMAN	Homo sapiens bone morphogenetic protein 2 (BMP2), mRNA.	378					BMP signaling pathway involved in heart induction|SMAD protein signal transduction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter	extracellular space	BMP receptor binding|SMAD binding|activin receptor activity, type II|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|transforming growth factor beta receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13					Simvastatin(DB00641)	TGACGAGAATGAAAAGGTTGT	0.383000														38			31		0	0	0.00111076	0	0
SCN11A	11280	broad.mit.edu	37	3	38991643	38991643	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:38991643G>A	uc021wvy.1	-	0	410	c.211C>T	c.(211-213)Cgt>Tgt	p.R71C		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	71					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	ATGAGCTCACGAGGAATGTCG	0.552000														103			46		0	0	0.000781405	0	0
JAK2	3717	broad.mit.edu	37	9	5064921	5064921	+	Silent	SNP	C	T	T	rs140973912		TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:5064921C>T	uc010mhm.3	+	7	1208	c.1095C>T	c.(1093-1095)ttC>ttT	p.F365F	JAK2_uc003ziw.3_Silent_p.F365F	NM_004972	NP_004963	O60674	JAK2_HUMAN	Homo sapiens Janus kinase 2 (JAK2), mRNA.	365	FERM.				JAK-STAT cascade involved in growth hormone signaling pathway|STAT protein import into nucleus|actin filament polymerization|activation of JAK2 kinase activity|activation of caspase activity by protein phosphorylation|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of DNA binding|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|SH2 domain binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		CTTTGTCTTTCGTGTCATTAA	0.348000		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial					65			31		0	0	0.00111076	0	0
ANKRD12	23253	broad.mit.edu	37	18	9258459	9258459	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr18:9258459C>T	uc002knv.3	+	8	5458	c.5194C>T	c.(5194-5196)Cct>Tct	p.P1732S	ANKRD12_uc002knw.3_Missense_Mutation_p.P1709S|ANKRD12_uc002knx.3_Missense_Mutation_p.P1709S|ANKRD12_uc010dkx.1_Missense_Mutation_p.P1439S	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	Homo sapiens ankyrin repeat domain 12 (ANKRD12), transcript variant 1, mRNA.	1732						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						AAACCAAATCCCTCAAAGAAT	0.343000														18			8		0	0	0.000978159	0	0
CDSN	1041	broad.mit.edu	37	6	31083847	31083847	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:31083847G>A	uc003nsm.2	-	1	1601	c.1545C>T	c.(1543-1545)gaC>gaT	p.D515D	PSORS1C1_uc003nsl.2_Intron|PSORS1C1_uc010jsj.2_Intron	NM_001264	NP_001255	Q15517	CDSN_HUMAN	Homo sapiens corneodesmosin (CDSN), mRNA.	515					cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						AAACTTCAGGGTCAGCTAGCT	0.542000														29			15		0	0	0.000308642	0	0
AKAP9	10142	broad.mit.edu	37	7	91712547	91712547	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:91712547G>A	uc003ulg.3	+	32	8449	c.8224G>A	c.(8224-8226)Gag>Aag	p.E2742K	AKAP9_uc003ulf.3_Missense_Mutation_p.E2734K|AKAP9_uc003uli.3_Missense_Mutation_p.E2365K|AKAP9_uc003ulj.3_Missense_Mutation_p.E512K|AKAP9_uc003ulk.3_Missense_Mutation_p.E17K	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	2754	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TCACCTCGCAGAGGCAAAAGA	0.378000			T	BRAF	papillary thyroid									28			23		0	0	0.000720815	0	0
EMR3	84658	broad.mit.edu	37	19	14772823	14772823	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:14772823G>A	uc002mzi.4	-	3	455	c.307C>T	c.(307-309)Cat>Tat	p.H103Y	EMR3_uc010dzp.3_Intron|EMR3_uc010xnv.2_Intron	NM_032571	NP_115960	Q9BY15	EMR3_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 3 (EMR3), mRNA.	103	EGF-like 2; calcium-binding (Potential).				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						TTCCCAGAATGCAGTCTATAT	0.398000														40			24		0	0	0.00047179	0	0
CCDC170	80129	broad.mit.edu	37	6	151894487	151894487	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:151894487C>T	uc003qol.3	+	5	1042	c.953C>T	c.(952-954)aCc>aTc	p.T318I		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	Homo sapiens chromosome 6 open reading frame 97 (C6orf97), mRNA.	318																	GCAGTCACAACCTCACAAAGC	0.507000														15			29		0	0	0.000692331	0	0
RDM1	201299	broad.mit.edu	37	17	34249679	34249679	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:34249679C>T	uc002hkh.3	-	5	618	c.569_splice	c.e5-1	p.G190_splice	RDM1_uc010cty.3_Intron|RDM1_uc010ctz.3_Intron|RDM1_uc010cua.3_Splice_Site_p.G167_splice|RDM1_uc002hkg.4_Intron|RDM1_uc010cub.3_Splice_Site|RDM1_uc010cuf.3_Splice_Site|RDM1_uc010cue.3_Splice_Site|RDM1_uc010cug.3_Intron|RDM1_uc010cuc.3_Intron|RDM1_uc010cud.3_Intron|RDM1_uc010wco.2_Splice_Site_p.D111_splice|RDM1_uc010wcp.2_Splice_Site_p.G167_splice|RDM1_uc002hki.3_Splice_Site_p.G190_splice	NM_145654	NP_663629	Q8NG50	RDM1_HUMAN	Homo sapiens RAD52 motif 1 (RDM1), transcript variant 1, mRNA.	190					DNA recombination|DNA repair	Cajal body|PML body|cytoplasm|nucleolus	DNA binding|RNA binding|nucleotide binding			breast(1)|kidney(3)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)	9		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TGATAATGGTCCTAAATCCAA	0.348000								Other identified genes with known or suspected DNA repair function						169			50		0	0	0.000781405	0	0
COIL	8161	broad.mit.edu	37	17	55027331	55027331	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:55027331G>A	uc002iuu.3	-	1	1303	c.1272C>T	c.(1270-1272)tcC>tcT	p.S424S		NM_004645	NP_004636	P38432	COIL_HUMAN	Homo sapiens coilin (COIL), mRNA.	424	2 X 4 AA repeats of S-L-P-A.					Cajal body|nucleolus	protein C-terminus binding	p.S424S(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					TTACAACACAGGAAACAGGAT	0.443000														99			35		0	0	0.000692331	0	0
EPHA6	285220	broad.mit.edu	37	3	96962891	96962891	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:96962891G>A	uc010how.1	+	4	1409	c.1366G>A	c.(1366-1368)Gat>Aat	p.D456N	EPHA6_uc003drp.1_Missense_Mutation_p.D456N	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	361	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						AGGGAGAAAAGATCTCACATA	0.478000														6			9		0	0	0.000442599	0	0
PPYR1	5540	broad.mit.edu	37	10	47087528	47087528	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:47087528C>T	uc001jee.3	+	2	1164	c.745C>T	c.(745-747)Cac>Tac	p.H249Y	ANXA8L1_uc001jed.4_Intron|PPYR1_uc009xna.3_Missense_Mutation_p.H249Y|PPYR1_uc021ppu.1_Missense_Mutation_p.H249Y	NM_005972	NP_005963	P50391	NPY4R_HUMAN	Homo sapiens pancreatic polypeptide receptor 1 (PPYR1), mRNA.	249					blood circulation|digestion|feeding behavior	integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GCGCGTGTTTCACAAGGGCAC	0.602000														95			22		0	0	0.000878237	0	0
MRPS14	63931	broad.mit.edu	37	1	174987584	174987584	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:174987584C>T	uc001gkk.3	-	1	221	c.174G>A	c.(172-174)agG>agA	p.R58R	MRPS14_uc009wwr.3_Silent_p.R43R	NM_022100	NP_071383	O60783	RT14_HUMAN	Homo sapiens mitochondrial ribosomal protein S14 (MRPS14), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	58					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome			large_intestine(2)|lung(5)|pancreas(1)|prostate(2)	10						TGGTATTCTTCCTGAGTGAAT	0.388000														166			67		0	0	0.000781405	0	0
IKBKAP	8518	broad.mit.edu	37	9	111658840	111658840	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:111658840T>G	uc004bdm.4	-	24	3192	c.2672A>C	c.(2671-2673)tAt>tCt	p.Y891S	IKBKAP_uc004bdl.3_Missense_Mutation_p.Y542S|IKBKAP_uc011lwc.2_Missense_Mutation_p.Y777S|IKBKAP_uc010mtq.3_Missense_Mutation_p.Y542S	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.	891					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						AGAATGATCATATAATTCATT	0.403000														26			12		0	0	0.000978159	0	0
FBXO47	494188	broad.mit.edu	37	17	37118295	37118296	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:37118295_37118296CC>TT	uc002hrc.2	-	2	386_387	c.186_187GG>AA	c.(184-189)aaggat>aaAAat	p.D63N		NM_001008777	NP_001008777	Q5MNV8	FBX47_HUMAN	Homo sapiens F-box protein 47 (FBXO47), mRNA.	63	F-box.									NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						ATGCTGATATCCTTCACTACCA	0.342000														90			25		0	0	6.4e-05	0	0
FGD5	152273	broad.mit.edu	37	3	14905750	14905750	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:14905750C>T	uc003bzc.3	+	1	2751	c.2641C>T	c.(2641-2643)Ccc>Tcc	p.P881S	FGD5_uc011avk.2_Missense_Mutation_p.P881S	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	881					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding	p.P881T(1)|p.P640T(1)		NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TTCAAGAGACCCCAGTGTCAC	0.587000														40			23		0	0	0.00106085	0	0
KCNJ6	3763	broad.mit.edu	37	21	39087096	39087096	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr21:39087096C>T	uc011aej.1	-	2	417	c.364G>A	c.(364-366)Gac>Aac	p.D122N	KCNJ6_uc002ywo.2_Missense_Mutation_p.D122N	NM_002240	NP_002231	P48051	IRK6_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 6 (KCNJ6), mRNA.	122					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	TCTATGTGGTCCATGTCTCCC	0.448000														50			29		0	0	0.001512	0	0
CFI	3426	broad.mit.edu	37	4	110662205	110662205	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:110662205C>T	uc011cft.2	-	13	1828	c.1620G>A	c.(1618-1620)atG>atA	p.M540I	CFI_uc003hzq.3_Missense_Mutation_p.M329I|CFI_uc003hzr.4_Missense_Mutation_p.M532I	NM_000204	NP_000195	P05156	CFAI_HUMAN	Homo sapiens complement factor I (CFI), mRNA.	532	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		TGTTGGCATCCATACAGACTA	0.443000														113			64		0	0	0.000781405	0	0
OR4P4	81300	broad.mit.edu	37	11	55406121	55406121	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:55406121G>A	uc010rij.2	+	0	288	c.288G>A	c.(286-288)atG>atA	p.M96I		NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily P, member 4 (OR4P4), mRNA.	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C95S(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						ATAACTGTATGATACAACTCT	0.448000														43			31		0	0	0.000491102	0	0
KCNA2	3737	broad.mit.edu	37	1	111146504	111146504	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:111146504C>T	uc021oro.1	-	0	901	c.901G>A	c.(901-903)Gtc>Atc	p.V301I	KCNA2_uc009wfv.2_Intron|KCNA2_uc009wfw.3_Missense_Mutation_p.V301I	NM_004974	NP_004965	P16389	KCNA2_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 2 (KCNA2), transcript variant 1, mRNA.	301						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		ATCCTAAAGACTCTTACCAAC	0.527000														54			32		0	0	0.00178596	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576808	158576808	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:158576808C>T	uc010pio.2	+	0	580	c.580C>T	c.(580-582)Ccg>Tcg	p.P194S		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA.	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P194P(1)		endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					AGATACAGGCCCGAGTGAGCT	0.488000														36			15		0	0	0.00074312	0	0
BC128131	0	broad.mit.edu	37	19	23159540	23159540	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:23159540G>A	uc002nqz.1	-	1	433	c.407C>T	c.(406-408)tCc>tTc	p.S136F	BC128131_uc002nqy.1_Non-coding_Transcript					Homo sapiens zinc finger protein 117, mRNA (cDNA clone IMAGE:40112371).																		ACTTTTGTAGGAATTCTCTCT	0.348000														11			5		0	0	0.000602214	0	0
TDRD5	163589	broad.mit.edu	37	1	179564890	179564890	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:179564890A>T	uc010pnp.2	+	3	1286	c.768A>T	c.(766-768)gaA>gaT	p.E256D	TDRD5_uc021pfm.1_Missense_Mutation_p.E256D|TDRD5_uc001gnf.2_Missense_Mutation_p.E256D|TDRD5_uc021pfn.1_Missense_Mutation_p.E256D	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	256					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TGAGCATGGAAAAGACTTCCA	0.393000														84			26		0	0	0.0024448	0	0
LPHN2	23266	broad.mit.edu	37	1	82409110	82409110	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:82409110G>A	uc001dit.4	+	5	1036	c.855G>A	c.(853-855)atG>atA	p.M285I	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Missense_Mutation_p.M285I|LPHN2_uc001div.3_Missense_Mutation_p.M285I|LPHN2_uc009wcd.3_Missense_Mutation_p.M285I	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	285	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		ACAATGGAATGATAGTTATTA	0.423000														17			14		0	0	0.00185496	0	0
CACNA1A	773	broad.mit.edu	37	19	13423558	13423559	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:13423558_13423559GG>AA	uc002mwy.3	-	11	1828_1829	c.1592_1593CC>TT	c.(1591-1593)tcc>tTT	p.S531F	CACNA1A_uc010dzc.2_Missense_Mutation_p.S57F|CACNA1A_uc010xnd.2_Missense_Mutation_p.S531F|CACNA1A_uc021ups.1_Missense_Mutation_p.S531F|CACNA1A_uc010xne.2_Missense_Mutation_p.S531F|CACNA1A_uc010dze.2_Missense_Mutation_p.S531F|CACNA1A_uc021upt.1_Missense_Mutation_p.S532F	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	532					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TAAACATTTCGGACATAAAGAG	0.460000														57			29		0	0	6.4e-05	0	0
XIST	7503	broad.mit.edu	37	X	73070714	73070714	+	RNA	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:73070714G>A	uc004ebm.1	-	0		c.1875C>T								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		GGACAGGAGGGGACAAATAAG	0.527000														2			6		0	0	0.00116845	0	0
SCN11A	11280	broad.mit.edu	37	3	38892117	38892117	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:38892117C>T	uc021wvy.1	-	24	4381	c.4182G>A	c.(4180-4182)atG>atA	p.M1394I	SCN11A_uc003cis.1_Missense_Mutation_p.M59I	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1394					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GGATGGATTTCATGGCTTTGG	0.388000														58			29		0	0	0.00178596	0	0
CCDC78	124093	broad.mit.edu	37	16	775518	775518	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:775518G>A	uc002cjg.3	-	3	436	c.330C>T	c.(328-330)ggC>ggT	p.G110G	CCDC78_uc002cjh.3_5'UTR|CCDC78_uc002cji.3_Silent_p.G184G|CCDC78_uc002cjj.3_Intron|CCDC78_uc010uuo.1_Silent_p.G110G|CCDC78_uc002cjk.2_Silent_p.G110G|HAGHL_uc002cjl.1_5'Flank|HAGHL_uc002cjn.1_5'Flank|HAGHL_uc002cjo.1_5'Flank|HAGHL_uc010uup.1_5'Flank	NM_001031737	NP_001026907	A2IDD5	CCD78_HUMAN	Homo sapiens coiled-coil domain containing 78 (CCDC78), mRNA.	110								p.Q109K(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3)	9		Hepatocellular(780;0.0218)				GGACTGCACAGCCCTGGCTGG	0.637000														19			17		0	0	0.000958276	0	0
TAF1	6872	broad.mit.edu	37	X	70683700	70683700	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:70683700C>T	uc004dzu.4	+	37	5474	c.5423C>T	c.(5422-5424)cCc>cTc	p.P1808L	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.4_Missense_Mutation_p.P1829L|TAF1_uc004dzv.4_Missense_Mutation_p.P1016L|TAF1_uc010nle.1_Intron|TAF1_uc010nlf.1_Intron|TAF1_uc004dzx.2_Intron|TAF1_uc004dzy.2_Intron|TAF1_uc004dzw.1_Intron|TAF1_uc010nlg.1_Intron	NM_138923	NP_620278	P21675	TAF1_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 2, mRNA.	1808	Asp/Glu-rich (acidic tail).|Protein kinase 2.				G1 phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|TBP-class protein binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GAGCCTGATCCCAAGTCGAAC	0.532000														1			8		0	0	0.000442599	0	0
DISP1	84976	broad.mit.edu	37	1	223176378	223176378	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:223176378C>T	uc001hnu.2	+	9	1965	c.1639C>T	c.(1639-1641)Cgt>Tgt	p.R547C		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA.	547	SSD.				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TTTTCTCTATCGTGTAGTATT	0.358000														585			218		0	0	0.000781405	0	0
TRIM3	10612	broad.mit.edu	37	11	6477915	6477915	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:6477915G>A	uc001mdh.3	-	6	1437	c.1041C>T	c.(1039-1041)acC>acT	p.T347T	TRIM3_uc001mdi.3_Silent_p.T347T|TRIM3_uc010raj.2_Silent_p.T228T|TRIM3_uc009yfd.3_Silent_p.T347T|TRIM3_uc010rak.1_Silent_p.T347T|TRIM3_uc001mdj.2_Silent_p.T228T	NM_006458	NP_006449	O75382	TRIM3_HUMAN	Homo sapiens tripartite motif containing 3 (TRIM3), transcript variant 1, mRNA.	347				T -> A (in Ref. 1; AAC24809 and 2; AAG53474/AAG53475/AAG53476).	nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTTGTCTTTGGTAGTGACAG	0.687000														27			25		0	0	0.0024448	0	0
C6orf201	404220	broad.mit.edu	37	6	4099236	4099236	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:4099236G>A	uc003mwa.4	+	2	856	c.88G>A	c.(88-90)Gag>Aag	p.E30K	C6orf201_uc003mvz.4_Non-coding_Transcript|C6orf201_uc011dhw.1_Missense_Mutation_p.E30K|C6orf201_uc003mwb.4_Non-coding_Transcript	NM_001085401	NP_001078870	Q7Z4U5	CF201_HUMAN	Homo sapiens chromosome 6 open reading frame 201 (C6orf201), mRNA.	30								p.E30K(2)		central_nervous_system(1)|endometrium(3)|lung(2)	6	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				ATTACCAGGTGAGAATCCTGA	0.403000														18			14		0	0	0.000219431	0	0
ALDH9A1	223	broad.mit.edu	37	1	165652297	165652297	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:165652297G>A	uc001gdh.1	-	2	483	c.378C>T	c.(376-378)tcC>tcT	p.S126S	ALDH9A1_uc010pky.1_Silent_p.S32S|ALDH9A1_uc010pkz.1_Silent_p.S116S|ALDH9A1_uc010pla.1_Silent_p.S32S	NM_000696	NP_000687	P49189	AL9A1_HUMAN	Homo sapiens aldehyde dehydrogenase 9 family, member A1 (ALDH9A1), mRNA.	102					carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process	cytosol|plasma membrane	3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				NADH(DB00157)	CCTCAAAGATGGACTTGCCAT	0.473000														37			60		0	0	0.000781405	0	0
SLC35F3	148641	broad.mit.edu	37	1	234455867	234455867	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:234455867G>A	uc001hvy.1	+	6	1316	c.1171G>A	c.(1171-1173)Gga>Aga	p.G391R	SLC35F3_uc001hwa.1_Missense_Mutation_p.G322R	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	Homo sapiens solute carrier family 35, member F3 (SLC35F3), mRNA.	322					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			ATTAAATTTTGGAATTGCCGT	0.403000														87			20		0	0	0.000375601	0	0
PLXND1	23129	broad.mit.edu	37	3	129278531	129278531	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:129278531G>A	uc003emx.2	-	31	5329	c.5229C>T	c.(5227-5229)ttC>ttT	p.F1743F	PLXND1_uc003emw.2_5'Flank|PLXND1_uc011blb.1_Silent_p.F411F	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	Homo sapiens plexin D1 (PLXND1), mRNA.	1743					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GCTCCTCCAGGAAGTCGAAAA	0.572000														46			44		0	0	0.000781405	0	0
CNGA3	1261	broad.mit.edu	37	2	98996720	98996720	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:98996720G>A	uc010fij.3	+	3	451	c.310G>A	c.(310-312)Gat>Aat	p.D104N	CNGA3_uc002syt.3_Missense_Mutation_p.D100N|CNGA3_uc002syu.3_Missense_Mutation_p.D100N			Q16281	CNGA3_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 3 (CNGA3), transcript variant 1, mRNA.	100					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						CTCTTTTCCTGATCGTTTCCG	0.597000														39			30		0	0	0.000491102	0	0
FAT3	120114	broad.mit.edu	37	11	92614005	92614005	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:92614005G>A	uc001pdj.4	+	21	12253	c.12236G>A	c.(12235-12237)gGa>gAa	p.G4079E	FAT3_uc001pdi.4_Missense_Mutation_p.G519E	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	4079	EGF-like 3.				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)				GATCCAATAGGAAACACTTTC	0.448000										TCGA Ovarian(4;0.039)				210			139		0	0	0.000781405	0	0
AHNAK	79026	broad.mit.edu	37	11	62296332	62296332	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:62296332G>A	uc001ntl.3	-	4	5857	c.5557C>T	c.(5557-5559)Ccc>Tcc	p.P1853S	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	1853					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GAGATCTTGGGGGCCTTGAAG	0.512000														121			78		0	0	0.000781405	0	0
OR51F2	119694	broad.mit.edu	37	11	4842988	4842988	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:4842988G>A	uc010qyn.2	+	0	373	c.373G>A	c.(373-375)Gag>Aag	p.E125K		NM_001004753	NP_001004753	Q8NH61	O51F2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 2 (OR51F2), mRNA.	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TACTTTCATGGAGTCTGGGGT	0.463000														39			29		0	0	0.001512	0	0
TRAPPC11	60684	broad.mit.edu	37	4	184585175	184585175	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:184585175C>T	uc003ivx.3	+	1	357	c.155C>T	c.(154-156)tCt>tTt	p.S52F	TRAPPC11_uc003ivw.3_Missense_Mutation_p.S52F|TRAPPC11_uc010isc.3_5'UTR	NM_021942	NP_068761	Q7Z392	CD041_HUMAN	Homo sapiens trafficking protein particle complex 11 (TRAPPC11), transcript variant 1, mRNA.	52																	GTACCAATTTCTTTCAAGGTG	0.468000														45			28		0	0	0.00178596	0	0
ACLY	47	broad.mit.edu	37	17	40042418	40042418	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:40042418G>A	uc002hyg.3	-	17	2182	c.2019C>T	c.(2017-2019)atC>atT	p.I673I	ACLY_uc002hyh.3_Silent_p.I663I|ACLY_uc002hyi.3_Silent_p.I727I|ACLY_uc010wfx.2_Silent_p.I717I|ACLY_uc010wfy.2_Silent_p.I402I	NM_001096	NP_001087	P53396	ACLY_HUMAN	Homo sapiens ATP citrate lyase (ACLY), transcript variant 1, mRNA.	673					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				TCCGAGAGATGATATTGTTGA	0.582000														116			133		0	0	0.000781405	0	0
DNAH7	56171	broad.mit.edu	37	2	196825267	196825267	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:196825267C>T	uc002utj.4	-	17	2709	c.2608G>A	c.(2608-2610)Gac>Aac	p.D870N		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	870	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ACTGTGGAGTCATCTGATGGC	0.443000														44			22		0	0	0.00229938	0	0
CTNNB1	1499	broad.mit.edu	37	3	41275738	41275738	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:41275738C>T	uc010hia.1	+	10	1789	c.1633C>T	c.(1633-1635)Cag>Tag	p.Q545*	CTNNB1_uc003ckq.2_Nonsense_Mutation_p.Q545*|CTNNB1_uc003ckp.2_Nonsense_Mutation_p.Q545*|CTNNB1_uc003ckr.2_Nonsense_Mutation_p.Q545*|CTNNB1_uc011azf.1_Nonsense_Mutation_p.Q538*|CTNNB1_uc011azg.1_Nonsense_Mutation_p.Q473*|CTNNB1_uc003cks.3_3'UTR|CTNNB1_uc003ckt.1_5'Flank	NM_001904	NP_001895	P35222	CTNB1_HUMAN	Homo sapiens catenin (cadherin-associated protein), beta 1, 88kDa (CTNNB1), transcript variant 1, mRNA.	545					Schwann cell proliferation|T cell differentiation in thymus|adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of T cell proliferation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|Z disc|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|zonula adherens	I-SMAD binding|R-SMAD binding|RPTP-like protein binding|alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|ion channel binding|protein C-terminus binding|protein binding|protein kinase binding|protein phosphatase binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	TCGTGCACATCAGGATACCCA	0.478000		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of					25			18		0	0	0.000566183	0	0
BCL2L14	79370	broad.mit.edu	37	12	12232276	12232276	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:12232276C>T	uc001rac.3	+	1	238	c.37C>T	c.(37-39)Ccc>Tcc	p.P13S	ETV6_uc001raa.1_Intron|BCL2L14_uc001raf.1_Non-coding_Transcript|BCL2L14_uc001rad.3_Missense_Mutation_p.P13S|BCL2L14_uc001rae.3_Missense_Mutation_p.P13S	NM_138723	NP_620049	Q9BZR8	B2L14_HUMAN	Homo sapiens BCL2-like 14 (apoptosis facilitator) (BCL2L14), transcript variant 4, mRNA.	13					apoptosis|regulation of apoptosis	cytosol|endomembrane system|intracellular organelle|membrane	protein binding			large_intestine(1)|lung(2)|skin(3)	6		Prostate(47;0.0872)		BRCA - Breast invasive adenocarcinoma(232;0.154)		GGAAGAAATCCCCCTAGATGA	0.488000														45			30		0	0	0.0024448	0	0
ABCA1	19	broad.mit.edu	37	9	107581899	107581899	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:107581899C>A	uc004bcl.3	-	21	3613	c.3209G>T	c.(3208-3210)gGa>gTa	p.G1070V		NM_005502	NP_005493	O95477	ABCA1_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 1 (ABCA1), mRNA.	1070	ABC transporter 1.				Cdc42 protein signal transduction|G-protein coupled receptor protein signaling pathway|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	ATP binding|ATPase activity|anion transmembrane transporter activity|apolipoprotein A-I receptor activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CTCCCATATTCCCCTGCGGGA	0.517000														53			45		1.21353e-23	5.61645e-23	0.000781405	1	0
RBMS1	5937	broad.mit.edu	37	2	161141366	161141366	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:161141366G>A	uc002ubo.3	-	8	1264	c.820C>T	c.(820-822)Cca>Tca	p.P274S	RBMS1_uc002ubn.3_Missense_Mutation_p.P271S|RBMS1_uc002ubi.4_Missense_Mutation_p.P271S|RBMS1_uc002ubm.3_Missense_Mutation_p.P241S|RBMS1_uc002ubp.3_Missense_Mutation_p.P274S|RBMS1_uc010fox.2_Missense_Mutation_p.P274S	NM_016836	NP_058520	P29558	RBMS1_HUMAN	Homo sapiens RNA binding motif, single stranded interacting protein 1 (RBMS1), transcript variant 1, mRNA.	274					DNA replication|RNA processing	nucleus	RNA binding|double-stranded DNA binding|nucleotide binding|protein binding|single-stranded DNA binding		PLA2R1/RBMS1(2)								ATACTGTATGGTGAAGGATAA	0.343000														31			14		0	0	0.000219431	0	0
CILP	8483	broad.mit.edu	37	15	65490444	65490444	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:65490444C>T	uc002aon.2	-	8	2361	c.2180G>A	c.(2179-2181)aGa>aAa	p.R727K		NM_003613	NP_003604	O75339	CILP1_HUMAN	Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA.	727					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CAGGAAGGTTCTGTCTTCTCT	0.498000														100			52		0	0	0.000781405	0	0
ZNF267	10308	broad.mit.edu	37	16	31896570	31896570	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:31896570C>T	uc002ecs.4	+	2	428	c.219C>T	c.(217-219)atC>atT	p.I73I		NM_003414	NP_003405	Q14586	ZN267_HUMAN	Homo sapiens zinc finger protein 267 (ZNF267), transcript variant 498723, mRNA.	73	KRAB.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						CAGTAGCCATCCAGCCAGGTA	0.483000														12			11		0	0	0.000978159	0	0
CHPT1	56994	broad.mit.edu	37	12	102108354	102108354	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:102108354T>C	uc001tin.3	+	2	717	c.494T>C	c.(493-495)tTt>tCt	p.F165S	CHPT1_uc001tio.3_Non-coding_Transcript|CHPT1_uc001tip.1_Missense_Mutation_p.F165S	NM_020244	NP_064629	Q8WUD6	CHPT1_HUMAN	Homo sapiens choline phosphotransferase 1 (CHPT1), mRNA.	165					platelet activating factor biosynthetic process|regulation of cell growth	Golgi membrane|integral to membrane|microsome	diacylglycerol binding|diacylglycerol cholinephosphotransferase activity|metal ion binding			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						TTCTGCTCTTTTATTGGGATG	0.353000														64			47		0	0	0.000781405	0	0
PRB2	653247	broad.mit.edu	37	12	11545984	11545984	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:11545984C>T	uc010shk.1	-	2	1063	c.1028G>A	c.(1027-1029)gGa>gAa	p.G343E		NM_006248	NP_006239			Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA.									p.G343E(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTGTGGCTTTCCTGGAGGTGG	0.597000														93			50		0	0	0.000781405	0	0
KIAA1199	57214	broad.mit.edu	37	15	81212561	81212561	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:81212561G>A	uc002bfw.1	+	13	2184	c.1924G>A	c.(1924-1926)Gac>Aac	p.D642N	KIAA1199_uc010unn.1_Missense_Mutation_p.D642N	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	Homo sapiens KIAA1199 (KIAA1199), mRNA.	642										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CCTCCCCTCGGACCGTGACAG	0.572000														28			12		0	0	0.000978159	0	0
TIE1	7075	broad.mit.edu	37	1	43770717	43770717	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:43770717C>T	uc001ciu.3	+	1	431	c.254C>T	c.(253-255)tCg>tTg	p.S85L	TIE1_uc010okd.2_Missense_Mutation_p.S85L|TIE1_uc010oke.2_Missense_Mutation_p.S40L|TIE1_uc009vwq.3_Missense_Mutation_p.S85L|TIE1_uc010okf.1_5'UTR|TIE1_uc010okg.2_5'Flank|TIE1_uc010oka.2_Missense_Mutation_p.S85L|TIE1_uc010okb.2_Missense_Mutation_p.S85L|TIE1_uc010okc.2_Missense_Mutation_p.S85L	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	85	Ig-like C2-type 1.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.S85S(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CGCAACGGTTCGCACCAGGTC	0.736000														8			4		0	0	0.00116845	0	0
OR6Y1	391112	broad.mit.edu	37	1	158517164	158517164	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:158517164G>A	uc010pil.2	-	0	732	c.732C>T	c.(730-732)tcC>tcT	p.S244S		NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily Y, member 1 (OR6Y1), mRNA.	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					AGGCACAGGTGGAGAATGCCT	0.502000														38			19		0	0	0.000375601	0	0
CASR	846	broad.mit.edu	37	3	122003187	122003187	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:122003187A>T	uc003eew.4	+	6	2854	c.2416A>T	c.(2416-2418)Aag>Tag	p.K806*	CASR_uc003eev.4_Nonsense_Mutation_p.K796*	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	796			F -> S (in FIH; mild shift of the concentration-response curve to tne left but the change in EC(50) does not reach statistical significance).		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)	CAAGTCCCGGAAGCTGCCGGA	0.552000														30			11		0	0	0.000978159	0	0
C15orf2	23742	broad.mit.edu	37	15	24922593	24922593	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:24922593C>T	uc001ywo.3	+	0	2053	c.1579C>T	c.(1579-1581)Ctt>Ttt	p.L527F		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	527	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CCCTCCTCCTCTTTCCTTCCT	0.527000														103			47		0	0	0.000781405	0	0
MEI1	150365	broad.mit.edu	37	22	42128268	42128268	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr22:42128268G>A	uc003baz.1	+	9	1141	c.1116G>A	c.(1114-1116)agG>agA	p.R372R	bK250D10.C22.8_uc003bba.1_Intron|MEI1_uc003bay.3_Silent_p.R372R|MEI1_uc011apd.1_Non-coding_Transcript	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN	Homo sapiens meiosis inhibitor 1 (MEI1), mRNA.	372							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CAGTGGTGAGGAGCCTGCAGG	0.557000														9			6		0	0	0.00198382	0	0
RYR2	6262	broad.mit.edu	37	1	237969530	237969530	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:237969530G>A	uc001hyl.1	+	98	14365	c.14245G>A	c.(14245-14247)Gga>Aga	p.G4749R	RYR2_uc010pyb.1_Missense_Mutation_p.G182R	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	4749					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CATTGCTATGGGATTCAAGAC	0.383000														107			31		0	0	0.00058488	0	0
DNAH17	8632	broad.mit.edu	37	17	76526587	76526587	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:76526587G>A	uc010dhp.2	-	20	3247	c.3122C>T	c.(3121-3123)tCc>tTc	p.S1041F		NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CTTCTCGTAGGAGTCGATCTG	0.632000														51			111		0	0	0.000781405	0	0
CNTN4	152330	broad.mit.edu	37	3	3080684	3080684	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:3080684G>A	uc003bpc.3	+	18	2499	c.2160G>A	c.(2158-2160)tgG>tgA	p.W720*	CNTN4_uc003bpb.1_Nonsense_Mutation_p.W391*|CNTN4_uc021wsg.1_Nonsense_Mutation_p.W720*|CNTN4_uc003bpe.3_Nonsense_Mutation_p.W392*|CNTN4_uc003bpf.3_Nonsense_Mutation_p.W391*|CNTN4_uc003bpg.3_5'Flank	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	720	Fibronectin type-III 2.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TTATAACCTGGGAGGTAAATG	0.438000														46			20		0	0	0.00188189	0	0
POM121	9883	broad.mit.edu	37	7	72412766	72412766	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:72412766C>T	uc003twk.2	+	10	2234	c.2234C>T	c.(2233-2235)cCg>cTg	p.P745L	POM121_uc003twj.3_Missense_Mutation_p.P480L|POM121_uc010lam.1_Missense_Mutation_p.P480L	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	Homo sapiens POM121 membrane glycoprotein (POM121), mRNA.	745	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				GGCCCCACACCGCCTGGCCCT	0.632000														17			5		0	0	0.000978159	0	0
SLC6A9	6536	broad.mit.edu	37	1	44467191	44467191	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:44467191G>A	uc001cll.3	-	8	1482	c.1290C>T	c.(1288-1290)tcC>tcT	p.S430S	SLC6A9_uc009vxe.2_Silent_p.S286S|SLC6A9_uc010okm.1_Silent_p.S357S|SLC6A9_uc001clm.3_Silent_p.S376S|SLC6A9_uc009vxd.3_Non-coding_Transcript|SLC6A9_uc010okn.2_Silent_p.S361S|SLC6A9_uc010oko.2_Silent_p.S246S|SLC6A9_uc001cln.3_Silent_p.S357S|SLC6A9_uc010okp.1_Non-coding_Transcript	NM_201649	NP_964012	P48067	SC6A9_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 9 (SLC6A9), transcript variant 2, mRNA.	430						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	CTGCCACACGGGACACATCCA	0.592000														50			25		0	0	0.000720815	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144874762	144874762	+	Missense_Mutation	SNP	C	T	T	rs144570156		TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:144874762C>T	uc021ouh.1	-	29	5148	c.4846G>A	c.(4846-4848)Gaa>Aaa	p.E1616K	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.E1616K|PDE4DIP_uc001elx.4_Missense_Mutation_p.E1572K|PDE4DIP_uc001elv.4_Missense_Mutation_p.E623K	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	1616	NBPF.				cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GCTTCCAGTTCATCAGACAGG	0.562000			T	PDGFRB	MPD									280			52		0	0	0.000781405	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204394120	204394120	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:204394120G>A	uc001haw.3	-	33	5244	c.4765C>T	c.(4765-4767)Cag>Tag	p.Q1589*	PIK3C2B_uc010pqv.2_Nonsense_Mutation_p.Q1561*	NM_002646	NP_002637	O00750	P3C2B_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA.	1589	C2.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			ACGCTCAGCTGGAGCTCCCGC	0.572000														15			6		0	0	0.00198382	0	0
NUP188	23511	broad.mit.edu	37	9	131752415	131752415	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:131752415C>T	uc004bws.1	+	24	2572	c.2550C>T	c.(2548-2550)aaC>aaT	p.N850N	NUP188_uc004bwu.3_Silent_p.N193N	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	Homo sapiens nucleoporin 188kDa (NUP188), mRNA.	850					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						ATGGAAACAACCTCATTGCTG	0.458000														240			144		0	0	0.000781405	0	0
KDR	3791	broad.mit.edu	37	4	55972108	55972108	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:55972108C>T	uc003has.3	-	12	1839	c.1537_splice	c.e12-1	p.T513_splice	KDR_uc003hat.1_Splice_Site_p.T513_splice|KDR_uc011bzx.2_Splice_Site_p.T513_splice	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	513	Ig-like C2-type 5.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TACTTACAGTCTGTGCGGGGA	0.502000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				44			26		0	0	0.000720815	0	0
GALNT11	63917	broad.mit.edu	37	7	151818699	151818699	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:151818699G>A	uc010lqg.1	+	11	1994	c.1764G>A	c.(1762-1764)aaG>aaA	p.K588K	GALNT11_uc011kvm.1_Silent_p.K507K|GALNT11_uc003wku.2_Silent_p.K588K	NM_022087	NP_071370	Q8NCW6	GLT11_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11) (GALNT11), mRNA.	588	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		TGGGTCAGAAGGGCTCTGTCG	0.517000														38			24		0	0	0.000720815	0	0
LGMN	5641	broad.mit.edu	37	14	93183727	93183727	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:93183727C>A	uc001yav.3	-	4	677	c.316G>T	c.(316-318)Gag>Tag	p.E106*	LGMN_uc001yat.3_Nonsense_Mutation_p.E106*|LGMN_uc001yau.3_Nonsense_Mutation_p.E106*|LGMN_uc001yaw.3_Nonsense_Mutation_p.E106*	NM_001008530	NP_005597	Q99538	LGMN_HUMAN	Homo sapiens legumain (LGMN), transcript variant 2, mRNA.	106					hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		CCACTCACCTCTCCAGTGTAG	0.443000														63			41		9.58827e-17	4.42157e-16	0.000781405	1	0
TBC1D3P5	440419	broad.mit.edu	37	17	25757077	25757077	+	RNA	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:25757077G>A	uc021ttg.1	+	6		c.2374G>A			TBC1D3P5_uc002gzg.3_Non-coding_Transcript					Homo sapiens TBC1 domain family, member 3 pseudogene 5 (TBC1D3P5), non-coding RNA.																		TTCCTGCAGTGGAACTCTATG	0.627000														4			3		0	0	0.000602214	0	0
PPP1R13L	10848	broad.mit.edu	37	19	45885952	45885952	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:45885952C>T	uc002pbn.3	-	11	2358	c.2281G>A	c.(2281-2283)Ggg>Agg	p.G761R	PPP1R13L_uc002pbm.3_Missense_Mutation_p.G340R|PPP1R13L_uc002pbo.3_Missense_Mutation_p.G761R	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 13 like (PPP1R13L), transcript variant 2, mRNA.	761	SH3.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TACACTGCCCCGCTGTTCATC	0.672000														15			8		0	0	0.000442599	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12939710	12939710	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:12939710G>A	uc001aun.2	-	3	1163	c.1092C>T	c.(1090-1092)atC>atT	p.I364I		NM_001009611	NP_001009611	O60810	PRAM4_HUMAN	Homo sapiens PRAME family member 4 (PRAMEF4), mRNA.	364										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGGAGTCTATGATGCCACAGT	0.512000														154			102		0	0	0.000781405	0	0
EXPH5	23086	broad.mit.edu	37	11	108409798	108409798	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:108409798C>T	uc001pkk.3	-	2	507	c.396G>A	c.(394-396)agG>agA	p.R132R	EXPH5_uc010rvz.2_5'Flank|EXPH5_uc010rvy.2_5'Flank	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	132					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TTCCAGATTTCCTGAATGAGA	0.423000														90			48		0	0	0.000781405	0	0
RAD23A	5886	broad.mit.edu	37	19	13059911	13059912	+	Missense_Mutation	DNP	CC	TT	TT	rs139644856		TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:13059911_13059912CC>TT	uc002mvw.1	+	5	726_727	c.617_618CC>TT	c.(616-618)ccc>cTT	p.P206L	RAD23A_uc002mvz.1_Missense_Mutation_p.P206L|RAD23A_uc010xmw.1_Missense_Mutation_p.P41L	NM_005053	NP_005044	P54725	RD23A_HUMAN	Homo sapiens RAD23 homolog A (S. cerevisiae) (RAD23A), mRNA.	206					interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						CCTGGGAGCCCCGAGCCGGAAC	0.624000								Nucleotide excision repair (NER)						8			4		0	0	6.4e-05	0	0
GYPC	2995	broad.mit.edu	37	2	127453565	127453565	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:127453565C>T	uc002tnq.3	+	3	390	c.234C>T	c.(232-234)ttC>ttT	p.F78F	GYPC_uc002tnr.3_Silent_p.F59F|GYPC_uc010flv.3_Non-coding_Transcript	NM_002101	NP_002092	P04921	GLPC_HUMAN	Homo sapiens glycophorin C (Gerbich blood group) (GYPC), transcript variant 1, mRNA.	78						cortical cytoskeleton|integral to plasma membrane	protein binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|prostate(2)|urinary_tract(1)	13	Colorectal(110;0.0533)			BRCA - Breast invasive adenocarcinoma(221;0.075)		CCCTCCTCTTCGTCATGCTGC	0.612000														65			37		0	0	0.000781405	0	0
MUC16	94025	broad.mit.edu	37	19	9064305	9064305	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:9064305G>A	uc002mkp.3	-	2	23345	c.23141C>T	c.(23140-23142)cCc>cTc	p.P7714L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7716	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CACAGGAAGGGGAGAGGGGGG	0.537000														13			11		0	0	0.000978159	0	0
LNPEP	4012	broad.mit.edu	37	5	96315503	96315504	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:96315503_96315504CC>TT	uc003kmv.1	+	1	1195_1196	c.681_682CC>TT	c.(679-684)agccaa>agTTaa	p.Q228*	LNPEP_uc003kmw.1_Nonsense_Mutation_p.Q214*	NM_005575	NP_787116	Q9UIQ6	LCAP_HUMAN	Homo sapiens leucyl/cystinyl aminopeptidase (LNPEP), transcript variant 1, mRNA.	228					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		CAGTTTCAAGCCAAGAAAAACA	0.421000														9			9		0	0	6.4e-05	0	0
ZNF608	57507	broad.mit.edu	37	5	123983901	123983901	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:123983901C>T	uc003ktq.1	-	3	2359	c.2176G>A	c.(2176-2178)Gac>Aac	p.D726N	ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Missense_Mutation_p.D726N|ZNF608_uc003ktt.1_Missense_Mutation_p.D726N	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	Homo sapiens zinc finger protein 608 (ZNF608), mRNA.	726						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		AGGTTTTTGTCCGTTTTGCAG	0.473000														24			21		0	0	0.00121646	0	0
KLHL4	56062	broad.mit.edu	37	X	86890673	86890673	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:86890673G>A	uc004efa.2	+	8	2005	c.1823G>A	c.(1822-1824)gGa>gAa	p.G608E	KLHL4_uc004efb.2_Missense_Mutation_p.G608E	NM_057162	NP_476503	Q9C0H6	KLHL4_HUMAN	Homo sapiens kelch-like 4 (Drosophila) (KLHL4), transcript variant 2, mRNA.	608						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						AAAAGACGTGGAGGTGTGGGA	0.478000														5			21		0	0	0.00152264	0	0
DSG4	147409	broad.mit.edu	37	18	28980906	28980906	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr18:28980906A>G	uc002kwr.2	+	9	1475	c.1340A>G	c.(1339-1341)cAa>cGa	p.Q447R	DSG4_uc002kwq.2_Missense_Mutation_p.Q447R	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	447	Cadherin 4.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.Q447E(1)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GGTGAGATACAATTTTCTAGA	0.299000														51			36		0	0	0.00128727	0	0
ABCA3	21	broad.mit.edu	37	16	2376429	2376429	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:2376429C>T	uc002cpy.1	-	3	751	c.39G>A	c.(37-39)aaG>aaA	p.K13K	ABCA3_uc010bsk.1_Silent_p.K13K|ABCA3_uc010bsl.1_Silent_p.K13K|ABCA3_uc002cpz.1_Silent_p.K13K	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.	13					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				GGGTGTAGTTCTTCCAGAGGA	0.612000														9			7		0	0	0.000157383	0	0
TPP2	7174	broad.mit.edu	37	13	103301765	103301765	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr13:103301765A>G	uc001vpi.4	+	22	2984	c.2881A>G	c.(2881-2883)Aaa>Gaa	p.K961E		NM_003291	NP_003282	P29144	TPP2_HUMAN	Homo sapiens tripeptidyl peptidase II (TPP2), mRNA.	961					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TAGAATACCTAAAGGGGCAGG	0.348000														33			15		0	0	0.000422831	0	0
PTPRT	11122	broad.mit.edu	37	20	40980811	40980811	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:40980811C>T	uc002xkg.3	-	9	1859	c.1675G>A	c.(1675-1677)Ggg>Agg	p.G559R	PTPRT_uc010ggj.3_Missense_Mutation_p.G559R	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	559	Fibronectin type-III 3.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TAGGTGGTCCCTGGGTACAGA	0.562000														31			71		0	0	0.000781405	0	0
NOC2L	26155	broad.mit.edu	37	1	883570	883570	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:883570G>A	uc009vjq.3	-	13	1659	c.1600C>T	c.(1600-1602)Ctg>Ttg	p.L534L	NOC2L_uc001aby.4_Silent_p.L331L|NOC2L_uc001abz.4_Silent_p.L534L	NM_015658	NP_056473	Q9Y3T9	NOC2L_HUMAN	Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) (NOC2L), mRNA.	534						nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		TGGCTGTGCAGGTACTCCAGG	0.657000														9			4		0	0	0.00116845	0	0
TMEM63C	57156	broad.mit.edu	37	14	77718135	77718135	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:77718135C>T	uc001xtf.2	+	21	2254	c.2042C>T	c.(2041-2043)tCt>tTt	p.S681F	TMEM63C_uc010asq.1_Missense_Mutation_p.S681F	NM_020431	NP_065164	Q9P1W3	TM63C_HUMAN	Homo sapiens transmembrane protein 63C (TMEM63C), mRNA.	681						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		TCGGCAGGTTCTCTCCACGCC	0.572000														43			43		0	0	0.000781405	0	0
MRPS6	64968	broad.mit.edu	37	21	35514810	35514811	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr21:35514810_35514811CC>TT	uc002ytp.2	+	2	466_467	c.288_289CC>TT	c.(286-291)caccct>caTTct	p.P97S		NM_032476	NP_115865	P82932	RT06_HUMAN	Homo sapiens mitochondrial ribosomal protein S6 (MRPS6), nuclear gene encoding mitochondrial protein, mRNA.	97					translation	mitochondrion|small ribosomal subunit	rRNA binding|structural constituent of ribosome			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|pancreas(1)|skin(1)	6						TTGTCAAACACCCTCTGACCCA	0.436000														217			120		0	0	6.4e-05	0	0
DNAJC8	22826	broad.mit.edu	37	1	28537130	28537130	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:28537130G>A	uc001bpn.3	-	3	289	c.256C>T	c.(256-258)Cct>Tct	p.P86S	DNAJC8_uc001bpo.3_Non-coding_Transcript	NM_014280	NP_055095	O75937	DNJC8_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 8 (DNAJC8), mRNA.	86	J.				nuclear mRNA splicing, via spliceosome|protein folding	nucleoplasm	heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(3)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;4.08e-05)|all_lung(284;4.29e-05)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.0105)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		OV - Ovarian serous cystadenocarcinoma(117;2.81e-22)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00275)|BRCA - Breast invasive adenocarcinoma(304;0.0059)|STAD - Stomach adenocarcinoma(196;0.00671)|READ - Rectum adenocarcinoma(331;0.0649)		TTTTTGTCAGGATGCACCAAG	0.398000														98			64		0	0	0.000781405	0	0
GPR52	9293	broad.mit.edu	37	1	174418005	174418005	+	RNA	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:174418005C>T	uc010pmu.1	-	0		c.330G>A			RABGAP1L_uc001gjw.3_Intron|RABGAP1L_uc001gjx.3_Intron|RABGAP1L_uc001gjy.3_Intron|RABGAP1L_uc001gjz.3_Intron|GPR52_uc001gka.1_Silent_p.S252S			Q9Y2T5	GPR52_HUMAN	Synthetic construct Homo sapiens gateway clone IMAGE:100022628 3' read GPR52 mRNA.							integral to plasma membrane	G-protein coupled receptor activity			breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						TAGATTCTTCCAGAGAGACTG	0.438000														76			34		0	0	0.00058488	0	0
SERPINB12	89777	broad.mit.edu	37	18	61234240	61234240	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr18:61234240C>T	uc010xeo.2	+	6	1274	c.1274C>T	c.(1273-1275)cCt>cTt	p.P425L	SERPINB12_uc010xen.2_Missense_Mutation_p.P405L	NM_080474	NP_536722	Q96P63	SPB12_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 12 (SERPINB12), mRNA.	405					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						GTCTGCTCTCCTTAAAAGGGG	0.413000														41			21		0	0	0.00188189	0	0
CCR1	1230	broad.mit.edu	37	3	46245543	46245543	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:46245543G>A	uc003cph.1	-	1	333	c.262C>T	c.(262-264)Ccc>Tcc	p.P88S	CCR3_uc003cpg.2_Intron|CCR1_uc021wwy.1_Missense_Mutation_p.P88S	NM_001295	NP_001286	P32246	CCR1_HUMAN	Homo sapiens chemokine (C-C motif) receptor 1 (CCR1), mRNA.	88					G-protein signaling, coupled to cyclic nucleotide second messenger|cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		ATCCAGAAGGGAAGCGTGAAC	0.478000														46			51		0	0	0.000781405	0	0
OR10A5	144124	broad.mit.edu	37	11	6866924	6866924	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:6866924G>A	uc001met.1	+	0	11	c.11G>A	c.(10-12)gGa>gAa	p.G4E		NM_178168	NP_835462	Q9H207	O10A5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 5 (OR10A5), mRNA.	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ATGGCTATAGGAAACTGGACA	0.383000														68			46		0	0	0.000781405	0	0
XIRP2	129446	broad.mit.edu	37	2	168104863	168104863	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:168104863G>A	uc002udx.3	+	8	7050	c.6961G>A	c.(6961-6963)Gaa>Aaa	p.E2321K	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.E2146K|XIRP2_uc010fpq.3_Missense_Mutation_p.E2099K|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2146					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GATGTTTCCTGAAAAAAATGG	0.468000														32			14		0	0	0.00074312	0	0
MTTP	4547	broad.mit.edu	37	4	100532325	100532325	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:100532325G>A	uc011cej.2	+	12	1889	c.1876G>A	c.(1876-1878)Gaa>Aaa	p.E626K	MTTP_uc003hvc.4_Missense_Mutation_p.E599K	NM_000253	NP_000244	P55157	MTP_HUMAN	Homo sapiens microsomal triglyceride transfer protein (MTTP), mRNA.	599	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	p.R626C(1)|p.R626S(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	AGTTCTGAAGGAAATGGTCGC	0.398000														32			37		0	0	0.000589545	0	0
MGAM	8972	broad.mit.edu	37	7	141730237	141730237	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:141730237T>C	uc003vwy.3	+	10	1351	c.1297T>C	c.(1297-1299)Ttc>Ctc	p.F433L		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	433	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTTTAAAGGCTTCCCTGAATT	0.388000														17			6		0	0	0.000157383	0	0
HS3ST2	9956	broad.mit.edu	37	16	22926467	22926467	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:22926467G>A	uc002dli.3	+	1	760	c.688G>A	c.(688-690)Ggc>Agc	p.G230S		NM_006043	NP_006034	Q9Y278	HS3S2_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 2 (HS3ST2), mRNA.	230						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		GACCTTTGAGGGCCTCTCCTT	0.602000														50			35		0	0	0.00195071	0	0
SEC16B	89866	broad.mit.edu	37	1	177906553	177906553	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:177906553G>A	uc001glj.1	-	23	3168	c.2302C>T	c.(2302-2304)Ctg>Ttg	p.L768L	SEC16B_uc001glk.1_Silent_p.L444L|SEC16B_uc009wwy.1_Silent_p.L322L|SEC16B_uc001glh.1_Silent_p.L426L|SEC16B_uc001gli.1_Silent_p.L767L|SEC16B_uc009wwz.1_Silent_p.L426L	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN	Homo sapiens SEC16 homolog B (S. cerevisiae) (SEC16B), mRNA.	767					protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane		p.L768L(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GGCTGGAGCAGGCAGGTCTGC	0.602000														16			4		0	0	0.00024832	0	0
CRELD2	79174	broad.mit.edu	37	22	50313429	50313429	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr22:50313429C>T	uc010hal.2	+	2	399	c.264C>T	c.(262-264)ttC>ttT	p.F88F	ALG12_uc003biy.3_5'Flank|CRELD2_uc003biz.3_Silent_p.F88F|CRELD2_uc010haj.3_Silent_p.F88F|CRELD2_uc003bja.2_Silent_p.F88F|CRELD2_uc010hak.2_Silent_p.F88F|CRELD2_uc010ham.2_Silent_p.F88F	NM_001135101	NP_001128573	Q6UXH1	CREL2_HUMAN	Homo sapiens cysteine-rich with EGF-like domains 2 (CRELD2), transcript variant 1, mRNA.	88						endoplasmic reticulum|extracellular region	calcium ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3)	9		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)		GCAGCGACTTCGAATGCAATC	0.572000														26			10		0	0	0.00136819	0	0
NLRP7	199713	broad.mit.edu	37	19	55447723	55447723	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:55447723G>A	uc002qih.4	-	5	2282	c.2206C>T	c.(2206-2208)Ctg>Ttg	p.L736L	NLRP7_uc010esk.3_Silent_p.L736L|NLRP7_uc002qig.4_Silent_p.L708L|NLRP7_uc002qii.4_Silent_p.L736L|NLRP7_uc010esl.3_Silent_p.L764L	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	736							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GCCAGGGTCAGGTGCGTGAGG	0.527000														36			19		0	0	0.00074312	0	0
CDX1	1044	broad.mit.edu	37	5	149563195	149563195	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:149563195C>T	uc003lrq.3	+	2	846	c.750C>T	c.(748-750)ctC>ctT	p.L250L		NM_001804	NP_001795	P47902	CDX1_HUMAN	Homo sapiens caudal type homeobox 1 (CDX1), mRNA.	250						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|lung(1)|ovary(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACACCAGCCTCCTGGCCACCT	0.682000														13			6		0	0	0.000157383	0	0
VPS25	84313	broad.mit.edu	37	17	40926710	40926710	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:40926710G>A	uc002ibi.3	+	2	286	c.246G>A	c.(244-246)agG>agA	p.R82R		NM_032353	NP_115729	Q9BRG1	VPS25_HUMAN	Homo sapiens vacuolar protein sorting 25 homolog (S. cerevisiae) (VPS25), mRNA.	82					cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endosome membrane|nucleoplasm				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)	5		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		AGGAACTGAGGAAGAAAGGTG	0.398000														28			21		0	0	0.000375601	0	0
SULT6B1	391365	broad.mit.edu	37	2	37415630	37415630	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:37415630C>T	uc002rpu.3	-	0	61	c.40G>A	c.(40-42)Gaa>Aaa	p.E14K	SULT6B1_uc010yni.2_Non-coding_Transcript|SULT6B1_uc002rpv.3_Non-coding_Transcript|SULT6B1_uc010fae.2_Non-coding_Transcript|SULT6B1_uc010faf.2_Non-coding_Transcript|SULT6B1_uc002rpw.3_Non-coding_Transcript|SULT6B1_uc010fag.2_Non-coding_Transcript	NM_001032377	NP_001027549	Q6IMI4	ST6B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 6B, member 1 (SULT6B1), mRNA.	52						cytoplasm	sulfotransferase activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				TGTCTGGCTTCGAAGGTGTCC	0.448000														58			35		0	0	0.00195071	0	0
CD300A	11314	broad.mit.edu	37	17	72469840	72469840	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:72469840G>A	uc002jkv.3	+	1	527	c.206G>A	c.(205-207)gGa>gAa	p.G69E	CD300A_uc002jkw.3_Intron|CD300A_uc010dfr.3_Intron|CD300A_uc010dfs.3_Intron	NM_007261	NP_009192	Q9UGN4	CLM8_HUMAN	Homo sapiens CD300a molecule (CD300A), mRNA.	69	Ig-like V-type.				cell adhesion	integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						GGGTCAGCAGGAAAAAGGAAC	0.517000														35			42		0	0	0.000589545	0	0
OBSCN	84033	broad.mit.edu	37	1	228565642	228565642	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:228565642C>T	uc009xez.1	+	102	23558	c.23514C>T	c.(23512-23514)ctC>ctT	p.L7838L	OBSCN_uc001hsr.1_Silent_p.L2467L	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	7838	Protein kinase 2.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTCCAGAGCTCCTGGAGGGCC	0.622000														33			10		0	0	0.00136819	0	0
CPT1B	1375	broad.mit.edu	37	22	51011432	51011433	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr22:51011432_51011433GG>AA	uc003bmm.3	-	10	1322_1323	c.1223_1224CC>TT	c.(1222-1224)gcc>gTT	p.A408V	CPT1B_uc003bmk.4_Missense_Mutation_p.A408V|CPT1B_uc003bml.3_Missense_Mutation_p.A408V|CPT1B_uc003bmo.3_Missense_Mutation_p.A408V|CPT1B_uc011asa.2_Missense_Mutation_p.A374V|CPT1B_uc003bmn.3_Missense_Mutation_p.A408V|CPT1B_uc011asb.2_Intron|CPT1B_uc003bmp.3_Missense_Mutation_p.A205V|CPT1B_uc021wsc.1_Non-coding_Transcript	NM_004377	NP_689452	Q92523	CPT1B_HUMAN	Homo sapiens carnitine palmitoyltransferase 1B (muscle) (CPT1B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	408					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		TGGCCTCCAAGGCAGCCTTATT	0.599000														38			22		0	0	6.4e-05	0	0
MEFV	4210	broad.mit.edu	37	16	3294267	3294267	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:3294267C>T	uc002cun.1	-	7	1786	c.1746G>A	c.(1744-1746)atG>atA	p.M582I	MEFV_uc021tbw.1_Missense_Mutation_p.M371I|MEFV_uc021tbx.1_Missense_Mutation_p.M162I|MEFV_uc021tby.1_Missense_Mutation_p.M85I|MEFV_uc021tbz.1_Missense_Mutation_p.M1I|MEFV_uc021tca.1_Intron|MEFV_uc021tcb.1_Intron	NM_000243	NP_000234	O15553	MEFV_HUMAN	Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA.	582	B30.2/SPRY.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	TGAACATTTCCATTTCTGAAC	0.517000														24			17		0	0	0.00188189	0	0
H6PD	9563	broad.mit.edu	37	1	9324773	9324773	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:9324773A>T	uc001apt.3	+	4	2494	c.2221A>T	c.(2221-2223)Aag>Tag	p.K741*		NM_004285	NP_004276	O95479	G6PE_HUMAN	Homo sapiens hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) (H6PD), mRNA.	741	6-phosphogluconolactonase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|NADP binding|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	CCGCGCCAAGAAGGTGGCAGT	0.647000														20			10		0	0	0.00136819	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559641	140559641	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:140559641G>A	uc011dai.2	+	0	2271	c.2026G>A	c.(2026-2028)Gag>Aag	p.E676K	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	676					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)			GCCGCTTCCGGAGGCTGCCCC	0.667000														45			39		0	0	0.00148497	0	0
OLFML2B	25903	broad.mit.edu	37	1	161993142	161993142	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:161993142C>T	uc010pkq.2	-	0	503	c.79G>A	c.(79-81)Ggg>Agg	p.G27R	OLFML2B_uc001gbu.3_Missense_Mutation_p.G27R	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	Homo sapiens olfactomedin-like 2B (OLFML2B), mRNA.	27										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			TCGCTTGTCCCTGTGAGGACA	0.592000														29			40		0	0	0.00222228	0	0
GRIK5	2901	broad.mit.edu	37	19	42525574	42525574	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:42525574G>A	uc002osj.1	-	13	1785	c.1750C>T	c.(1750-1752)Cac>Tac	p.H584Y	GRIK5_uc002osi.1_Missense_Mutation_p.H156Y|GRIK5_uc010eib.1_Missense_Mutation_p.H503Y	NM_002088	NP_002079	Q16478	GRIK5_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 5 (GRIK5), mRNA.	584						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	TCCAGGATGTGGGGGCGTGCC	0.657000														13			9		0	0	0.000442599	0	0
CYP3A7	1551	broad.mit.edu	37	7	99308459	99308459	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:99308459C>T	uc003uru.3	-	9	1025	c.922G>A	c.(922-924)Gaa>Aaa	p.E308K	ZNF498_uc003urn.3_Intron|CYP3A7_uc003urs.3_Intron|CYP3A7_uc010lgg.3_Intron	NM_000765	NP_000756	P24462	CP3A7_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 7 (CYP3A7), mRNA.	308					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					CTCGTGGTTTCATAGCCAGCA	0.408000														15			16		0	0	0.00074312	0	0
NEU2	4759	broad.mit.edu	37	2	233899231	233899231	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:233899231G>A	uc010zmn.2	+	1	607	c.607G>A	c.(607-609)Ggg>Agg	p.G203R		NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN	Homo sapiens sialidase 2 (cytosolic sialidase) (NEU2), mRNA.	203							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)		CCATGACCATGGGCGCACGTG	0.667000														29			20		0	0	0.00188189	0	0
ZNF808	388558	broad.mit.edu	37	19	53058004	53058004	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:53058004C>T	uc010epq.1	+	4	2012	c.1835C>T	c.(1834-1836)tCa>tTa	p.S612L	ZNF808_uc002pzq.2_Non-coding_Transcript|ZNF808_uc010epr.2_5'Flank	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN	Homo sapiens zinc finger protein 808 (ZNF808), mRNA.	612					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		GCTCTTGAGTCACATAAGAGA	0.408000														39			25		0	0	0.00047179	0	0
STON2	85439	broad.mit.edu	37	14	81743422	81743422	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:81743422C>T	uc010tvu.2	-	3	2431	c.2233G>A	c.(2233-2235)Gaa>Aaa	p.E745K	STON2_uc001xvk.1_Missense_Mutation_p.E745K|STON2_uc010tvt.2_Missense_Mutation_p.E542K	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA.	745	MHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		AGGACACTTTCCCTGCGGAAG	0.532000														56			32		0	0	0.000491102	0	0
LIPI	149998	broad.mit.edu	37	21	15538721	15538721	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr21:15538721C>T	uc002yjm.3	-	4	768	c.758G>A	c.(757-759)gGa>gAa	p.G253E	LIPI_uc021whg.1_Non-coding_Transcript|LIPI_uc010gkw.2_Intron|LIPI_uc021whh.1_Missense_Mutation_p.G232E|LIPI_uc021whi.1_Missense_Mutation_p.G67E|LIPI_uc021whj.1_Missense_Mutation_p.G232E|LIPI_uc021whe.1_Missense_Mutation_p.G232E|LIPI_uc021whf.1_Missense_Mutation_p.G232E	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN	Homo sapiens lipase, member I (LIPI), mRNA.	232					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	p.G253E(4)		endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TTGTTTATTTCCTCCATTTGG	0.343000														57			27		0	0	0.0024448	0	0
ERG	2078	broad.mit.edu	37	21	39817365	39817365	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr21:39817365G>A	uc010gnw.3	-	3	514	c.219C>T	c.(217-219)atC>atT	p.I73I	ERG_uc021wjd.1_Silent_p.I73I|ERG_uc002yxa.3_Silent_p.I66I|ERG_uc011aek.2_Intron|ERG_uc010gnv.3_Intron|ERG_uc010gnx.3_Silent_p.I73I|ERG_uc011ael.2_Silent_p.I73I|ERG_uc002yxb.3_Silent_p.I73I|ERG_uc011aem.1_Silent_p.I66I|ERG_uc002yxc.4_Silent_p.I73I	NM_001243428	NP_001230357	P11308	ERG_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog (avian) (ERG), transcript variant 5, mRNA.	73					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				ATTCCATTTTGATGGTGACCC	0.552000			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""									24			12		0	0	0.000566183	0	0
CLTCL1	8218	broad.mit.edu	37	22	19203733	19203733	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr22:19203733G>A	uc021wle.1	-	18	3028	c.2953C>T	c.(2953-2955)Cct>Tct	p.P985S	CLTCL1_uc021wld.1_Missense_Mutation_p.P985S|CLTCL1_uc021wlc.1_Missense_Mutation_p.P985S|CLTCL1_uc021wlf.1_Missense_Mutation_p.P985S|CLTCL1_uc011agw.1_Missense_Mutation_p.P985S|CLTCL1_uc002zpd.1_5'Flank|CLTCL1_uc002zpe.2_5'Flank	NM_007098	NP_009029	P53675	CLH2_HUMAN	Homo sapiens clathrin, heavy chain-like 1 (CLTCL1), transcript variant 1, mRNA.	985	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					ATCTCTTCAGGATCCCGTGTT	0.398000			T	?	ALCL									35			25		0	0	0.00178596	0	0
IL17REL	400935	broad.mit.edu	37	22	50436709	50436709	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr22:50436709T>G	uc003bje.1	-	9	863	c.631A>C	c.(631-633)Acg>Ccg	p.T211P		NM_001001694	NP_001001694	Q6ZVW7	I17EL_HUMAN	Homo sapiens interleukin 17 receptor E-like (IL17REL), mRNA.	211										endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		TAGTAGACCGTGTCCCACAGC	0.682000														19			12		0	0	0.00136819	0	0
FAT4	79633	broad.mit.edu	37	4	126238442	126238442	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:126238442G>A	uc003ifj.4	+	0	876	c.876G>A	c.(874-876)gaG>gaA	p.E292E		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	292	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGCAGGACGAGGGGACCCCCT	0.667000											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		19			18		0	0	0.000566183	0	0
SH3GL1	6455	broad.mit.edu	37	19	4363800	4363800	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:4363800C>T	uc002maj.3	-	5	741	c.541G>A	c.(541-543)Gag>Aag	p.E181K	SH3GL1_uc002mak.3_Missense_Mutation_p.E117K|SH3GL1_uc010xig.2_Missense_Mutation_p.E133K	NM_003025	NP_003016	Q99961	SH3G1_HUMAN	Homo sapiens SH3-domain GRB2-like 1 (SH3GL1), transcript variant 1, mRNA.	181	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		CGTAGCTCCTCATCGGGGATC	0.602000			T	MLL	AL									41			31		0	0	0.0024448	0	0
GLDC	2731	broad.mit.edu	37	9	6534758	6534758	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:6534758A>G	uc003zkc.3	-	23	3062	c.2869T>C	c.(2869-2871)Tct>Cct	p.S957P		NM_000170	NP_000161	P23378	GCSP_HUMAN	Homo sapiens glycine dehydrogenase (decarboxylating) (GLDC), nuclear gene encoding mitochondrial protein, mRNA.	957					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CAGTGGGAAGATGTAACGCAG	0.557000														22			12		0	0	0.000219431	0	0
ABCC3	8714	broad.mit.edu	37	17	48761431	48761431	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:48761431T>G	uc002isl.3	+	27	4156	c.4076T>G	c.(4075-4077)cTc>cGc	p.L1359R	ABCC3_uc002isn.3_Missense_Mutation_p.L113R	NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	1359	ABC transporter 2.			L -> F (in Ref. 11; AAB71756).	bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	GACATCGGCCTCCATGACCTG	0.617000														34			14		0	0	0.000422831	0	0
NLRP9	338321	broad.mit.edu	37	19	56244125	56244125	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:56244125C>T	uc002qly.3	-	1	1100	c.1072G>A	c.(1072-1074)Gaa>Aaa	p.E358K		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	358	NACHT.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GAGTTTATTTCAAGGTCTTCT	0.438000														59			36		0	0	0.00148497	0	0
STK39	27347	broad.mit.edu	37	2	168931712	168931712	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:168931712G>A	uc002uea.3	-	10	1279	c.1119C>T	c.(1117-1119)caC>caT	p.H373H		NM_013233	NP_037365	Q9UEW8	STK39_HUMAN	Homo sapiens serine threonine kinase 39 (STK39), mRNA.	373					response to stress	cytoplasm|nucleus	ATP binding|protein binding|receptor signaling protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	13						TTTTATGAAGGTGACCACTTG	0.463000														56			55		0	0	0.000781405	0	0
ST3GAL5	8869	broad.mit.edu	37	2	86075167	86075167	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:86075167G>A	uc002sqq.1	-	3	608	c.479C>T	c.(478-480)cCt>cTt	p.P160L	ST3GAL5_uc010fgq.1_Missense_Mutation_p.P32L|ST3GAL5_uc002sqp.1_Missense_Mutation_p.P137L	NM_003896	NP_003887	Q9UNP4	SIAT9_HUMAN	Homo sapiens ST3 beta-galactoside alpha-2,3-sialyltransferase 5 (ST3GAL5), transcript variant 1, mRNA.	160					ganglioside biosynthetic process|protein glycosylation	integral to Golgi membrane|integral to plasma membrane	lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						CCCAAAAGGAGGATCGTACTT	0.512000														106			68		0	0	0.000781405	0	0
ZNF697	90874	broad.mit.edu	37	1	120166578	120166578	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:120166578C>T	uc001ehy.1	-	2	502	c.388G>A	c.(388-390)Gag>Aag	p.E130K		NM_001080470	NP_001073939	Q5TEC3	ZN697_HUMAN	Homo sapiens zinc finger protein 697 (ZNF697), mRNA.	130	Poly-Glu.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		TCTTCCTCCTCCAGCCGGTTC	0.652000														5			9		0	0	0.000274275	0	0
RPS27	6232	broad.mit.edu	37	1	153963239	153963239	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:153963239C>T	uc001fdv.3	+	1	1	c.-33_splice	c.e1-1			NM_001030	NP_001021	P42677	RS27_HUMAN	Homo sapiens ribosomal protein S27 (RPS27), mRNA.						cell proliferation|endocrine pancreas development|mitotic prometaphase|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus	DNA binding|structural constituent of ribosome|zinc ion binding			kidney(1)	1	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCTTTCGCTCCTTTCCGGCGG	0.537000														54			14		0	0	0.000308642	0	0
C19orf21	126353	broad.mit.edu	37	19	757331	757331	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:757331G>A	uc002lpo.3	+	1	468	c.385G>A	c.(385-387)Ggg>Agg	p.G129R		NM_173481	NP_775752	Q8IVT2	CS021_HUMAN	Homo sapiens chromosome 19 open reading frame 21 (C19orf21), mRNA.	129										breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGGATGCTGGGGACGCTGA	0.687000														10			14		0	0	0.000308642	0	0
PTTG2	10744	broad.mit.edu	37	4	37962083	37962083	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:37962083G>A	uc011bye.2	+	0	28	c.28G>A	c.(28-30)Gaa>Aaa	p.E10K	TBC1D1_uc003gtb.3_Intron|TBC1D1_uc011byd.2_Intron|TBC1D1_uc010ifd.3_Intron	NM_006607	NP_006598	Q9NZH5	PTTG2_HUMAN	Homo sapiens pituitary tumor-transforming 2 (PTTG2), mRNA.	10					DNA metabolic process|chromosome organization	cytoplasm|nucleus	SH3 domain binding			breast(1)|endometrium(1)|lung(4)|skin(1)	7						CGTTGATAAGGAAATTGGAGA	0.438000														28			10		0	0	0.000673444	0	0
ACACB	32	broad.mit.edu	37	12	109660704	109660704	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:109660704C>T	uc001tob.3	+	25	3898	c.3779C>T	c.(3778-3780)cCc>cTc	p.P1260L	ACACB_uc001toc.3_Missense_Mutation_p.P1260L	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	1260					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	CAGTTCTGCCCCGAGAACCTC	0.602000														13			5		0	0	0.000602214	0	0
ARHGAP27	201176	broad.mit.edu	37	17	43474304	43474304	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:43474304C>T	uc002iix.3	-	10	1355	c.906G>A	c.(904-906)gaG>gaA	p.E302E	ARHGAP27_uc010dak.3_Silent_p.E275E	NM_199282	NP_954976	Q6ZUM4	RHG27_HUMAN	Homo sapiens Rho GTPase activating protein 27 (ARHGAP27), transcript variant 1, mRNA.	643	WW 2.				positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					GCGCGTCCTCCTCTTTCTCCT	0.667000														36			53		0	0	0.000781405	0	0
TTLL9	164395	broad.mit.edu	37	20	30527068	30527068	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:30527068C>T	uc010gdx.1	+	14	1496	c.1243_splice	c.e14+1	p.G415_splice	TTLL9_uc002wwy.1_Splice_Site|TTLL9_uc002wwz.1_Intron|TTLL9_uc002wxa.1_Splice_Site|TTLL9_uc002wxb.1_Splice_Site|TTLL9_uc010zto.1_Splice_Site|TTLL9_uc002wxc.2_Splice_Site_p.G317_splice|TTLL9_uc010ztp.1_Intron|TTLL9_uc010ztq.1_Splice_Site	NM_001008409	NP_001008409	Q3SXZ7	TTLL9_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 9 (TTLL9), mRNA.	415					protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			ACACACATCTCGGTATGTAGG	0.552000														19			40		0	0	0.00148497	0	0
RACGAP1P	83956	broad.mit.edu	37	12	45458398	45458398	+	RNA	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:45458398C>T	uc001rol.3	-	0		c.797G>A								Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA.																		TACCTGTTTTCCTTTGGCTCC	0.522000														11			7		0	0	0.000157383	0	0
FRG1B	284802	broad.mit.edu	37	20	29625941	29625941	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:29625941A>T	uc010ztl.1	+	1	127	c.95A>T	c.(94-96)gAt>gTt	p.D32V	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Intron					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.D62V(2)|p.A32T(1)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGCATTCAGATGCAATTGGA	0.333000														76			6		0	0	0.00198382	0	0
LIMK1	3984	broad.mit.edu	37	7	73513455	73513455	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:73513455G>A	uc003uaa.2	+	4	709	c.495G>A	c.(493-495)ctG>ctA	p.L165L	LIMK1_uc010lbl.2_Non-coding_Transcript|LIMK1_uc003uab.3_Silent_p.L131L|LIMK1_uc003uac.1_5'UTR	NM_002314	NP_002305	P53667	LIMK1_HUMAN	Homo sapiens LIM domain kinase 1 (LIMK1), transcript variant 1, mRNA.	165	PDZ.				Rho protein signal transduction|actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)				CCGTCACCCTGGTGTCCATCC	0.647000														60			41		0	0	0.000589545	0	0
RELN	5649	broad.mit.edu	37	7	103294589	103294589	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:103294589C>T	uc022ajr.1	-	12	1665	c.1505G>A	c.(1504-1506)gGa>gAa	p.G502E	RELN_uc022ajq.1_Missense_Mutation_p.G502E|RELN_uc010liz.3_Missense_Mutation_p.G502E	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	502					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTCTTTTCTTCCTTCAATTTT	0.398000														26			9		0	0	0.000978159	0	0
RPLP0P2	113157	broad.mit.edu	37	11	61405065	61405065	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:61405065C>G	uc001nrz.1	+	4	1669	c.914C>G	c.(913-915)tCg>tGg	p.S305W						Homo sapiens ribosomal protein, large, P0 pseudogene 2 (RPLP0P2), non-coding RNA.																		AAGGAAGAGTCGGAGGGAGGA	0.522000														39			19		0	0	0.00152264	0	0
SPDYE6	729597	broad.mit.edu	37	7	101989010	101989010	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:101989010C>A	uc011kkp.2	-	5	1284	c.863G>T	c.(862-864)tGg>tTg	p.W288L	DQ601342_uc022aje.1_5'Flank	NM_001146210	NP_001139682	P0CI01	SPDE6_HUMAN	Homo sapiens speedy homolog E6 (Xenopus laevis) (SPDYE6), mRNA.	288	Arg-rich.																TAACTGGAACCAACGCTTACG	0.537000														824			18		0.000422831	0.00192616	0.000422831	1	0
FBXL7	23194	broad.mit.edu	37	5	15928140	15928140	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:15928140C>T	uc003jfn.1	+	2	750	c.269C>T	c.(268-270)tCc>tTc	p.S90F		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 7 (FBXL7), mRNA.	90					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						ATGGTGCACTCCCCGCCCCCG	0.657000														11			4		0	0	0.000602214	0	0
DOCK2	1794	broad.mit.edu	37	5	169508871	169508871	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:169508871C>T	uc003maf.3	+	50	5393	c.5313C>T	c.(5311-5313)atC>atT	p.I1771I	DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Silent_p.I1263I|DOCK2_uc003mah.3_Silent_p.I327I	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	1771					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)			TGGCAGGCATCCCTGGGTTGG	0.602000														26			14		0	0	0.000308642	0	0
NPY5R	4889	broad.mit.edu	37	4	164272452	164272452	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:164272452G>A	uc003iqn.3	+	3	1209	c.1027G>A	c.(1027-1029)Gaa>Aaa	p.E343K	NPY5R_uc021xtw.1_Missense_Mutation_p.E343K	NM_006174	NP_006165	Q15761	NPY5R_HUMAN	Homo sapiens neuropeptide Y receptor Y5 (NPY5R), mRNA.	343					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				AAAACCTGAAGAAAATTCAGA	0.373000														26			19		0	0	0.00074312	0	0
SETD2	29072	broad.mit.edu	37	3	47163851	47163851	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:47163851T>C	uc003cqv.3	-	2	2328	c.2242A>G	c.(2242-2244)Aaa>Gaa	p.K748E	SETD2_uc003cqs.3_Missense_Mutation_p.K759E	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	Homo sapiens SET domain containing 2 (SETD2), mRNA.	759					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GACATGAGTTTATCTTGGTGT	0.403000			"""N, F, S, Mis"""		clear cell renal carcinoma									101			63		0	0	0.000781405	0	0
TMPPE	643853	broad.mit.edu	37	3	33135664	33135664	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:33135664G>A	uc003cfk.2	-	1	236	c.24C>T	c.(22-24)tcC>tcT	p.S8S	GLB1_uc003cfh.1_Intron|GLB1_uc003cfi.1_Intron|GLB1_uc003cfj.1_Intron|GLB1_uc011axk.1_Intron|TMPPE_uc011axl.1_Intron|TMPPE_uc021wux.1_Silent_p.S8S	NM_001039770	NP_001129710	Q6ZT21	TMPPE_HUMAN	Homo sapiens transmembrane protein with metallophosphoesterase domain (TMPPE), transcript variant 1, mRNA.	8						integral to membrane	metal ion binding			breast(1)|large_intestine(5)|lung(6)|prostate(1)	13						TCGCGCCTAGGGACAGCTGCC	0.577000														54			29		0	0	0.00058488	0	0
VPS13B	157680	broad.mit.edu	37	8	100844872	100844872	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr8:100844872C>T	uc003yiv.3	+	51	9792	c.9681C>T	c.(9679-9681)ttC>ttT	p.F3227F	VPS13B_uc003yiw.3_Silent_p.F3202F	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	3227					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AAAATGGATTCTGTACCAGGT	0.463000														27			17		0	0	0.000958276	0	0
SETBP1	26040	broad.mit.edu	37	18	42532080	42532080	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr18:42532080C>A	uc010dni.3	+	3	3071	c.2775C>A	c.(2773-2775)gaC>gaA	p.D925E		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	925						nucleus	DNA binding	p.E925K(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TCATTGTGGACAACTTTCTGG	0.542000									Schinzel-Giedion syndrome					35			20		3.62473e-10	1.6655e-09	0.00188189	1	0
MYBPC1	4604	broad.mit.edu	37	12	102057335	102057335	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:102057335G>A	uc001tii.3	+	19	2418	c.2278G>A	c.(2278-2280)Gga>Aga	p.G760R	MYBPC1_uc001tig.3_Missense_Mutation_p.G785R|MYBPC1_uc010svr.2_Missense_Mutation_p.G760R|MYBPC1_uc010svs.2_Missense_Mutation_p.G760R|MYBPC1_uc001tij.3_Missense_Mutation_p.G760R|MYBPC1_uc010svt.2_Missense_Mutation_p.G748R|MYBPC1_uc010svu.2_Missense_Mutation_p.G741R|MYBPC1_uc001tik.3_Missense_Mutation_p.G734R|MYBPC1_uc001tih.3_Missense_Mutation_p.G785R|MYBPC1_uc010svq.2_Missense_Mutation_p.G747R|MYBPC1_uc001til.3_5'Flank	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	Homo sapiens myosin binding protein C, slow type (MYBPC1), transcript variant 3, mRNA.	760	Fibronectin type-III 2.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	p.T760T(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						TTGCTTTGAAGGAAGTAAGTA	0.463000														11			12		0	0	0.00136819	0	0
SYT3	84258	broad.mit.edu	37	19	51132596	51132596	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:51132596C>T	uc002pst.3	-	3	1870	c.1236G>A	c.(1234-1236)caG>caA	p.Q412Q	SYT3_uc002psv.3_Silent_p.Q412Q|SYT3_uc010ycd.2_Silent_p.Q412Q	NM_032298	NP_115674	Q9BQG1	SYT3_HUMAN	Homo sapiens synaptotagmin III (SYT3), transcript variant 1, mRNA.	412						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)		GGTCAGGGGGCTGCTCGGCCA	0.672000														13			4		0	0	0.00024832	0	0
NYNRIN	57523	broad.mit.edu	37	14	24883901	24883901	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:24883901C>T	uc001wpf.4	+	8	3264	c.2946C>T	c.(2944-2946)ccC>ccT	p.P982P		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	982					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						ACTCTGGGCCCCTGGAGAGTC	0.582000														10			5		0	0	0.000602214	0	0
HTR1A	3350	broad.mit.edu	37	5	63256578	63256578	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:63256578C>T	uc011cqt.2	-	0	969	c.969G>A	c.(967-969)agG>agA	p.R323R		NM_000524	NP_000515	P08908	5HT1A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1A (HTR1A), mRNA.	323					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	GCTCATTTTTCCTCTCGAAAG	0.607000														36			20		0	0	0.00152264	0	0
HSPA12B	116835	broad.mit.edu	37	20	3726646	3726646	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:3726646G>A	uc002wjd.3	+	6	785	c.643G>A	c.(643-645)Gcc>Acc	p.A215T	HSPA12B_uc010zqj.2_Missense_Mutation_p.A49T|HSPA12B_uc010zqi.2_Missense_Mutation_p.A214T|HSPA12B_uc002wje.3_Missense_Mutation_p.A128T	NM_052970	NP_443202	Q96MM6	HS12B_HUMAN	Homo sapiens heat shock 70kD protein 12B (HSPA12B), transcript variant 1, mRNA.	215							ATP binding	p.A215S(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						GAAACAGCCAGCCAAGCAGTT	0.642000														28			20		0	0	0.000375601	0	0
ARID2	196528	broad.mit.edu	37	12	46298733	46298733	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:46298733G>T	uc001ros.1	+	20	5380	c.5380G>T	c.(5380-5382)Gaa>Taa	p.E1794*	ARID2_uc009zkg.1_Nonsense_Mutation_p.E1250*|ARID2_uc009zkh.1_Nonsense_Mutation_p.E1421*|ARID2_uc001rou.1_3'UTR	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	1794					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AAAGAGACATGAAAATAACTT	0.348000			"""N, S, F"""		hepatocellular carcinoma									25			26		7.26314e-15	3.34451e-14	0.00127121	1	0
UBE2S	27338	broad.mit.edu	37	19	55913070	55913071	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:55913070_55913071GG>AT	uc002qkx.1	-	3	770_771	c.402_403CC>AT	c.(400-405)ggccgc>ggATgc	p.R135C		NM_014501	NP_055316	Q16763	UBE2S_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2S (UBE2S), mRNA.	135					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|exit from mitosis|free ubiquitin chain polymerization|protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination	anaphase-promoting complex	ATP binding|ubiquitin-protein ligase activity			lung(1)	1	Breast(117;0.155)		LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.11)		AAGAGCAGGCGGCCCGCCTCCT	0.673000														28			14		0	0	6.4e-05	0	0
ZIC2	7546	broad.mit.edu	37	13	100637612	100637612	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr13:100637612C>T	uc001von.3	+	2	1568	c.1275C>T	c.(1273-1275)tcC>tcT	p.S425S		NM_007129	NP_009060	O95409	ZIC2_HUMAN	Homo sapiens Zic family member 2 (ZIC2), mRNA.	425					brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CTGAATCCTCCCCGGCCGCCA	0.711000														21			7		0	0	0.000157383	0	0
PLCL1	5334	broad.mit.edu	37	2	198950623	198950623	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:198950623C>T	uc010fsp.3	+	1	2780	c.2382C>T	c.(2380-2382)atC>atT	p.I794I	PLCL1_uc002uuv.4_Silent_p.I715I	NM_006226	NP_006217	Q15111	PLCL1_HUMAN	Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	794	C2.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.V793F(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TGGCCATGATCCGTTTTGTTG	0.403000														47			25		0	0	0.00178596	0	0
MXRA5	25878	broad.mit.edu	37	X	3228200	3228200	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:3228200G>A	uc004crg.4	-	6	8201	c.8044C>T	c.(8044-8046)Ccc>Tcc	p.P2682S		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2682	Ig-like C2-type 11.					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)				AGGGTTTGGGGGCCCTCCAGA	0.607000														6			17		0	0	0.00152264	0	0
RHBG	57127	broad.mit.edu	37	1	156351984	156351984	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:156351984C>T	uc010pho.2	+	6	1142	c.1104C>T	c.(1102-1104)taC>taT	p.Y368Y	RHBG_uc010phm.1_Missense_Mutation_p.T201M|RHBG_uc010phn.1_Non-coding_Transcript|RHBG_uc001fos.3_Silent_p.Y299Y|RHBG_uc009wrz.3_Silent_p.Y336Y|RHBG_uc001for.3_Silent_p.Y338Y	NM_020407	NP_065140	Q9H310	RHBG_HUMAN	Homo sapiens Rh family, B glycoprotein (gene/pseudogene) (RHBG), transcript variant 1, mRNA.	368					transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					ATGAAGCTTACGGAGATGGGT	0.547000														105			37		0	0	0.00222228	0	0
NUP210L	91181	broad.mit.edu	37	1	154076511	154076511	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:154076511C>T	uc001fdw.3	-	12	1868	c.1796G>A	c.(1795-1797)gGa>gAa	p.G599E	NUP210L_uc009woq.3_5'UTR|NUP210L_uc010peh.2_Missense_Mutation_p.G599E	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	599						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			AGTAAAGACTCCTTGTTTATC	0.353000														110			32		0	0	0.0024448	0	0
MED24	9862	broad.mit.edu	37	17	38183177	38183177	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:38183177G>A	uc002hts.3	-	15	1916	c.1716C>T	c.(1714-1716)ttC>ttT	p.F572F	MED24_uc010wes.2_Silent_p.F407F|MED24_uc010wet.2_Intron|MED24_uc002htt.3_Silent_p.F547F|MED24_uc002htu.3_Silent_p.F534F|MED24_uc010cwn.3_Silent_p.F534F|MED24_uc010weu.2_Silent_p.F457F|MED24_uc010wev.1_Silent_p.F497F|MED24_uc010wew.1_Silent_p.F488F|MED24_uc010wex.1_Silent_p.F252F|SNORD124_uc010wey.2_5'Flank	NM_014815	NP_055630	O75448	MED24_HUMAN	Homo sapiens mediator complex subunit 24 (MED24), transcript variant 1, mRNA.	547					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					AGTCGGGGCGGAAGCAGGGGT	0.637000											OREG0024386	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		45			6		0	0	0.000157383	0	0
SYT1	6857	broad.mit.edu	37	12	79689912	79689912	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:79689912C>T	uc001sys.3	+	7	1209	c.538C>T	c.(538-540)Cct>Tct	p.P180S	SYT1_uc001syt.3_Missense_Mutation_p.P180S|SYT1_uc001syu.3_Missense_Mutation_p.P177S|SYT1_uc001syv.3_Missense_Mutation_p.P180S	NM_001135805	NP_005630	P21579	SYT1_HUMAN	Homo sapiens synaptotagmin I (SYT1), transcript variant 2, mRNA.	180	C2 1.|Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity	p.P180S(2)|p.P180L(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						CACATCTGATCCTTACGTGAA	0.423000														34			22		0	0	0.000375601	0	0
CAMK4	814	broad.mit.edu	37	5	110782473	110782473	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:110782473C>T	uc003kpf.3	+	6	785	c.550_splice	c.e6+1	p.A184_splice	CAMK4_uc010jbv.3_Splice_Site	NM_001744	NP_001735	Q16566	KCC4_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase IV (CAMK4), mRNA.	184	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		CACTCAAAATCGGTGAGAACA	0.383000														34			22		0	0	0.00047179	0	0
DSP	1832	broad.mit.edu	37	6	7585335	7585335	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:7585335G>A	uc003mxp.1	+	23	8119	c.7840G>A	c.(7840-7842)Gaa>Aaa	p.E2614K	DSP_uc003mxq.1_Missense_Mutation_p.E2015K|DSP_uc021yle.1_Missense_Mutation_p.E2171K	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2614	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AGACACCCTGGAAGAATCGAG	0.463000														50			26		0	0	0.00178596	0	0
NRXN3	9369	broad.mit.edu	37	14	79432483	79432483	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:79432483C>T	uc001xun.3	+	8	1883	c.1392C>T	c.(1390-1392)agC>agT	p.S464S	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Silent_p.S589S	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	0					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		ATCTGCAGAGCCTCATGTTTA	0.458000														23			15		0	0	0.00074312	0	0
TPRG1	285386	broad.mit.edu	37	3	188925302	188925302	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:188925302G>A	uc003frv.2	+	6	1356	c.129G>A	c.(127-129)agG>agA	p.R43R	TPRG1_uc003frw.2_Silent_p.R43R	NM_198485	NP_940887	Q6ZUI0	TPRG1_HUMAN	Homo sapiens tumor protein p63 regulated 1 (TPRG1), mRNA.	43								p.R43S(4)		endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		AGATTTCAAGGCAGTCAAGTG	0.473000														39			20		0	0	0.00229938	0	0
A1CF	29974	broad.mit.edu	37	10	52603882	52603882	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:52603882C>T	uc001jjj.3	-	4	288	c.100_splice	c.e4-1	p.E34_splice	A1CF_uc010qho.2_Splice_Site_p.E42_splice|A1CF_uc010qhn.2_Splice_Site_p.E42_splice|A1CF_uc009xov.3_Splice_Site_p.E34_splice|A1CF_uc001jji.3_Splice_Site_p.E34_splice|A1CF_uc001jjh.3_Splice_Site_p.E42_splice|A1CF_uc001jjk.1_Splice_Site_p.E34_splice	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	34					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	p.E42K(2)|p.E34K(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TGTCCATTTTCCTGCAAATCC	0.413000														29			18		0	0	0.000375601	0	0
INF2	64423	broad.mit.edu	37	14	105178850	105178850	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:105178850C>T	uc001ypb.2	+	16	2713	c.2570C>T	c.(2569-2571)tCc>tTc	p.S857F	INF2_uc001ypc.2_Missense_Mutation_p.S857F|INF2_uc010awz.1_Non-coding_Transcript	NM_022489	NP_071934	Q27J81	INF2_HUMAN	Homo sapiens inverted formin, FH2 and WH2 domain containing (INF2), transcript variant 1, mRNA.	857	FH2.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	Rho GTPase binding|actin binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		GTGTCTGCCTCCGTGGCCGAG	0.647000														27			17		0	0	0.00074312	0	0
FTH1	2495	broad.mit.edu	37	11	61732864	61732864	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:61732864G>A	uc001nsu.3	-	1	473	c.238C>T	c.(238-240)Cga>Tga	p.R80*		NM_002032	NP_002023	P02794	FRIH_HUMAN	Homo sapiens ferritin, heavy polypeptide 1 (FTH1), mRNA.	80	Ferritin-like diiron.				cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|ferroxidase activity|protein binding			NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8					Iron Dextran(DB00893)	AGGAAGATTCGGCCACCTCGT	0.438000														145			118		0	0	0.000781405	0	0
PSG2	5670	broad.mit.edu	37	19	43585352	43585352	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:43585352C>T	uc002ovr.3	-	1	283	c.111G>A	c.(109-111)acG>acA	p.T37T	PSG4_uc010xwk.1_Intron	NM_031246	NP_112536	P11465	PSG2_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 2 (PSG2), mRNA.	37	Ig-like V-type.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				GGGCTTCAATCGTGACTTGGG	0.478000														115			38		0	0	0.00222228	0	0
LCA5	167691	broad.mit.edu	37	6	80223146	80223146	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:80223146A>T	uc003piy.3	-	3	1115	c.503T>A	c.(502-504)aTt>aAt	p.I168N	LCA5_uc003pix.3_Missense_Mutation_p.I168N|LCA5_uc011dyr.2_Missense_Mutation_p.I168N	NM_181714	NP_859065	Q86VQ0	LCA5_HUMAN	Homo sapiens Leber congenital amaurosis 5 (LCA5), transcript variant 1, mRNA.	168					protein transport	cilium axoneme|microtubule basal body	protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		GAGTGCTGTAATCTCATTGTT	0.353000														13			37		0	0	0.00111076	0	0
NALCN	259232	broad.mit.edu	37	13	101733962	101733962	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr13:101733962G>A	uc001vox.1	-	33	3990	c.3801C>T	c.(3799-3801)ggC>ggT	p.G1267G		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	1267						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTTGCCAGAAGCCAGCAGGCG	0.433000														26			17		0	0	0.000958276	0	0
KIAA0195	9772	broad.mit.edu	37	17	73493269	73493269	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:73493269C>T	uc010wsa.2	+	24	3619	c.3427C>T	c.(3427-3429)Cct>Tct	p.P1143S	KIAA0195_uc002jnz.4_Missense_Mutation_p.P1133S|KIAA0195_uc010wsb.2_Missense_Mutation_p.P773S|KIAA0195_uc002job.4_Missense_Mutation_p.P141S	NM_014738	NP_055553	Q12767	K0195_HUMAN	Homo sapiens KIAA0195 (KIAA0195), mRNA.	1133					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTTTTGCTACCCTCTGCTCAG	0.572000														43			41		0	0	0.000781405	0	0
C17orf47	284083	broad.mit.edu	37	17	56620267	56620267	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:56620267C>T	uc002iwq.2	-	0	1467	c.1281G>A	c.(1279-1281)tgG>tgA	p.W427*	SEPT4_uc010wny.2_5'Flank|SEPT4_uc010wnx.2_5'Flank	NM_001038704	NP_001033793	Q8NEP4	CQ047_HUMAN	Homo sapiens chromosome 17 open reading frame 47 (C17orf47), mRNA.	427										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCAAGGGCCACCATGAGGAGT	0.532000														65			96		0	0	0.000781405	0	0
OR8B2	26595	broad.mit.edu	37	11	124252431	124252431	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:124252431C>T	uc010sai.2	-	0	809	c.809G>A	c.(808-810)gGa>gAa	p.G270E		NM_001005468	NP_001005468	Q96RD0	OR8B2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 2 (OR8B2), mRNA.	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		AGAAACTTTTCCCTGCTCCAT	0.423000														18			6		0	0	0.000673444	0	0
KIF19	124602	broad.mit.edu	37	17	72350551	72350551	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:72350551C>T	uc002jkm.4	+	17	2697	c.2559C>T	c.(2557-2559)gcC>gcT	p.A853A		NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	Homo sapiens kinesin family member 19 (KIF19), mRNA.	853					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CGGGCGAGGCCCCGTCCCGGG	0.682000														14			14		0	0	0.000308642	0	0
FAM83H	286077	broad.mit.edu	37	8	144810762	144810762	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr8:144810762G>A	uc003yzk.3	-	4	938	c.869C>T	c.(868-870)gCc>gTc	p.A290V		NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	Homo sapiens family with sequence similarity 83, member H (FAM83H), mRNA.	290					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GCGGGCCAGGGCCGCGGCCGA	0.706000														5			5		0	0	0.00116845	0	0
SLC39A12	221074	broad.mit.edu	37	10	18280159	18280159	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:18280159G>A	uc001ipo.2	+	7	1622	c.1349G>A	c.(1348-1350)gGa>gAa	p.G450E	SLC39A12_uc001ipn.2_Missense_Mutation_p.G450E|SLC39A12_uc001ipp.2_Missense_Mutation_p.G450E|SLC39A12_uc010qck.1_Missense_Mutation_p.G316E	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 12 (SLC39A12), transcript variant 1, mRNA.	450					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						AAACTGATGGGATTAATTGGA	0.333000														59			44		0	0	0.00222228	0	0
TEKT5	146279	broad.mit.edu	37	16	10788374	10788375	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:10788374_10788375GG>AA	uc002czz.1	-	0	428_429	c.356_357CC>TT	c.(355-357)tcc>tTT	p.S119F		NM_144674	NP_653275	Q96M29	TEKT5_HUMAN	Homo sapiens tektin 5 (TEKT5), mRNA.	119					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						AGAGCCTCATGGAGTCATCCGT	0.649000														63			36		0	0	6.4e-05	0	0
CRISP2	7180	broad.mit.edu	37	6	49667538	49667538	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:49667538C>T	uc003ozn.2	-	5	486	c.250G>A	c.(250-252)Gat>Aat	p.D84N	CRISP2_uc003ozr.2_Missense_Mutation_p.D84N|CRISP2_uc003ozo.2_Missense_Mutation_p.D84N|CRISP2_uc003ozm.2_Missense_Mutation_p.D84N|CRISP2_uc003ozp.2_Missense_Mutation_p.D84N|CRISP2_uc003ozq.2_Missense_Mutation_p.D84N|CRISP2_uc003ozl.2_Missense_Mutation_p.D84N	NM_001142417	NP_003287	P16562	CRIS2_HUMAN	Homo sapiens cysteine-rich secretory protein 2 (CRISP2), transcript variant 4, mRNA.	84						extracellular space				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			tcctctgGATCACTATGTTGT	0.333000														21			10		0	0	0.000442599	0	0
THSD4	79875	broad.mit.edu	37	15	72030236	72030236	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:72030236C>T	uc002atb.1	+	9	1875	c.1796C>T	c.(1795-1797)cCc>cTc	p.P599L	THSD4_uc010ukg.1_Missense_Mutation_p.P239L|THSD4_uc002ate.2_Missense_Mutation_p.P239L	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA.	599						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AGATTTTCTCCCCATCGACCG	0.592000														44			24		0	0	0.000586117	0	0
IQCF2	389123	broad.mit.edu	37	3	51897327	51897327	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:51897327G>A	uc003dbt.1	+	2	474	c.436G>A	c.(436-438)Ggc>Agc	p.G146S	IQCF1_uc003dbq.4_Intron|IQCF2_uc003dbu.1_Non-coding_Transcript	NM_203424	NP_982248	Q8IXL9	IQCF2_HUMAN	Homo sapiens IQ motif containing F2 (IQCF2), mRNA.	146										endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TCTCCTCCAGGGCCACTGTGT	0.562000														68			37		0	0	0.00111076	0	0
APOB	338	broad.mit.edu	37	2	21233995	21233995	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:21233995C>T	uc002red.3	-	25	5873	c.5745G>A	c.(5743-5745)ggG>ggA	p.G1915G		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1915					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.G1915E(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GAGCGAGTTTCCCATTGCCAT	0.443000														192			108		0	0	0.000781405	0	0
PDZD8	118987	broad.mit.edu	37	10	119044446	119044446	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:119044446G>A	uc001lde.1	-	4	1997	c.1798C>T	c.(1798-1800)Cct>Tct	p.P600S		NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN	Homo sapiens PDZ domain containing 8 (PDZD8), mRNA.	600	Pro-rich.				intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		GAAGGCAAAGGAACTTTCGCT	0.488000														84			54		0	0	0.000781405	0	0
ZPLD1	131368	broad.mit.edu	37	3	102196369	102196369	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:102196369C>T	uc003dvt.1	+	10	1303	c.1203C>T	c.(1201-1203)agC>agT	p.S401S	ZPLD1_uc003dvs.1_Silent_p.S385S|ZPLD1_uc011bhg.1_Silent_p.S385S	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN	Homo sapiens zona pellucida-like domain containing 1 (ZPLD1), mRNA.	385						integral to membrane		p.S401S(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						GAGTTACGAGCTTTTCTCTTC	0.468000														73			44		0	0	0.000781405	0	0
DCDC2	51473	broad.mit.edu	37	6	24278405	24278405	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:24278405G>A	uc003ndx.3	-	6	1096	c.794C>T	c.(793-795)tCc>tTc	p.S265F	DCDC2_uc003ndy.3_Missense_Mutation_p.S265F	NM_016356	NP_057440	Q9UHG0	DCDC2_HUMAN	Homo sapiens doublecortin domain containing 2 (DCDC2), transcript variant 1, mRNA.	265					cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				GTTGTCACTGGATCCAACTGT	0.363000														30			21		0	0	0.00047179	0	0
FAM194A	131831	broad.mit.edu	37	3	150377804	150377804	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:150377804C>T	uc003eyg.3	-	13	1924	c.1867G>A	c.(1867-1869)Gaa>Aaa	p.E623K	FAM194A_uc003eyh.3_Missense_Mutation_p.E477K	NM_152394	NP_689607	Q7L0X2	F194A_HUMAN	Homo sapiens family with sequence similarity 194, member A (FAM194A), mRNA.	623										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TTTAATTTTTCCCAAACCTGG	0.383000														58			37		0	0	0.00111076	0	0
CCDC167	154467	broad.mit.edu	37	6	37451045	37451045	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:37451045G>A	uc003ont.3	-	3	272	c.211C>T	c.(211-213)Cgg>Tgg	p.R71W		NM_138493	NP_612502	Q9P0B6	CF129_HUMAN	Homo sapiens coiled-coil domain containing 167 (CCDC167), mRNA.	71						integral to membrane		p.L70V(1)		endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6						TTCTCTTGCCGAAGAAACTTC	0.542000														38			24		0	0	0.000720815	0	0
MYBPC3	4607	broad.mit.edu	37	11	47374254	47374254	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:47374254G>A	uc021qis.1	-	1	1	c.-54_splice	c.e1-1		MYBPC3_uc021qir.1_Splice_Site|SLC39A13_uc001nfd.3_5'Flank	NM_000256	NP_000247	Q14896	MYPC3_HUMAN	Homo sapiens myosin binding protein C, cardiac (MYBPC3), mRNA.						cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	ATPase activator activity|actin binding|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		AAGAGGGACTGAGTGGGGTCC	0.567000														36			16		0	0	0.000422831	0	0
TGIF2LX	90316	broad.mit.edu	37	X	89177475	89177475	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:89177475C>T	uc022bzr.1	+	0	391	c.391C>T	c.(391-393)Cat>Tat	p.H131Y	TGIF2LX_uc004efe.3_Missense_Mutation_p.H131Y	NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN	Homo sapiens TGFB-induced factor homeobox 2-like, X-linked (TGIF2LX), mRNA.	131						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.H131I(2)|p.H131L(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						CAAAGATGCCCATGCCACCCA	0.562000														5			19		0	0	0.001512	0	0
TTC18	118491	broad.mit.edu	37	10	75035313	75035313	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:75035313C>T	uc009xrc.3	-	22	2895	c.2774G>A	c.(2773-2775)gGa>gAa	p.G925E	TTC18_uc001jty.3_Missense_Mutation_p.G925E|DNAJC9-AS1_uc021ptm.1_Non-coding_Transcript|TTC18_uc001jtv.4_Missense_Mutation_p.G29E|TTC18_uc001jtw.4_Missense_Mutation_p.G29E|TTC18_uc001jtx.3_Missense_Mutation_p.G306E	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN	Homo sapiens tetratricopeptide repeat domain 18 (TTC18), mRNA.	925							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					GCTGGGGCCTCCTTGAGGGCA	0.453000														105			75		0	0	0.000781405	0	0
UBE4A	9354	broad.mit.edu	37	11	118250261	118250261	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:118250261C>T	uc001psw.3	+	10	1807	c.1672C>T	c.(1672-1674)Cgt>Tgt	p.R558C	UBE4A_uc001psv.3_Missense_Mutation_p.R565C	NM_001204077	NP_001191006	Q14139	UBE4A_HUMAN	Homo sapiens ubiquitination factor E4A (UBE4A), transcript variant 2, mRNA.	558					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TGACAATCTTCGTGAGCAGTT	0.473000														44			41		0	0	0.000509022	0	0
OR2T1	26696	broad.mit.edu	37	1	248570329	248570329	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:248570329A>C	uc010pzm.2	+	0	1034	c.1034A>C	c.(1033-1035)aAg>aCg	p.K345T		NM_030904	NP_112166	O43869	OR2T1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 1 (OR2T1), mRNA.	345					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTTAGAAACAAGGATGTGACT	0.512000														43			42		0	0	0.000781405	0	0
MYO5B	4645	broad.mit.edu	37	18	47488689	47488689	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr18:47488689C>T	uc002leb.2	-	11	1780	c.1492G>A	c.(1492-1494)Gac>Aac	p.D498N	MYO5B_uc021ukb.1_Missense_Mutation_p.D497N	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	498	Myosin head-like.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TCAATGAGGTCGATACAAGGT	0.403000														49			32		0	0	0.00058488	0	0
OR1L1	26737	broad.mit.edu	37	9	125423999	125423999	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:125423999G>A	uc022bmz.1	+	0	5	c.5G>A	c.(4-6)gGa>gAa	p.G2E		NM_001005236	NP_001005236	Q8NH94	OR1L1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 1 (OR1L1), mRNA.	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						ACAACTATGGGAAGAAATAAC	0.418000														39			29		0	0	0.0024448	0	0
XIRP2	129446	broad.mit.edu	37	2	168101155	168101155	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:168101155G>A	uc002udx.3	+	8	3342	c.3253G>A	c.(3253-3255)Gat>Aat	p.D1085N	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.D910N|XIRP2_uc010fpq.3_Missense_Mutation_p.D863N|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	910					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ACAAACTAGAGATATTGTTAA	0.353000														16			13		0	0	0.000219431	0	0
OR11H6	122748	broad.mit.edu	37	14	20692397	20692397	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:20692397C>T	uc010tlc.2	+	0	529	c.529C>T	c.(529-531)Cct>Tct	p.P177S		NM_001004480	NP_001004480	Q8NGC7	O11H6_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 6 (OR11H6), mRNA.	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V176D(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		CTATCCAGTCCCTATTGTTCT	0.502000														8			14		0	0	0.000219431	0	0
CACNA1C	775	broad.mit.edu	37	12	2705039	2705039	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:2705039G>A	uc009zdu.1	+	20	2977	c.2664_splice	c.e20-1	p.R888_splice	CACNA1C_uc001qkc.2_Splice_Site_p.R888_splice|CACNA1C_uc001qjz.2_Splice_Site_p.R888_splice|CACNA1C_uc001qkd.2_Splice_Site_p.R888_splice|CACNA1C_uc001qke.2_Splice_Site_p.R888_splice|CACNA1C_uc001qkf.2_Splice_Site_p.R888_splice|CACNA1C_uc009zdw.1_Splice_Site_p.R888_splice|CACNA1C_uc001qkg.2_Splice_Site_p.R888_splice|CACNA1C_uc001qkh.2_Splice_Site_p.R888_splice|CACNA1C_uc001qkl.2_Splice_Site_p.R888_splice|CACNA1C_uc001qkj.2_Splice_Site_p.R888_splice|CACNA1C_uc001qkk.2_Splice_Site_p.R888_splice|CACNA1C_uc001qkn.2_Splice_Site_p.R888_splice|CACNA1C_uc001qkm.2_Splice_Site_p.R888_splice|CACNA1C_uc001qko.2_Splice_Site_p.R888_splice|CACNA1C_uc001qkp.2_Splice_Site_p.R888_splice|CACNA1C_uc001qkq.2_Splice_Site_p.R888_splice|CACNA1C_uc001qku.2_Splice_Site_p.R888_splice|CACNA1C_uc001qkr.2_Splice_Site_p.R888_splice|CACNA1C_uc001qks.2_Splice_Site_p.R888_splice|CACNA1C_uc001qkt.2_Splice_Site_p.R888_splice|CACNA1C_uc009zdv.1_Splice_Site_p.R885_splice|CACNA1C_uc001qkb.2_Splice_Site_p.R888_splice|CACNA1C_uc001qka.1_Splice_Site_p.R423_splice|CACNA1C_uc001qki.1_Splice_Site_p.R624_splice	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	888					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CTCCCGTACAGGTTTCGCCTC	0.577000														28			28		0	0	0.001512	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47243605	47243605	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:47243605G>A	uc002ion.2	+	8	1323	c.1264G>A	c.(1264-1266)Gaa>Aaa	p.E422K	B4GALNT2_uc010wlt.1_Missense_Mutation_p.E336K|B4GALNT2_uc010wlu.1_Missense_Mutation_p.E362K	NM_153446	NP_001152860	Q8NHY0	B4GN2_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 2 (B4GALNT2), transcript variant 1, mRNA.	422					UDP-N-acetylgalactosamine metabolic process|lipid glycosylation|negative regulation of cell-cell adhesion	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			GGAGAAAACAGAACTGGACGT	0.483000														40			37		0	0	0.000509022	0	0
FCN1	2219	broad.mit.edu	37	9	137801805	137801805	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:137801805A>G	uc004cfi.3	-	8	909	c.820T>C	c.(820-822)Ttc>Ctc	p.F274L		NM_002003	NP_001994	O00602	FCN1_HUMAN	Homo sapiens ficolin (collagen/fibrinogen domain containing) 1 (FCN1), mRNA.	274	Fibrinogen C-terminal.				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		GCTCCTTGGAACTTCTCAGCA	0.478000														99			63		0	0	0.000781405	0	0
MAGI3	260425	broad.mit.edu	37	1	114184796	114184796	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:114184796G>A	uc001edk.3	+	9	1805	c.1624G>A	c.(1624-1626)Gga>Aga	p.G542R	MAGI3_uc001edh.3_Missense_Mutation_p.G567R|MAGI3_uc001edi.4_Missense_Mutation_p.G542R|MAGI3_uc010owm.2_Missense_Mutation_p.G567R|MAGI3_uc001edj.3_Missense_Mutation_p.G263R	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 3 (MAGI3), transcript variant 1, mRNA.	567					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGAGCAGAATGGAAAATCGGG	0.498000														68			48		0	0	0.000781405	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54604048	54604048	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:54604048G>A	uc003dhf.3	+	7	853	c.805G>A	c.(805-807)Gga>Aga	p.G269R	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Missense_Mutation_p.G175R|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Missense_Mutation_p.G3R	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	269	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		CAGCATGAAAGGACTCCGTCT	0.433000														68			40		0	0	0.00128727	0	0
NIN	51199	broad.mit.edu	37	14	51226703	51226703	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:51226703G>A	uc001wyi.3	-	16	2462	c.2271C>T	c.(2269-2271)ggC>ggT	p.G757G	NIN_uc001wyj.3_Non-coding_Transcript|NIN_uc001wym.2_Silent_p.G757G|NIN_uc001wyk.3_Silent_p.G757G|NIN_uc001wyo.3_Silent_p.G757G	NM_020921	NP_065972	Q8N4C6	NIN_HUMAN	Homo sapiens ninein (GSK3B interacting protein) (NIN), transcript variant 2, mRNA.	757					centrosome localization	centrosome|microtubule	GTP binding|calcium ion binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					CCTGAGTCAAGCCTCTCACCT	0.512000			T	PDGFRB	MPD									76			34		0	0	0.000692331	0	0
NAALADL2	254827	broad.mit.edu	37	3	174974280	174974280	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:174974280C>T	uc003fit.3	+	3	987	c.900C>T	c.(898-900)atC>atT	p.I300I	NAALADL2_uc003fiu.1_Silent_p.I293I|NAALADL2_uc010hwy.1_Silent_p.I122I|NAALADL2_uc010hwz.1_5'UTR	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 2 (NAALADL2), mRNA.	300					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		CAAATCAGATCGCACTCCTGA	0.353000														58			26		0	0	0.00127121	0	0
TPTE2	93492	broad.mit.edu	37	13	20048070	20048070	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr13:20048070G>A	uc001umd.3	-	6	587	c.376C>T	c.(376-378)Cga>Tga	p.R126*	TPTE2_uc009zzk.3_Intron|TPTE2_uc009zzl.3_Intron|TPTE2_uc001ume.3_Nonsense_Mutation_p.R89*|TPTE2_uc009zzm.3_5'UTR|TPTE2_uc010tcm.2_Non-coding_Transcript	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	126						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R89G(1)|p.R126G(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ACAAATACTCGAAGAAGAACA	0.358000														49			37		0	0	0.000692331	0	0
MYPN	84665	broad.mit.edu	37	10	69918341	69918341	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:69918341G>A	uc001jnm.4	+	7	1601	c.1416G>A	c.(1414-1416)ggG>ggA	p.G472G	MYPN_uc001jnl.1_Silent_p.G472G|MYPN_uc001jnn.4_Silent_p.G197G|MYPN_uc001jno.4_Silent_p.G472G|MYPN_uc001jnp.1_Silent_p.G472G|MYPN_uc009xps.3_Silent_p.G472G|MYPN_uc009xpt.3_Silent_p.G472G|MYPN_uc010qit.2_Silent_p.G178G|MYPN_uc010qiu.2_Non-coding_Transcript	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	Homo sapiens myopalladin (MYPN), transcript variant 1, mRNA.	472	Ig-like 2.|Interaction with CARP.					nucleus|sarcomere	actin binding	p.E471D(1)		breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						ATAGAGAAGGGACTTTAATAG	0.328000														43			28		0	0	0.00106085	0	0
CPT2	1376	broad.mit.edu	37	1	53676142	53676143	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:53676142_53676143CC>TT	uc001cvb.4	+	3	1311_1312	c.796_797CC>TT	c.(796-798)ccc>TTc	p.P266F		NM_000098	NP_000089	P23786	CPT2_HUMAN	Homo sapiens carnitine palmitoyltransferase 2 (CPT2), nuclear gene encoding mitochondrial protein, mRNA.	266					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	CATTGTGAGCCCCTCGGAAATC	0.505000														38			19		0	0	6.4e-05	0	0
TRANK1	9881	broad.mit.edu	37	3	36872699	36872700	+	Missense_Mutation	DNP	CC	TT	TT	rs113812469		TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:36872699_36872700CC>TT	uc003cgj.3	-	20	8490_8491	c.8242_8243GG>AA	c.(8242-8244)ggg>AAg	p.G2748K		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2748					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GGAAGCTGCCCCCTCAAACGCT	0.545000														25			21		0	0	6.4e-05	0	0
ZC3H18	124245	broad.mit.edu	37	16	88643950	88643951	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:88643950_88643951CC>TT	uc010voz.2	+	1	619_620	c.419_420CC>TT	c.(418-420)ccc>cTT	p.P140L	ZC3H18_uc021tmm.1_Missense_Mutation_p.P140L|ZC3H18_uc010voy.1_Intron|ZC3H18_uc002fky.3_Missense_Mutation_p.P140L|ZC3H18_uc010vpa.1_Missense_Mutation_p.P140L	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	Homo sapiens zinc finger CCCH-type containing 18 (ZC3H18), mRNA.	140						nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		GAGCCAGCTCCCGCCGTCCAGG	0.614000														17			8		0	0	6.4e-05	0	0
LOC649330	649330	broad.mit.edu	37	1	12907921	12907921	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:12907921C>T	uc010obf.2	-	1	448	c.222G>A	c.(220-222)atG>atA	p.M74I	LOC649330_uc009vno.2_Missense_Mutation_p.M74I	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	74							nucleic acid binding|nucleotide binding										GGCTAGCAATCATTCTGCCAT	0.502000														87			15		0	0	0.000422831	0	0
FASLG	356	broad.mit.edu	37	1	172634869	172634869	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:172634869G>A	uc001gis.3	+	3	716	c.559G>A	c.(559-561)Ggg>Agg	p.G187R	FASLG_uc001git.3_3'UTR	NM_000639	NP_000630	P48023	TNFL6_HUMAN	Homo sapiens Fas ligand (TNF superfamily, member 6) (FASLG), mRNA.	187					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						CAATGAAACTGGGCTGTACTT	0.468000														58			27		0	0	0.00209593	0	0
VPS13B	157680	broad.mit.edu	37	8	100865925	100865925	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr8:100865925G>A	uc003yiv.3	+	55	10494	c.10383G>A	c.(10381-10383)aaG>aaA	p.K3461K	VPS13B_uc003yiw.3_Silent_p.K3436K	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	3461					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTTATAACAAGTCCAATTTCC	0.488000														40			25		0	0	0.000720815	0	0
B4GALNT4	338707	broad.mit.edu	37	11	380832	380832	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:380832G>A	uc001lpb.3	+	18	2886	c.2877G>A	c.(2875-2877)tgG>tgA	p.W959*		NM_178537	NP_848632	Q76KP1	B4GN4_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 4 (B4GALNT4), mRNA.	959						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)		CAGGTTACTGGGAGGTGAACG	0.622000														27			17		0	0	0.00188189	0	0
ZNF431	170959	broad.mit.edu	37	19	21365636	21365636	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:21365636C>T	uc010ecr.2	+	4	680	c.533C>T	c.(532-534)cCa>cTa	p.P178L	ZNF431_uc002npp.2_Missense_Mutation_p.P177L|ZNF431_uc010ecq.2_Missense_Mutation_p.P86L	NM_133473	NP_597730	Q8TF32	ZN431_HUMAN	Homo sapiens zinc finger protein 431 (ZNF431), mRNA.	177					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						AAAATATTTCCATGTGATAAA	0.328000														32			17		0	0	0.000566183	0	0
ABCC12	94160	broad.mit.edu	37	16	48167728	48167728	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:48167728C>T	uc002efc.1	-	6	1344	c.998G>A	c.(997-999)aGa>aAa	p.R333K	ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript|ABCC12_uc002efe.1_Missense_Mutation_p.R333K|ABCC12_uc010vgj.1_Non-coding_Transcript	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA.	333	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CAGTAATTTTCTTTCCCTCCT	0.443000														40			12		0	0	0.00185496	0	0
IL18R1	8809	broad.mit.edu	37	2	103013002	103013002	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:103013002G>A	uc002tbw.4	+	10	1432	c.1282G>A	c.(1282-1284)Gaa>Aaa	p.E428K	IL18R1_uc010ywd.2_Missense_Mutation_p.E272K|IL18R1_uc010fiy.3_Missense_Mutation_p.E428K|IL18R1_uc010ywc.2_Missense_Mutation_p.E427K	NM_003855	NP_003846	Q13478	IL18R_HUMAN	Homo sapiens interleukin 18 receptor 1 (IL18R1), mRNA.	428	TIR.				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TGTTGTTGATGAAATCCACTC	0.343000														30			20		0	0	0.00188189	0	0
USH2A	7399	broad.mit.edu	37	1	216424377	216424377	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:216424377C>T	uc001hku.1	-	11	2422	c.2035G>A	c.(2035-2037)Gga>Aga	p.G679R	USH2A_uc001hkv.3_Missense_Mutation_p.G679R	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	679	Laminin EGF-like 3.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.G679R(2)		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)		TTGTAGAATCCATTCTGGCAC	0.438000										HNSCC(13;0.011)				30			17		0	0	0.00188189	0	0
OR4A47	403253	broad.mit.edu	37	11	48510571	48510571	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:48510571C>T	uc010rhx.2	+	0	227	c.227C>T	c.(226-228)tCc>tTc	p.S76F		NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 47 (OR4A47), mRNA.	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TCATCCATTTCCCCCAGATTG	0.423000														44			18		0	0	0.000566183	0	0
IRAK3	11213	broad.mit.edu	37	12	66605284	66605284	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:66605284C>T	uc001sth.3	+	4	597	c.495C>T	c.(493-495)ttC>ttT	p.F165F	IRAK3_uc010ssy.2_Silent_p.F104F	NM_007199	NP_009130	Q9Y616	IRAK3_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 3 (IRAK3), transcript variant 1, mRNA.	165	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|interleukin-1-mediated signaling pathway|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB transcription factor activity|positive regulation of macrophage tolerance induction|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		CTAGAAATTTCCACAAAGACT	0.353000														23			24		0	0	0.000375601	0	0
FPGS	2356	broad.mit.edu	37	9	130575600	130575601	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:130575600_130575601CC>TT	uc004bsg.1	+	14	1531_1532	c.1481_1482CC>TT	c.(1480-1482)ccc>cTT	p.P494L	FPGS_uc004bsh.1_Missense_Mutation_p.P311L|FPGS_uc011mal.1_Missense_Mutation_p.P468L|FPGS_uc004bsi.1_Missense_Mutation_p.P444L|AK057719_uc004bsl.1_5'Flank	NM_004957	NP_004948	Q05932	FOLC_HUMAN	Homo sapiens folylpolyglutamate synthase (FPGS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	494					folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process	cytosol|mitochondrial matrix	ATP binding|tetrahydrofolylpolyglutamate synthase activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					L-Glutamic Acid(DB00142)	AGCCCAGAGCCCGGTGGGTCCG	0.653000														15			12		0	0	6.4e-05	0	0
CHRND	1144	broad.mit.edu	37	2	233399004	233399004	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:233399004G>A	uc002vsw.3	+	10	1327	c.1323G>A	c.(1321-1323)ggG>ggA	p.G441G	CHRND_uc010zmg.2_Silent_p.G426G|CHRND_uc010zmh.2_Silent_p.G247G	NM_000751	NP_000742	Q07001	ACHD_HUMAN	Homo sapiens cholinergic receptor, nicotinic, delta (CHRND), mRNA.	441					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		CTGTGGATGGGGCAAACTTCA	0.537000														56			40		0	0	0.000680045	0	0
SYT10	341359	broad.mit.edu	37	12	33532820	33532820	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:33532820C>T	uc001rll.1	-	5	1744	c.1447G>A	c.(1447-1449)Gaa>Aaa	p.E483K	SYT10_uc009zju.1_Missense_Mutation_p.E293K	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	Homo sapiens synaptotagmin X (SYT10), mRNA.	483						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					GCCAGCATTTCATTCCAGTGG	0.463000														45			19		0	0	0.000958276	0	0
RALGAPB	57148	broad.mit.edu	37	20	37128170	37128171	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:37128170_37128171CC>AA	uc002xiw.3	+	4	891_892	c.634_635CC>AA	c.(634-636)cca>AAa	p.P212K	RALGAPB_uc010zvz.1_Missense_Mutation_p.P212K|RALGAPB_uc002xix.3_Missense_Mutation_p.P212K|RALGAPB_uc002xiy.1_Missense_Mutation_p.P212K|RALGAPB_uc002xiz.3_5'UTR	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Homo sapiens Ral GTPase activating protein, beta subunit (non-catalytic) (RALGAPB), mRNA.	212					activation of Ral GTPase activity	intracellular	Ral GTPase activator activity|protein heterodimerization activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TCGGTGCTTCCCAACACCTCCT	0.480000														132			7		0	0	6.4e-05	0	0
RPUSD2	27079	broad.mit.edu	37	15	40861740	40861740	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:40861740C>T	uc001zmd.1	+	0	204	c.204C>T	c.(202-204)tcC>tcT	p.S68S	RPUSD2_uc021sjh.1_Silent_p.S68S	NM_152260	NP_689473	Q8IZ73	RUSD2_HUMAN	Homo sapiens RNA pseudouridylate synthase domain containing 2 (RPUSD2), mRNA.	68					pseudouridine synthesis		RNA binding|protein binding|pseudouridine synthase activity			kidney(4)|lung(4)|skin(3)	11		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)		TTGAGCTGTCCCCCGGGCCCC	0.682000														13			11		0	0	0.00136819	0	0
SLC26A11	284129	broad.mit.edu	37	17	78211392	78211392	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:78211392C>T	uc002jyb.2	+	9	1291	c.985_splice	c.e9+1	p.A329_splice	SLC26A11_uc002jyc.2_Splice_Site_p.A329_splice|SLC26A11_uc002jyd.2_Splice_Site_p.A329_splice|SLC26A11_uc010dhv.2_Splice_Site_p.A329_splice	NM_173626	NP_775897	Q86WA9	S2611_HUMAN	Homo sapiens solute carrier family 26, member 11 (SLC26A11), transcript variant 2, mRNA.	329						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CCAAAGCCTTCGGTAAGACGC	0.607000														23			10		0	0	0.00136819	0	0
IFIT2	3433	broad.mit.edu	37	10	91066303	91066303	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:91066303C>T	uc009xts.3	+	1	765	c.590C>T	c.(589-591)cCt>cTt	p.P197L	LIPA_uc001kgb.4_Intron|LIPA_uc001kgc.4_Intron|BC040833_uc001kgd.3_Intron	NM_001547	NP_001538	P09913	IFIT2_HUMAN	Homo sapiens interferon-induced protein with tetratricopeptide repeats 2 (IFIT2), mRNA.	197					negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				GCCATTGACCCTCTGAGGCAA	0.507000														32			18		0	0	0.000958276	0	0
MYO9A	4649	broad.mit.edu	37	15	72122637	72122637	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:72122637G>A	uc002atl.4	-	39	7326	c.6853C>T	c.(6853-6855)Cgt>Tgt	p.R2285C	MYO9A_uc002atk.3_Missense_Mutation_p.R1080C	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.	2285	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity	p.R2285C(4)		NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTTCCTCGACGAATACGCCCC	0.443000														18			13		0	0	0.000219431	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43822449	43822449	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:43822449C>T	uc010skx.2	-	24	3643	c.3643G>A	c.(3643-3645)Gat>Aat	p.D1215N	ADAMTS20_uc001rno.1_Missense_Mutation_p.D333N|ADAMTS20_uc001rnp.1_Missense_Mutation_p.D369N	NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	1215	TSP type-1 8.					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)		GGTGACCAATCCCCTGCTTGC	0.348000														5			5		0	0	0.000602214	0	0
ZNF676	163223	broad.mit.edu	37	19	22364100	22364100	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:22364100C>A	uc002nqs.1	-	2	737	c.419G>T	c.(418-420)gGt>gTt	p.G140V		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	140					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				ACATTTCAAACCTTTCTCTCC	0.323000														62			24		3.01185e-09	1.38289e-08	0.000586117	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110397851	110397851	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr8:110397851G>A	uc003yne.3	+	5	665	c.561G>A	c.(559-561)agG>agA	p.R187R		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	187	IPT/TIG 2.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AAAATGTTAGGATTTTGAGGT	0.289000										HNSCC(38;0.096)				26			21		0	0	0.00188189	0	0
PDZRN3	23024	broad.mit.edu	37	3	73433158	73433158	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:73433158C>T	uc003dpl.1	-	9	2655	c.2559G>A	c.(2557-2559)caG>caA	p.Q853Q	PDZRN3_uc011bgh.1_Silent_p.Q510Q|PDZRN3_uc010hoe.1_Silent_p.Q551Q|PDZRN3_uc021xaq.1_Silent_p.Q146Q|PDZRN3_uc011bgf.1_Silent_p.Q570Q|PDZRN3_uc011bgg.1_Silent_p.Q573Q	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	Homo sapiens PDZ domain containing ring finger 3 (PDZRN3), mRNA.	853							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TGCCCAGCTTCTGGCTGGGCG	0.652000														33			27		0	0	0.000720815	0	0
CNOT7	29883	broad.mit.edu	37	8	17102580	17102580	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr8:17102580G>A	uc003wxf.1	-	1	250	c.82C>T	c.(82-84)Cgt>Tgt	p.R28C	CNOT7_uc003wxg.1_Missense_Mutation_p.R28C|CNOT7_uc003wxh.1_Missense_Mutation_p.R28C|CNOT7_uc003wxi.1_Missense_Mutation_p.R28C|VPS37A_uc003wxj.3_5'Flank|VPS37A_uc003wxk.3_5'Flank	NM_013354	NP_037486	Q9UIV1	CNOT7_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 7 (CNOT7), transcript variant 1, mRNA.	28					carbohydrate metabolic process|nuclear-transcribed mRNA poly(A) tail shortening	CCR4-NOT complex|cytoplasmic mRNA processing body|cytosol	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.R28C(2)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)	11				Colorectal(111;0.0523)|COAD - Colon adenocarcinoma(73;0.209)		ATAACTTGACGAATTTTCTTC	0.388000														20			38		0	0	0.00128727	0	0
CYTH4	27128	broad.mit.edu	37	22	37708069	37708069	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr22:37708069G>A	uc003arf.3	+	11	1082	c.966G>A	c.(964-966)ctG>ctA	p.L322L	CYTH4_uc011amw.2_Silent_p.L265L	NM_013385	NP_037517	Q9UIA0	CYH4_HUMAN	Homo sapiens cytohesin 4 (CYTH4), mRNA.	322	PH.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						AGTTCTGCCTGGAGCTCTACA	0.632000														28			15		0	0	0.000422831	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1643030	1643030	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:1643030C>T	uc009ycy.1	-	1	276	c.189G>A	c.(187-189)aaG>aaA	p.K63K	MOB2_uc001ltq.2_Intron	NM_001012709	NP_001012727	Q6L8H1	KRA54_HUMAN	Homo sapiens keratin associated protein 5-4 (KRTAP5-4), mRNA.	158	9 X 4 AA repeats of C-C-X-P.					keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CACAGCCCCCCTTGGAACCCC	0.682000														51			8		0	0	0.000274275	0	0
MTA3	57504	broad.mit.edu	37	2	42936176	42936176	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:42936176C>T	uc002rso.1	+	14	1964	c.1294C>T	c.(1294-1296)Ctg>Ttg	p.L432L	MTA3_uc002rsp.1_Silent_p.L432L|MTA3_uc002rsq.3_Silent_p.L489L|MTA3_uc021vgm.1_Silent_p.L177L	NM_020744	NP_065795	Q9BTC8	MTA3_HUMAN	Homo sapiens metastasis associated 1 family, member 3 (MTA3), mRNA.	489						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						TACCCTCCGGCTGCGGCAGGC	0.438000														12			10		0	0	0.000673444	0	0
COL3A1	1281	broad.mit.edu	37	2	189871160	189871160	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:189871160T>G	uc002uqj.1	+	42	3300	c.3183T>G	c.(3181-3183)agT>agG	p.S1061R		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	1061	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CTGGAAAGAGTGGTGACAGAG	0.498000														36			12		0	0	0.00136819	0	0
MS4A3	932	broad.mit.edu	37	11	59828728	59828728	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:59828728C>T	uc001nom.3	+	1	223	c.95C>T	c.(94-96)tCt>tTt	p.S32F	MS4A3_uc001non.3_Missense_Mutation_p.S32F|MS4A3_uc001noo.3_Intron	NM_006138	NP_006129	Q96HJ5	MS4A3_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific) (MS4A3), transcript variant 1, mRNA.	32						endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity			endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				CTGAATACTTCTGTCTACCAG	0.488000														28			21		0	0	0.00121646	0	0
THBS1	7057	broad.mit.edu	37	15	39886347	39886347	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:39886347C>T	uc001zkh.3	+	19	3494	c.3315C>T	c.(3313-3315)ttC>ttT	p.F1105F	THBS1_uc010bbi.3_Silent_p.F577F	NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	1105	TSP C-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	GGAAAGATTTCACCGCCTACA	0.478000														13			11		0	0	0.00185496	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	154998	154998	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:154998C>T	uc003jak.2	+	5	983	c.933C>T	c.(931-933)gtC>gtT	p.V311V		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	311					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		AGTGTGAGGTCGTGAGCTCCC	0.557000														37			23		0	0	0.000586117	0	0
SLC14A2	8170	broad.mit.edu	37	18	43246970	43246970	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr18:43246970G>A	uc002lbe.3	+	12	2444	c.1628G>A	c.(1627-1629)cGg>cAg	p.R543Q	SLC14A2_uc010dnj.3_Missense_Mutation_p.R543Q	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	543						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCCTGGATTCGGAGTTCCATG	0.483000														32			25		0	0	0.00047179	0	0
TCRA	0	broad.mit.edu	37	14	22315112	22315112	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:22315112G>A	uc001wbz.1	+	1	275	c.50G>A	c.(49-51)gGa>gAa	p.G17E	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Non-coding_Transcript|TCRA_uc010ait.1_Intron					Homo sapiens mRNA for T cell receptor alpha variable 8, partial cds, clone: un 132.																		GTTGCAGGAGGAACCAGAGCC	0.498000											OREG0022570	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		23			7		0	0	0.000442599	0	0
HRH2	3274	broad.mit.edu	37	5	175110262	175110262	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:175110262C>T	uc003mdc.4	+	1	670	c.26C>T	c.(25-27)tCc>tTc	p.S9F	HRH2_uc003mdd.2_Missense_Mutation_p.S9F	NM_001131055	NP_001124527	P25021	HRH2_HUMAN	Homo sapiens histamine receptor H2 (HRH2), transcript variant 1, mRNA.	9					G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	ACAGCCTCTTCCTTTTGCCTG	0.572000														106			61		0	0	0.000781405	0	0
DLEC1	9940	broad.mit.edu	37	3	38138118	38138118	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:38138118G>A	uc003chp.1	+	14	2251	c.2230G>A	c.(2230-2232)Gaa>Aaa	p.E744K	DLEC1_uc003cho.1_Missense_Mutation_p.E744K|DLEC1_uc010hgv.1_Missense_Mutation_p.E744K|DLEC1_uc003chr.1_5'UTR|DLEC1_uc010hgx.1_Non-coding_Transcript	NM_007337	NP_031363	Q9Y238	DLEC1_HUMAN	Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA.	744					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GATTGTCCTGGAAATCGAGGT	0.507000														62			55		0	0	0.000781405	0	0
ZNF229	7772	broad.mit.edu	37	19	44933997	44933997	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:44933997G>A	uc002oze.1	-	5	1393	c.959C>T	c.(958-960)tCt>tTt	p.S320F	ZNF229_uc010ejk.1_5'UTR|ZNF229_uc010ejl.1_Missense_Mutation_p.S314F	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	320					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				ACTCTTAACAGATTTCTCTCC	0.493000														17			9		0	0	0.000274275	0	0
HSD3B2	3284	broad.mit.edu	37	1	119962127	119962127	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:119962127G>A	uc001ehs.3	+	1	1002	c.229G>A	c.(229-231)Gtc>Atc	p.V77I	HSD3B2_uc021ost.1_Missense_Mutation_p.V77I|HSD3B2_uc001eht.3_Missense_Mutation_p.V77I|HSD3B2_uc001ehu.3_Missense_Mutation_p.V77I	NM_001166120	NP_001159592	P26439	3BHS2_HUMAN	Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 (HSD3B2), transcript variant 2, mRNA.	77					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	p.S76L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	GGACGTCTCGGTCGTCATCCA	0.502000														22			11		0	0	0.000219431	0	0
KIAA0319	9856	broad.mit.edu	37	6	24576703	24576704	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:24576703_24576704GG>TT	uc011djo.2	-	9	2126_2127	c.1626_1627CC>AA	c.(1624-1629)ccccaa>ccAAaa	p.Q543K	KIAA0319_uc011djp.2_Missense_Mutation_p.Q498K|KIAA0319_uc003neh.1_Missense_Mutation_p.Q543K|KIAA0319_uc011djq.1_Missense_Mutation_p.Q534K|KIAA0319_uc011djr.1_Missense_Mutation_p.Q543K|KIAA0319_uc010jpt.1_5'UTR	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	543	PKD 3.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	p.Q543K(2)		breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						ATGGAGTTTTGGGGCAAAGTTA	0.495000														293			12		0	0	6.4e-05	0	0
VSTM4	196740	broad.mit.edu	37	10	50315776	50315776	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:50315776C>T	uc001jhf.2	-	1	349	c.320G>A	c.(319-321)gGg>gAg	p.G107E	VSTM4_uc001jhh.2_Missense_Mutation_p.G107E	NM_001031746	NP_001026916	Q8IW00	CJ072_HUMAN	Homo sapiens V-set and transmembrane domain containing 4 (VSTM4), transcript variant 1, mRNA.	107	Ig-like.					integral to membrane|plasma membrane		p.R106W(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						GTAGAGCGCCCCCCGCTGCTC	0.602000														46			35		0	0	0.000953801	0	0
ACAP3	116983	broad.mit.edu	37	1	1236057	1236057	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:1236057G>A	uc001aeb.2	-	5	428	c.354C>T	c.(352-354)ttC>ttT	p.F118F	ACAP3_uc001ady.2_5'Flank|ACAP3_uc001aea.2_Silent_p.F76F|ACAP3_uc001aec.1_Silent_p.F76F	NM_030649	NP_085152	Q96P50	ACAP3_HUMAN	Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 (ACAP3), mRNA.	118					filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity|zinc ion binding			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						TTGTCTCCTTGAACTTCCGCA	0.617000														31			20		0	0	0.000375601	0	0
AGBL1	123624	broad.mit.edu	37	15	86807958	86807958	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:86807958G>A	uc002blz.1	+	9	1498	c.1418G>A	c.(1417-1419)aGa>aAa	p.R473K	AGBL1_uc002bma.1_Missense_Mutation_p.R204K|AGBL1_uc002bmb.1_Missense_Mutation_p.R167K	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	473					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						GCCAAAGCCAGAAGAACCAGC	0.478000														50			48		0	0	0.000781405	0	0
HTR1E	3354	broad.mit.edu	37	6	87725508	87725508	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:87725508C>T	uc003pli.3	+	1	1159	c.456C>T	c.(454-456)ttC>ttT	p.F152F	HTR1E_uc021zcg.1_Silent_p.F152F	NM_000865	NP_000856	P28566	5HT1E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1E (HTR1E), mRNA.	152					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	TCTCCATTTTCATCTCCATGC	0.552000														11			26		0	0	0.00106085	0	0
SULF1	23213	broad.mit.edu	37	8	70488375	70488375	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr8:70488375C>T	uc003xyg.2	+	4	904	c.343C>T	c.(343-345)Ccc>Tcc	p.P115S	SULF1_uc010lza.1_Missense_Mutation_p.P115S|SULF1_uc003xyd.2_Missense_Mutation_p.P115S|SULF1_uc003xye.2_Missense_Mutation_p.P115S|SULF1_uc003xyf.2_Missense_Mutation_p.P115S	NM_001128206	NP_055985	Q8IWU6	SULF1_HUMAN	Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA.	115					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CTGCTCTTCCCCCTCGTGGCA	0.517000														33			25		0	0	0.00047179	0	0
GRM3	2913	broad.mit.edu	37	7	86468384	86468384	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:86468384G>A	uc003uid.3	+	3	2653	c.1554G>A	c.(1552-1554)atG>atA	p.M518I	GRM3_uc010lef.3_Intron|GRM3_uc010leg.3_Missense_Mutation_p.M390I|GRM3_uc010leh.3_Missense_Mutation_p.M110I	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	518					synaptic transmission	integral to plasma membrane		p.M518I(2)|p.E517K(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CCAATGAAATGAAGAATATGC	0.522000														20			19		0	0	0.00121646	0	0
NLRP3	114548	broad.mit.edu	37	1	247607377	247607377	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:247607377G>A	uc001icr.3	+	8	2911	c.2773G>A	c.(2773-2775)Gga>Aga	p.G925R	NLRP3_uc001ics.3_Missense_Mutation_p.G868R|NLRP3_uc001icu.3_Missense_Mutation_p.G925R|NLRP3_uc001icw.3_Missense_Mutation_p.G868R|NLRP3_uc001icv.3_Missense_Mutation_p.G811R|NLRP3_uc010pyw.2_Missense_Mutation_p.G903R	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	925					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.G925*(2)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CAACACTCTCGGAGACAAGGG	0.493000														55			24		0	0	0.00106085	0	0
TIE1	7075	broad.mit.edu	37	1	43783308	43783308	+	Silent	SNP	C	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:43783308C>A	uc001ciu.3	+	15	2871	c.2694C>A	c.(2692-2694)ccC>ccA	p.P898P	TIE1_uc010oke.2_Silent_p.P853P|TIE1_uc009vwq.3_Silent_p.P854P|TIE1_uc010okg.2_Silent_p.P543P	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	898	Protein kinase.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGCATCACCCCAACATCATCA	0.507000														126			7		5.18039e-06	2.37174e-05	0.000157383	1	0
KIF13A	63971	broad.mit.edu	37	6	17817388	17817388	+	Silent	SNP	C	G	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:17817388C>G	uc003ncg.4	-	16	2023	c.1863G>C	c.(1861-1863)cgG>cgC	p.R621R	KIF13A_uc003ncf.3_Silent_p.R621R|KIF13A_uc003nch.4_Silent_p.R621R|KIF13A_uc003nci.4_Silent_p.R621R|KIF13A_uc003ncj.3_Silent_p.R297R	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	621					Golgi to plasma membrane protein transport|cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CATACATGAGCCGCTGCTCCT	0.567000														51			31		0	0	0.000491102	0	0
IL1R2	7850	broad.mit.edu	37	2	102644761	102644761	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:102644761G>A	uc002tbm.3	+	8	1333	c.1104G>A	c.(1102-1104)tgG>tgA	p.W368*	IL1R2_uc002tbn.3_Nonsense_Mutation_p.W368*	NM_004633	NP_775465	P27930	IL1R2_HUMAN	Homo sapiens interleukin 1 receptor, type II (IL1R2), transcript variant 1, mRNA.	368					immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	GGGGAATATGGATGCACAGAC	0.498000														34			30		0	0	0.0024448	0	0
FAM5C	339479	broad.mit.edu	37	1	190424010	190424010	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:190424010C>T	uc001gse.1	-	1	243	c.11G>A	c.(10-12)cGa>cAa	p.R4Q	FAM5C_uc010pot.1_5'UTR	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	4						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					AGCTCTGCTTCGCCATATCAT	0.463000														10			21		0	0	0.00229938	0	0
CYP4B1	1580	broad.mit.edu	37	1	47283637	47283637	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:47283637G>A	uc001cqn.4	+	10	1292	c.1208_splice	c.e10-1	p.G403_splice	CYP4B1_uc001cqm.4_Splice_Site_p.G402_splice|CYP4B1_uc009vym.3_Splice_Site_p.G388_splice|CYP4B1_uc010omk.2_Splice_Site_p.G239_splice	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.	402					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					CTGCCCACAGGAAGCCTGATC	0.572000														74			31		0	0	0.00111076	0	0
PHF7	51533	broad.mit.edu	37	3	52456886	52456886	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:52456886C>T	uc003ddy.3	+	9	1714	c.908C>T	c.(907-909)gCt>gTt	p.A303V	PHF7_uc003ddz.3_Missense_Mutation_p.A264V	NM_016483	NP_057567	Q9BWX1	PHF7_HUMAN	Homo sapiens PHD finger protein 7 (PHF7), transcript variant 1, mRNA.	303						nucleus	zinc ion binding			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		TGTTCACCTGCTGCAGCCACA	0.577000														67			40		0	0	0.00170553	0	0
MYOM2	9172	broad.mit.edu	37	8	2021490	2021490	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr8:2021490C>T	uc003wpx.4	+	9	1168	c.1030C>T	c.(1030-1032)Cac>Tac	p.H344Y	MYOM2_uc011kwi.2_Intron	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	344	Ig-like C2-type 2.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GTCCTTCAGCCACCTGCACAA	0.592000														13			26		0	0	0.000878237	0	0
C5orf25	375484	broad.mit.edu	37	5	175772292	175772292	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:175772292G>A	uc003mds.4	+	11	2870	c.2463G>A	c.(2461-2463)caG>caA	p.Q821Q	C5orf25_uc003mdr.3_Non-coding_Transcript|C5orf25_uc003mdt.4_Silent_p.Q406Q|C5orf25_uc003mdv.3_Silent_p.Q282Q			Q8NDZ2	CE025_HUMAN	Homo sapiens chromosome 5 open reading frame 25 (C5orf25), mRNA.	821												all_cancers(89;0.00381)|Renal(175;0.000269)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.119)		TAGAGAAGCAGATTGAGGCCT	0.507000														42			21		0	0	0.00152264	0	0
YEATS2	55689	broad.mit.edu	37	3	183515738	183515738	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:183515738C>T	uc003fly.2	+	21	3320	c.3125C>T	c.(3124-3126)tCc>tTc	p.S1042F		NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	Homo sapiens YEATS domain containing 2 (YEATS2), mRNA.	1042					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TCCAGTCAGTCCAGTCCGCAG	0.498000														24			13		0	0	0.00185496	0	0
HRNR	388697	broad.mit.edu	37	1	152187528	152187528	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:152187528C>T	uc001ezt.1	-	2	6653	c.6577G>A	c.(6577-6579)Ggg>Agg	p.G2193R		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	2193					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGGAGTGCCCCGAACCGGAC	0.637000														271			28		0	0	0.000491102	0	0
HERC1	8925	broad.mit.edu	37	15	63920935	63920935	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:63920935G>T	uc002amp.3	-	69	13194	c.13046C>A	c.(13045-13047)tCg>tAg	p.S4349*		NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	4349					protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GCGGCCAGCCGAGATCTGCCG	0.507000														63			6		0.00116845	0.00528496	0.00116845	1	0
MANSC1	54682	broad.mit.edu	37	12	12496028	12496028	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:12496028G>A	uc001rai.1	-	1	479	c.221C>T	c.(220-222)tCa>tTa	p.S74L	MANSC1_uc001raj.1_Missense_Mutation_p.S40L	NM_018050	NP_060520	Q9H8J5	MANS1_HUMAN	Homo sapiens MANSC domain containing 1 (MANSC1), mRNA.	74	MANSC.					integral to membrane				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		CTATTTACCTGATATGTTTTT	0.408000														56			24		0	0	0.00047179	0	0
EPHA10	284656	broad.mit.edu	37	1	38187513	38187513	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:38187513C>T	uc009vvi.3	-	10	2051	c.1965G>A	c.(1963-1965)cgG>cgA	p.R655R	EPHA10_uc001cbt.3_5'Flank|EPHA10_uc009vvh.2_Non-coding_Transcript|EPHA10_uc001cbu.3_Non-coding_Transcript|EPHA10_uc001cbv.2_Non-coding_Transcript	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	655	Protein kinase.					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCTCCCCAAACCGCCCTGTGG	0.652000														8			3		0	0	0.00024832	0	0
GEMIN5	25929	broad.mit.edu	37	5	154316593	154316593	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:154316593G>C	uc003lvx.3	-	1	402	c.319C>G	c.(319-321)Ctc>Gtc	p.L107V	GEMIN5_uc011ddk.1_Missense_Mutation_p.L107V	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 5 (GEMIN5), transcript variant 1, mRNA.	107					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ACCTGATGGAGTGCATGTTCT	0.463000														85			39		0	0	0.00195071	0	0
JMJD1C	221037	broad.mit.edu	37	10	64974730	64974730	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:64974730A>T	uc001jmn.3	-	7	1497	c.1197T>A	c.(1195-1197)aaT>aaA	p.N399K	JMJD1C_uc001jml.3_Missense_Mutation_p.N180K|JMJD1C_uc001jmm.3_Missense_Mutation_p.N111K|JMJD1C_uc010qiq.2_Missense_Mutation_p.N217K|JMJD1C_uc009xpi.3_Missense_Mutation_p.N217K|JMJD1C_uc009xpj.2_Non-coding_Transcript|JMJD1C_uc001jmp.1_Missense_Mutation_p.N111K	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.	399					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TTTTCAATTCATTCTCTGGCT	0.348000														42			27		0	0	0.000586117	0	0
AHNAK2	113146	broad.mit.edu	37	14	105418164	105418164	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:105418164G>A	uc010axc.1	-	6	3744	c.3624C>T	c.(3622-3624)acC>acT	p.T1208T	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.T1108T	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	1208						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGAGGTCAGTGGTCTTGAGGT	0.657000														18			47		0	0	0.000781405	0	0
DNAH7	56171	broad.mit.edu	37	2	196852704	196852704	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:196852704C>T	uc002utj.4	-	12	1704	c.1603G>A	c.(1603-1605)Gaa>Aaa	p.E535K		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	535	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TACTGTATTTCCTCTATTAGT	0.328000														27			13		0	0	0.000308642	0	0
ASXL3	80816	broad.mit.edu	37	18	31325947	31325947	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr18:31325947C>T	uc010dmg.1	+	11	6190	c.6135C>T	c.(6133-6135)ctC>ctT	p.L2045L	ASXL3_uc002kxq.2_Silent_p.L1752L	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	2045	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ctccacctcTCCCTAATGCAG	0.582000														8			5		0	0	0.000602214	0	0
OR52R1	119695	broad.mit.edu	37	11	4825415	4825415	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:4825415G>A	uc021qcs.1	-	0	196	c.196C>T	c.(196-198)Ctg>Ttg	p.L66L		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily R, member 1 (OR52R1), mRNA.	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGCATGGCCAGAAAGAGGTAC	0.498000														21			9		0	0	0.000274275	0	0
ITLN2	142683	broad.mit.edu	37	1	160914959	160914959	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:160914959C>T	uc001fxd.3	-	7	1007	c.949G>A	c.(949-951)Gag>Aag	p.E317K	ITLN2_uc009wts.3_Missense_Mutation_p.E316K|ITLN2_uc010pju.2_Missense_Mutation_p.E234K	NM_080878	NP_543154	Q8WWU7	ITLN2_HUMAN	Homo sapiens intelectin 2 (ITLN2), mRNA.	317					signal transduction	extracellular region	receptor binding|sugar binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			ACAGCCGCCTCCGTTATCTCC	0.547000														46			16		0	0	0.000958276	0	0
CFTR	1080	broad.mit.edu	37	7	117174389	117174389	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:117174389C>T	uc003vjd.3	+	4	681	c.549C>T	c.(547-549)ctC>ctT	p.L183L	CFTR_uc011knq.2_5'UTR	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	183	ABC transmembrane type-1 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TTGTTAGTCTCCTTTCCAACA	0.303000									Cystic Fibrosis					30			16		0	0	0.000958276	0	0
SLC22A2	6582	broad.mit.edu	37	6	160664693	160664693	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:160664693G>A	uc003qtf.3	-	6	1364	c.1190C>T	c.(1189-1191)aCc>aTc	p.T397I		NM_003058	NP_003049	O15244	S22A2_HUMAN	Homo sapiens solute carrier family 22 (organic cation transporter), member 2 (SLC22A2), mRNA.	397					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)		GCGGTCGATGGTGAGGATGAT	0.522000														21			31		0	0	0.00178596	0	0
ST8SIA4	7903	broad.mit.edu	37	5	100147758	100147758	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:100147758G>A	uc003knk.3	-	4	1201	c.873C>T	c.(871-873)ttC>ttT	p.F291F		NM_005668	NP_005659	Q92187	SIA8D_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 (ST8SIA4), transcript variant 1, mRNA.	291					N-glycan processing|axon guidance	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	p.F291L(2)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		TTTCATCACAGAATCTTGTGG	0.363000														48			36		0	0	0.00111076	0	0
KRT74	121391	broad.mit.edu	37	12	52963700	52963700	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:52963700C>T	uc001sap.1	-	5	1125	c.1077G>A	c.(1075-1077)gtG>gtA	p.V359V		NM_175053	NP_778223	Q7RTS7	K2C74_HUMAN	Homo sapiens keratin 74 (KRT74), mRNA.	359	Coil 2.|Rod.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		GGTTCAGCTCCACCATCTCGC	0.582000														34			18		0	0	0.000566183	0	0
GREB1	9687	broad.mit.edu	37	2	11750946	11750946	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:11750946G>A	uc002rbk.1	+	17	3099	c.2799G>A	c.(2797-2799)caG>caA	p.Q933Q	GREB1_uc002rbo.1_Silent_p.Q567Q|GREB1_uc002rbp.1_5'Flank	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	Homo sapiens growth regulation by estrogen in breast cancer 1 (GREB1), transcript variant a, mRNA.	933						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		AGATCACGCAGAACCTCCTCA	0.662000														18			16		0	0	0.000422831	0	0
CCDC147	159686	broad.mit.edu	37	10	106153090	106153090	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:106153090G>A	uc001kyh.3	+	10	1665	c.1531G>A	c.(1531-1533)Gaa>Aaa	p.E511K		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	Homo sapiens coiled-coil domain containing 147 (CCDC147), mRNA.	511										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		TGGTTAGGATGAAATAACAGA	0.378000														30			16		0	0	0.00074312	0	0
PCYT2	5833	broad.mit.edu	37	17	79863007	79863007	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:79863007G>A	uc002kcf.2	-	11	1102	c.993C>T	c.(991-993)ttC>ttT	p.F331F	PCYT2_uc010wvb.2_Silent_p.F299F|PCYT2_uc002kce.2_Silent_p.F253F|PCYT2_uc002kch.2_Silent_p.F349F|PCYT2_uc002kci.2_Silent_p.F290F|PCYT2_uc010wvc.2_Silent_p.F253F	NM_002861	NP_002852	Q99447	PCY2_HUMAN	Homo sapiens phosphate cytidylyltransferase 2, ethanolamine (PCYT2), transcript variant 2, mRNA.	331	Catalytic 2 (Potential).				phospholipid biosynthetic process		ethanolamine-phosphate cytidylyltransferase activity			breast(2)|endometrium(1)|lung(4)|ovary(1)	8	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CAATCTGACGGAAGATGCCCC	0.622000														13			13		0	0	0.00074312	0	0
ZZEF1	23140	broad.mit.edu	37	17	3977629	3977629	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:3977629G>A	uc002fxe.3	-	23	3564	c.3500C>T	c.(3499-3501)gCc>gTc	p.A1167V		NM_015113	NP_055928	O43149	ZZEF1_HUMAN	Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.	1167							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CCGAGGACCGGCCTTGAAGGT	0.498000											OREG0024096	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		29			51		0	0	0.000781405	0	0
SLC27A5	10998	broad.mit.edu	37	19	59010878	59010878	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:59010878G>A	uc002qtc.2	-	6	1758	c.1648C>T	c.(1648-1650)Cgc>Tgc	p.R550C	SLC27A5_uc002qtb.3_5'Flank	NM_012254	NP_036386	Q9Y2P5	S27A5_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 5 (SLC27A5), mRNA.	550					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		TCCCCGAGGCGGTCGCGGAAG	0.657000														29			25		0	0	0.00106085	0	0
ZNF583	147949	broad.mit.edu	37	19	56935483	56935483	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:56935483C>T	uc010ygl.1	+	4	1621	c.1456C>T	c.(1456-1458)Cat>Tat	p.H486Y	ZNF583_uc002qnc.2_Missense_Mutation_p.H486Y|ZNF583_uc010ygm.1_Missense_Mutation_p.H486Y	NM_001159860	NP_689691	Q96ND8	ZN583_HUMAN	Homo sapiens zinc finger protein 583 (ZNF583), transcript variant 2, mRNA.	486					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		TCAGAGAATTCATACTGGAGA	0.383000														38			25		0	0	0.000720815	0	0
CALML3	810	broad.mit.edu	37	10	5567221	5567221	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:5567221G>A	uc001iie.1	+	0	298	c.173G>A	c.(172-174)cGg>cAg	p.R58Q	AK128534_uc001iid.1_5'Flank	NM_005185	NP_005176	P27482	CALL3_HUMAN	Homo sapiens calmodulin-like 3 (CALML3), mRNA.	58	EF-hand 2.						calcium ion binding			endometrium(3)|lung(2)	5						GAGATCGACCGGGACGGCAAC	0.662000														15			10		0	0	0.00136819	0	0
BMP7	655	broad.mit.edu	37	20	55803385	55803385	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:55803385C>T	uc010gip.1	-	1	1040	c.511G>A	c.(511-513)Gca>Aca	p.A171T	BMP7_uc002xyc.3_Missense_Mutation_p.A171T	NM_001719	NP_001710	P18075	BMP7_HUMAN	Homo sapiens bone morphogenetic protein 7 (BMP7), mRNA.	171					BMP signaling pathway|SMAD protein signal transduction|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of MAP kinase activity|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of glomerular mesangial cell proliferation|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			AATTCGGCTGCCGTGACAGCT	0.532000														84			149		0	0	0.000781405	0	0
SCN9A	6335	broad.mit.edu	37	2	167060676	167060676	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:167060676G>A	uc010fpl.3	-	25	4871	c.4530C>T	c.(4528-4530)atC>atT	p.I1510I	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1521						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TAAGAACCATGATACTAATAT	0.323000														44			27		0	0	0.000720815	0	0
PRKACG	5568	broad.mit.edu	37	9	71628039	71628039	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:71628039C>T	uc004agy.3	-	0	1001	c.970G>A	c.(970-972)Gat>Aat	p.D324N		NM_002732	NP_002723	P22612	KAPCG_HUMAN	Homo sapiens protein kinase, cAMP-dependent, catalytic, gamma (PRKACG), mRNA.	324	AGC-kinase C-terminal.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						TTACTGGCATCCCCAGGGCCT	0.522000														47			27		0	0	0.00209593	0	0
FAM5B	57795	broad.mit.edu	37	1	177199273	177199273	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:177199273G>A	uc001glf.3	+	1	573	c.261G>A	c.(259-261)agG>agA	p.R87R		NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	87						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						CCAGGTACAGGATTTATAGGT	0.612000														66			22		0	0	0.000720815	0	0
IGSF9	57549	broad.mit.edu	37	1	159912790	159912790	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:159912790G>A	uc001fur.2	-	2	408	c.210C>T	c.(208-210)ttC>ttT	p.F70F	IGSF9_uc001fuq.2_Silent_p.F70F	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	Homo sapiens immunoglobulin superfamily, member 9 (IGSF9), transcript variant 1, mRNA.	70	Ig-like 1.					cell junction|integral to membrane|synapse		p.F70F(2)		central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			AGTAGAGGCCGAACTGGATGA	0.602000														69			17		0	0	0.00152264	0	0
RGS7	6000	broad.mit.edu	37	1	241262011	241262011	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:241262011G>A	uc001hyv.2	-	2	460	c.130C>T	c.(130-132)Cgt>Tgt	p.R44C	RGS7_uc010pyh.2_Missense_Mutation_p.R18C|RGS7_uc010pyj.1_5'UTR|RGS7_uc001hyu.2_Missense_Mutation_p.R44C|RGS7_uc009xgn.1_Missense_Mutation_p.R44C|RGS7_uc001hyw.2_Missense_Mutation_p.R44C	NM_002924	NP_002915	P49802	RGS7_HUMAN	Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA.	44	DEP.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	p.R44S(3)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TTGACCGTACGAATAGGAATT	0.358000														55			14		0	0	0.00074312	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117365238	117365238	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:117365238T>C	uc003vjf.3	-	17	4221	c.4129A>G	c.(4129-4131)Aaa>Gaa	p.K1377E		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.	1377										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GGTTGTCTTTTCACAGAGGCT	0.502000														127			76		0	0	0.000781405	0	0
PSMD13	5719	broad.mit.edu	37	11	244428	244428	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:244428C>T	uc001loo.2	+	2	516	c.274C>T	c.(274-276)Cct>Tct	p.P92S	PSMD13_uc010qvr.1_Non-coding_Transcript|PSMD13_uc001lol.2_Missense_Mutation_p.P90S|PSMD13_uc001lon.2_Missense_Mutation_p.P25S	NM_175932	NP_787128	Q9UNM6	PSD13_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 13 (PSMD13), transcript variant 2, mRNA.	90					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	proteasome regulatory particle	protein binding			NS(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	10		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.79e-27)|Epithelial(43;4e-26)|OV - Ovarian serous cystadenocarcinoma(40;6.02e-21)|BRCA - Breast invasive adenocarcinoma(625;3.93e-05)|Lung(200;0.112)|LUSC - Lung squamous cell carcinoma(625;0.129)		TTTTCCAGATCCTAATGTGGC	0.398000														34			21		0	0	0.000375601	0	0
PTPRE	5791	broad.mit.edu	37	10	129846043	129846043	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:129846043G>A	uc009yat.3	+	5	675	c.258G>A	c.(256-258)agG>agA	p.R86R	PTPRE_uc001lkb.3_Silent_p.R75R|PTPRE_uc010qup.1_Non-coding_Transcript|PTPRE_uc009yau.2_Silent_p.R75R|PTPRE_uc001lkc.1_Non-coding_Transcript|PTPRE_uc001lkd.3_Silent_p.R17R|PTPRE_uc010quq.1_5'Flank	NM_006504	NP_006495	P23469	PTPRE_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, E (PTPRE), transcript variant 1, mRNA.	75					negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				GGAAGCAGAGGAAAGCTGTGG	0.552000														34			22		0	0	0.000375601	0	0
ABCA8	10351	broad.mit.edu	37	17	66903943	66903943	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:66903943G>A	uc002jhq.3	-	17	2556	c.2216C>T	c.(2215-2217)tCa>tTa	p.S739L	ABCA8_uc002jhp.3_Missense_Mutation_p.S699L|ABCA8_uc010wqq.2_Missense_Mutation_p.S739L|ABCA8_uc010wqr.2_Missense_Mutation_p.S678L|ABCA8_uc002jhr.3_Missense_Mutation_p.S739L	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	699						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GCTTTTGGCTGATAATTTGGC	0.313000														29			35		0	0	0.000814825	0	0
VIL1	7429	broad.mit.edu	37	2	219292982	219292982	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:219292982G>A	uc002vib.3	+	4	511	c.489G>A	c.(487-489)ggG>ggA	p.G163G	VIL1_uc010zke.2_Intron|VIL1_uc002via.3_Silent_p.G163G|VIL1_uc002vic.1_Silent_p.G163G	NM_007127	NP_009058	P09327	VILI_HUMAN	Homo sapiens villin 1 (VIL1), mRNA.	163	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCAACCGAGGGGATGTTTTCC	0.547000														41			29		0	0	0.00209593	0	0
KIF20B	9585	broad.mit.edu	37	10	91469688	91469688	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:91469688T>C	uc001kgs.1	+	4	428	c.356T>C	c.(355-357)tTt>tCt	p.F119S	KIF20B_uc001kgr.1_Missense_Mutation_p.F119S	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN	Homo sapiens kinesin family member 20B (KIF20B), mRNA.	119	Kinesin-motor.				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|WW domain binding|microtubule motor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						GCTTAGGTTTTTGGCCCAGCA	0.333000														38			21		0	0	0.00188189	0	0
EPHA6	285220	broad.mit.edu	37	3	96706675	96706675	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:96706675G>C	uc010how.1	+	2	995	c.952G>C	c.(952-954)Gtt>Ctt	p.V318L	EPHA6_uc003drp.1_Missense_Mutation_p.V318L	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	223						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CATTCCAAGGGTTGATTCCTC	0.483000														70			43		0	0	0.000680045	0	0
AK024141	0	broad.mit.edu	37	14	73079209	73079209	+	RNA	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:73079209C>T	uc010arh.1	-	0		c.595G>A								Homo sapiens cDNA FLJ14079 fis, clone HEMBB1002134, weakly similar to ZINC-FINGER PROTEIN NEURO-D4.																		GGTATATTTTCTTTTTCCTAT	0.453000														119			57		0	0	0.000781405	0	0
CYP1A2	1544	broad.mit.edu	37	15	75044176	75044176	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:75044176G>A	uc002ayr.1	+	3	1087	c.1023G>A	c.(1021-1023)agG>agA	p.R341R		NM_000761	NP_000752	P05177	CP1A2_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 2 (CYP1A2), mRNA.	341					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	AGATACAGAGGAAGATCCAGA	0.512000														44			25		0	0	0.000720815	0	0
OR10H1	26539	broad.mit.edu	37	19	15918036	15918036	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:15918036C>T	uc002nbq.2	-	0	901	c.812G>A	c.(811-813)gGa>gAa	p.G271E		NM_013940	NP_039228	Q9Y4A9	O10H1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 1 (OR10H1), mRNA.	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						CAAGGTGTCTCCTTCCAGAGA	0.557000														16			16		0	0	0.000566183	0	0
ITGA11	22801	broad.mit.edu	37	15	68643004	68643005	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:68643004_68643005GG>AA	uc010bib.3	-	8	1097_1098	c.1010_1011CC>TT	c.(1009-1011)gcc>gTT	p.A337V	ITGA11_uc002ari.3_Missense_Mutation_p.A337V	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	Homo sapiens integrin, alpha 11 (ITGA11), mRNA.	337	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	TGTCCTTCAAGGCAGCCTCATC	0.485000														44			16		0	0	6.4e-05	0	0
TTN	7273	broad.mit.edu	37	2	179643790	179643790	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:179643790T>C	uc021vsy.1	-	23	4244	c.4019A>G	c.(4018-4020)gAc>gGc	p.D1340G	TTN_uc021vsz.1_Missense_Mutation_p.D1294G|TTN_uc021vta.1_Missense_Mutation_p.D1294G|TTN_uc021vtb.1_Missense_Mutation_p.D1294G|TTN_uc002unb.2_Missense_Mutation_p.D1340G|AK123298_uc002unc.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1340	Ig-like 5.						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)			TTGTAGAAAGTCCATTTGGTA	0.378000														13			10		0	0	0.000673444	0	0
CCDC73	493860	broad.mit.edu	37	11	32705120	32705120	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:32705120C>T	uc001mtv.3	-	7	435	c.391_splice	c.e7-1	p.V131_splice	CCDC73_uc001mtw.1_Splice_Site_p.V131_splice|CCDC73_uc009yjt.3_Splice_Site_p.V131_splice	NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	Homo sapiens coiled-coil domain containing 73 (CCDC73), mRNA.	131										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TATTTAGAAACCTTGAAAAAT	0.323000														31			13		0	0	0.000308642	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140711004	140711005	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:140711004_140711005CC>TT	uc003lji.2	+	0	753_754	c.753_754CC>TT	c.(751-756)gtcccc>gtTTcc	p.P252S	PCDHGC5_uc011dan.2_Missense_Mutation_p.P252S	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	252	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATATAAATGTCCCCGAAAACGT	0.485000														35			22		0	0	6.4e-05	0	0
OR52I2	143502	broad.mit.edu	37	11	4608408	4608408	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:4608408C>T	uc010qyh.2	+	0	388	c.366C>T	c.(364-366)atC>atT	p.I122I		NM_001005170	NP_001005170	Q8NH67	O52I2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily I, member 2 (OR52I2), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACAGCTCAATCAGCTTTAGTG	0.502000														39			21		0	0	0.00188189	0	0
GPS2	2874	broad.mit.edu	37	17	7227268	7227268	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:7227268G>A	uc002gga.1	-	11	2133	c.2126C>T	c.(2125-2127)tCc>tTc	p.S709F	GPS2_uc002ggb.1_Missense_Mutation_p.S709F|GPS2_uc002ggc.1_Missense_Mutation_p.S55F	NM_032442	NP_115818	Q13227	GPS2_HUMAN	Homo sapiens neuralized homolog 4 (Drosophila) (NEURL4), transcript variant 1, mRNA.	0					JNK cascade|cell cycle|inactivation of MAPK activity|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				GGCCCCTGAGGACGGAGAGCT	0.617000											OREG0024134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		13			20		0	0	0.000375601	0	0
CRISP1	167	broad.mit.edu	37	6	49806193	49806193	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:49806193G>A	uc003ozw.2	-	6	658	c.579C>T	c.(577-579)gtC>gtT	p.V193V	CRISP1_uc003ozx.2_Intron|CRISP1_uc021zaj.1_Silent_p.V193V	NM_001131	NP_001192149	P54107	CRIS1_HUMAN	Homo sapiens cysteine-rich secretory protein 1 (CRISP1), transcript variant 1, mRNA.	193					fusion of sperm to egg plasma membrane	extracellular space		p.V193V(2)		endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					CTTCACATGGGACGCCTGTCT	0.363000														59			23		0	0	0.000878237	0	0
HSD17B3	3293	broad.mit.edu	37	9	99013708	99013708	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:99013708C>T	uc004awa.1	-	4	493	c.445G>A	c.(445-447)Gaa>Aaa	p.E149K	HSD17B3_uc010msc.1_Missense_Mutation_p.E149K	NM_000197	NP_000188	P37058	DHB3_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 3 (HSD17B3), mRNA.	149					androgen biosynthetic process|male genitalia development	endoplasmic reticulum membrane|microsome	binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)			NADH(DB00157)	ACCTGGATTTCATCCGGTGCG	0.488000														31			25		0	0	0.000878237	0	0
ALPK2	115701	broad.mit.edu	37	18	56203320	56203320	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr18:56203320C>T	uc002lhj.4	-	4	4313	c.4099G>A	c.(4099-4101)Gaa>Aaa	p.E1367K	ALPK2_uc002lhk.1_Missense_Mutation_p.E698K	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	1367							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TTAACATTTTCCTTCCCTCCA	0.453000														50			38		0	0	0.000509022	0	0
DSG2	1829	broad.mit.edu	37	18	29122532	29122532	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr18:29122532G>A	uc002kwu.4	+	13	2239	c.2051G>A	c.(2050-2052)aGa>aAa	p.R684K	LOC100652770_uc002kwv.4_Intron	NM_001943	NP_001934	Q14126	DSG2_HUMAN	Homo sapiens desmoglein 2 (DSG2), mRNA.	684					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CTAGTAGGAAGAAATGGAGTA	0.512000														26			24		0	0	0.000375601	0	0
FCGBP	8857	broad.mit.edu	37	19	40419872	40419873	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:40419872_40419873CC>TT	uc002omp.4	-	5	3129_3130	c.3121_3122GG>AA	c.(3121-3123)gga>AAa	p.G1041K		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	1041	VWFD 2.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TTCAGTTGCTCCACAGCCGGGC	0.639000														26			17		0	0	6.4e-05	0	0
OR1J4	26219	broad.mit.edu	37	9	125281758	125281758	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:125281758C>T	uc011lyw.2	+	0	339	c.339C>T	c.(337-339)ttC>ttT	p.F113F		NM_001004452	NP_001004452	Q8NGS1	OR1J4_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 4 (OR1J4), mRNA.	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						TAGACAATTTCCTTCTCACTT	0.408000														42			42		0	0	0.00195071	0	0
ENG	2022	broad.mit.edu	37	9	130588123	130588123	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:130588123G>A	uc004bsj.4	-	4	953	c.540C>T	c.(538-540)tcC>tcT	p.S180S	ENG_uc011mam.2_5'UTR|ENG_uc004bsk.4_Silent_p.S180S	NM_001114753	NP_001108225	P17813	EGLN_HUMAN	Homo sapiens endoglin (ENG), transcript variant 1, mRNA.	180					BMP signaling pathway|artery morphogenesis|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						GCATGCAGAAGGACAGTGACC	0.667000									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia					3			3		0	0	0.000602214	0	0
EI24	9538	broad.mit.edu	37	11	125446179	125446179	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:125446179C>T	uc009zbl.3	+	3	459	c.217C>T	c.(217-219)Cag>Tag	p.Q73*	EI24_uc001qca.3_Nonsense_Mutation_p.Q73*|EI24_uc001qcb.3_Nonsense_Mutation_p.Q73*|EI24_uc010sbd.2_Non-coding_Transcript|EI24_uc010sbe.2_Nonsense_Mutation_p.Q59*|EI24_uc010sbf.2_Non-coding_Transcript	NM_004879	NP_004870	O14681	EI24_HUMAN	Homo sapiens etoposide induced 2.4 mRNA (EI24), transcript variant 1, mRNA.	73					apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth	endoplasmic reticulum membrane|integral to membrane|nuclear membrane				large_intestine(1)|lung(9)|ovary(1)	11	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)		TAGAATTTTCCAGTGTTGTGC	0.358000														28			15		0	0	0.00121646	0	0
NOS3	4846	broad.mit.edu	37	7	150698429	150698429	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:150698429C>T	uc003wif.3	+	10	1640	c.1344C>T	c.(1342-1344)atC>atT	p.I448I	NOS3_uc011kuy.2_Silent_p.I242I|NOS3_uc011kva.2_Silent_p.I448I|NOS3_uc011kuz.2_Silent_p.I448I|NOS3_uc011kvb.2_Silent_p.I448I	NM_000603	NP_000594	P29474	NOS3_HUMAN	Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	448	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	Golgi membrane|caveola|cytoskeleton|cytosol	FMN binding|NADP binding|actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.I448I(2)		NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	GGGCCTGGATCGTGCCCCCCA	0.622000														40			24		0	0	0.000375601	0	0
SPEF2	79925	broad.mit.edu	37	5	35771755	35771755	+	Silent	SNP	A	G	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:35771755A>G	uc003jjo.3	+	26	3957	c.3846A>G	c.(3844-3846)gaA>gaG	p.E1282E	SPEF2_uc003jjp.1_Silent_p.E768E|SPEF2_uc003jjr.3_5'Flank	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1282					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAGAAAAAGAAAACCAGCCAG	0.398000														13			13		0	0	0.000219431	0	0
ZNF45	7596	broad.mit.edu	37	19	44417609	44417609	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:44417609C>T	uc002oxu.2	-	3	2078	c.1979G>A	c.(1978-1980)cGa>cAa	p.R660Q	ZNF45_uc002oxw.2_Missense_Mutation_p.R660Q	NM_003425	NP_003416	Q02386	ZNF45_HUMAN	Homo sapiens zinc finger protein 45 (ZNF45), mRNA.	660					multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						AGCATGGACTCGCTGATGAAT	0.443000														29			25		0	0	0.000720815	0	0
ARMC12	221481	broad.mit.edu	37	6	35704966	35704966	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:35704966G>A	uc003ola.3	+	0	108	c.81G>A	c.(79-81)gcG>gcA	p.A27A	FKBP5_uc010jvy.2_5'Flank|ARMC12_uc003olb.1_Silent_p.A27A	NM_145028	NP_659465	Q5T9G4	CF081_HUMAN	Homo sapiens armadillo repeat containing 12 (ARMC12), mRNA.	27							binding										GCGCCGGGGCGATCTACCTGC	0.597000											OREG0017379	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		18			11		0	0	0.000978159	0	0
ZCCHC14	23174	broad.mit.edu	37	16	87451258	87451258	+	Silent	SNP	A	C	C			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:87451258A>C	uc002fjz.1	-	7	807	c.780T>G	c.(778-780)ccT>ccG	p.P260P	ZCCHC14_uc002fka.1_Non-coding_Transcript|ZCCHC14_uc002fkb.3_Silent_p.P36P	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN	Homo sapiens zinc finger, CCHC domain containing 14 (ZCCHC14), mRNA.	260					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		GGGAGCAGTGAGGCAAGGGGG	0.692000														51			32		0	0	0.00178596	0	0
RTN4R	65078	broad.mit.edu	37	22	20229843	20229843	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr22:20229843G>A	uc002zrv.3	-	1	1014	c.813C>T	c.(811-813)ctC>ctT	p.L271L	RTN4R_uc002zru.3_Silent_p.L43L	NM_023004	NP_075380	Q9BZR6	RTN4R_HUMAN	Homo sapiens reticulon 4 receptor (RTN4R), mRNA.	271	LRRCT.				axonogenesis|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|cell surface|endoplasmic reticulum|plasma membrane	protein binding|receptor activity			lung(1)|ovary(1)|prostate(1)	3	Colorectal(54;0.0993)					GCCAGGCCCAGAGTGGGCGTG	0.682000														13			11		0	0	0.00185496	0	0
HCFC2	29915	broad.mit.edu	37	12	104497010	104497010	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:104497010C>T	uc001tkj.4	+	14	2441	c.2338C>T	c.(2338-2340)Cgg>Tgg	p.R780W	HCFC2_uc009zul.3_Non-coding_Transcript	NM_013320	NP_037452	Q9Y5Z7	HCFC2_HUMAN	Homo sapiens host cell factor C2 (HCFC2), mRNA.	780	Fibronectin type-III 3.				regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity	p.R780W(2)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TACACAAGTTCGGTGGCTTCA	0.358000														43			25		0	0	0.000586117	0	0
IL12A	3592	broad.mit.edu	37	3	159708099	159708099	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:159708099G>A	uc003fcx.3	+	2	485	c.264_splice	c.e2+1	p.K88_splice	AK097161_uc003fcw.1_Intron	NM_000882	NP_000873	P29459	IL12A_HUMAN	Homo sapiens interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35) (IL12A), mRNA.	54					cell cycle arrest|cell migration|defense response to Gram-positive bacterium|immune response|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of NK T cell activation|positive regulation of T cell mediated cytotoxicity|positive regulation of cell adhesion|positive regulation of interferon-gamma production|positive regulation of natural killer cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of smooth muscle cell apoptosis|positive regulation of tyrosine phosphorylation of Stat4 protein|response to UV-B|response to lipopolysaccharide|response to virus	interleukin-12 complex	cytokine activity|growth factor activity|interleukin-12 receptor binding|interleukin-27 binding|protein heterodimerization activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	9			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TGCTCCAGAAGGTGAGCCTTT	0.587000														21			20		0	0	0.00047179	0	0
NCLN	56926	broad.mit.edu	37	19	3207467	3207467	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:3207467G>A	uc002lxi.3	+	14	1786	c.1632_splice	c.e14+1	p.Q544_splice	NCLN_uc002lxh.1_Splice_Site|NCLN_uc002lxj.1_Splice_Site|NCLN_uc002lxk.3_Splice_Site_p.Q188_splice	NM_020170	NP_064555	Q969V3	NCLN_HUMAN	Homo sapiens nicalin (NCLN), mRNA.	544					proteolysis|regulation of signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	peptidase activity|protein binding			kidney(1)|lung(3)|skin(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGCTGTCCAGGTGAGCAGTG	0.667000														41			31		0	0	0.000491102	0	0
CACNA1E	777	broad.mit.edu	37	1	181687222	181687222	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:181687222C>T	uc009wxt.3	+	11	1752	c.1557C>T	c.(1555-1557)ttC>ttT	p.F519F	CACNA1E_uc001gow.3_Silent_p.F519F|CACNA1E_uc009wxs.3_Silent_p.F519F	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	519					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TGGGACTCTTCCTCTTGGAGA	0.463000														28			10		0	0	0.000442599	0	0
LOC649330	649330	broad.mit.edu	37	1	12907288	12907288	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:12907288G>A	uc010obf.2	-	1	1081	c.855C>T	c.(853-855)gaC>gaT	p.D285D	LOC649330_uc009vno.2_Silent_p.D285D	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	285							nucleic acid binding|nucleotide binding										CATTGGTGCTGTCTCTGTCAT	0.438000														133			49		0	0	0.000781405	0	0
GRXCR2	643226	broad.mit.edu	37	5	145246220	145246220	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:145246220C>T	uc003lns.1	-	1	408	c.408G>A	c.(406-408)atG>atA	p.M136I		NM_001080516	NP_001073985	A6NFK2	GRCR2_HUMAN	Homo sapiens glutaredoxin, cysteine rich 2 (GRXCR2), mRNA.	136										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						CTCTCTTGTCCATTGGGGTTC	0.418000														37			23		0	0	0.000375601	0	0
RDH16	8608	broad.mit.edu	37	12	57351000	57351000	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:57351000C>T	uc001smi.4	-	0	419	c.247G>A	c.(247-249)Gat>Aat	p.D83N	RDH16_uc009zpa.3_Missense_Mutation_p.G24E	NM_003708	NP_003699	O75452	RDH16_HUMAN	Homo sapiens retinol dehydrogenase 16 (all-trans) (RDH16), mRNA.	83					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						TTGGTAACATCCAGGGTCACC	0.592000														31			29		0	0	0.0024448	0	0
TMEM208	29100	broad.mit.edu	37	16	67262721	67262721	+	Silent	SNP	A	G	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:67262721A>G	uc002esi.2	+	4	427	c.321A>G	c.(319-321)ctA>ctG	p.L107L	LRRC29_uc002ese.3_5'Flank|LRRC29_uc002esf.3_5'Flank|LRRC29_uc002esg.3_5'Flank|LRRC29_uc010vjg.2_5'Flank|TMEM208_uc002esj.2_Non-coding_Transcript	NM_014187	NP_054906	Q9BTX3	TM208_HUMAN	Homo sapiens transmembrane protein 208 (TMEM208), mRNA.	107						integral to membrane				breast(1)|kidney(2)|lung(1)|upper_aerodigestive_tract(1)	5		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		ATGTGATCCTACTGACAGCCA	0.527000														55			33		0	0	0.000953801	0	0
IFNGR1	3459	broad.mit.edu	37	6	137519694	137519694	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:137519694G>A	uc003qho.2	-	6	1047	c.944C>T	c.(943-945)tCc>tTc	p.S315F	IFNGR1_uc011edm.1_Missense_Mutation_p.S287F	NM_000416	NP_000407	P15260	INGR1_HUMAN	Homo sapiens interferon gamma receptor 1 (IFNGR1), mRNA.	315					regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	CTTTTCTAAGGAAAATGGCTG	0.423000														6			8		0	0	0.000157383	0	0
MLL2	8085	broad.mit.edu	37	12	49425489	49425489	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:49425489C>T	uc001rta.4	-	38	12999	c.12999G>A	c.(12997-12999)gaG>gaA	p.E4333E		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	4333	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GGAGCTGGGCCTCAGTGGGAA	0.637000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				17			7		0	0	0.000157383	0	0
ACSBG2	81616	broad.mit.edu	37	19	6151757	6151757	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:6151757T>C	uc002mef.1	+	3	564	c.337T>C	c.(337-339)Ttt>Ctt	p.F113L	ACSBG2_uc002mee.1_5'UTR|ACSBG2_uc002meg.1_Missense_Mutation_p.F113L|ACSBG2_uc002meh.1_Missense_Mutation_p.F113L|ACSBG2_uc002mei.1_Missense_Mutation_p.F63L|ACSBG2_uc010xiz.1_Missense_Mutation_p.F113L	NM_030924	NP_112186	Q5FVE4	ACBG2_HUMAN	Homo sapiens acyl-CoA synthetase bubblegum family member 2 (ACSBG2), mRNA.	113					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	ATP binding|acyl-CoA thioesterase activity|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TATCCTGGGGTTTAACTCTGC	0.478000														9			6		0	0	0.000157383	0	0
ZBBX	79740	broad.mit.edu	37	3	167023676	167023676	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:167023676C>T	uc011bpc.2	-	16	1817	c.1480G>A	c.(1480-1482)Gaa>Aaa	p.E494K	ZBBX_uc003feq.3_Missense_Mutation_p.E465K|ZBBX_uc003fep.3_Missense_Mutation_p.E494K	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	494						intracellular	zinc ion binding	p.I493F(1)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TCAATTTTTTCAATGTCAGAA	0.318000														11			12		0	0	0.000308642	0	0
CCDC88C	440193	broad.mit.edu	37	14	91779427	91779427	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:91779427C>T	uc010aty.3	-	14	2887	c.2733G>A	c.(2731-2733)agG>agA	p.R911R		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	911					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TGCTCACCTCCCTCAGAGTTG	0.572000														16			9		0	0	0.000274275	0	0
DNAH5	1767	broad.mit.edu	37	5	13901544	13901544	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:13901544G>A	uc003jfd.2	-	13	1911	c.1869C>T	c.(1867-1869)atC>atT	p.I623I		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	623	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCTTTCCAGCGATGGGAGGCT	0.502000									Kartagener syndrome					22			10		0	0	0.000442599	0	0
PTPRN2	5799	broad.mit.edu	37	7	157959842	157959842	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:157959842G>A	uc003wno.3	-	5	812	c.691C>T	c.(691-693)Cct>Tct	p.P231S	PTPRN2_uc003wnp.3_Missense_Mutation_p.P214S|PTPRN2_uc003wnq.3_Missense_Mutation_p.P231S|PTPRN2_uc003wnr.3_Missense_Mutation_p.P193S|PTPRN2_uc011kwa.2_Missense_Mutation_p.P254S	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	231						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TCCACCTTAGGGCTGAGCTCA	0.697000														29			14		0	0	0.000422831	0	0
ALX3	257	broad.mit.edu	37	1	110604186	110604186	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:110604186C>T	uc001dzb.3	-	3	683	c.595_splice	c.e3-1	p.V199_splice		NM_006492	NP_006483	O95076	ALX3_HUMAN	Homo sapiens ALX homeobox 3 (ALX3), mRNA.	199						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGAACCAGACCTGGGGGCAGG	0.612000														33			10		0	0	0.000673444	0	0
STAB2	55576	broad.mit.edu	37	12	104044327	104044327	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:104044327C>T	uc001tjw.3	+	10	1414	c.1228C>T	c.(1228-1230)Cct>Tct	p.P410S		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	410	FAS1 1.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GGTGCTGTTACCTACAGACAA	0.428000														24			16		0	0	0.00121646	0	0
PRR23A	729627	broad.mit.edu	37	3	138724463	138724463	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:138724463G>A	uc011bms.2	-	0	648	c.648C>T	c.(646-648)ttC>ttT	p.F216F		NM_001134659	NP_001128131	A6NEV1	PR23A_HUMAN	Homo sapiens proline rich 23A (PRR23A), mRNA.	216	Pro-rich.									endometrium(3)|kidney(1)|lung(7)	11						ATTCCGGGTCGAAGAAGGGGC	0.662000														11			6		0	0	0.000157383	0	0
WNK2	65268	broad.mit.edu	37	9	96024118	96024118	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:96024118C>T	uc004ati.1	+	11	3089	c.3089C>T	c.(3088-3090)cCc>cTc	p.P1030L	WNK2_uc011lud.1_Missense_Mutation_p.P1030L|WNK2_uc004atj.3_Missense_Mutation_p.P1030L|WNK2_uc004atk.3_Missense_Mutation_p.P667L	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	1030					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CACCCAGCTCCCTATGCTGTG	0.701000														39			31		0	0	0.00128727	0	0
KIAA1804	84451	broad.mit.edu	37	1	233482261	233482261	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:233482261G>A	uc001hvt.4	+	1	1140	c.879G>A	c.(877-879)gcG>gcA	p.A293A	KIAA1804_uc001hvs.1_Silent_p.A293A	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	293	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity	p.A293V(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				TTGGGTTGGCGAGGGAATGGC	0.428000														35			17		0	0	0.000958276	0	0
RBP4	5950	broad.mit.edu	37	10	95360193	95360193	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:95360193G>A	uc001kit.3	-	3	396	c.312C>T	c.(310-312)ttC>ttT	p.F104F		NM_006744	NP_006735	P02753	RET4_HUMAN	Homo sapiens retinol binding protein 4, plasma (RBP4), mRNA.	104					cardiac muscle tissue development|embryonic organ morphogenesis|embryonic retina morphogenesis in camera-type eye|embryonic skeletal system development|female genitalia morphogenesis|gluconeogenesis|glucose homeostasis|heart trabecula formation|lung development|maintenance of gastrointestinal epithelium|negative regulation of cardiac muscle cell proliferation|positive regulation of immunoglobulin secretion|positive regulation of insulin secretion|response to retinoic acid|retinol metabolic process|urinary bladder development|uterus development|vagina development	extracellular space	protein binding|retinal binding|retinol binding			large_intestine(1)|lung(3)|skin(1)	5		Colorectal(252;0.122)			Vitamin A(DB00162)	ACTTCATCTTGAACTTGGCAG	0.577000														59			27		0	0	0.00058488	0	0
PRMT7	54496	broad.mit.edu	37	16	68349951	68349951	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:68349951C>T	uc002evy.2	+	2	413	c.69C>T	c.(67-69)caC>caT	p.H23H	PRMT7_uc010vlg.2_Silent_p.H23H	NM_019023	NP_061896	Q9NVM4	ANM7_HUMAN	Homo sapiens protein arginine methyltransferase 7 (PRMT7), transcript variant 1, mRNA.	23					DNA methylation involved in gamete generation|cell differentiation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		AGGATGAACACTATGATTACC	0.552000														59			29		0	0	0.001512	0	0
TRIM55	84675	broad.mit.edu	37	8	67066387	67066387	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr8:67066387G>A	uc003xvv.3	+	8	1568	c.1342G>A	c.(1342-1344)Ggc>Agc	p.G448S	TRIM55_uc003xvu.3_Missense_Mutation_p.G448S|TRIM55_uc003xvw.3_Intron|TRIM55_uc003xvx.3_Intron	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	Homo sapiens tripartite motif containing 55 (TRIM55), transcript variant 1, mRNA.	448						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			TTGGTATAAAGGCCAAACCCG	0.552000														30			16		0	0	0.000422831	0	0
NT5C1A	84618	broad.mit.edu	37	1	40131882	40131882	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:40131882G>A	uc001cdq.1	-	1	162	c.162C>T	c.(160-162)atC>atT	p.I54I		NM_032526	NP_115915	Q9BXI3	5NT1A_HUMAN	Homo sapiens 5'-nucleotidase, cytosolic IA (NT5C1A), mRNA.	54					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AGGACACAGCGATGGTGACTG	0.587000														24			8		0	0	0.000673444	0	0
COL1A1	1277	broad.mit.edu	37	17	48267367	48267367	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:48267367G>A	uc002iqm.3	-	35	2680	c.2554C>T	c.(2554-2556)Ccc>Tcc	p.P852S		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	852	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	CTCACAATGGGGCCAGGGGGT	0.652000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta							65			37		0	0	0.00195071	0	0
SLC1A1	6505	broad.mit.edu	37	9	4585316	4585316	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:4585316C>T	uc003zij.2	+	11	1586	c.1333C>T	c.(1333-1335)Cgg>Tgg	p.R445W	SPATA6L_uc003zik.3_Intron	NM_004170	NP_004161	P43005	EAA3_HUMAN	Homo sapiens solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 (SLC1A1), mRNA.	445					D-aspartate import|L-glutamate import|synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)	CCCCAGGGACCGGTTCAGGAC	0.507000														37			30		0	0	0.000491102	0	0
SERPINB2	5055	broad.mit.edu	37	18	61597398	61597398	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr18:61597398G>A	uc010xev.2	+	5	700	c.610G>A	c.(610-612)Gaa>Aaa	p.E204K	SERPINB2_uc010xew.2_Missense_Mutation_p.E204K	NM_005024	NP_005015	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 10 (SERPINB10), mRNA.	219					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	Golgi apparatus|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	AAACACCACAGAAAAGCCTTT	0.373000														33			20		0	0	0.000720815	0	0
KCNH2	3757	broad.mit.edu	37	7	150648062	150648062	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:150648062C>T	uc003wic.3	-	7	2493	c.2092G>A	c.(2092-2094)Gag>Aag	p.E698K	KCNH2_uc003wib.3_Missense_Mutation_p.E358K|KCNH2_uc011kux.2_Missense_Mutation_p.E602K|KCNH2_uc003wid.3_Missense_Mutation_p.E358K|KCNH2_uc003wie.3_Missense_Mutation_p.E698K	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA.	698					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	AAGTACTCCTCGAGGCGCTGG	0.652000														20			12		0	0	0.000219431	0	0
ADAM2	2515	broad.mit.edu	37	8	39645728	39645728	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr8:39645728C>T	uc003xnj.3	-	8	760	c.685G>A	c.(685-687)Gag>Aag	p.E229K	ADAM2_uc003xnk.3_Missense_Mutation_p.E210K|ADAM2_uc011lck.2_Missense_Mutation_p.E229K|ADAM2_uc003xnl.3_Intron	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	229	Peptidase M12B.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		ATCCAAAGCTCCAATGAAGAC	0.274000														38			9		0	0	0.000673444	0	0
LRRC4B	94030	broad.mit.edu	37	19	51022446	51022446	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:51022446G>A	uc002pss.3	-	2	661	c.524C>T	c.(523-525)tCc>tTc	p.S175F		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	Homo sapiens leucine rich repeat containing 4B (LRRC4B), mRNA.	175						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GAAGGCGTAGGAGGGGATGCT	0.657000														28			24		0	0	0.000720815	0	0
PTPRB	5787	broad.mit.edu	37	12	70933765	70933765	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:70933765G>A	uc001swb.4	-	21	5008	c.4978C>T	c.(4978-4980)Cgt>Tgt	p.R1660C	PTPRB_uc010sto.2_Missense_Mutation_p.R1570C|PTPRB_uc010stp.2_Missense_Mutation_p.R1570C|PTPRB_uc001swc.4_Missense_Mutation_p.R1878C|PTPRB_uc001swa.4_Missense_Mutation_p.R1790C	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1660					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CGATCCCTACGAATGCTCAGA	0.408000														32			17		0	0	0.00074312	0	0
XIRP1	165904	broad.mit.edu	37	3	39229317	39229317	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:39229317C>T	uc003cjk.2	-	1	1849	c.1620G>A	c.(1618-1620)caG>caA	p.Q540Q	XIRP1_uc003cji.3_Silent_p.Q540Q|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Silent_p.Q540Q	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	540	Interaction with CTNNB1 (By similarity).						actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CCACCACTTCCTGCCGGGTGA	0.612000														20			20		0	0	0.00229938	0	0
CLCN1	1180	broad.mit.edu	37	7	143013372	143013372	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:143013372C>T	uc003wcr.1	+	0	154	c.67C>T	c.(67-69)Cag>Tag	p.Q23*	CLCN1_uc011ktc.1_5'UTR	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	23					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)					CCCCCAGTACCAGTATATGCC	0.637000														31			16		0	0	0.000308642	0	0
PTH1R	5745	broad.mit.edu	37	3	46944973	46944973	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:46944973C>T	uc003cqm.3	+	15	1812	c.1609C>T	c.(1609-1611)Cat>Tat	p.H537Y	PTH1R_uc021wxg.1_Missense_Mutation_p.H537Y	NM_000316	NP_001171673	Q03431	PTH1R_HUMAN	Homo sapiens parathyroid hormone 1 receptor (PTH1R), transcript variant 1, mRNA.	537						cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						GCTGCCTGGCCATGCCAAGCC	0.677000														33			32		0	0	0.0024448	0	0
FGA	2243	broad.mit.edu	37	4	155505343	155505343	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:155505343G>A	uc003iod.1	-	5	2592	c.2534C>T	c.(2533-2535)tCc>tTc	p.S845F		NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	845	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CCCTCTAAAGGAAACCCAGAC	0.493000														46			26		0	0	0.000878237	0	0
OR2M1P	388762	broad.mit.edu	37	1	248285833	248285833	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:248285833C>T	uc001idy.1	+	0	396	c.396C>T	c.(394-396)ttC>ttT	p.F132F						Homo sapiens olfactory receptor, family 2, subfamily M, member 1 pseudogene (OR2M1P), non-coding RNA.																		AGGTTATTTTCATTTGCTCTA	0.423000														118			40		0	0	0.00128727	0	0
HCN4	10021	broad.mit.edu	37	15	73622049	73622049	+	Silent	SNP	C	G	G	rs148875639	by1000genomes	TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:73622049C>G	uc002avp.3	-	3	2449	c.1455G>C	c.(1453-1455)gcG>gcC	p.A485A		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 4 (HCN4), mRNA.	485					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		TGCCCACGGGCGCCTGCCGCC	0.617000														20			11		0	0	0.000978159	0	0
SYT10	341359	broad.mit.edu	37	12	33535372	33535372	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:33535372G>A	uc001rll.1	-	4	1579	c.1282C>T	c.(1282-1284)Cct>Tct	p.P428S	SYT10_uc009zju.1_Missense_Mutation_p.P238S	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	Homo sapiens synaptotagmin X (SYT10), mRNA.	428	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TTGTACACAGGGTTTAGAGTG	0.408000														31			25		0	0	0.000586117	0	0
IL12RB2	3595	broad.mit.edu	37	1	67838131	67838131	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:67838131C>T	uc001ddu.3	+	10	2112	c.1472C>T	c.(1471-1473)tCc>tTc	p.S491F	IL12RB2_uc010oqi.2_Missense_Mutation_p.S491F|IL12RB2_uc010oqj.2_Missense_Mutation_p.S491F|IL12RB2_uc010oqk.2_Non-coding_Transcript|IL12RB2_uc010oql.2_Intron|IL12RB2_uc010oqm.2_Missense_Mutation_p.S491F|IL12RB2_uc010oqn.2_Non-coding_Transcript	NM_001559	NP_001550	Q99665	I12R2_HUMAN	Homo sapiens interleukin 12 receptor, beta 2 (IL12RB2), mRNA.	491	Fibronectin type-III 4.				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						AACATAAAATCCTACATCTGT	0.438000														47			22		0	0	0.00106085	0	0
PIWIL1	9271	broad.mit.edu	37	12	130834508	130834508	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:130834508G>A	uc001uik.3	+	8	1311	c.1040G>A	c.(1039-1041)aGg>aAg	p.R347K	PIWIL1_uc001uij.2_Missense_Mutation_p.R347K	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	Homo sapiens piwi-like 1 (Drosophila) (PIWIL1), transcript variant 1, mRNA.	347	PAZ.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	P granule|chromatoid body	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		GAATACTACAGGAAGGTAAGA	0.403000														33			19		0	0	0.00121646	0	0
STARD13	90627	broad.mit.edu	37	13	33703805	33703805	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr13:33703805C>T	uc001uuw.3	-	4	1135	c.1009G>A	c.(1009-1011)Gag>Aag	p.E337K	STARD13_uc001uuu.3_Missense_Mutation_p.E329K|STARD13_uc001uuv.3_Missense_Mutation_p.E219K|STARD13_uc001uux.3_Missense_Mutation_p.E302K|STARD13_uc010abh.1_Missense_Mutation_p.E322K|STARD13_uc021rhz.1_Missense_Mutation_p.E329K|STARD13_uc021ria.1_Missense_Mutation_p.E219K	NM_178006	NP_443083	Q9Y3M8	STA13_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 13 (STARD13), transcript variant 1, mRNA.	337					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CTGCTGTGCTCCGACGGGCTG	0.607000														28			22		0	0	0.000586117	0	0
XIRP2	129446	broad.mit.edu	37	2	168104861	168104861	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:168104861C>T	uc002udx.3	+	8	7048	c.6959C>T	c.(6958-6960)cCt>cTt	p.P2320L	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.P2145L|XIRP2_uc010fpq.3_Missense_Mutation_p.P2098L|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2145					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATGATGTTTCCTGAAAAAAAT	0.473000														22			23		0	0	0.00229938	0	0
NTRK1	4914	broad.mit.edu	37	1	156834185	156834185	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:156834185C>T	uc001fqh.1	+	1	308	c.252C>T	c.(250-252)ctC>ctT	p.L84L	NTRK1_uc001fqf.1_Silent_p.L54L|NTRK1_uc009wsi.1_5'UTR|NTRK1_uc001fqi.1_Silent_p.L84L|NTRK1_uc009wsk.1_Silent_p.L84L	NM_002529	NP_002520	P04629	NTRK1_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 1 (NTRK1), transcript variant 2, mRNA.	84					Ras protein signal transduction|activation of MAPKK activity|activation of adenylate cyclase activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	ATCTGGAGCTCCGTGATCTGA	0.622000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)				64			18		0	0	0.00047179	0	0
FTHL17	53940	broad.mit.edu	37	X	31089887	31089887	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:31089887C>T	uc004dcl.1	-	0	284	c.184G>A	c.(184-186)Gac>Aac	p.D62N		NM_031894	NP_114100	Q9BXU8	FHL17_HUMAN	Homo sapiens ferritin, heavy polypeptide-like 17 (FTHL17), mRNA.	62	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity	p.D61E(1)		endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						TCCATTTTGTCGTCCGACAGG	0.577000														7			39		0	0	0.00148497	0	0
LINGO2	158038	broad.mit.edu	37	9	27949564	27949564	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:27949564C>T	uc003zqv.1	-	6	1756	c.1106G>A	c.(1105-1107)cGa>cAa	p.R369Q	LINGO2_uc010mjf.1_Missense_Mutation_p.R369Q|LINGO2_uc003zqu.1_Missense_Mutation_p.R369Q|LINGO2_uc022bfc.1_Missense_Mutation_p.R369Q	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 2 (LINGO2), mRNA.	369	LRRCT.					integral to membrane		p.R369Q(6)		autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GGTGGGCTGTCGCTGCAAGAT	0.547000														14			8		0	0	0.000157383	0	0
CCDC102B	79839	broad.mit.edu	37	18	66678171	66678171	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr18:66678171G>A	uc002lkk.2	+	9	1487	c.1264_splice	c.e9-1	p.E422_splice	CCDC102B_uc002lki.2_Splice_Site_p.E422_splice	NM_001093729	NP_079057	Q68D86	C102B_HUMAN	Homo sapiens coiled-coil domain containing 102B (CCDC102B), transcript variant 1, mRNA.	422										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				CCTTTGAAAGGAATTACTGAA	0.318000														10			10		0	0	0.000442599	0	0
PCLO	27445	broad.mit.edu	37	7	82764818	82764818	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:82764818G>A	uc003uhx.2	-	2	2337	c.2048C>T	c.(2047-2049)tCc>tTc	p.S683F	PCLO_uc003uhv.2_Missense_Mutation_p.S683F	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	629	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.S683F(1)|p.S629F(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTTCTTTGGGGAAGTCTGCTG	0.527000														33			23		0	0	0.000586117	0	0
ACOT8	10005	broad.mit.edu	37	20	44485898	44485898	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:44485898G>A	uc002xqa.2	-	0	151	c.57C>T	c.(55-57)ccC>ccT	p.P19P	ACOT8_uc010zxe.2_Silent_p.P19P|ACOT8_uc002xqc.2_Missense_Mutation_p.P11L|ACOT8_uc010zxf.2_Silent_p.P19P|ZSWIM3_uc010zxg.2_5'Flank|ZSWIM3_uc002xqd.3_5'Flank	NM_005469	NP_005460	O14734	ACOT8_HUMAN	Homo sapiens acyl-CoA thioesterase 8 (ACOT8), mRNA.	19					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|interspecies interaction between organisms|peroxisome organization	peroxisomal matrix	acetyl-CoA hydrolase activity|acyl-CoA thioesterase activity|carboxylesterase activity|choloyl-CoA hydrolase activity|protein binding	p.P19S(1)		kidney(2)|large_intestine(3)|lung(4)|skin(1)	10		Myeloproliferative disorder(115;0.0122)				GGTCCCCAGGGGGATCGCCGC	0.672000														18			27		0	0	0.000878237	0	0
BRDT	676	broad.mit.edu	37	1	92459696	92459696	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:92459696C>T	uc001dol.4	+	15	2590	c.2172C>T	c.(2170-2172)acC>acT	p.T724T	BRDT_uc010osz.2_Silent_p.T728T|BRDT_uc001dok.4_Silent_p.T724T|BRDT_uc009wdf.3_Silent_p.T651T|BRDT_uc010otb.2_Silent_p.T678T|BRDT_uc010ota.2_Silent_p.T678T|BRDT_uc001dom.4_Silent_p.T724T	NM_001242805	NP_001229734	Q58F21	BRDT_HUMAN	Homo sapiens bromodomain, testis-specific (BRDT), transcript variant 3, mRNA.	724					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		TTCATCAGACCACACCTTCAC	0.338000														67			33		0	0	0.000814825	0	0
ZSWIM5	57643	broad.mit.edu	37	1	45524428	45524428	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:45524428G>A	uc001cnd.2	-	3	1333	c.1105C>T	c.(1105-1107)Cga>Tga	p.R369*		NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN	Homo sapiens zinc finger, SWIM-type containing 5 (ZSWIM5), mRNA.	369							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					AGCATTTCTCGAACCTGACAC	0.483000														59			36		0	0	0.000781405	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140188815	140188815	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:140188815G>A	uc003lhi.2	+	0	2144	c.2043G>A	c.(2041-2043)cgG>cgA	p.R681R	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Silent_p.R681R|PCDHAC2_uc011daa.2_Silent_p.R681R	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	692	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCCTCACGGGCGTTGGTGG	0.637000														16			29		0	0	0.00127121	0	0
HMHA1	23526	broad.mit.edu	37	19	1068597	1068598	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:1068597_1068598GG>AA	uc002lqz.1	+	1	506_507	c.275_276GG>AA	c.(274-276)cgg>cAA	p.R92Q	HMHA1_uc010xgd.1_Missense_Mutation_p.R108Q|HMHA1_uc010xge.1_Intron|HMHA1_uc002lra.1_5'UTR|HMHA1_uc002lrb.1_5'Flank	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	Homo sapiens histocompatibility (minor) HA-1 (HMHA1), mRNA.	92					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGAGCCACCGGAGCCCACTGA	0.743000														11			9		0	0	6.4e-05	0	0
SCN1A	6323	broad.mit.edu	37	2	166905446	166905446	+	Silent	SNP	G	A	A	rs148669964		TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:166905446G>A	uc002udo.4	-	8	1205	c.978C>T	c.(976-978)ttC>ttT	p.F326F	SCN1A_uc010fpk.3_Silent_p.F326F|SCN1A_uc021vsb.1_Silent_p.F326F	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	326						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.F326F(2)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AACCCTCCAGGAAATAATGAT	0.333000														14			7		0	0	0.000442599	0	0
ADAM30	11085	broad.mit.edu	37	1	120438704	120438704	+	Silent	SNP	G	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:120438704G>T	uc001eij.3	-	0	444	c.256C>A	c.(256-258)Cga>Aga	p.R86R		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	86					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		CGCAGATGTCGGGGCAACAGA	0.532000														440			13		0.000308642	0.00140699	0.000308642	1	0
OR4N4	283694	broad.mit.edu	37	15	22382732	22382732	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:22382732C>T	uc001yuc.1	+	6	1241	c.260C>T	c.(259-261)tCt>tTt	p.S87F	abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Non-coding_Transcript|OR4N4_uc010tzv.2_Missense_Mutation_p.S87F	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA.	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S87Y(2)		breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GACTTCCTCTCTGAGAAAAAG	0.507000														108			7		0	0	0.000308642	0	0
NLRP3	114548	broad.mit.edu	37	1	247587996	247587996	+	Silent	SNP	C	T	T	rs139852370		TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:247587996C>T	uc001icr.3	+	4	1389	c.1251C>T	c.(1249-1251)atC>atT	p.I417I	NLRP3_uc001ics.3_Silent_p.I417I|NLRP3_uc001icu.3_Silent_p.I417I|NLRP3_uc001icw.3_Silent_p.I417I|NLRP3_uc001icv.3_Silent_p.I417I|NLRP3_uc010pyw.2_Silent_p.I415I|NLRP3_uc001ict.1_Silent_p.I415I	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	417	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.W416S(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TCTGCTGGATCGTGTGCACTG	0.552000														62			20		0	0	0.00188189	0	0
GRAMD1C	54762	broad.mit.edu	37	3	113652386	113652386	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:113652386G>A	uc003eaq.4	+	11	1314	c.1238G>A	c.(1237-1239)cGa>cAa	p.R413Q	GRAMD1C_uc011bil.2_Non-coding_Transcript|GRAMD1C_uc011bim.1_Non-coding_Transcript|GRAMD1C_uc003ear.3_Missense_Mutation_p.R246Q|GRAMD1C_uc003eas.3_Missense_Mutation_p.R208Q|GRAMD1C_uc003eat.3_Missense_Mutation_p.R72Q	NM_017577	NP_001165576	Q8IYS0	GRM1C_HUMAN	Homo sapiens GRAM domain containing 1C (GRAMD1C), transcript variant 1, mRNA.	413						integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						CGGGAAGCACGATTTTATTTG	0.343000														53			33		0	0	0.00128727	0	0
FGD5	152273	broad.mit.edu	37	3	14861592	14861592	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:14861592C>T	uc003bzc.3	+	0	1124	c.1014C>T	c.(1012-1014)ttC>ttT	p.F338F	FGD5_uc011avk.2_Silent_p.F338F	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	338					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TGGAGGACTTCGTGACTTCCC	0.537000														42			30		0	0	0.000491102	0	0
SLC5A2	6524	broad.mit.edu	37	16	31501777	31501777	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:31501777C>T	uc002ecf.4	+	13	1959	c.1940C>T	c.(1939-1941)cCg>cTg	p.P647L	SLC5A2_uc010car.3_Non-coding_Transcript|C16orf58_uc002ecg.3_5'Flank|C16orf58_uc002ech.2_3'UTR|C16orf58_uc002eci.2_3'UTR	NM_003041	NP_003032	P31639	SC5A2_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 2 (SLC5A2), mRNA.	647					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						AGCGAGGACCCGAGCTGGGCC	0.627000														22			12		0	0	0.000219431	0	0
CGNL1	84952	broad.mit.edu	37	15	57745996	57745996	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:57745996G>A	uc010bfw.3	+	7	2363	c.2170G>A	c.(2170-2172)Gag>Aag	p.E724K	CGNL1_uc002aeg.3_Missense_Mutation_p.E724K	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	724						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		GGAGGACAGGGAGAAGGGAGC	0.562000														28			9		0	0	0.00136819	0	0
C1orf226	400793	broad.mit.edu	37	1	162353118	162353118	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:162353118C>T	uc010pkt.1	+	2	601	c.593C>T	c.(592-594)tCa>tTa	p.S198L	C1orf226_uc001gby.2_Missense_Mutation_p.S155L	NM_001135240	NP_001128712	A1L170	CA226_HUMAN	Homo sapiens chromosome 1 open reading frame 226 (C1orf226), transcript variant 1, mRNA.	155										central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12						ACAGAGCCATCACCTGGGCAG	0.592000														10			5		0	0	0.000602214	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74507258	74507258	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:74507258C>T	uc001dfy.4	-	6	1549	c.1357G>A	c.(1357-1359)Gtt>Att	p.V453I	LRRIQ3_uc001dfz.4_Intron	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA.	453								p.R452R(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						GCTACTCTAACTCTTTCTCGA	0.313000														87			52		0	0	0.000781405	0	0
CFB	629	broad.mit.edu	37	6	31915831	31915831	+	Silent	SNP	A	G	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:31915831A>G	uc003nyj.4	+	5	1148	c.870A>G	c.(868-870)aaA>aaG	p.K290K	CFB_uc011dor.2_Silent_p.K792K|CFB_uc003nyi.2_Silent_p.K290K	NM_001710	NP_001701	P00751	CFAB_HUMAN	Homo sapiens complement factor B (CFB), mRNA.	290	VWFA.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						CAGGAGCCAAAAAGTGTCTAG	0.502000														112			73		0	0	0.000781405	0	0
PRKRA	8575	broad.mit.edu	37	2	179296897	179296897	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:179296897G>A	uc002umf.3	-	7	1070	c.869C>T	c.(868-870)tCc>tTc	p.S290F	MIR548N_uc021vsx.1_Intron|PRKRA_uc002umc.3_Missense_Mutation_p.S122F|PRKRA_uc002umd.3_Missense_Mutation_p.S265F|PRKRA_uc002ume.3_Missense_Mutation_p.S279F|PRKRA_uc002umg.3_Missense_Mutation_p.S177F|BX538254_uc002umb.1_Intron|PRKRA_uc002umh.1_Non-coding_Transcript	NM_003690	NP_001132990	O75569	PRKRA_HUMAN	Homo sapiens protein kinase, interferon-inducible double stranded RNA dependent activator (PRKRA), transcript variant 1, mRNA.	290	DRBM 3.|Sufficient for self-association and interaction with TARBP2.				immune response|negative regulation of cell proliferation|production of siRNA involved in RNA interference|response to virus	perinuclear region of cytoplasm	double-stranded RNA binding|enzyme activator activity|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			ATTGCCACAGGAGATACCGGA	0.418000														61			31		0	0	0.00058488	0	0
IL19	29949	broad.mit.edu	37	1	207013243	207013243	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:207013243G>A	uc001hep.3	+	4	1198	c.259G>A	c.(259-261)Gac>Aac	p.D87N	IL19_uc001heo.3_Missense_Mutation_p.D125N|IL19_uc010prx.1_Missense_Mutation_p.D87N	NM_013371	NP_037503	Q9UHD0	IL19_HUMAN	Homo sapiens interleukin 19 (IL19), transcript variant 2, mRNA.	87					apoptosis|immune response|signal transduction	extracellular space	cytokine activity			central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7			BRCA - Breast invasive adenocarcinoma(75;0.211)			GTTCTACGTGGACAGGGTGTT	0.473000														117			184		0	0	0.000781405	0	0
PSME4	23198	broad.mit.edu	37	2	54153116	54153116	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:54153116G>A	uc002rxp.2	-	12	1694	c.1638C>T	c.(1636-1638)ttC>ttT	p.F546F	PSME4_uc010yop.1_Silent_p.F432F|PSME4_uc010yoq.1_Non-coding_Transcript|PSME4_uc010fbu.1_5'UTR|PSME4_uc010fbv.1_Intron|PSME4_uc021vho.1_Silent_p.F531F	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	546					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			ACTGTAAGACGAAATCCTCAA	0.363000														39			16		0	0	0.00229938	0	0
ITGAD	3681	broad.mit.edu	37	16	31422778	31422778	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr16:31422778G>A	uc010cap.1	+	13	1699	c.1650G>A	c.(1648-1650)cgG>cgA	p.R550R	ITGAD_uc002ebv.1_Silent_p.R549R	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	549					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						AGGAGAACCGGGGTGCTGTCT	0.622000														89			43		0	0	0.000781405	0	0
CEACAM20	125931	broad.mit.edu	37	19	45026929	45026929	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:45026929G>A	uc010ejn.1	-	3	501	c.485C>T	c.(484-486)cCt>cTt	p.P162L	CEACAM20_uc010ejo.1_Missense_Mutation_p.P162L|CEACAM20_uc010ejp.1_Missense_Mutation_p.P162L|CEACAM20_uc010ejq.1_Missense_Mutation_p.P162L	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA.	162	Ig-like C2-type 2.					integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				GATTTCAACAGGATCAGGACC	0.463000														137			96		0	0	0.000781405	0	0
DSG4	147409	broad.mit.edu	37	18	28968850	28968850	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr18:28968850C>T	uc002kwr.2	+	4	521	c.386C>T	c.(385-387)gCt>gTt	p.A129V	DSG4_uc002kwq.2_Missense_Mutation_p.A129V	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	129	Cadherin 1.		Missing (in LAH1).		homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.R128L(2)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TATTGCCGGGCTCTGAATTCA	0.373000														46			38		0	0	0.00148497	0	0
FCHSD1	89848	broad.mit.edu	37	5	141028539	141028539	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:141028539C>T	uc003llk.3	-	6	612	c.561G>A	c.(559-561)caG>caA	p.Q187Q	FCHSD1_uc010jgg.3_5'Flank|FCHSD1_uc003llj.3_Non-coding_Transcript	NM_033449	NP_258260	Q86WN1	FCSD1_HUMAN	Homo sapiens FCH and double SH3 domains 1 (FCHSD1), mRNA.	187									FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTCAGTTTCTGGAGACTGG	0.532000														60			48		0	0	0.000781405	0	0
GOLGA5	9950	broad.mit.edu	37	14	93290921	93290921	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:93290921C>T	uc001yaz.1	+	8	1833	c.1651C>T	c.(1651-1653)Cga>Tga	p.R551*		NM_005113	NP_005104	Q8TBA6	GOGA5_HUMAN	Homo sapiens golgin A5 (GOLGA5), mRNA.	551					Golgi organization	cis-Golgi network|integral to membrane	ATP binding|Rab GTPase binding|protein homodimerization activity|protein tyrosine kinase activity	p.R551Q(1)		large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		AGATCTTTATCGAACAAAGAA	0.368000			T	RET	papillary thyroid									47			32		0	0	0.00148497	0	0
SUPT6H	6830	broad.mit.edu	37	17	27008341	27008341	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:27008341C>T	uc010crt.3	+	12	1609	c.1417C>T	c.(1417-1419)Cga>Tga	p.R473*	SUPT6H_uc002hby.3_Nonsense_Mutation_p.R473*	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA.	473					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)					TTATTATGGCCGAGACATCCC	0.448000														41			44		0	0	0.000509022	0	0
SPERT	220082	broad.mit.edu	37	13	46276538	46276538	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr13:46276538G>A	uc001van.1	+	0	93	c.13G>A	c.(13-15)Gaa>Aaa	p.E5K	SPERT_uc001vao.2_5'Flank	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	Homo sapiens spermatid associated (SPERT), mRNA.	5						cytoplasmic membrane-bounded vesicle				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		GTCACCTCTGGAATGTTCTGA	0.433000														100			58		0	0	0.000781405	0	0
PTPRU	10076	broad.mit.edu	37	1	29618476	29618476	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:29618476C>T	uc001bru.3	+	15	2573	c.2444C>T	c.(2443-2445)aCc>aTc	p.T815I	PTPRU_uc009vtq.3_Missense_Mutation_p.T805I|PTPRU_uc009vtr.3_Missense_Mutation_p.T805I|PTPRU_uc001brw.3_Missense_Mutation_p.T805I	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA.	815	Mediates interaction with CTNNB1 (By similarity).				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GACCAGAGCACCCTGCAGGAG	0.627000														27			12		0	0	0.00185496	0	0
COL14A1	7373	broad.mit.edu	37	8	121295969	121295969	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr8:121295969G>A	uc003yox.3	+	31	4184	c.3919G>A	c.(3919-3921)Gag>Aag	p.E1307K	COL14A1_uc003yoz.3_Missense_Mutation_p.E272K	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	1307	Nonhelical region (NC4).|TSP N-terminal.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TGCTCTTTGGGAGATTTTAAA	0.383000														35			35		0	0	0.00058488	0	0
PLCE1	51196	broad.mit.edu	37	10	95791423	95791424	+	Missense_Mutation	DNP	AC	GT	GT			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr10:95791423_95791424AC>GT	uc001kjk.3	+	1	1254_1255	c.620_621AC>GT	c.(619-621)aac>aGT	p.N207S	PLCE1_uc010qnx.2_Missense_Mutation_p.N207S	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	207					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)				CTATCAGAAAACTTAATTTTAG	0.411000														18			13		0	0	6.4e-05	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36123592	36123592	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:36123592G>A	uc001wtj.3	-	28	4461	c.4070C>T	c.(4069-4071)tCt>tTt	p.S1357F	RALGAPA1_uc010amp.3_Non-coding_Transcript|RALGAPA1_uc001wti.3_Missense_Mutation_p.S1357F|RALGAPA1_uc010tpv.2_Missense_Mutation_p.S1370F|RALGAPA1_uc010tpw.1_Missense_Mutation_p.S1404F	NM_194301	NP_919277	Q6GYQ0	RGPA1_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 1 (catalytic) (RALGAPA1), transcript variant 2, mRNA.	1357	Minimal domain that binds to TCF3/E12 (By similarity).				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	Ral GTPase activator activity|protein heterodimerization activity	p.D1356A(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TTTCAAGGGAGAATCAGGCTG	0.289000														19			24		0	0	0.000586117	0	0
SMARCA2	6595	broad.mit.edu	37	9	2039544	2039544	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:2039544C>A	uc003zhc.3	+	3	533	c.434C>A	c.(433-435)cCa>cAa	p.P145Q	SMARCA2_uc003zhd.3_Missense_Mutation_p.P145Q|SMARCA2_uc010mha.3_Missense_Mutation_p.P136Q	NM_003070	NP_003061	P51531	SMCA2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 (SMARCA2), transcript variant 1, mRNA.	145					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	SWI/SNF complex|WINAC complex|intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm	ATP binding|DNA-dependent ATPase activity|RNA polymerase II transcription coactivator activity|helicase activity|protein binding|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		GGCCCAACTCCACCTCAGATG	0.567000														54			28		2.4375e-19	1.12648e-18	0.00127121	1	0
ZC3H3	23144	broad.mit.edu	37	8	144550575	144550575	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr8:144550575G>A	uc003yyd.2	-	6	2111	c.2082C>T	c.(2080-2082)ccC>ccT	p.P694P		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	Homo sapiens zinc finger CCCH-type containing 3 (ZC3H3), mRNA.	694					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CCACCTTCTCGGGATCGTGGA	0.672000														5			6		0	0	0.00116845	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156643314	156643314	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:156643314G>A	uc003iov.3	+	9	2377	c.1841G>A	c.(1840-1842)cGa>cAa	p.R614Q	GUCY1A3_uc010iqc.2_Missense_Mutation_p.R614Q|GUCY1A3_uc010iqd.3_Missense_Mutation_p.R613Q|GUCY1A3_uc003iow.3_Missense_Mutation_p.R614Q|GUCY1A3_uc003iox.3_Missense_Mutation_p.R614Q|GUCY1A3_uc010iqe.3_Missense_Mutation_p.R379Q|GUCY1A3_uc003ioy.3_Missense_Mutation_p.R614Q|GUCY1A3_uc003ioz.3_Missense_Mutation_p.R379Q|GUCY1A3_uc003ipa.3_Non-coding_Transcript|GUCY1A3_uc003ipb.3_Missense_Mutation_p.R614Q	NM_000856	NP_001124157	Q02108	GCYA3_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA.	614					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		AGTGTACCACGAAAAATCAAT	0.378000														26			11		0	0	0.000978159	0	0
OR2Z1	284383	broad.mit.edu	37	19	8841889	8841889	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:8841889C>T	uc010xkg.2	+	0	499	c.499C>T	c.(499-501)Ccc>Tcc	p.P167S		NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Z, member 1 (OR2Z1), mRNA.	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P167L(1)		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						CCTGCATTTTCCCTACTGTGC	0.552000														24			77		0	0	0.000781405	0	0
SSH1	54434	broad.mit.edu	37	12	109186549	109186549	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:109186549G>A	uc001tnm.3	-	13	1493	c.1406C>T	c.(1405-1407)cCt>cTt	p.P469L	SSH1_uc001tnl.3_Missense_Mutation_p.P157L|SSH1_uc010sxg.2_Missense_Mutation_p.P480L|SSH1_uc001tnn.4_Missense_Mutation_p.P469L	NM_018984	NP_061857	Q8WYL5	SSH1_HUMAN	Homo sapiens slingshot homolog 1 (Drosophila) (SSH1), transcript variant 1, mRNA.	469					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.?(2)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GTCATCCACAGGCTGCTGGAG	0.637000														21			15		0	0	0.000422831	0	0
THOC2	57187	broad.mit.edu	37	X	122753266	122753266	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:122753266C>T	uc004etu.3	-	32	4329	c.4297G>A	c.(4297-4299)Gaa>Aaa	p.E1433K	THOC2_uc010nqt.1_Non-coding_Transcript|THOC2_uc004etw.1_Missense_Mutation_p.E254K	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	Homo sapiens THO complex 2 (THOC2), mRNA.	1433	Lys-rich.				RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing	THO complex part of transcription export complex	RNA binding|protein binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						GCTGAAGATTCCTTGAGTTCG	0.388000														5			16		0	0	0.00152264	0	0
ACTR2	10097	broad.mit.edu	37	2	65488384	65488384	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:65488384C>T	uc002sdp.3	+	7	969	c.754C>T	c.(754-756)Cca>Tca	p.P252S	ACTR2_uc010yqf.1_Missense_Mutation_p.P192S|ACTR2_uc002sdq.3_Missense_Mutation_p.P247S|ACTR2_uc010yqg.2_Missense_Mutation_p.P195S	NM_001005386	NP_001005386	P61160	ARP2_HUMAN	Homo sapiens ARP2 actin-related protein 2 homolog (yeast) (ACTR2), transcript variant 1, mRNA.	247					cellular component movement	Arp2/3 protein complex|cell projection|cytoplasm	ATP binding|actin binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	12						TTTCTAGCTCCCAGATGGACG	0.393000														22			15		0	0	0.00074312	0	0
PNPLA7	375775	broad.mit.edu	37	9	140409837	140409837	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:140409837G>A	uc010ncj.1	-	11	1556	c.1219C>T	c.(1219-1221)Cca>Tca	p.P407S	PNPLA7_uc011mfa.1_Missense_Mutation_p.P114S|PNPLA7_uc004cnf.2_Missense_Mutation_p.P382S	NM_001098537	NP_001092007	Q6ZV29	PLPL7_HUMAN	Homo sapiens patatin-like phospholipase domain containing 7 (PNPLA7), transcript variant 1, mRNA.	382				FLHSDEHPGSSVASKSRKSVMVAEIPSTVSQHSESHTDETL ASRKSDAIFRAAKKDLLTLMKLEDSSLLDG -> LCLLPQC LGGLPPTDTSVYSSASSDCCGCSMPVLCIMGHKPHVTVDT (in Ref. 1; BAC86509).	lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	p.D407N(1)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TTACCTTGTGGGGCCGAAGGG	0.647000														7			5		0	0	0.000602214	0	0
MACF1	23499	broad.mit.edu	37	1	39934333	39934333	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:39934333C>T	uc021olw.1	+	60	17147	c.17147C>T	c.(17146-17148)aCc>aTc	p.T5716I	MACF1_uc021ols.1_Missense_Mutation_p.T5205I|MACF1_uc021olt.1_Missense_Mutation_p.T5208I|MACF1_uc001cde.2_Missense_Mutation_p.T85I|MACF1_uc001cdg.3_5'UTR|MACF1_uc001cdh.3_5'UTR	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	7166					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding	p.T5716T(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTGCGCAGCACCGTGATGGTT	0.433000														36			21		0	0	0.00188189	0	0
OR6C76	390326	broad.mit.edu	37	12	55820217	55820217	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:55820217C>T	uc010spm.2	+	0	180	c.180C>T	c.(178-180)ttC>ttT	p.F60F		NM_001005183	NP_001005183	A6NM76	O6C76_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 76 (OR6C76), mRNA.	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TGTATTTCTTCCTCAGGAATT	0.393000														53			27		0	0	0.00127121	0	0
PUM1	9698	broad.mit.edu	37	1	31425183	31425184	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:31425183_31425184GG>AA	uc001bsi.1	-	15	2731_2732	c.2618_2619CC>TT	c.(2617-2619)gcc>gTT	p.A873V	PUM1_uc001bsf.1_Missense_Mutation_p.A539V|PUM1_uc001bsh.1_Missense_Mutation_p.A873V|PUM1_uc001bsj.1_Missense_Mutation_p.A847V|PUM1_uc010oga.1_Missense_Mutation_p.A729V|PUM1_uc001bsk.1_Missense_Mutation_p.A909V|PUM1_uc010ogb.1_Missense_Mutation_p.A814V	NM_014676	NP_055491	Q14671	PUM1_HUMAN	Homo sapiens pumilio homolog 1 (Drosophila) (PUM1), transcript variant 2, mRNA.	873	PUM-HD.				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		CAGCTGGTGTGGCACGCTCCAG	0.460000														31			17		0	0	6.4e-05	0	0
DUOXA1	90527	broad.mit.edu	37	15	45412962	45412962	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:45412962C>T	uc001zup.3	-	6	782	c.382G>A	c.(382-384)Gag>Aag	p.E128K	DUOXA1_uc010uem.2_Missense_Mutation_p.E83K|DUOXA1_uc010bec.3_Missense_Mutation_p.E128K|DUOXA1_uc001zuq.1_Missense_Mutation_p.E128K|DUOXA1_uc001zur.1_Missense_Mutation_p.E83K|DUOXA1_uc010bed.1_Missense_Mutation_p.E83K	NM_144565	NP_653166	Q1HG43	DOXA1_HUMAN	Homo sapiens dual oxidase maturation factor 1 (DUOXA1), mRNA.	128					protein transport	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686)		GTGAACTCCTCGTTGTAATTG	0.572000														89			57		0	0	0.000781405	0	0
OTOL1	131149	broad.mit.edu	37	3	161214704	161214704	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:161214704G>A	uc011bpb.2	+	0	109	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K		NM_001080440	NP_001073909	A6NHN0	OTOL1_HUMAN	Homo sapiens otolin 1 (OTOL1), mRNA.	37						collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						GAAATCTGAGGAAAGAGAGAT	0.413000														18			6		0	0	0.00116845	0	0
FAM47B	170062	broad.mit.edu	37	X	34961468	34961468	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:34961468G>A	uc004ddi.2	+	0	556	c.520G>A	c.(520-522)Gag>Aag	p.E174K		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA.	174										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						GAAGACAACCGAGGTACCCAC	0.607000														3			15		0	0	0.000219431	0	0
CWH43	80157	broad.mit.edu	37	4	49032922	49032922	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:49032922G>A	uc003gyv.3	+	10	1635	c.1453G>A	c.(1453-1455)Gaa>Aaa	p.E485K	CWH43_uc011bzl.2_Missense_Mutation_p.E458K	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA.	485					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						GTGGCTAGGGGAAAAGTTGGG	0.418000														67			41		0	0	0.000589545	0	0
LRRC16B	90668	broad.mit.edu	37	14	24538049	24538049	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr14:24538049G>A	uc001wlj.2	+	37	4013	c.3856G>A	c.(3856-3858)Ggc>Agc	p.G1286S	LRRC16B_uc001wlk.2_Missense_Mutation_p.G339S|CPNE6_uc010tnv.2_5'Flank|CPNE6_uc001wlm.3_5'Flank|CPNE6_uc001wll.3_5'Flank	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	Homo sapiens leucine rich repeat containing 16B (LRRC16B), mRNA.	1286										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		TGTGCCCAGGGGCCGCCAGCC	0.642000														13			16		0	0	0.00152264	0	0
CASR	846	broad.mit.edu	37	3	122003521	122003521	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:122003521G>A	uc003eew.4	+	6	3188	c.2750G>A	c.(2749-2751)gGa>gAa	p.G917E	CASR_uc003eev.4_Missense_Mutation_p.G907E	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	907					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)	GGCTCCACGGGATCCACCCCC	0.667000														14			9		0	0	0.000442599	0	0
RAG1	5896	broad.mit.edu	37	11	36595095	36595095	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:36595095T>G	uc021qgb.1	+	0	241	c.241T>G	c.(241-243)Tta>Gta	p.L81V	RAG1_uc001mwt.3_Non-coding_Transcript|RAG1_uc001mwu.4_Missense_Mutation_p.L81V	NM_000448	NP_000439	P15918	RAG1_HUMAN	Homo sapiens recombination activating gene 1 (RAG1), mRNA.	81	Interaction with importin alpha-1.				T cell differentiation in thymus|V(D)J recombination|histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				TCAGCCATTGTTAAAAGCCCA	0.493000									Familial Hemophagocytic Lymphohistiocytosis					65			46		0	0	0.000781405	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151152181	151152182	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:151152181_151152182CC>TT	uc011eem.1	+	14	2199_2200	c.2111_2112CC>TT	c.(2110-2112)ccc>cTT	p.P704L	PLEKHG1_uc011eel.1_Missense_Mutation_p.P685L|PLEKHG1_uc003qny.1_Missense_Mutation_p.P645L|PLEKHG1_uc003qnz.2_Missense_Mutation_p.P645L	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 1 (PLEKHG1), mRNA.	645					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.P645P(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GAGATGACTCCCTTTGGGTCAT	0.460000														2			6		0	0	6.4e-05	0	0
AMBRA1	55626	broad.mit.edu	37	11	46534347	46534347	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:46534347A>G	uc001ncv.2	-	9	2412	c.2098T>C	c.(2098-2100)Tcc>Ccc	p.S700P	AMBRA1_uc010rgt.1_Missense_Mutation_p.S263P|AMBRA1_uc009ylc.1_Intron|AMBRA1_uc001ncu.1_Missense_Mutation_p.S607P|AMBRA1_uc010rgu.1_Missense_Mutation_p.S697P|AMBRA1_uc001ncw.2_Intron|AMBRA1_uc001ncx.2_Missense_Mutation_p.S697P	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	Homo sapiens autophagy/beclin-1 regulator 1 (AMBRA1), mRNA.	697					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GAAATGAGGGAAGATTCCAGC	0.443000														60			40		0	0	0.000781405	0	0
DLX3	1747	broad.mit.edu	37	17	48069074	48069074	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:48069074G>A	uc002ipy.3	-	2	897	c.671C>T	c.(670-672)cCg>cTg	p.P224L		NM_005220	NP_005211	O60479	DLX3_HUMAN	Homo sapiens distal-less homeobox 3 (DLX3), mRNA.	224						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						GGCAGGGGCCGGAGTGGAGTG	0.647000														33			13		0	0	0.00185496	0	0
ENPP3	5169	broad.mit.edu	37	6	131973708	131973708	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:131973708C>T	uc003qcu.4	+	4	651	c.304C>T	c.(304-306)Cgt>Tgt	p.R102C	ENPP3_uc010kfn.1_Non-coding_Transcript|ENPP3_uc011ecc.1_Missense_Mutation_p.R68C|ENPP3_uc010kfo.1_Non-coding_Transcript|ENPP3_uc010kfp.1_Non-coding_Transcript|ENPP3_uc003qcv.3_Missense_Mutation_p.R102C|ENPP3_uc010kfq.3_Non-coding_Transcript	NM_005021	NP_005012	O14638	ENPP3_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 3 (ENPP3), mRNA.	102	SMB 2.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity	p.R102C(2)		NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		CAATAAATTTCGTTGTGGAGA	0.378000														20			30		0	0	0.000692331	0	0
RYR2	6262	broad.mit.edu	37	1	237982410	237982410	+	Silent	SNP	A	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:237982410A>T	uc001hyl.1	+	100	14628	c.14508A>T	c.(14506-14508)ggA>ggT	p.G4836G	RYR2_uc010pyb.1_Silent_p.G269G	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	4836					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACCCAGCAGGAGATGAATATG	0.413000														95			41		0	0	0.00148497	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79064056	79064056	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:79064056G>A	uc002bej.4	-	14	2458	c.2247C>T	c.(2245-2247)ctC>ctT	p.L749L	ADAMTS7_uc010und.1_Intron|ADAMTS7_uc002bek.1_Silent_p.L749L	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	749	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						AGCCACCATTGAGGAAGTACT	0.642000														26			14		0	0	0.000308642	0	0
ANO4	121601	broad.mit.edu	37	12	101437354	101437354	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:101437354C>T	uc010svm.1	+	12	1764	c.1192C>T	c.(1192-1194)Cct>Tct	p.P398S	ANO4_uc001thw.2_Missense_Mutation_p.P363S|ANO4_uc001thx.2_Missense_Mutation_p.P398S	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	398						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CATCATGTGTCCTGTGTGTGA	0.368000										HNSCC(74;0.22)				37			26		0	0	0.00178596	0	0
ANKAR	150709	broad.mit.edu	37	2	190584441	190584441	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:190584441A>C	uc002uqw.2	+	10	2456	c.2368A>C	c.(2368-2370)Aac>Cac	p.N790H	ANKAR_uc002uqu.3_Non-coding_Transcript|ANKAR_uc002uqx.2_Non-coding_Transcript	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	Homo sapiens ankyrin and armadillo repeat containing (ANKAR), mRNA.	790						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)			ATCTCTAATCAACCTACTGGT	0.408000														37			24		0	0	0.000878237	0	0
GALNT2	2590	broad.mit.edu	37	1	230338945	230338946	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:230338945_230338946GG>AA	uc010pwa.1	+	2	355_356	c.283_284GG>AA	c.(283-285)ggg>AAg	p.G95K	GALNT2_uc010pvy.1_Missense_Mutation_p.G57K|GALNT2_uc010pvz.1_Non-coding_Transcript	NM_004481	NP_004472	Q10471	GALT2_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2) (GALNT2), mRNA.	95					immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|extracellular region|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				GGTCCGCTCCGGGCAGGACCCT	0.545000														108			36		0	0	6.4e-05	0	0
GNAS	2778	broad.mit.edu	37	20	57430064	57430064	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr20:57430064G>A	uc002xzw.3	+	0	2029	c.1744G>A	c.(1744-1746)Gac>Aac	p.D582N	GNAS_uc021wfl.1_Intron|GNAS_uc002xzt.3_Intron|GNAS_uc010gjq.3_Intron|GNAS_uc002xzv.3_Non-coding_Transcript	NM_080425	NP_001070958	P63092	GNAS2_HUMAN	Homo sapiens GNAS complex locus (GNAS), transcript variant 2, mRNA.	0					G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			AGACGAGTCCGACGATGGGAC	0.657000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)				32			10		0	0	0.000442599	0	0
PPEF2	5470	broad.mit.edu	37	4	76793176	76793176	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr4:76793176G>A	uc003hix.3	-	13	2006	c.1649_splice	c.e13+1	p.R550_splice	PPEF2_uc003hiy.3_Splice_Site|PPEF2_uc003hiz.1_Splice_Site_p.R550_splice	NM_006239	NP_006230	O14830	PPE2_HUMAN	Homo sapiens protein phosphatase, EF-hand calcium binding domain 2 (PPEF2), mRNA.	550					detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	Hsp70 protein binding|Hsp90 protein binding|calcium ion binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GAAAAGTCTTGCCTTTGCCTC	0.403000														57			19		0	0	0.00229938	0	0
C2orf16	84226	broad.mit.edu	37	2	27803256	27803256	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:27803256G>A	uc002rkz.4	+	0	3868	c.3817G>A	c.(3817-3819)Gaa>Aaa	p.E1273K	ZNF512_uc010ylw.2_5'Flank|ZNF512_uc002rlb.3_5'Flank|ZNF512_uc010ylx.2_5'Flank|ZNF512_uc002rlc.3_5'Flank|ZNF512_uc002rla.3_5'Flank|ZNF512_uc010ylv.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.2_5'Flank	NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	1273										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CACTCAGAATGAAAAACGGGC	0.398000														79			37		0	0	0.00170553	0	0
ATP12A	479	broad.mit.edu	37	13	25262538	25262538	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr13:25262538A>T	uc010aaa.3	+	3	643	c.310A>T	c.(310-312)Atc>Ttc	p.I104F	ATP12A_uc001upp.3_Missense_Mutation_p.I104F	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	104					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	GACGCCTGAGATCGTCAAGTT	0.592000														149			105		0	0	0.000781405	0	0
TAF6	6878	broad.mit.edu	37	7	99707825	99707825	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:99707825C>T	uc003uth.3	-	9	1464	c.1327G>A	c.(1327-1329)Gat>Aat	p.D443N	AP4M1_uc003utd.3_3'UTR|TAF6_uc003utg.3_Missense_Mutation_p.D308N|TAF6_uc003utm.3_Missense_Mutation_p.D386N|TAF6_uc003uti.3_Missense_Mutation_p.D386N|TAF6_uc003utk.3_Missense_Mutation_p.D386N|TAF6_uc011kji.2_Missense_Mutation_p.D423N	NM_139315	NP_647476	P49848	TAF6_HUMAN	Homo sapiens TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa (TAF6), transcript variant 2, mRNA.	386					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	MLL1 complex|cytoplasm|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGCCTAACATCGTGTCCCAGC	0.572000														158			77		0	0	0.000781405	0	0
SERPINB2	5055	broad.mit.edu	37	18	61570430	61570430	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr18:61570430G>A	uc010xeu.2	+	8	1472	c.1139G>A	c.(1138-1140)aGa>aAa	p.R380K	SERPINB2_uc002ljo.3_Missense_Mutation_p.R380K|SERPINB2_uc002ljp.1_Intron|SERPINB2_uc002ljq.1_Intron	NM_001143818	NP_002566	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 2 (SERPINB2), transcript variant 1, mRNA.	380		Reactive bond.			anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	Golgi apparatus|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	ATGACAGGGAGAACTGGACAT	0.453000														29			19		0	0	0.00121646	0	0
MACC1	346389	broad.mit.edu	37	7	20199263	20199263	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:20199263C>G	uc003sus.4	-	4	1030	c.721G>C	c.(721-723)Gtg>Ctg	p.V241L	MACC1_uc010kug.3_Missense_Mutation_p.V241L	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	Homo sapiens metastasis associated in colon cancer 1 (MACC1), mRNA.	241					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						CCCACAGCCACATGACCTTGG	0.488000														40			14		0	0	0.000422831	0	0
CLIP1	6249	broad.mit.edu	37	12	122825945	122825945	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr12:122825945G>A	uc001ucg.2	-	10	1961	c.1806C>T	c.(1804-1806)aaC>aaT	p.N602N	CLIP1_uc001uch.1_Silent_p.N591N|CLIP1_uc001uci.1_Silent_p.N556N|CLIP1_uc001ucj.1_Silent_p.N292N|CLIP1_uc009zxo.1_Silent_p.N158N	NM_001247997	NP_001234926	P30622	CLIP1_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 1 (CLIP1), transcript variant 3, mRNA.	602					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TCAATGACTCGTTCTCTTTGG	0.468000														93			53		0	0	0.000781405	0	0
OR4N3P	390539	broad.mit.edu	37	15	22413721	22413721	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr15:22413721C>T	uc001yuf.3	+	0	260	c.20C>T	c.(19-21)tCt>tTt	p.S7F	abParts_uc001yuj.2_Intron					Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA.																		GACTTCCTCTCTGAGAAGAAG	0.507000														137			21		0	0	0.00106085	0	0
TECR	9524	broad.mit.edu	37	19	14676599	14676599	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:14676599G>A	uc002mza.3	+	12	973	c.843G>A	c.(841-843)tgG>tgA	p.W281*	TECR_uc010xns.2_Nonsense_Mutation_p.W126*|TECR_uc002mzc.3_Nonsense_Mutation_p.W126*|TECR_uc002mzb.3_Nonsense_Mutation_p.W296*|TECR_uc002mze.3_Nonsense_Mutation_p.W107*	NM_138501	NP_612510	Q9NZ01	TECR_HUMAN	Homo sapiens trans-2,3-enoyl-CoA reductase (TECR), transcript variant 1, mRNA.	281					fatty acid elongation|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	trans-2-enoyl-CoA reductase (NADPH) activity|very long-chain-acyl-CoA dehydrogenase activity			endometrium(1)|large_intestine(1)|ovary(1)	3						TGACCATCTGGGCCAAGGGCA	0.682000														3			4		0	0	0.00116845	0	0
JUP	3728	broad.mit.edu	37	17	39913718	39913718	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr17:39913718G>A	uc002hxq.2	-	11	2272	c.1995C>T	c.(1993-1995)tcC>tcT	p.S665S	JUP_uc010wfs.2_Intron|JUP_uc002hxr.2_Silent_p.S665S|JUP_uc002hxs.2_Silent_p.S665S	NM_021991	NP_068831	P14923	PLAK_HUMAN	Homo sapiens junction plakoglobin (JUP), transcript variant 2, mRNA.	665					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of Wnt receptor signaling pathway involved in heart development|negative regulation of heart induction by canonical Wnt receptor signaling pathway|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	Axin-APC-beta-catenin-GSK3B complex|Z disc|actin cytoskeleton|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|zonula adherens	RPTP-like protein binding|alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		TGAGCTCCACGGACACGCGCT	0.582000														72			29		0	0	0.0024448	0	0
FSHR	2492	broad.mit.edu	37	2	49295372	49295372	+	Silent	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:49295372C>T	uc002rww.3	-	1	320	c.210G>A	c.(208-210)ggG>ggA	p.G70G	FSHR_uc010fbn.3_Silent_p.G70G|FSHR_uc002rwx.3_Silent_p.G70G|FSHR_uc010fbo.2_Non-coding_Transcript	NM_000145	NP_000136	P23945	FSHR_HUMAN	Homo sapiens follicle stimulating hormone receptor (FSHR), transcript variant 1, mRNA.	70					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TCTCCAGGTCCCCAAATCCTG	0.443000									Gonadal Dysgenesis, 46 XX					29			15		0	0	0.000566183	0	0
KIAA1383	54627	broad.mit.edu	37	1	232941695	232941695	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:232941695G>A	uc001hvh.2	+	0	1058	c.926G>A	c.(925-927)cGa>cAa	p.R309Q		NM_019090	NP_061963	Q9P2G4	K1383_HUMAN	Homo sapiens KIAA1383 (KIAA1383), mRNA.	167										breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)	20		all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169)				CTGCATAATCGAGTGGGCGAG	0.687000														21			5		0	0	0.00198382	0	0
PRDM9	56979	broad.mit.edu	37	5	23518019	23518019	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:23518019G>A	uc003jgo.3	+	4	513	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	111					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CTTAAGAGTGGAACAGCGTAA	0.408000										HNSCC(3;0.000094)				73			57		0	0	0.000781405	0	0
POF1B	79983	broad.mit.edu	37	X	84560875	84560875	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chrX:84560875C>T	uc004eer.2	-	12	1505	c.1359G>A	c.(1357-1359)atG>atA	p.M453I	POF1B_uc004ees.3_Missense_Mutation_p.M453I	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	Homo sapiens premature ovarian failure, 1B (POF1B), mRNA.	453							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						CAATCTCATCCATTTTAGCCT	0.393000														2			13		0	0	0.00185496	0	0
RCAN2	10231	broad.mit.edu	37	6	46216547	46216547	+	Silent	SNP	G	A	A			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr6:46216547G>A	uc003oyc.2	-	2	465	c.312C>T	c.(310-312)ttC>ttT	p.F104F	RCAN2_uc003oyb.2_Silent_p.F58F|RCAN2_uc003oyd.2_Silent_p.F104F	NM_001251974	NP_001238903	Q14206	RCAN2_HUMAN	Homo sapiens regulator of calcineurin 2 (RCAN2), transcript variant 2, mRNA.	58					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						TAGGATTGCTGAAGTTTATAC	0.393000														25			10		0	0	0.000442599	0	0
C9	735	broad.mit.edu	37	5	39315879	39315879	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:39315879T>G	uc003jlv.4	-	5	957	c.868A>C	c.(868-870)Aag>Cag	p.K290Q		NM_001737	NP_001728	P02748	CO9_HUMAN	Homo sapiens complement component 9 (C9), mRNA.	290	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TGTCTTACCTTCTTTGAAGAA	0.313000														12			6		0	0	0.00116845	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140188067	140188067	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr5:140188067C>T	uc003lhi.2	+	0	1396	c.1295C>T	c.(1294-1296)tCg>tTg	p.S432L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Missense_Mutation_p.S432L|PCDHAC2_uc011daa.2_Missense_Mutation_p.S432L	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	446	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.S432L(2)		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)			GACGGGGGCTCGCCTTCGCTG	0.617000														66			37		0	0	0.00128727	0	0
THAP3	90326	broad.mit.edu	37	1	6693007	6693008	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr1:6693007_6693008delAG	uc001aoc.3	+	5	749_750	c.590_591delAG	c.(589-591)aagfs	p.K197fs	THAP3_uc001aod.3_Frame_Shift_Del_p.K196fs|THAP3_uc001aoe.2_Intron	NM_001195753	NP_001182682	Q8WTV1	THAP3_HUMAN	Homo sapiens THAP domain containing, apoptosis associated protein 3 (THAP3), transcript variant 3, mRNA.	197							DNA binding|metal ion binding			breast(1)|cervix(1)|large_intestine(1)|prostate(1)	4	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		CTCACTCTGAAGGAAAATGAAA	0.554													---	32	---	---	16	---					
MYT1L	23040	broad.mit.edu	37	2	1947053	1947053	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:1947053delT	uc002qxe.3	-	8	1033	c.206delA	c.(205-207)cagfs	p.Q69fs	MYT1L_uc002qxd.3_Frame_Shift_Del_p.Q69fs	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	69					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		AGCAGGTTCCTGGGGCTGTTT	0.433													---	4	---	---	2	---					
ARHGAP15	55843	broad.mit.edu	37	2	144461039	144461040	+	Frame_Shift_Ins	INS	-	ACTC	ACTC			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr2:144461039_144461040insACTC	uc002tvm.4	+	12	1341_1342	c.1190_1191insACTC	c.(1189-1191)aaafs	p.K397fs	ARHGAP15_uc002tvn.3_Frame_Shift_Ins_p.K163fs	NM_018460	NP_060930	Q53QZ3	RHG15_HUMAN	Homo sapiens Rho GTPase activating protein 15 (ARHGAP15), mRNA.	397	Rho-GAP.				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	Rac GTPase activator activity|protein binding			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		CTTGTACAAAAACTCCCTCCGC	0.342													---	20	---	---	10	---					
MITF	4286	broad.mit.edu	37	3	69986995	69986997	+	In_Frame_Del	DEL	CCA	-	-			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr3:69986995_69986997delCCA	uc003dnz.3	+	2	540_542	c.377_379delCCA	c.(376-381)cccacc>ccc	p.T127del	MITF_uc011bgb.2_In_Frame_Del_p.T75del|MITF_uc003doa.3_In_Frame_Del_p.T126del|MITF_uc003dob.3_In_Frame_Del_p.T111del|MITF_uc021xam.1_In_Frame_Del_p.T20del|MITF_uc003doe.3_In_Frame_Del_p.T20del|MITF_uc003dof.3_In_Frame_Del_p.T20del|MITF_uc021xal.1_In_Frame_Del_p.T20del	NM_198159	NP_001171896	O75030	MITF_HUMAN	Homo sapiens microphthalmia-associated transcription factor (MITF), transcript variant 1, mRNA.	127					melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein binding			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		CTCGAAAACCCCACCAAGTACCA	0.488			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""						---	32	---	---	11	---					
SSPO	23145	broad.mit.edu	37	7	149476670	149476671	+	Frame_Shift_Ins	INS	-	A	A	rs66769486		TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr7:149476670_149476671insA	uc010lpk.3	+	9	1120_1121	c.1120_1121insA	c.(1120-1122)ctgfs	p.L374fs	SSPO_uc010lpl.1_Intron	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	374	VWFD 1.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GTGACAGCCCCTGGGGCTCATA	0.619													---	4	---	---	3	---					
CNTRL	11064	broad.mit.edu	37	9	123860722	123860722	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr9:123860722delA	uc004bkx.1	+	4	711	c.680delA	c.(679-681)gaafs	p.E227fs	CNTRL_uc004bkw.2_Frame_Shift_Del_p.E227fs	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN	Homo sapiens centriolin (CNTRL), mRNA.	227					G2/M transition of mitotic cell cycle|cell division	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						ATCCTAGTTGAAAATCCAGTT	0.368													---	72	---	---	22	---					
MALAT1	378938	broad.mit.edu	37	11	65269783	65269784	+	RNA	INS	-	T	T			TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr11:65269783_65269784insT	uc001odz.3	+	0		c.226_227insT			MALAT1_uc010roh.2_Non-coding_Transcript|AF113016_uc001ody.3_Non-coding_Transcript					Homo sapiens cDNA clone IMAGE:4291796, **** WARNING: chimeric clone ****.																		TAATTTAAAACTACTATAGAAA	0.312													---	28	---	---	13	---					
ZC3H4	23211	broad.mit.edu	37	19	47589699	47589713	+	In_Frame_Del	DEL	CCTCTGCCCCTGCCT	-	-	rs653615		TCGA-EE-A3AC-06A-11D-A196-08	TCGA-EE-A3AC-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	883d623b-c427-4444-9ee3-66d18648130f	f8f00311-8db5-4187-bcb8-5054d9fbdac3	g.chr19:47589699_47589713delCCTCTGCCCCTGCCT	uc002pga.4	-	5	836_850	c.798_812delAGGCAGGGGCAGAGG	c.(796-813)cgaggcaggggcagaggc>cgc	p.GRGRG267del	ZC3H4_uc002pgb.1_Intron	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	Homo sapiens zinc finger CCCH-type containing 4 (ZC3H4), mRNA.	267	Gly-rich.						nucleic acid binding|zinc ion binding	p.G267D(2)|p.R266*(1)		NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TCCCATAGAGCCTCTGCCCCTGCCTCGGCTGCCCC	0.665													---	41	---	---	21	---					
