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
OR51T1	401665	broad.mit.edu	37	11	4903600	4903600	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:4903600C>T	uc010qyp.2	+	0	552	c.552C>T	c.(550-552)ttC>ttT	p.F184F		NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily T, member 1 (OR51T1), mRNA.	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGCAGTTTTCTTACTTCCCC	0.468000														98			88		0	0	1	0	0
MRC2	9902	broad.mit.edu	37	17	60742020	60742020	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:60742020G>A	uc002jad.3	+	1	632	c.230G>A	c.(229-231)tGg>tAg	p.W77*	Y_RNA_uc021ubi.1_5'Flank	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	Homo sapiens mannose receptor, C type 2 (MRC2), mRNA.	77	Ricin B-type lectin.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GCCCAGCGCTGGAAGTGGGTC	0.642000														75			60		0	0	1	0	0
CDKN1A	1026	broad.mit.edu	37	6	36652072	36652072	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:36652072G>A	uc021yzb.1	+	2	296	c.194G>A	c.(193-195)tGg>tAg	p.W65*	CDKN1A_uc021yzc.1_Nonsense_Mutation_p.W65*|CDKN1A_uc011dtq.2_Nonsense_Mutation_p.W99*|CDKN1A_uc003omm.4_Nonsense_Mutation_p.W65*|CDKN1A_uc003omn.3_Nonsense_Mutation_p.W65*	NM_078467	NP_510867	P38936	CDN1A_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 1A (p21, Cip1) (CDKN1A), transcript variant 2, mRNA.	65					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|Ras protein signal transduction|S phase of mitotic cell cycle|cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|stress-induced premature senescence	PCNA-p21 complex|cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding	p.A64fs*25(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						GACTTCGCCTGGGAGCGTGTG	0.672000														82			36		0	0	1	0	0
UBQLNL	143630	broad.mit.edu	37	11	5537107	5537107	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:5537107C>T	uc001maz.4	-	0	850	c.565G>A	c.(565-567)Gag>Aag	p.E189K	HBG1_uc001mak.1_Intron	NM_145053	NP_659490	Q8IYU4	UBQLN_HUMAN	Homo sapiens ubiquilin-like (UBQLNL), mRNA.	189										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		CACATGAACTCCATGTTGGAC	0.478000														94			79		0	0	1	0	0
abParts	0	broad.mit.edu	37	22	22453527	22453527	+	RNA	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr22:22453527C>T	uc021wml.1	+	6		c.648C>T								Parts of antibodies, mostly variable regions.																		TCTCTGGCTCCATCCTTGGGA	0.562000														21			169		0	0	1	0	0
NHS	4810	broad.mit.edu	37	X	17744466	17744466	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:17744466G>A	uc011mix.2	+	6	2578	c.2240G>A	c.(2239-2241)aGc>aAc	p.S747N	NHS_uc004cxx.3_Missense_Mutation_p.S726N|NHS_uc004cxy.3_Missense_Mutation_p.S570N|NHS_uc004cxz.3_Missense_Mutation_p.S549N|NHS_uc004cya.3_Missense_Mutation_p.S449N	NM_001136024	NP_001129496	Q6T4R5	NHS_HUMAN	Homo sapiens Nance-Horan syndrome (congenital cataracts and dental anomalies) (NHS), transcript variant 2, mRNA.	726						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					AAGGCAGACAGCCTGGGCTGC	0.512000														106			71		0	0	1	0	0
TTC7A	57217	broad.mit.edu	37	2	47221588	47221588	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:47221588G>A	uc010fbb.3	+	6	1304	c.936G>A	c.(934-936)atG>atA	p.M312I	TTC7A_uc002rvm.3_Missense_Mutation_p.M278I|TTC7A_uc002rvn.1_Missense_Mutation_p.M193I|TTC7A_uc002rvo.3_Missense_Mutation_p.M312I|TTC7A_uc010fbc.3_Intron|TTC7A_uc002rvp.3_Missense_Mutation_p.M193I|TTC7A_uc002rvq.3_Missense_Mutation_p.M52I|TTC7A_uc002rvr.3_5'UTR	NM_020458	NP_065191	Q9ULT0	TTC7A_HUMAN	Homo sapiens tetratricopeptide repeat domain 7A (TTC7A), mRNA.	312							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			CTGAGTTCATGGGCAAGGAGG	0.612000														113			85		0	0	1	0	0
PTH2R	5746	broad.mit.edu	37	2	209302574	209302574	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:209302574C>T	uc010zjb.2	+	3	698	c.412C>T	c.(412-414)Cgc>Tgc	p.R138C	PTH2R_uc002vdb.3_Missense_Mutation_p.R127C	NM_005048	NP_005039	P49190	PTH2R_HUMAN	Homo sapiens parathyroid hormone 2 receptor (PTH2R), mRNA.	127						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		AGACTGCCTTCGCTTTCTGCA	0.378000														84			42		0	0	1	0	0
FAM214B	80256	broad.mit.edu	37	9	35107559	35107559	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr9:35107559C>T	uc003zwl.3	-	2	1038	c.713G>A	c.(712-714)tGc>tAc	p.C238Y	FAM214B_uc003zwm.3_Missense_Mutation_p.C238Y|FAM214B_uc003zwn.3_5'UTR|FAM214B_uc003zwo.3_Missense_Mutation_p.C238Y|FAM214B_uc003zwp.1_Missense_Mutation_p.C238Y|FAM214B_uc010mkk.1_Non-coding_Transcript|FAM214B_uc022bgj.1_Missense_Mutation_p.C238Y	NM_025182	NP_079458	Q7L5A3	K1539_HUMAN	Homo sapiens family with sequence similarity 214, member B (FAM214B), mRNA.	238						nucleus											CTTGGTGGGGCAGGGGCCTGG	0.697000														59			7		0	0	1	0	0
EML5	161436	broad.mit.edu	37	14	89148295	89148295	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:89148295G>A	uc021ryf.1	-	20	3312	c.3063C>T	c.(3061-3063)acC>acT	p.T1021T	EML5_uc021ryg.1_Silent_p.T1021T|EML5_uc001xxh.1_Silent_p.T160T	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	Homo sapiens echinoderm microtubule associated protein like 5 (EML5), mRNA.	1021						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						ATATTCTTAAGGTTTTATCAT	0.438000														80			52		0	0	1	0	0
SH2D3A	10045	broad.mit.edu	37	19	6760924	6760924	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:6760924C>T	uc002mft.3	-	2	338	c.144G>A	c.(142-144)gtG>gtA	p.V48V	SH2D3A_uc010xjg.2_Intron	NM_005490	NP_005481	Q9BRG2	SH23A_HUMAN	Homo sapiens SH2 domain containing 3A (SH2D3A), mRNA.	48	SH2.				JNK cascade|small GTPase mediated signal transduction	intracellular	SH3/SH2 adaptor activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						GGCAGGAGATCACGGGGTTGC	0.642000														44			30		0	0	1	0	0
ABL2	27	broad.mit.edu	37	1	179077360	179077360	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:179077360G>A	uc001gmj.4	-	11	3329	c.3042C>T	c.(3040-3042)tcC>tcT	p.S1014S	ABL2_uc010pnf.2_Silent_p.S911S|ABL2_uc010png.2_Silent_p.S890S|ABL2_uc010pnh.2_Silent_p.S993S|ABL2_uc001gmg.4_Silent_p.S896S|ABL2_uc001gmi.4_Silent_p.S999S|ABL2_uc010pne.2_Silent_p.S875S	NM_007314	NP_009298	P42684	ABL2_HUMAN	Homo sapiens v-abl Abelson murine leukemia viral oncogene homolog 2 (ABL2), transcript variant b, mRNA.	1014	Pro-rich.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TTTCTGATGTGGACTGTCCTG	0.582000			T	ETV6	AML									106			77		0	0	1	0	0
SCIN	85477	broad.mit.edu	37	7	12675748	12675748	+	Silent	SNP	A	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:12675748A>T	uc003ssn.4	+	9	1608	c.1398A>T	c.(1396-1398)ggA>ggT	p.G466G	SCIN_uc010ktt.3_Non-coding_Transcript|SCIN_uc003sso.4_Silent_p.G219G	NM_001112706	NP_149119	Q9Y6U3	ADSV_HUMAN	Homo sapiens scinderin (SCIN), transcript variant 1, mRNA.	466	Ca(2+)-dependent actin binding.				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		CCCTTGGAGGACAGGCTGTGC	0.483000														30			19		0	0	1	0	0
RNF10	9921	broad.mit.edu	37	12	120984355	120984355	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:120984355G>A	uc001typ.4	+	1	788	c.305G>A	c.(304-306)gGc>gAc	p.G102D	RNF10_uc010szk.2_Non-coding_Transcript|RNF10_uc001tyq.4_Missense_Mutation_p.G8D	NM_014868	NP_055683	Q8N5U6	RNF10_HUMAN	Homo sapiens ring finger protein 10 (RNF10), mRNA.	102	Interaction with MEOX2.|Ser-rich.				negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGGGGCGGCGGCAGCAGCAAA	0.443000														81			41		0	0	1	0	0
GFRAL	389400	broad.mit.edu	37	6	55216326	55216326	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:55216326C>T	uc003pcm.1	+	4	732	c.646C>T	c.(646-648)Cca>Tca	p.P216S		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.	216						integral to membrane	receptor activity	p.P216P(1)		NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GAACATGGTTCCACCCCCTAC	0.443000														137			45		0	0	1	0	0
PRKCZ	5590	broad.mit.edu	37	1	1987941	1987941	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:1987941C>T	uc001aiq.3	+	2	373	c.212C>T	c.(211-213)tCc>tTc	p.S71F		NM_002744	NP_001028754	Q05513	KPCZ_HUMAN	Homo sapiens protein kinase C, zeta (PRKCZ), transcript variant 1, mRNA.	71	OPR.				anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation	endosome	ATP binding|protein kinase C activity|zinc ion binding			breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)		TGCACGGTGTCCTCCCAGATG	0.647000														66			42		0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119732117	119732117	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:119732117C>T	uc002tln.1	+	5	721	c.589C>T	c.(589-591)Cca>Tca	p.P197S	MARCO_uc010yyf.1_Missense_Mutation_p.P119S	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	197	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	p.P197R(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						ACCCCAAGGCCCACCGGGAGT	0.552000														32			20		0	0	1	0	0
C20orf197	284756	broad.mit.edu	37	20	58645091	58645091	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr20:58645091G>A	uc002ybj.1	+	2	368	c.62G>A	c.(61-63)aGg>aAg	p.R21K		NM_173644	NP_775915	Q8N268	CT197_HUMAN	Homo sapiens chromosome 20 open reading frame 197 (C20orf197), mRNA.	21										large_intestine(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	5			BRCA - Breast invasive adenocarcinoma(7;2.33e-09)			CACAGCCACAGGCTGAAGGTG	0.547000														71			57		0	0	1	0	0
PPP6R2	9701	broad.mit.edu	37	22	50854526	50854526	+	Silent	SNP	G	C	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr22:50854526G>C	uc003blb.2	+	6	980	c.558G>C	c.(556-558)ctG>ctC	p.L186L	PPP6R2_uc003blc.3_Silent_p.L186L|PPP6R2_uc003bky.2_Silent_p.L186L|PPP6R2_uc003bla.2_Silent_p.L186L|PPP6R2_uc003bkz.2_Silent_p.L186L	NM_001242898	NP_001229827	O75170	PP6R2_HUMAN	Homo sapiens protein phosphatase 6, regulatory subunit 2 (PPP6R2), transcript variant 1, mRNA.	186						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						TTCAGTGGCTGAATGAAGAGA	0.507000														88			3		0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154395113	154395113	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:154395113A>C	uc010jih.1	+	0	1854	c.1694A>C	c.(1693-1695)gAa>gCa	p.E565A		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	565					axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AAAAATCTAGAATTAGAAGTC	0.428000														40			41		0	0	1	0	0
abParts	0	broad.mit.edu	37	22	22758930	22758930	+	RNA	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr22:22758930G>A	uc021wml.1	+	61		c.6720G>A								Parts of antibodies, mostly variable regions.																		CGACCCTCAGGGATTCCTGAC	0.547000														28			155		0	0	1	0	0
IRS1	3667	broad.mit.edu	37	2	227661055	227661055	+	Nonsense_Mutation	SNP	A	C	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:227661055A>C	uc021vxn.1	-	0	2400	c.2400T>G	c.(2398-2400)taT>taG	p.Y800*	IRS1_uc002voh.4_Nonsense_Mutation_p.Y800*	NM_005544	NP_005535	P35568	IRS1_HUMAN	Homo sapiens insulin receptor substrate 1 (IRS1), mRNA.	800					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	SH2 domain binding|insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CTGTTGCAGCATAGAGAAGGC	0.632000														135			102		0	0	1	0	0
OR52E2	119678	broad.mit.edu	37	11	5079915	5079915	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:5079915C>T	uc010qyw.2	-	0	943	c.943G>A	c.(943-945)Gaa>Aaa	p.E315K		NM_001005164	NP_001005164	Q8NGJ4	O52E2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 2 (OR52E2), mRNA.	315					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		TCTTCCTTTTCCATTCCTTGT	0.343000														53			31		0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166894560	166894560	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:166894560C>T	uc002udo.4	-	16	2899	c.2672G>A	c.(2671-2673)gGa>gAa	p.G891E	SCN1A_uc010fpk.3_Missense_Mutation_p.G863E|SCN1A_uc021vsb.1_Missense_Mutation_p.G880E	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	891						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.G880E(1)		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)	GGTTAAATTTCCCAGAGCCCC	0.443000														68			45		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179440691	179440691	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:179440691T>C	uc021vsy.1	-	274	62689	c.62464A>G	c.(62464-62466)Aac>Gac	p.N20822D	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.N14517D|TTN_uc021vta.1_Missense_Mutation_p.N14450D|TTN_uc021vtb.1_Missense_Mutation_p.N14325D|AX746670_uc002umv.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	21749	Fibronectin type-III 51.						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)			TTTTCAATGTTGGCTCGGTTT	0.403000														156			103		0	0	1	0	0
EDNRA	1909	broad.mit.edu	37	4	148406836	148406836	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr4:148406836G>A	uc003iky.3	+	1	533	c.3G>A	c.(1-3)atG>atA	p.M1I	EDNRA_uc011cid.2_Intron|EDNRA_uc010ipg.2_Missense_Mutation_p.M1I|EDNRA_uc010ipe.1_Missense_Mutation_p.M1I|EDNRA_uc010ipf.1_Non-coding_Transcript	NM_001957	NP_001948	P25101	EDNRA_HUMAN	Homo sapiens endothelin receptor type A (EDNRA), transcript variant 1, mRNA.	1					activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Bosentan(DB00559)	GCCTCAAGATGGAAACCCTTT	0.388000														89			64		0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140515278	140515278	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:140515278G>A	uc003liq.3	+	0	479	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	88	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTTCTATATGAAAAACTAGA	0.473000														95			43		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20955866	20955866	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr16:20955866G>A	uc010vbe.2	-	57	11463	c.11463C>T	c.(11461-11463)gtC>gtT	p.V3821V	DNAH3_uc010vbd.2_Silent_p.V1256V	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3821					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)		GGGTCAGCAGGACCCCCTCAA	0.557000														96			65		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9075374	9075374	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:9075374C>T	uc002mkp.3	-	2	12276	c.12072G>A	c.(12070-12072)atG>atA	p.M4024I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4026	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						AGCTGGTGTCCATGTAAGGGC	0.458000														70			49		0	0	1	0	0
SEMA4A	64218	broad.mit.edu	37	1	156146255	156146255	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:156146255G>A	uc001fnl.3	+	14	1932	c.1753G>A	c.(1753-1755)Gcc>Acc	p.A585T	SEMA4A_uc009wrq.3_Missense_Mutation_p.A585T|SEMA4A_uc001fnm.3_Missense_Mutation_p.A585T|SEMA4A_uc001fnn.3_Missense_Mutation_p.A453T|SEMA4A_uc001fno.3_Missense_Mutation_p.A585T	NM_001193301	NP_071762	Q9H3S1	SEM4A_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A (SEMA4A), transcript variant 3, mRNA.	585	Ig-like C2-type.				axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					CCACCTGTCAGCCTTGGCCTC	0.532000														48			39		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22690222	22690222	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:22690222C>T	uc010ajo.1	+	0	135	c.97C>T	c.(97-99)Cct>Tct	p.P33S	TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc021rpv.1_Intron|TCRA_uc010ajn.1_Missense_Mutation_p.P61S					Homo sapiens mRNA for T cell receptor alpha variable 13, partial cds, clone: SEB 7.																		TGGGGAAGGTCCTGTCCTCTT	0.433000														96			87		0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130415299	130415299	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:130415299C>T	uc004ewe.4	-	8	1822	c.1539G>A	c.(1537-1539)tgG>tgA	p.W513*	IGSF1_uc004ewd.3_Nonsense_Mutation_p.W513*|IGSF1_uc022cdv.1_Nonsense_Mutation_p.W504*|IGSF1_uc004ewf.2_Nonsense_Mutation_p.W493*	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	513					regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GAACGTAATTCCAGGTGAGAT	0.493000														224			184		0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62751604	62751604	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:62751604C>T	uc003dll.2	-	1	857	c.497G>A	c.(496-498)gGg>gAg	p.G166E	CADPS_uc003dlm.2_Missense_Mutation_p.G166E|CADPS_uc003dln.2_Missense_Mutation_p.G166E|CADPS_uc021wzv.1_Missense_Mutation_p.G166E	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Homo sapiens Ca++-dependent secretion activator (CADPS), transcript variant 1, mRNA.	166					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	p.G166V(3)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CTGGGTTTCCCCATTGAGGAA	0.473000														24			75		0	0	1	0	0
ABCA10	10349	broad.mit.edu	37	17	67197708	67197708	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:67197708G>A	uc010dfa.1	-	10	1987	c.1108C>T	c.(1108-1110)Cct>Tct	p.P370S	ABCA10_uc010wqt.1_Non-coding_Transcript|ABCA10_uc010dfb.1_5'UTR|ABCA10_uc010dfc.1_Intron	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA.	370					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					GAATGCTCAGGATTTATTTCA	0.353000														50			54		0	0	1	0	0
PPIG	9360	broad.mit.edu	37	2	170470977	170470977	+	Silent	SNP	A	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:170470977A>T	uc002uez.3	+	7	601	c.381A>T	c.(379-381)acA>acT	p.T127T	PPIG_uc010fpx.3_Silent_p.T112T|PPIG_uc010fpy.3_Silent_p.T123T|PPIG_uc002ufa.3_Silent_p.T127T|PPIG_uc002ufb.3_Silent_p.T127T|PPIG_uc002ufc.1_Silent_p.T127T|PPIG_uc002ufd.3_Silent_p.T127T	NM_004792	NP_004783	Q13427	PPIG_HUMAN	Homo sapiens peptidylprolyl isomerase G (cyclophilin G) (PPIG), mRNA.	127	PPIase cyclophilin-type.				RNA splicing|protein folding	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	p.I126V(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	CCAAAAGAACAACGAAACCAA	0.239000														52			33		0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143039157	143039157	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:143039157T>G	uc003wcr.1	+	14	1805	c.1718T>G	c.(1717-1719)cTg>cGg	p.L573R	CLCN1_uc011ktc.1_Missense_Mutation_p.L185R	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	573					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)					GCCCAGAGCCTGCAGCCCTCT	0.537000														78			46		0	0	1	0	0
NRG1	3084	broad.mit.edu	37	8	32611948	32611948	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr8:32611948C>T	uc003xiv.2	+	7	1276	c.759C>T	c.(757-759)ctC>ctT	p.L253L	NRG1_uc022ats.1_Silent_p.L203L|NRG1_uc011lbf.1_Silent_p.L250L|NRG1_uc010lvo.2_Silent_p.L250L|NRG1_uc003xiu.2_Silent_p.L258L|NRG1_uc003xiw.2_Silent_p.L250L|NRG1_uc003xit.2_Silent_p.L253L|NRG1_uc010lvr.2_5'UTR|NRG1_uc010lvs.2_5'UTR|NRG1_uc010lvp.2_Silent_p.L207L|NRG1_uc010lvq.2_Silent_p.L183L|NRG1_uc011lbg.1_Silent_p.L99L|NRG1_uc011lbh.1_Silent_p.L96L|NRG1_uc003xiz.1_Non-coding_Transcript|NRG1_uc003xja.2_Silent_p.L64L	NM_013964	NP_039258	Q02297	NRG1_HUMAN	Homo sapiens neuregulin 1 (NRG1), transcript variant HRG-alpha, mRNA.	253					Notch signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	ErbB-3 class receptor binding|cytokine activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GCATCGCCCTCCTTGTGGTCG	0.517000														12			40		0	0	1	0	0
SP140	11262	broad.mit.edu	37	2	231157430	231157430	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:231157430G>A	uc002vql.3	+	19	2010	c.1895G>A	c.(1894-1896)gGa>gAa	p.G632E	SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqn.3_Missense_Mutation_p.G518E|SP140_uc002vqm.3_Missense_Mutation_p.G572E|SP140_uc010fxl.3_Missense_Mutation_p.G605E	NM_007237	NP_009168	Q13342	LY10_HUMAN	Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA.	632	SAND.				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GAAATCAAAGGAGGCCATGCA	0.522000														66			55		0	0	1	0	0
DACT1	51339	broad.mit.edu	37	14	59113377	59113377	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:59113377G>A	uc001xdw.3	+	3	2200	c.2036G>A	c.(2035-2037)tGg>tAg	p.W679*	DACT1_uc010trv.2_Nonsense_Mutation_p.W398*|DACT1_uc001xdx.3_Nonsense_Mutation_p.W642*|DACT1_uc010trw.2_Nonsense_Mutation_p.W398*	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	Homo sapiens dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis) (DACT1), transcript variant 1, mRNA.	679					Wnt receptor signaling pathway|multicellular organismal development	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						TACCGGCGGTGGAAGTCCTCG	0.716000														20			20		0	0	1	0	0
DAG1	1605	broad.mit.edu	37	3	49569010	49569010	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:49569010C>T	uc021wxz.1	+	2	1535	c.1066C>T	c.(1066-1068)Cct>Tct	p.P356S	DAG1_uc021wya.1_Missense_Mutation_p.P356S|DAG1_uc021wyb.1_Missense_Mutation_p.P356S|DAG1_uc021wyc.1_Missense_Mutation_p.P356S|DAG1_uc021wyd.1_Missense_Mutation_p.P356S|DAG1_uc021wye.1_Missense_Mutation_p.P356S|DAG1_uc021wyf.1_Missense_Mutation_p.P356S|DAG1_uc021wyg.1_Missense_Mutation_p.P356S|DAG1_uc021wyh.1_Missense_Mutation_p.P356S|DAG1_uc021wyi.1_Missense_Mutation_p.P356S|DAG1_uc021wyj.1_Missense_Mutation_p.P356S|DAG1_uc021wyk.1_Missense_Mutation_p.P356S|DAG1_uc003cxc.4_Missense_Mutation_p.P356S	NM_001177643	NP_001171114	Q14118	DAG1_HUMAN	Homo sapiens dystroglycan 1 (dystrophin-associated glycoprotein 1) (DAG1), transcript variant 12, mRNA.	356	Mucin-like domain.|Required for laminin recognition.|Thr-rich.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GACCATGGCTCCTCCAGTCAG	0.612000														18			98		0	0	1	0	0
C19orf75	284369	broad.mit.edu	37	19	51768652	51768652	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:51768652C>A	uc002pwb.1	+	2	434	c.53C>A	c.(52-54)tCc>tAc	p.S18Y	C19orf75_uc010eov.1_Intron|C19orf75_uc010ycw.1_Intron	NM_173635	NP_775906	Q8N7X8	CS075_HUMAN	Homo sapiens chromosome 19 open reading frame 75 (C19orf75), mRNA.	18						integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)	18						TCCTCTTGCTCCTTGGAGAAG	0.577000														131			132		1.51433e-70	1.53566e-70	1	1	0
GRM2	2912	broad.mit.edu	37	3	51743392	51743392	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:51743392T>G	uc010hlv.3	+	1	632	c.393T>G	c.(391-393)gaT>gaG	p.D131E	GRM2_uc003dbo.4_Intron|GRM2_uc010hlu.3_Non-coding_Transcript	NM_000839	NP_000830	Q14416	GRM2_HUMAN	Homo sapiens glutamate receptor, metabotropic 2 (GRM2), transcript variant 1, mRNA.	131					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	CCCATGGTGATGCTCCCACTG	0.612000														5			11		0	0	1	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12918948	12918948	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:12918948G>A	uc001aum.1	+	1	171	c.84G>A	c.(82-84)atG>atA	p.M28I		NM_023014	NP_075390	O60811	PRAM2_HUMAN	Homo sapiens PRAME family member 2 (PRAMEF2), mRNA.	28								p.M28K(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCTGCCATGGAGGAGCTGC	0.607000														199			88		0	0	1	0	0
ERG	2078	broad.mit.edu	37	21	39795450	39795450	+	Silent	SNP	G	A	A	rs146525668		TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr21:39795450G>A	uc010gnw.3	-	4	586	c.291C>T	c.(289-291)ggC>ggT	p.G97G	ERG_uc021wjd.1_Silent_p.G97G|ERG_uc002yxa.3_Silent_p.G90G|ERG_uc011aek.2_5'UTR|ERG_uc010gnv.3_5'UTR|ERG_uc010gnx.3_Silent_p.G97G|ERG_uc011ael.2_Silent_p.G97G|ERG_uc002yxb.3_Silent_p.G97G|ERG_uc011aem.1_Silent_p.G90G|ERG_uc002yxc.4_Silent_p.G97G	NM_001243428	NP_001230357	P11308	ERG_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog (avian) (ERG), transcript variant 5, mRNA.	97					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)				CCATCTTCCCGCCTTTGGCCA	0.517000			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""									71			55		0	0	1	0	0
UGT2B28	54490	broad.mit.edu	37	4	70146416	70146416	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr4:70146416C>T	uc003hej.3	+	0	200	c.198C>T	c.(196-198)ccC>ccT	p.P66P	UGT2B28_uc010ihr.3_Silent_p.P66P	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	66					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	TTTTTGATCCCAATGACGCAT	0.388000														121			99		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57325315	57325315	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:57325315G>A	uc002qnu.2	-	6	4846	c.4495C>T	c.(4495-4497)Cag>Tag	p.Q1499*	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Nonsense_Mutation_p.Q1470*|PEG3_uc002qnv.2_Nonsense_Mutation_p.Q1499*|PEG3_uc002qnw.2_Nonsense_Mutation_p.Q1375*|PEG3_uc002qnx.2_Nonsense_Mutation_p.Q1373*|PEG3_uc010etr.2_Nonsense_Mutation_p.Q1499*	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	1499	Glu-rich.				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)		TCTTCTACCTGAATCTCTTGA	0.483000														131			84		0	0	1	0	0
USP15	9958	broad.mit.edu	37	12	62783684	62783684	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:62783684C>A	uc001src.2	+	13	1835	c.1760C>A	c.(1759-1761)tCa>tAa	p.S587*	USP15_uc001srb.2_Nonsense_Mutation_p.S558*	NM_001252078	NP_001239007	Q9Y4E8	UBP15_HUMAN	Homo sapiens ubiquitin specific peptidase 15 (USP15), transcript variant 1, mRNA.	587					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.S558*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		ACTGGTTCTTCACTTTTTGGT	0.393000														52			45		1.03325e-14	1.03999e-14	1	1	0
TET3	200424	broad.mit.edu	37	2	74328695	74328695	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:74328695G>A	uc002skb.4	+	8	4375	c.4375G>A	c.(4375-4377)Ggg>Agg	p.G1459R		NM_144993	NP_659430	O43151	TET3_HUMAN	Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA.	1459							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GAAGCTGTTTGGGGCTCTGAA	0.657000														6			5		0	0	1	0	0
R3HDM2	22864	broad.mit.edu	37	12	57677670	57677670	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:57677670G>A	uc009zpm.1	-	10	1101	c.1066C>T	c.(1066-1068)Ctt>Ttt	p.L356F	R3HDM2_uc010srn.1_Non-coding_Transcript|R3HDM2_uc001snu.2_Missense_Mutation_p.L17F|R3HDM2_uc001snr.2_Missense_Mutation_p.L83F|R3HDM2_uc001sns.2_Missense_Mutation_p.L356F|R3HDM2_uc001snt.2_Missense_Mutation_p.L370F	NM_014925	NP_055740	Q9Y2K5	R3HD2_HUMAN	Homo sapiens R3H domain containing 2 (R3HDM2), mRNA.	356	Ser-rich.					nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CCTCGGGTAAGGATAGAGATT	0.567000														188			133		0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	T	T	rs121913254		TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	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)				184			138		7.33781e-80	7.44815e-80	1	1	0
CA2	760	broad.mit.edu	37	8	86392938	86392938	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr8:86392938G>A	uc003ydk.2	+	6	883	c.703G>A	c.(703-705)Gaa>Aaa	p.E235K	CA2_uc022axe.1_Non-coding_Transcript	NM_000067	NP_000058	P00918	CAH2_HUMAN	Homo sapiens carbonic anhydrase II (CA2), mRNA.	235					one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	TGGGGAGGGTGAACCCGAAGA	0.393000														70			87		0	0	1	0	0
TDRKH	11022	broad.mit.edu	37	1	151754010	151754010	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:151754010G>A	uc009wnb.1	-	2	360	c.178C>T	c.(178-180)Ccc>Tcc	p.P60S	TDRKH_uc001eyy.2_5'UTR|TDRKH_uc001ezb.4_Missense_Mutation_p.P60S|TDRKH_uc001ezc.4_Missense_Mutation_p.P60S|TDRKH_uc001eza.4_Missense_Mutation_p.P60S|TDRKH_uc001ezd.4_Missense_Mutation_p.P60S|TDRKH_uc010pdn.1_5'UTR	NM_006862	NP_006853	Q9Y2W6	TDRKH_HUMAN	Homo sapiens tudor and KH domain containing (TDRKH), transcript variant 3, mRNA.	60	KH 1.						RNA binding			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCCTCCTGGGGAACCCGCATC	0.463000														121			89		0	0	1	0	0
OR8B4	283162	broad.mit.edu	37	11	124293964	124293964	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:124293964G>A	uc010sak.2	-	0	804	c.804C>T	c.(802-804)aaC>aaT	p.N268N		NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 4 (OR8B4), mRNA.	268					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)		ATCTGCCATGGTTCATAGAGC	0.448000														46			35		0	0	1	0	0
MEGF11	84465	broad.mit.edu	37	15	66386797	66386797	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr15:66386797C>T	uc002apm.2	-	4	478	c.337G>A	c.(337-339)Gtt>Att	p.V113I	MEGF11_uc002apl.2_Missense_Mutation_p.V38I|MEGF11_uc002apn.1_Missense_Mutation_p.V113I	NM_032445	NP_115821	A6BM72	MEG11_HUMAN	Homo sapiens multiple EGF-like-domains 11 (MEGF11), mRNA.	113	EGF-like 1.					basolateral plasma membrane|integral to membrane		p.V38I(1)|p.V113I(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						TCCGGGGAAACGCAGCGGCCG	0.632000														2			2		0	0	1	0	0
PTPN9	5780	broad.mit.edu	37	15	75798248	75798248	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr15:75798248A>G	uc002bal.3	-	6	1244	c.736T>C	c.(736-738)Tgg>Cgg	p.W246R		NM_002833	NP_002824	P43378	PTN9_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 9 (PTPN9), mRNA.	246						cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGGAAATTCCAAGTGGCGAGA	0.512000														63			8		0	0	1	0	0
PADI6	353238	broad.mit.edu	37	1	17721601	17721601	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:17721601A>C	uc001bak.1	+	12	1492	c.1492A>C	c.(1492-1494)Aag>Cag	p.K498Q		NM_207421	NP_997304	Q6TGC4	PADI6_HUMAN	Homo sapiens peptidyl arginine deiminase, type VI (PADI6), mRNA.	490					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TGAGGGCAAAAAGGTCTGCTT	0.493000														132			80		0	0	1	0	0
CCDC129	223075	broad.mit.edu	37	7	31611742	31611742	+	Missense_Mutation	SNP	C	T	T	rs139174342		TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:31611742C>T	uc011kae.2	+	5	425	c.413C>T	c.(412-414)cCc>cTc	p.P138L	CCDC129_uc011kad.1_Missense_Mutation_p.P122L|CCDC129_uc003tcj.1_Missense_Mutation_p.P112L|CCDC129_uc003tci.1_Missense_Mutation_p.P111L|CCDC129_uc003tck.1_Missense_Mutation_p.P20L	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA.	112										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TCAGAAACTCCCATCCTATCC	0.388000														20			8		0	0	1	0	0
SLC10A3	8273	broad.mit.edu	37	X	153716408	153716408	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:153716408G>C	uc022cig.1	-	0	872	c.872C>G	c.(871-873)tCt>tGt	p.S291C	UBL4A_uc004flo.3_5'Flank|SLC10A3_uc004flr.3_Missense_Mutation_p.S262C|SLC10A3_uc004flq.3_Missense_Mutation_p.S291C|SLC10A3_uc004flp.3_Missense_Mutation_p.S291C	NM_019848	NP_062822	P09131	P3_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 3 (SLC10A3), transcript variant 1, mRNA.	291					organic anion transport	integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGCCACCGTAGAGAGGAAAGT	0.612000														119			6		0	0	1	0	0
TAAR8	83551	broad.mit.edu	37	6	132873848	132873848	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:132873848C>T	uc011ecj.2	+	0	17	c.17C>T	c.(16-18)tCc>tTc	p.S6F		NM_053278	NP_444508	Q969N4	TAAR8_HUMAN	Homo sapiens trace amine associated receptor 8 (TAAR8), mRNA.	6						plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		AGCAATTTTTCCCAACCTGTT	0.393000														8			54		0	0	1	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18809473	18809473	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:18809473G>A	uc001bax.3	+	0	2050	c.1998G>A	c.(1996-1998)aaG>aaA	p.K666K	KLHDC7A_uc009vpg.3_Silent_p.K448K	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	666						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGGGCAGCAAGGACCGCACGG	0.682000														36			20		0	0	1	0	0
TAOK2	9344	broad.mit.edu	37	16	29998716	29998716	+	Silent	SNP	T	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr16:29998716T>A	uc010bzm.2	+	14	3179	c.3144T>A	c.(3142-3144)gtT>gtA	p.V1048V	BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.2_Intron|TAOK2_uc021tgf.1_Silent_p.V928V|TAOK2_uc002dva.2_Silent_p.V1041V|TAOK2_uc002dvc.2_Intron|TAOK2_uc002dvd.2_Silent_p.V868V	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	Homo sapiens TAO kinase 2 (TAOK2), transcript variant 1, mRNA.	1041	Leu-rich.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						TCATGGGTGTTCCCCTGGGCC	0.687000														16			14		0	0	1	0	0
ST14	6768	broad.mit.edu	37	11	130069878	130069878	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:130069878C>T	uc001qfw.3	+	15	2033	c.1840C>T	c.(1840-1842)Cgt>Tgt	p.R614C		NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN	Homo sapiens suppression of tumorigenicity 14 (colon carcinoma) (ST14), mRNA.	614					proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	GAGACAGGCTCGTGTTGTTGG	0.612000														117			94		0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	26026220	26026220	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr15:26026220C>T	uc010ayu.3	-	1	706	c.600G>A	c.(598-600)ctG>ctA	p.L200L		NM_024490	NP_077816	O60312	AT10A_HUMAN	Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA.	200					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TCTCTCCATCCAGGTTGGCGG	0.597000														96			76		0	0	1	0	0
KCNH1	3756	broad.mit.edu	37	1	211280701	211280701	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:211280701C>T	uc001hib.2	-	1	268	c.98G>A	c.(97-99)gGg>gAg	p.G33E	KCNH1_uc001hic.2_Missense_Mutation_p.G33E	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	33	PAS.				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CTGAGCATTCCCCAACACAAA	0.393000														75			77		0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72828641	72828641	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr16:72828641G>A	uc002fck.3	-	8	8613	c.7940C>T	c.(7939-7941)aCc>aTc	p.T2647I	ZFHX3_uc002fcl.3_Missense_Mutation_p.T1733I	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	2647					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CGGTGTGATGGTTGTTCTCAA	0.502000														297			221		0	0	1	0	0
TAT	6898	broad.mit.edu	37	16	71604618	71604618	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr16:71604618G>A	uc002fap.2	-	7	975	c.876C>T	c.(874-876)atC>atT	p.I292I		NM_000353	NP_000344	P17735	ATTY_HUMAN	Homo sapiens tyrosine aminotransferase (TAT), nuclear gene encoding mitochondrial protein, mRNA.	292					2-oxoglutarate metabolic process|L-phenylalanine catabolic process|glutamate metabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	CATGAATGAGGATCCAGCCCA	0.493000														65			57		0	0	1	0	0
IGF1R	3480	broad.mit.edu	37	15	99459265	99459265	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr15:99459265C>T	uc002bul.3	+	8	1951	c.1901C>T	c.(1900-1902)cCc>cTc	p.P634L	IGF1R_uc010urq.2_Missense_Mutation_p.P634L|IGF1R_uc010bon.3_Missense_Mutation_p.P634L|IGF1R_uc010urr.1_Missense_Mutation_p.P84L	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Homo sapiens insulin-like growth factor 1 receptor (IGF1R), mRNA.	634	Fibronectin type-III 2.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of cell proliferation|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	TGGAACCCTCCCTCTCTGCCC	0.517000														83			102		0	0	1	0	0
KLK6	5653	broad.mit.edu	37	19	51465129	51465129	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:51465129G>A	uc002puh.3	-	3	545	c.480C>T	c.(478-480)ttC>ttT	p.F160F	KLK6_uc010eoj.3_Intron|KLK6_uc002pui.3_Silent_p.F151F|KLK6_uc002puj.3_Silent_p.F44F|KLK6_uc010ycn.2_Silent_p.F44F|KLK6_uc002pul.3_Silent_p.F151F|KLK6_uc002pum.3_Silent_p.F44F	NM_001012965	NP_001012983	Q92876	KLK6_HUMAN	Homo sapiens kallikrein-related peptidase 6 (KLK6), transcript variant C, mRNA.	151	Peptidase S1.				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		TGGTGTCAGGGAAATCACCTG	0.587000														97			79		0	0	1	0	0
PAMR1	25891	broad.mit.edu	37	11	35492257	35492257	+	Missense_Mutation	SNP	C	T	T	rs139194536		TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:35492257C>T	uc001mwf.3	-	4	647	c.604G>A	c.(604-606)Gag>Aag	p.E202K	PAMR1_uc001mwg.3_Missense_Mutation_p.E202K|PAMR1_uc010rew.2_Intron|PAMR1_uc010rex.2_Missense_Mutation_p.E162K	NM_015430	NP_056245	Q6UXH9	PAMR1_HUMAN	Homo sapiens peptidase domain containing associated with muscle regeneration 1 (PAMR1), transcript variant 1, mRNA.	202	CUB.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						GCTGGCCGCTCGTTGCCACAG	0.517000														56			53		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61834949	61834949	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr10:61834949G>T	uc001jky.3	-	36	6028	c.5690C>A	c.(5689-5691)tCc>tAc	p.S1897Y	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	1897	Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.S1896C(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CTCCTGACTGGAAGATAAAGA	0.448000														14			26		3.90053e-15	3.92964e-15	1	1	0
KCNJ18	100134444	broad.mit.edu	37	17	21319242	21319242	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:21319242C>T	uc021tss.1	+	2	958	c.588C>T	c.(586-588)ttC>ttT	p.F196F	KCNJ18_uc002gyv.1_Silent_p.F196F|KCNJ18_uc021tst.1_Silent_p.F196F	NM_001194958	NP_001181887	B7U540	IRK18_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 18 (KCNJ18), mRNA.	196						integral to membrane	inward rectifier potassium channel activity										CGCTGCTGTTCAGCCACAACG	0.617000														76			16		0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55211055	55211055	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:55211055C>T	uc003tqk.3	+	2	544	c.298C>T	c.(298-300)Cct>Tct	p.P100S	EGFR_uc003tqh.3_Missense_Mutation_p.P100S|EGFR_uc003tqi.3_Missense_Mutation_p.P100S|EGFR_uc003tqj.3_Missense_Mutation_p.P100S|EGFR_uc022adm.1_Missense_Mutation_p.P100S|EGFR_uc010kzg.2_Missense_Mutation_p.P100S|EGFR_uc022adn.1_Missense_Mutation_p.P100S|EGFR_uc011kco.2_Missense_Mutation_p.P47S	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	100					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GGAGCGAATTCCTTTGGAAAA	0.408000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				83			65		0	0	1	0	0
CGNL1	84952	broad.mit.edu	37	15	57823921	57823921	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr15:57823921G>A	uc010bfw.3	+	14	3428	c.3235G>A	c.(3235-3237)Gaa>Aaa	p.E1079K	CGNL1_uc002aeg.3_Missense_Mutation_p.E1079K	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	1079						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)		GGAACTGGAAGAAGAGAGAAA	0.453000														95			97		0	0	1	0	0
NOX5	79400	broad.mit.edu	37	15	69335086	69335086	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr15:69335086C>T	uc002ars.2	+	9	1629	c.1588C>T	c.(1588-1590)Cgt>Tgt	p.R530C	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Missense_Mutation_p.R484C|NOX5_uc002arp.2_Missense_Mutation_p.R512C|NOX5_uc010bid.2_Missense_Mutation_p.R495C|NOX5_uc010bie.2_Missense_Mutation_p.R330C|NOX5_uc002arr.2_Missense_Mutation_p.R502C|NOX5_uc010bif.2_Non-coding_Transcript	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.	530	C-terminal catalytic region.|FAD-binding FR-type.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CCCACTGGGCCGTGGTTCTAA	0.537000														62			21		0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5462406	5462406	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:5462406T>A	uc002gci.3	-	3	2165	c.1610A>T	c.(1609-1611)aAg>aTg	p.K537M	NLRP1_uc002gcg.1_Missense_Mutation_p.K537M|NLRP1_uc002gch.4_Missense_Mutation_p.K537M|NLRP1_uc002gck.3_Missense_Mutation_p.K537M|NLRP1_uc002gcj.3_Missense_Mutation_p.K537M|NLRP1_uc002gcl.3_Missense_Mutation_p.K537M|NLRP1_uc010clh.3_Missense_Mutation_p.K537M	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	537	NACHT.				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GAGTTTTTCCTTCCGCTTCAT	0.542000														130			107		0	0	1	0	0
MB21D2	151963	broad.mit.edu	37	3	192516621	192516621	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:192516621G>A	uc011bsp.2	-	1	1351	c.1030C>T	c.(1030-1032)Cct>Tct	p.P344S		NM_178496	NP_848591	Q8IYB1	M21D2_HUMAN	Homo sapiens Mab-21 domain containing 2 (MB21D2), mRNA.	344										endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						TAGTTGGCAGGAAGTCTGTCG	0.532000														46			42		0	0	1	0	0
VRTN	55237	broad.mit.edu	37	14	74825433	74825433	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:74825433G>A	uc021rwl.1	+	0	1947	c.1947G>A	c.(1945-1947)acG>acA	p.T649T	VRTN_uc001xpw.4_Silent_p.T649T	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	Homo sapiens vertebrae development homolog (pig) (VRTN), mRNA.	649					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						TCGCTACCACGAAGTTCAAGG	0.612000														55			43		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9072036	9072036	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:9072036G>A	uc002mkp.3	-	2	15614	c.15410C>T	c.(15409-15411)tCc>tTc	p.S5137F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5139	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						AGGGGAATGGGATTCATGTCC	0.453000														94			59		0	0	1	0	0
SCG2	7857	broad.mit.edu	37	2	224462739	224462739	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:224462739C>T	uc021vxk.1	-	0	1262	c.1262G>A	c.(1261-1263)cGt>cAt	p.R421H	SCG2_uc002vnm.3_Missense_Mutation_p.R421H	NM_003469	NP_003460	P13521	SCG2_HUMAN	Homo sapiens secretogranin II (SCG2), mRNA.	421			R -> G (in dbSNP:rs17856669).		MAPKKK cascade|angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		AGTCCCAGCACGACCAGGTGT	0.483000														62			60		0	0	1	0	0
DNAJC14	85406	broad.mit.edu	37	12	56222238	56222238	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:56222238G>C	uc001shu.2	-	0	261	c.205C>G	c.(205-207)Cat>Gat	p.H69D	DNAJC14_uc001shx.1_Missense_Mutation_p.H69D|DNAJC14_uc009zob.1_Missense_Mutation_p.H69D|DNAJC14_uc001shy.1_Missense_Mutation_p.H69D	NM_032364	NP_115740	Q6Y2X3	DJC14_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 14 (DNAJC14), mRNA.	69					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						TCCAACCAATGGGCTGGGTTT	0.577000														123			73		0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59157987	59157987	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr18:59157987C>T	uc010dps.1	+	0	353	c.201C>T	c.(199-201)ttC>ttT	p.F67F	CDH20_uc002lif.2_Silent_p.F61F	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	Homo sapiens cadherin 20, type 2 (CDH20), mRNA.	67	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.F67F(2)		breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				ACCAGTTTTTCGTTCTGGAAG	0.478000														122			83		0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103444439	103444439	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:103444439G>A	uc001dum.3	-	33	3040	c.2722C>T	c.(2722-2724)Ccc>Tcc	p.P908S	COL11A1_uc001duk.3_Missense_Mutation_p.P92S|COL11A1_uc001dul.3_Missense_Mutation_p.P896S|COL11A1_uc001dun.3_Missense_Mutation_p.P857S|COL11A1_uc009weh.3_Missense_Mutation_p.P780S	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	896	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTCCCAGTGGGACCTCTTGCA	0.408000														79			42		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140255408	140255408	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:140255408C>T	uc003lic.2	+	0	478	c.351C>T	c.(349-351)ttC>ttT	p.F117F	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Silent_p.F117F	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	132	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)			TGCAGGTTTTCCATGTGGACG	0.562000														211			143		0	0	1	0	0
C14orf135	64430	broad.mit.edu	37	14	60591812	60591812	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:60591812G>A	uc001xer.4	+	7	2743	c.2221G>A	c.(2221-2223)Gta>Ata	p.V741I	C14orf135_uc001xeq.2_Missense_Mutation_p.V741I|C14orf135_uc010apm.3_Non-coding_Transcript	NM_022495	NP_071940	Q63HM2	CN135_HUMAN	Homo sapiens chromosome 14 open reading frame 135 (C14orf135), mRNA.	975						integral to membrane		p.V741L(2)		endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(585;0.163)		OV - Ovarian serous cystadenocarcinoma(108;0.127)		TGTTCATACAGTAATGACTTG	0.363000														11			14		0	0	1	0	0
CARD6	84674	broad.mit.edu	37	5	40852530	40852530	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:40852530G>A	uc003jmg.3	+	2	1171	c.1096G>A	c.(1096-1098)Gaa>Aaa	p.E366K		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA.	366					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						GGAGAATTTGGAAATTCGAGA	0.458000														56			34		0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634452	70634452	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:70634452G>A	uc001xly.3	-	1	1442	c.688C>T	c.(688-690)Cag>Tag	p.Q230*	SLC8A3_uc001xlw.3_Nonsense_Mutation_p.Q230*|SLC8A3_uc001xlx.3_Nonsense_Mutation_p.Q230*|SLC8A3_uc001xlz.3_Nonsense_Mutation_p.Q230*|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	230					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	p.Q230*(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TCCCAAACCTGGACCACACCA	0.493000														40			22		0	0	1	0	0
OR8G2	26492	broad.mit.edu	37	11	124095618	124095618	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:124095618A>C	uc010saf.2	+	0	221	c.221A>C	c.(220-222)tAt>tCt	p.Y74S		NM_001007249	NP_001007250	Q8N0Y1	Q8N0Y1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily G, member 2 (OR8G2), mRNA.	74						integral to membrane	olfactory receptor activity						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		CCCATGTACTATTTCCTCAGT	0.458000														166			118		0	0	1	0	0
PTHLH	5744	broad.mit.edu	37	12	28116513	28116513	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:28116513C>T	uc001rik.3	-	2	595	c.292G>A	c.(292-294)Gat>Aat	p.D98N	PTHLH_uc001ril.3_Missense_Mutation_p.D98N|PTHLH_uc001rim.3_Missense_Mutation_p.D98N|PTHLH_uc001rin.3_Missense_Mutation_p.D98N	NM_198966	NP_945317	P12272	PTHR_HUMAN	Homo sapiens parathyroid hormone-like hormone (PTHLH), transcript variant 4, mRNA.	98					activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation	cytoplasm|extracellular space|nucleus	hormone activity|peptide hormone receptor binding			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	10	Lung SC(9;0.184)					CCCTCATCATCAGACCCAAAT	0.527000														144			101		0	0	1	0	0
KRTAP5-10	387273	broad.mit.edu	37	11	71276950	71276950	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:71276950C>T	uc001oqt.1	+	0	342	c.317C>T	c.(316-318)tCt>tTt	p.S106F		NM_001012710	NP_001012728	Q6L8G5	KR510_HUMAN	Homo sapiens keratin associated protein 5-10 (KRTAP5-10), mRNA.	106	7 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						GGCTGTGGTTCTTGTGGGGGC	0.677000														116			103		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197446994	197446994	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:197446994G>A	uc001gtz.3	+	11	4415	c.4206G>A	c.(4204-4206)atG>atA	p.M1402I	CRB1_uc010poz.2_Missense_Mutation_p.M1378I|CRB1_uc009wza.3_Missense_Mutation_p.M1290I|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Missense_Mutation_p.M866I|CRB1_uc010ppd.2_Missense_Mutation_p.M883I	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	1402					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						CCCCTGCAATGGAGAGACTGA	0.522000														175			45		0	0	1	0	0
PGAP1	80055	broad.mit.edu	37	2	197784778	197784778	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:197784778G>A	uc002utw.3	-	1	358	c.244C>T	c.(244-246)Cct>Tct	p.P82S	PGAP1_uc002utx.3_5'UTR|PGAP1_uc002uty.1_Missense_Mutation_p.P82S|PGAP1_uc010zgv.1_Non-coding_Transcript|PGAP1_uc010fsj.2_5'UTR	NM_024989	NP_079265	Q75T13	PGAP1_HUMAN	Homo sapiens post-GPI attachment to proteins 1 (PGAP1), mRNA.	82					C-terminal protein lipidation|attachment of GPI anchor to protein|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						CCCGTCAAAGGGAGAATTTTG	0.373000														92			59		0	0	1	0	0
MCM3	4172	broad.mit.edu	37	6	52129397	52129397	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:52129397A>G	uc003pan.1	-	16	2526	c.2416T>C	c.(2416-2418)Ttc>Ctc	p.F806L	MCM3_uc011dwu.1_Missense_Mutation_p.F760L	NM_002388	NP_002379	P25205	MCM3_HUMAN	Homo sapiens minichromosome maintenance complex component 3 (MCM3), mRNA.	806					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex|alpha DNA polymerase:primase complex|centrosome|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					CAGATGAGGAAGATGATGCCC	0.537000														175			73		0	0	1	0	0
ACSM3	6296	broad.mit.edu	37	16	20803563	20803563	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr16:20803563G>A	uc010vba.2	+	11	1622	c.1547G>A	c.(1546-1548)cGa>cAa	p.R516Q	ACSM3_uc002dhr.3_Missense_Mutation_p.R487Q|ERI2_uc002dhs.3_Intron	NM_005622	NP_005613	Q53FZ2	ACSM3_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 3 (ACSM3), transcript variant 1, mRNA.	487					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						TCTAGCTATCGAATTGGACCA	0.448000														368			252		0	0	1	0	0
LOC440563	440563	broad.mit.edu	37	1	13183493	13183493	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:13183493G>A	uc010obg.2	-	1	623	c.380C>T	c.(379-381)cCa>cTa	p.P127L		NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA.	127						ribonucleoprotein complex	nucleic acid binding|nucleotide binding										TACACGTGCTGGGAAACTGTA	0.522000														179			14		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183600827	183600827	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr4:183600827C>T	uc003ivd.1	+	6	1410	c.1335C>T	c.(1333-1335)ttC>ttT	p.F445F	ODZ3_uc003ive.1_5'Flank	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	445					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		AGTATGACTTCGTGGAGCTCC	0.532000														88			61		0	0	1	0	0
CCDC22	28952	broad.mit.edu	37	X	49099919	49099919	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:49099919C>T	uc004dnd.2	+	5	875	c.705C>T	c.(703-705)ctC>ctT	p.L235L	CCDC22_uc011mna.2_Silent_p.L235L	NM_014008	NP_054727	O60826	CCD22_HUMAN	Homo sapiens coiled-coil domain containing 22 (CCDC22), mRNA.	235										NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						CATCCCGCCTCCCACCCCAGG	0.677000														14			14		0	0	1	0	0
APBB1IP	54518	broad.mit.edu	37	10	26802584	26802584	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr10:26802584C>T	uc001iss.3	+	7	1129	c.808C>T	c.(808-810)Ccc>Tcc	p.P270S	APBB1IP_uc009xks.1_Missense_Mutation_p.P270S	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein (APBB1IP), mRNA.	270					blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						ATTTAAAAACCCCCAGGTAAG	0.348000														83			42		0	0	1	0	0
DTX2	113878	broad.mit.edu	37	7	76111877	76111877	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:76111877C>T	uc011kgk.1	+	2	400	c.48C>T	c.(46-48)ggC>ggT	p.G16G	DTX2_uc003uff.4_Silent_p.G107G|DTX2_uc003ufg.4_Silent_p.G107G|DTX2_uc003ufh.4_Silent_p.G107G|DTX2_uc003ufj.4_Silent_p.G107G	NM_020892	NP_065943	Q86UW9	DTX2_HUMAN	Homo sapiens deltex homolog 2 (Drosophila) (DTX2), transcript variant 1, mRNA.	107	WWE 1.				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						CAGCCCCTGGCCGAGGTGTCG	0.587000														59			62		0	0	1	0	0
MAML3	55534	broad.mit.edu	37	4	140810971	140810971	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr4:140810971G>A	uc021xsg.1	-	1	2371	c.1619C>T	c.(1618-1620)cCa>cTa	p.P540L	MAML3_uc011chd.1_Intron	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	Homo sapiens mastermind-like 3 (Drosophila) (MAML3), mRNA.	536	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					GTACATCATTGGGCTATTTGG	0.448000														317			189		0	0	1	0	0
SLC24A3	57419	broad.mit.edu	37	20	19662553	19662553	+	Silent	SNP	G	A	A	rs35797096		TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr20:19662553G>A	uc002wrl.3	+	9	1016	c.819G>A	c.(817-819)ggG>ggA	p.G273G		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.	273						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						AAGGTGCCGGGAACATGGTCA	0.483000														84			55		0	0	1	0	0
PTGFR	5737	broad.mit.edu	37	1	78958681	78958681	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:78958681G>A	uc001din.3	+	1	519	c.253G>A	c.(253-255)Gga>Aga	p.G85R	PTGFR_uc001dim.3_Missense_Mutation_p.G85R	NM_000959	NP_000950	P43088	PF2R_HUMAN	Homo sapiens prostaglandin F receptor (FP) (PTGFR), transcript variant 1, mRNA.	85					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	TCTCATCAATGGAGCCATAGC	0.413000														131			84		0	0	1	0	0
FEZF1	389549	broad.mit.edu	37	7	121944267	121944267	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:121944267G>A	uc003vkd.3	-	0	299	c.225C>T	c.(223-225)atC>atT	p.I75I	FEZF1_uc003vkc.3_Silent_p.I75I|LOC154860_uc010lko.2_Non-coding_Transcript	NM_001024613	NP_001019784	A0PJY2	FEZF1_HUMAN	Homo sapiens FEZ family zinc finger 1 (FEZF1), transcript variant 1, mRNA.	75					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						GCACGAAGGGGATCATGCAGG	0.687000														13			53		0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3208638	3208638	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr4:3208638C>T	uc021xkv.1	+	43	6148	c.6003C>T	c.(6001-6003)ttC>ttT	p.F2001F		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	2001					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GCACCCCTTTCCGTGTGCTGG	0.527000														64			39		0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119866561	119866561	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:119866561G>A	uc001txe.3	+	1	629	c.164G>A	c.(163-165)cGa>cAa	p.R55Q	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	55										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GACCTTATACGAAGCCGGTGA	0.478000														16			10		0	0	1	0	0
SH2D4A	63898	broad.mit.edu	37	8	19192312	19192312	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr8:19192312G>A	uc003wzc.3	+	3	765	c.457G>A	c.(457-459)Gag>Aag	p.E153K	SH2D4A_uc003wzb.3_Missense_Mutation_p.E153K|SH2D4A_uc011kym.2_Missense_Mutation_p.E108K	NM_001174159	NP_071354	Q9H788	SH24A_HUMAN	Homo sapiens SH2 domain containing 4A (SH2D4A), transcript variant 2, mRNA.	153						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		GGCAGAAAAGGAGGAACTGGA	0.473000														13			43		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110477210	110477210	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr8:110477210G>A	uc003yne.3	+	48	8253	c.8149G>A	c.(8149-8151)Gga>Aga	p.G2717R		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2717					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)			TGATGAACTGGGAATGGGGTC	0.473000										HNSCC(38;0.096)				212			68		0	0	1	0	0
RNF103	7844	broad.mit.edu	37	2	86831436	86831436	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:86831436C>T	uc002srn.3	-	3	2579	c.1588G>A	c.(1588-1590)Gag>Aag	p.E530K	RNF103_uc010ytl.2_Intron|RNF103_uc002srm.3_Missense_Mutation_p.E391K|RNF103_uc021vkg.1_Missense_Mutation_p.E526K|BC066991_uc002sro.3_Non-coding_Transcript	NM_005667	NP_005658	O00237	RN103_HUMAN	Homo sapiens ring finger protein 103 (RNF103), transcript variant 1, mRNA.	530					ER-associated protein catabolic process|central nervous system development	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						TGAGACCCCTCCGACATTTCC	0.403000														251			180		0	0	1	0	0
ZNF667	63934	broad.mit.edu	37	19	56969613	56969613	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:56969613A>T	uc002qne.3	-	5	955	c.164T>A	c.(163-165)cTt>cAt	p.L55H	ZNF667_uc010etl.3_5'UTR|ZNF667_uc002qnd.3_Missense_Mutation_p.L55H|ZNF667_uc010etm.3_5'UTR	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	Homo sapiens zinc finger protein 667 (ZNF667), transcript variant 1, mRNA.	55	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		CCGAAAGGAAAGACCTGTACG	0.498000														51			37		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181690986	181690986	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:181690986C>T	uc009wxt.3	+	15	2244	c.2049C>T	c.(2047-2049)ttC>ttT	p.F683F	CACNA1E_uc001gow.3_Silent_p.F683F|CACNA1E_uc009wxs.3_Silent_p.F683F	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	683					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						CCATCTACTTCATTGTGCTCA	0.522000														185			104		0	0	1	0	0
PEAR1	375033	broad.mit.edu	37	1	156874633	156874633	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:156874633C>T	uc001fqj.1	+	2	311	c.195C>T	c.(193-195)tgC>tgT	p.C65C	PEAR1_uc009wsl.1_5'Flank|PEAR1_uc001fqk.1_5'Flank	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN	Homo sapiens platelet endothelial aggregation receptor 1 (PEAR1), mRNA.	65	EMI.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCCATACTTGCCCCCAGCCCA	0.657000														41			36		0	0	1	0	0
SLC19A3	80704	broad.mit.edu	37	2	228563864	228563864	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:228563864G>A	uc002vpi.3	-	2	656	c.567C>T	c.(565-567)ttC>ttT	p.F189F	SLC19A3_uc002vpj.3_Non-coding_Transcript|SLC19A3_uc010zlv.1_Silent_p.F185F	NM_025243	NP_079519	Q9BZV2	S19A3_HUMAN	Homo sapiens solute carrier family 19, member 3 (SLC19A3), mRNA.	189					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	GCATTGGTAGGAAAAGTGAGA	0.443000														62			42		0	0	1	0	0
NEXN	91624	broad.mit.edu	37	1	78408167	78408167	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:78408167G>A	uc001dic.4	+	12	1978	c.1681G>A	c.(1681-1683)Gaa>Aaa	p.E561K	NEXN_uc001dib.4_Missense_Mutation_p.E497K|NEXN_uc001did.1_Missense_Mutation_p.E471K|NEXN_uc001dif.1_Missense_Mutation_p.E453K|NEXN_uc001dig.4_Missense_Mutation_p.E202K	NM_144573	NP_653174	Q0ZGT2	NEXN_HUMAN	Homo sapiens nexilin (F actin binding protein) (NEXN), transcript variant 1, mRNA.	561	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	Z disc|cytoskeleton	actin filament binding|structural constituent of muscle	p.E560E(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		GGAGGAGGAGGAAGAAGGTAG	0.388000														66			23		0	0	1	0	0
GNL3L	54552	broad.mit.edu	37	X	54569418	54569418	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:54569418C>T	uc022bxi.1	+	5	593	c.337C>T	c.(337-339)Cct>Tct	p.P113S	GNL3L_uc004dti.3_Non-coding_Transcript|GNL3L_uc004dth.2_Missense_Mutation_p.P113S	NM_001184819	NP_061940	Q9NVN8	GNL3L_HUMAN	Homo sapiens guanine nucleotide binding protein-like 3 (nucleolar)-like (GNL3L), transcript variant 1, mRNA.	113					ribosome biogenesis	nucleolus	GTP binding			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						AAATATGTTTCCTCAGCTGGA	0.488000														36			33		0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	66986991	66986991	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:66986991C>T	uc002jhu.3	-	28	3967	c.3824G>A	c.(3823-3825)cGa>cAa	p.R1275Q	ABCA9_uc010dez.3_Missense_Mutation_p.R1237Q	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.	1275					transport	integral to membrane	ATP binding|ATPase activity	p.R1275*(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					ATCAAAGTCTCGCACAGCCAT	0.388000														62			45		0	0	1	0	0
SAMD7	344658	broad.mit.edu	37	3	169656114	169656114	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:169656114G>A	uc003fgd.3	+	8	1428	c.1161G>A	c.(1159-1161)caG>caA	p.Q387Q	SAMD7_uc003fge.3_Silent_p.Q387Q|SAMD7_uc011bpo.2_Silent_p.Q288Q	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA.	387	SAM.									NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			AGGTATCTCAGCATGTGGGAA	0.338000														79			46		0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	28877367	28877367	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr13:28877367G>A	uc001usb.3	-	29	4239	c.3954C>T	c.(3952-3954)atC>atT	p.I1318I	FLT1_uc010aap.2_Silent_p.I323I|FLT1_uc010aaq.2_Silent_p.I443I|FLT1_uc001usa.3_Silent_p.I536I	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	1318					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	AGCAGCACGCGATTTTCCTTT	0.567000														93			79		0	0	1	0	0
TRMT1L	81627	broad.mit.edu	37	1	185109117	185109117	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:185109117G>A	uc001grf.4	-	7	1369	c.1097C>T	c.(1096-1098)tCt>tTt	p.S366F	TRMT1L_uc010pon.2_Missense_Mutation_p.S210F	NM_030934	NP_001189352	Q7Z2T5	TRM1L_HUMAN	Homo sapiens TRM1 tRNA methyltransferase 1-like (TRMT1L), transcript variant 1, mRNA.	366						intracellular	RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						GAAATCAAAAGATCTCAAATG	0.333000														76			33		0	0	1	0	0
OR10K1	391109	broad.mit.edu	37	1	158436035	158436035	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:158436035C>T	uc010pij.2	+	0	684	c.684C>T	c.(682-684)atC>atT	p.I228I		NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 1 (OR10K1), mRNA.	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TTCTAAAAATCCCTTCCTCCG	0.458000														75			54		0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17068707	17068707	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:17068707C>T	uc002nfb.3	-	18	2405	c.2373G>A	c.(2371-2373)agG>agA	p.R791R		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	744						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						GGAAGAAAGTCCTTTTTCTCT	0.363000														185			124		0	0	1	0	0
BCR	613	broad.mit.edu	37	22	23654022	23654022	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr22:23654022C>T	uc002zww.3	+	19	3918	c.3322_splice	c.e19+1	p.N1108_splice	BCR_uc002zwx.3_Splice_Site_p.N1064_splice|BCR_uc011aiy.2_Splice_Site_p.N697_splice	NM_004327	NP_004318	P11274	BCR_HUMAN	Homo sapiens breakpoint cluster region (BCR), transcript variant 1, mRNA.	1108	Rho-GAP.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						CCTTCGACGTCAGTGAGTGTT	0.627000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""									14			131		0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179564869	179564869	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:179564869G>A	uc010pnp.2	+	3	1265	c.747G>A	c.(745-747)ccG>ccA	p.P249P	TDRD5_uc021pfm.1_Silent_p.P249P|TDRD5_uc001gnf.2_Silent_p.P249P|TDRD5_uc021pfn.1_Silent_p.P249P	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	249					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						TGGAACCACCGAAGCAAATAA	0.398000														89			63		0	0	1	0	0
FAM117B	150864	broad.mit.edu	37	2	203620295	203620295	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:203620295T>G	uc010zhx.2	+	4	1005	c.995T>G	c.(994-996)aTt>aGt	p.I332S		NM_173511	NP_775782	Q6P1L5	F117B_HUMAN	Homo sapiens family with sequence similarity 117, member B (FAM117B), mRNA.	332										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						ATTCCTGTAATTCCCATCACC	0.413000														126			82		0	0	1	0	0
GIT2	9815	broad.mit.edu	37	12	110426821	110426821	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:110426821G>T	uc001tps.2	-	3	517	c.352C>A	c.(352-354)Cat>Aat	p.H118N	GIT2_uc001tpq.2_Missense_Mutation_p.H118N|GIT2_uc001tpv.2_Missense_Mutation_p.H118N|GIT2_uc001tpu.2_Missense_Mutation_p.H118N|GIT2_uc001tpt.2_Missense_Mutation_p.H118N|GIT2_uc010sxu.1_Missense_Mutation_p.H56N|GIT2_uc001tpw.3_Missense_Mutation_p.H118N|GIT2_uc010sxv.1_Missense_Mutation_p.H118N	NM_057169	NP_476510	Q14161	GIT2_HUMAN	Homo sapiens G protein-coupled receptor kinase interacting ArfGAP 2 (GIT2), transcript variant 1, mRNA.	118	Arf-GAP.				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						GGCAAGCGATGGACGAACGCT	0.453000														311			10		0.0135373	0.0135498	1	1	0
DSG1	1828	broad.mit.edu	37	18	28916455	28916455	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr18:28916455G>A	uc002kwp.3	+	8	1356	c.1144G>A	c.(1144-1146)Ggc>Agc	p.G382S		NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	382	Cadherin 3.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TGTAATTGAAGGCCCAGTGTT	0.368000														49			39		0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30935544	30935544	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:30935544T>C	uc002nsu.1	+	1	1213	c.1075T>C	c.(1075-1077)Ttc>Ctc	p.F359L	ZNF536_uc010edd.1_Missense_Mutation_p.F359L	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	359					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCAGGCGTGGTTCCTCAAGGG	0.647000														188			113		0	0	1	0	0
ATP6V0A1	535	broad.mit.edu	37	17	40639207	40639207	+	Missense_Mutation	SNP	T	C	C	rs111886720		TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:40639207T>C	uc002hzs.3	+	9	1033	c.866T>C	c.(865-867)gTt>gCt	p.V289A	ATP6V0A1_uc002hzr.3_Missense_Mutation_p.V282A|ATP6V0A1_uc002hzq.3_Missense_Mutation_p.V282A|ATP6V0A1_uc010wgj.2_Missense_Mutation_p.V239A|ATP6V0A1_uc010wgk.2_Missense_Mutation_p.V239A|ATP6V0A1_uc010cyg.3_Intron|ATP6V0A1_uc010wgl.2_Missense_Mutation_p.V141A	NM_001130020	NP_001123492	Q93050	VPP1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a1 (ATP6V0A1), transcript variant 1, mRNA.	282					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	Golgi apparatus|cytoplasmic vesicle membrane|endosome membrane|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		CGCCAGAGGGTTCTGCAGGCA	0.478000														116			95		0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21169800	21169800	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr10:21169800C>T	uc001iqi.3	-	4	800	c.403G>A	c.(403-405)Gga>Aga	p.G135R	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	135				KHDAAKGFSD -> NMMLPRILS (in Ref. 2; AAF24858).	regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TCTGAGAATCCTTTGGCAGCA	0.413000														69			52		0	0	1	0	0
CYP4A11	1579	broad.mit.edu	37	1	47395831	47395831	+	Missense_Mutation	SNP	G	A	A	rs58897090		TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:47395831G>A	uc001cqp.4	-	11	1567	c.1516C>T	c.(1516-1518)Ctc>Ttc	p.L506F		NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	506			NGIHLRLRRLPNPCEDKDQL -> MESTCVSGGSLTLVKTR TSFEGLHLPSCLPDPRFCPLPVCPYPVFCLPTFPSSHLPAV PQSACPSLSHLSPGLPTCLSTCLLPTCISCWEKS (in CYP4A11V).		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)	AGCCTCCTGAGACGCAGGTGG	0.577000														86			8		0	0	1	0	0
THPO	7066	broad.mit.edu	37	3	184090587	184090588	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:184090587_184090588CC>TT	uc003fol.1	-	5	990_991	c.775_776GG>AA	c.(775-777)gga>AAa	p.G259K	THPO_uc003fom.2_Missense_Mutation_p.G255K|THPO_uc021xii.1_Nonsense_Mutation_p.W253*|THPO_uc003fon.3_Nonsense_Mutation_p.W220*|THPO_uc011bro.2_Intron|THPO_uc003fop.3_Nonsense_Mutation_p.W216*|THPO_uc011brp.2_Intron|THPO_uc011brq.2_Nonsense_Mutation_p.W180*	NM_000460	NP_000451	P40225	TPO_HUMAN	Homo sapiens thrombopoietin (THPO), transcript variant 1, mRNA.	259					cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGGAAAGAGTCCACGAGTTCCA	0.559000														132			82		0	0	1	0	0
CDK8	1024	broad.mit.edu	37	13	26923281	26923281	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr13:26923281G>C	uc001uqr.1	+	2	300	c.277G>C	c.(277-279)Gtg>Ctg	p.V93L	CDK8_uc001uqs.1_Missense_Mutation_p.V93L|CDK8_uc001uqt.1_5'UTR	NM_001260	NP_001251	P49336	CDK8_HUMAN	Homo sapiens cyclin-dependent kinase 8 (CDK8), mRNA.	93	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		TGATAGGAAGGTGTGGCTTCT	0.413000														205			85		0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42058862	42058862	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr15:42058862G>A	uc010ucy.2	+	23	8763	c.8582G>A	c.(8581-8583)cGg>cAg	p.R2861Q	MGA_uc010ucz.2_Missense_Mutation_p.R2652Q	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	2822						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		GATGCTCGGCGGGCTTTTATT	0.468000														92			82		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26422418	26422418	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr22:26422418G>A	uc003abz.1	+	42	6728	c.6478G>A	c.(6478-6480)Gaa>Aaa	p.E2160K	MYO18B_uc003aca.1_Missense_Mutation_p.E2041K|MYO18B_uc010guy.1_Missense_Mutation_p.E2042K|MYO18B_uc010guz.1_Missense_Mutation_p.E2040K|MYO18B_uc011aka.1_Missense_Mutation_p.E1314K|MYO18B_uc011akb.1_Missense_Mutation_p.E1673K|MYO18B_uc010gva.1_Missense_Mutation_p.E143K|MYO18B_uc010gvb.1_Non-coding_Transcript	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2160						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						CAGGATAAACGAAGAGGCTGG	0.502000														33			261		0	0	1	0	0
SLC27A2	11001	broad.mit.edu	37	15	50521197	50521197	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr15:50521197G>A	uc001zxw.3	+	7	1745	c.1513G>A	c.(1513-1515)Gat>Aat	p.D505N	SLC27A2_uc010bes.3_Missense_Mutation_p.D452N|SLC27A2_uc001zxx.3_Missense_Mutation_p.D270N	NM_003645	NP_003636	O14975	S27A2_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 2 (SLC27A2), transcript variant 1, mRNA.	505					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		TGGACTGGTTGATTTTGTCCA	0.428000														28			38		0	0	1	0	0
SCNN1B	6338	broad.mit.edu	37	16	23364224	23364224	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr16:23364224G>A	uc002dln.3	+	2	590	c.414G>A	c.(412-414)agG>agA	p.R138R		NM_000336	NP_000327	P51168	SCNNB_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, beta (SCNN1B), mRNA.	138					excretion|sensory perception of taste	apical plasma membrane	WW domain binding|ligand-gated sodium channel activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	ATGCCACCAGGAACCTGAACT	0.517000														92			58		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11757633	11757633	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:11757633G>A	uc002gne.3	+	49	9889	c.9821G>A	c.(9820-9822)aGa>aAa	p.R3274K	DNAH9_uc010coo.3_Missense_Mutation_p.R2568K	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	3274	Stalk (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AATATTGTGAGATTTTATGAG	0.542000														130			64		0	0	1	0	0
GAA	2548	broad.mit.edu	37	17	78082287	78082287	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:78082287G>A	uc002jxp.3	+	7	1443	c.1076_splice	c.e7-1	p.G359_splice	GAA_uc002jxo.3_Splice_Site_p.G359_splice|GAA_uc002jxq.3_Splice_Site_p.G359_splice	NM_000152	NP_001073272	P10253	LYAG_HUMAN	Homo sapiens glucosidase, alpha; acid (GAA), transcript variant 1, mRNA.	359					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	TTGGCCTGCAGGATACCCGTT	0.672000														24			22		0	0	1	0	0
CCDC62	84660	broad.mit.edu	37	12	123273331	123273331	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:123273331T>G	uc001udc.3	+	4	687	c.525T>G	c.(523-525)aaT>aaG	p.N175K	CCDC62_uc010tah.2_Non-coding_Transcript|CCDC62_uc001ude.3_Intron|CCDC62_uc021rfn.1_5'UTR	NM_201435	NP_958843	Q6P9F0	CCD62_HUMAN	Homo sapiens coiled-coil domain containing 62 (CCDC62), transcript variant 2, mRNA.	175						cytoplasm|nucleus				breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		AGGCAGTTAATCACATTGCAG	0.333000														81			51		0	0	1	0	0
PLA2G6	8398	broad.mit.edu	37	22	38536042	38536042	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr22:38536042G>A	uc003auy.1	-	4	880	c.744C>T	c.(742-744)atC>atT	p.I248I	PLA2G6_uc003auz.1_Silent_p.I248I|PLA2G6_uc003ava.1_Silent_p.I248I|PLA2G6_uc003avb.2_Silent_p.I248I|PLA2G6_uc010gxk.1_Non-coding_Transcript|PLA2G6_uc011ano.1_Intron	NM_003560	NP_003551	O60733	PA2G6_HUMAN	Homo sapiens phospholipase A2, group VI (cytosolic, calcium-independent) (PLA2G6), transcript variant 1, mRNA.	248					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	TGGGGCCCATGATGTTGCACC	0.627000														11			31		0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70527628	70527628	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:70527628C>T	uc001xly.3	-	2	2567	c.1813G>A	c.(1813-1815)Gag>Aag	p.E605K	SLC8A3_uc001xlv.3_5'UTR|SLC8A3_uc001xlu.3_Intron|SLC8A3_uc001xlw.3_Missense_Mutation_p.E605K|SLC8A3_uc001xlx.3_Intron|SLC8A3_uc001xlz.3_Missense_Mutation_p.E605K|SLC8A3_uc010ara.3_Intron|SLC8A3_uc001xma.2_Intron	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	605	Calx-beta 2.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TATTCCTCCTCATCTACTATT	0.438000														56			43		0	0	1	0	0
GSTM1	2944	broad.mit.edu	37	1	110230843	110230843	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:110230843G>A	uc001dyk.3	+	1	166	c.88G>A	c.(88-90)Gaa>Aaa	p.E30K	GSTM1_uc001dyl.3_Missense_Mutation_p.E30K	NM_000561	NP_000552	P09488	GSTM1_HUMAN	Homo sapiens glutathione S-transferase mu 1 (GSTM1), transcript variant 1, mRNA.	30	GST N-terminal.				xenobiotic metabolic process	cytosol	glutathione transferase activity			endometrium(1)|lung(1)|ovary(1)	3		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	AAGCTATGAGGAAAAGAAGTA	0.602000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia					201			149		0	0	1	0	0
OR1J2	26740	broad.mit.edu	37	9	125273445	125273445	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr9:125273445G>A	uc011lyv.2	+	0	365	c.365G>A	c.(364-366)cGa>cAa	p.R122Q	OR1J2_uc004bmj.2_Missense_Mutation_p.R122Q	NM_054107	NP_473448	Q8NGS2	OR1J2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 2 (OR1J2), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R122L(2)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						GCATATGACCGATATGTTGCC	0.408000														11			34		0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47776895	47776895	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr21:47776895C>T	uc002zji.4	+	12	2050	c.1943C>T	c.(1942-1944)cCc>cTc	p.P648L	PCNT_uc002zjj.3_Missense_Mutation_p.P530L	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	648	Glu-rich.				G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					ACAGAGCTTCCCTGGGTGCAT	0.607000														82			67		0	0	1	0	0
OR4K5	79317	broad.mit.edu	37	14	20389635	20389635	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:20389635G>A	uc010tkw.2	+	0	870	c.870G>A	c.(868-870)agG>agA	p.R290R		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATACACTAAGGAATAGGGATA	0.398000														174			65		0	0	1	0	0
ZFP112	7771	broad.mit.edu	37	19	44831935	44831935	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:44831935A>G	uc010xwy.2	-	4	2562	c.2444T>C	c.(2443-2445)gTt>gCt	p.V815A	ZFP112_uc010ejj.3_Missense_Mutation_p.V798A|ZFP112_uc002ozc.4_Missense_Mutation_p.V792A|ZFP112_uc010xwz.2_Missense_Mutation_p.V797A	NM_013380	NP_037512	Q9UJU3	ZF112_HUMAN	Homo sapiens zinc finger protein 112 homolog (mouse) (ZFP112), transcript variant 2, mRNA.	798					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(1)|lung(8)|ovary(3)|prostate(4)|skin(3)	41						TTCCACATGAACCCTTTGGTG	0.478000														120			89		0	0	1	0	0
MAGEA5	4104	broad.mit.edu	37	X	151283787	151283787	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:151283787C>T	uc004ffj.3	-	2	398	c.226G>A	c.(226-228)Gat>Aat	p.D76N	MAGEA5_uc022cgy.1_Missense_Mutation_p.D76N	NM_021049	NP_066387	P43359	MAGA5_HUMAN	Homo sapiens melanoma antigen family A, 5 (MAGEA5), mRNA.	76	MAGE.							p.D76N(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGTGAAATCGATGGCAGTG	0.612000														108			70		0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	10973718	10973718	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:10973718C>T	uc003jfa.1	-	21	3670	c.3525G>A	c.(3523-3525)caG>caA	p.Q1175Q	CTNND2_uc010itt.2_Silent_p.Q1084Q|CTNND2_uc011cmy.1_Silent_p.Q838Q|CTNND2_uc011cmz.1_Silent_p.Q742Q|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Silent_p.Q767Q	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	1175					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GATGGTGGACCTGGTCCTCGA	0.552000														88			73		0	0	1	0	0
CKAP5	9793	broad.mit.edu	37	11	46784672	46784672	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:46784672G>A	uc001ndi.2	-	29	3871	c.3745C>T	c.(3745-3747)Ctt>Ttt	p.L1249F	CKAP5_uc009ylg.1_Missense_Mutation_p.L1135F|CKAP5_uc001ndj.2_Missense_Mutation_p.L1249F|CKAP5_uc001ndh.1_Missense_Mutation_p.L178F|SNORD67_uc001ndk.3_5'Flank	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	Homo sapiens cytoskeleton associated protein 5 (CKAP5), transcript variant 1, mRNA.	1249					G2/M transition of mitotic cell cycle|RNA transport|cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|mitotic prometaphase|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						CTCAGGGTAAGCCACTTTAAG	0.348000														144			105		0	0	1	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77912768	77912768	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:77912768C>T	uc022bzi.1	-	0	1150	c.1150G>A	c.(1150-1152)Gat>Aat	p.D384N	ZCCHC5_uc004edc.1_Missense_Mutation_p.D384N	NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN	Homo sapiens zinc finger, CCHC domain containing 5 (ZCCHC5), mRNA.	384							nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						GTGATGAGATCAGATAGGTTG	0.498000														107			82		0	0	1	0	0
FBLN1	2192	broad.mit.edu	37	22	45959038	45959038	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr22:45959038C>T	uc010gzz.3	+	15	2205	c.2058C>T	c.(2056-2058)gtC>gtT	p.V686V	FBLN1_uc003bgh.3_Silent_p.V648V|FBLN1_uc003bgi.1_Intron|FBLN1_uc003bgj.1_Intron	NM_001996	NP_001987	P23142	FBLN1_HUMAN	Homo sapiens fibulin 1 (FBLN1), transcript variant C, mRNA.	666					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CCAAGCCTGTCCCCGAGCCCA	0.612000														12			106		0	0	1	0	0
CEACAM18	729767	broad.mit.edu	37	19	51986533	51986533	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:51986533G>A	uc002pwv.1	+	4	1119	c.1119G>A	c.(1117-1119)agG>agA	p.R373R		NM_001080405	NP_001073874	A8MTB9	CEA18_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 18 (CEACAM18), mRNA.	373	Ig-like C2-type.					integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TGGACGTCAGGATCCAGGCCC	0.597000														56			36		0	0	1	0	0
NCEH1	57552	broad.mit.edu	37	3	172353768	172353768	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:172353768C>T	uc011bpx.2	-	3	805	c.667G>A	c.(667-669)Ggc>Agc	p.G223S	NCEH1_uc003fig.3_Missense_Mutation_p.G215S|NCEH1_uc011bpw.2_Missense_Mutation_p.G50S|NCEH1_uc011bpy.2_Missense_Mutation_p.G50S	NM_001146276	NP_001139750	Q6PIU2	NCEH1_HUMAN	Homo sapiens neutral cholesterol ester hydrolase 1 (NCEH1), transcript variant 1, mRNA.	183					lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						CAAATTCTGCCTGGATCAACC	0.463000														141			109		0	0	1	0	0
FMO4	2329	broad.mit.edu	37	1	171293297	171293297	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:171293297G>A	uc001gho.3	+	4	559	c.342G>A	c.(340-342)acG>acA	p.T114T		NM_002022	NP_002013	P31512	FMO4_HUMAN	Homo sapiens flavin containing monooxygenase 4 (FMO4), mRNA.	114					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	p.T114M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					GCAGCATAACGAAGCGTCCAG	0.468000														203			147		0	0	1	0	0
PHLPP2	23035	broad.mit.edu	37	16	71710379	71710379	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr16:71710379G>A	uc002fax.3	-	7	1448	c.1442C>T	c.(1441-1443)tCc>tTc	p.S481F	PHLPP2_uc002fav.3_Non-coding_Transcript|PHLPP2_uc010cgf.3_Missense_Mutation_p.S481F	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	Homo sapiens PH domain and leucine rich repeat protein phosphatase 2 (PHLPP2), mRNA.	481						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						GGTCCGAAGGGAAAAGCCACT	0.498000														50			35		0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10300158	10300158	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:10300158A>C	uc002gmm.2	-	30	4419	c.4324T>G	c.(4324-4326)Tgt>Ggt	p.C1442G	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1442					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						AGGGCTGCACAGGCTGCATTA	0.468000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					63			37		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9076887	9076887	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:9076887G>A	uc002mkp.3	-	2	10763	c.10559C>T	c.(10558-10560)tCa>tTa	p.S3520L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3521	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						CGCAGGAGATGAAGTCTGAGA	0.507000														190			91		0	0	1	0	0
TNFSF10	8743	broad.mit.edu	37	3	172232732	172232732	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:172232732A>C	uc003fid.3	-	1	312	c.189T>G	c.(187-189)agT>agG	p.S63R	TNFSF10_uc021xhk.1_Non-coding_Transcript|TNFSF10_uc003fie.3_Missense_Mutation_p.S63R	NM_003810	NP_003801	P50591	TNF10_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 10 (TNFSF10), transcript variant 1, mRNA.	63					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			GGTCCCAATAACTGTCATCTT	0.443000														121			91		0	0	1	0	0
NSRP1	84081	broad.mit.edu	37	17	28511789	28511789	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:28511789T>G	uc002heu.3	+	6	802	c.774T>G	c.(772-774)gaT>gaG	p.D258E	NSRP1_uc002hev.3_Missense_Mutation_p.D204E|NSRP1_uc010wbl.2_Missense_Mutation_p.D204E|NSRP1_uc010wbm.2_Missense_Mutation_p.D204E|NSRP1_uc002hex.3_Missense_Mutation_p.D204E	NM_032141	NP_115517	Q9H0G5	NSRP1_HUMAN	Homo sapiens nuclear speckle splicing regulatory protein 1 (NSRP1), transcript variant 1, mRNA.	258					developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome	nuclear speck|ribonucleoprotein complex	mRNA binding|protein binding			autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						GTGCGGATGATGAAATAGAAG	0.443000														32			28		0	0	1	0	0
RPL23AP53	644128	broad.mit.edu	37	8	163215	163215	+	RNA	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr8:163215G>A	uc010lra.3	-	3		c.918C>T			RPL23AP53_uc003woq.4_Non-coding_Transcript|RPL23AP53_uc010lrb.3_Non-coding_Transcript					Homo sapiens ribosomal protein L23a pseudogene 53 (RPL23AP53), non-coding RNA.																		AGATACACATGTATTTAGAGT	0.323000														26			4		0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106982971	106982971	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr10:106982971C>T	uc001kyi.1	+	19	3059	c.2832C>T	c.(2830-2832)acC>acT	p.T944T	SORCS3_uc010qqz.1_Non-coding_Transcript	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	944						integral to membrane	neuropeptide receptor activity	p.G943G(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AACTGGGGACCCTTACCTATT	0.458000														42			142		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140772810	140772810	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:140772810G>A	uc003lkd.2	+	0	1328	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	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.E144K|PCDHGC5_uc003lkc.2_Intron	NM_032088	NP_114477	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 8 (PCDHGA8), transcript variant 1, mRNA.	144	Cadherin 2.				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)			AAAAATTAACGAAATCGCGGT	0.443000														65			41		0	0	1	0	0
NISCH	11188	broad.mit.edu	37	3	52521917	52521917	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:52521917C>T	uc003ded.4	+	15	2543	c.2409C>T	c.(2407-2409)ttC>ttT	p.F803F	NISCH_uc003dee.4_Silent_p.F292F|NISCH_uc003deg.1_Non-coding_Transcript	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	Homo sapiens nischarin (NISCH), mRNA.	803	Interaction with ITGA5 (By similarity).|Interaction with LIMK (By similarity).|Interaction with PAK1 (By similarity).				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		TGCACGAGTTCCACGCGGACC	0.607000														6			35		0	0	1	0	0
FOXP2	93986	broad.mit.edu	37	7	114270030	114270030	+	Silent	SNP	G	A	A	rs138037147		TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:114270030G>A	uc003vhb.3	+	4	941	c.567G>A	c.(565-567)caG>caA	p.Q189Q	FOXP2_uc003vgu.3_Non-coding_Transcript|FOXP2_uc003vgz.3_Silent_p.Q214Q|FOXP2_uc003vha.3_Silent_p.Q97Q|FOXP2_uc011kmv.2_Silent_p.Q189Q|FOXP2_uc011kmu.2_Silent_p.Q206Q|FOXP2_uc010ljz.2_Silent_p.Q97Q|FOXP2_uc003vgt.2_Non-coding_Transcript|FOXP2_uc003vgv.1_Silent_p.Q189Q|FOXP2_uc003vgx.2_Silent_p.Q189Q|FOXP2_uc003vhc.3_Silent_p.Q214Q|FOXP2_uc003vhd.3_Silent_p.Q189Q	NM_014491	NP_055306	O15409	FOXP2_HUMAN	Homo sapiens forkhead box P2 (FOXP2), transcript variant 1, mRNA.	189	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcagcagcagcaacagcaTC	0.493000														62			3		0	0	1	0	0
SLC14A1	6563	broad.mit.edu	37	18	43310340	43310340	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr18:43310340G>A	uc010dnk.3	+	3	445	c.223G>A	c.(223-225)Gaa>Aaa	p.E75K	SLC14A1_uc002lbi.4_Intron|SLC14A1_uc010xcn.2_Missense_Mutation_p.E19K|SLC14A1_uc002lbf.4_Missense_Mutation_p.E19K|SLC14A1_uc002lbg.4_Non-coding_Transcript|SLC14A1_uc010xco.2_Intron|SLC14A1_uc002lbh.4_Intron|SLC14A1_uc002lbj.4_Missense_Mutation_p.E75K|SLC14A1_uc002lbk.4_Missense_Mutation_p.E19K|SLC14A1_uc021ujg.1_Missense_Mutation_p.E19K	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.	19						integral to plasma membrane	urea transmembrane transporter activity	p.P75P(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						GGTTAGGGGTGAAAACCAGGT	0.507000														71			53		0	0	1	0	0
C8A	731	broad.mit.edu	37	1	57351711	57351711	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:57351711G>A	uc001cyo.2	+	6	1099	c.967G>A	c.(967-969)Gat>Aat	p.D323N		NM_000562	NP_000553	P07357	CO8A_HUMAN	Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.	323	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		p.P322P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GGAGCTTCCAGATCAGTACAA	0.413000														87			51		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40411993	40411993	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:40411993G>A	uc002omp.4	-	6	3643	c.3635C>T	c.(3634-3636)tCc>tTc	p.S1212F		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	1212	Cys-rich.					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)			GTGGCAAAGGGAATCACATCC	0.672000														51			33		0	0	1	0	0
TULP2	7288	broad.mit.edu	37	19	49391365	49391365	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:49391365G>A	uc002pkz.2	-	7	941	c.790C>T	c.(790-792)Ccc>Tcc	p.P264S		NM_003323	NP_003314	O00295	TULP2_HUMAN	Homo sapiens tubby like protein 2 (TULP2), mRNA.	264					visual perception	cytoplasm|extracellular region		p.S263F(1)		NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		CCAGGGCAGGGGGAGCGGATT	0.637000														43			28		0	0	1	0	0
PGC	5225	broad.mit.edu	37	6	41712504	41712504	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:41712504C>T	uc003ora.2	-	1	169	c.102G>A	c.(100-102)aaG>aaA	p.K34K	PGC_uc021yzm.1_Silent_p.K34K	NM_002630	NP_002621	P20142	PEPC_HUMAN	Homo sapiens progastricsin (pepsinogen C) (PGC), transcript variant 1, mRNA.	34					digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			AGCCCTTCTCCTTCATGGTCT	0.542000														72			24		0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92761137	92761137	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:92761137G>A	uc003umh.1	-	4	5364	c.4148C>T	c.(4147-4149)tCc>tTc	p.S1383F	SAMD9L_uc003umj.1_Missense_Mutation_p.S1383F|SAMD9L_uc003umi.1_Missense_Mutation_p.S1383F|SAMD9L_uc010lfb.1_Missense_Mutation_p.S1383F|SAMD9L_uc003umk.1_Missense_Mutation_p.S1383F|SAMD9L_uc010lfc.1_Missense_Mutation_p.S1383F|SAMD9L_uc010lfd.1_Missense_Mutation_p.S1383F|SAMD9L_uc022ahh.1_Missense_Mutation_p.S1383F	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	1383										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			GGCCAAAATGGAATTTTGTTT	0.378000														150			96		0	0	1	0	0
C20orf132	140699	broad.mit.edu	37	20	35749341	35749341	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr20:35749341C>T	uc010zvu.2	-	16	2166	c.2075G>A	c.(2074-2076)gGa>gAa	p.G692E	C20orf132_uc002xgk.3_Missense_Mutation_p.G324E	NM_152503	NP_689716	Q9H579	CT132_HUMAN	Homo sapiens chromosome 20 open reading frame 132 (C20orf132), transcript variant 1, mRNA.	0										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(115;0.00878)				GCCATCTTTTCCTCCCAGGAG	0.453000														46			32		0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33151926	33151926	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:33151926C>T	uc003ocx.1	-	7	1343	c.1115G>A	c.(1114-1116)gGa>gAa	p.G372E	COL11A2_uc003ocy.1_Intron|COL11A2_uc003ocz.1_Intron	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	372	Nonhelical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						ACTTACGGCTCCTGAGTGGGC	0.532000														128			46		0	0	1	0	0
HCFC1	3054	broad.mit.edu	37	X	153222123	153222123	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:153222123G>A	uc004fjp.3	-	14	3116	c.2588C>T	c.(2587-2589)tCc>tTc	p.S863F		NM_005334	NP_005325	P51610	HCFC1_HUMAN	Homo sapiens host cell factor C1 (VP16-accessory protein) (HCFC1), mRNA.	863	Interaction with GABP2.|Interaction with ZBTB17.				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex|MLL5-L complex|Set1C/COMPASS complex|mitochondrion	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTTGACGGCGGAGACGGTGAC	0.632000														129			90		0	0	1	0	0
SLC25A45	283130	broad.mit.edu	37	11	65144483	65144483	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:65144483G>A	uc001odr.1	-	5	608	c.404C>T	c.(403-405)gCc>gTc	p.A135V	SLC25A45_uc009yqi.1_Missense_Mutation_p.A73V|SLC25A45_uc001odq.1_Missense_Mutation_p.A111V|SLC25A45_uc001ods.1_Missense_Mutation_p.A93V|SLC25A45_uc001odt.1_Missense_Mutation_p.A93V	NM_182556	NP_001070709	Q8N413	S2545_HUMAN	Homo sapiens solute carrier family 25, member 45 (SLC25A45), transcript variant 1, mRNA.	135					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						CCCTGGCTGGGCCCTTGGCTC	0.662000														34			34		0	0	1	0	0
STXBP4	252983	broad.mit.edu	37	17	53237185	53237185	+	Silent	SNP	C	T	T	rs115962086	byFrequency	TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:53237185C>T	uc002iuf.1	+	17	1782	c.1575C>T	c.(1573-1575)atC>atT	p.I525I	STXBP4_uc010dcd.1_Silent_p.I503I	NM_178509	NP_848604	Q6ZWJ1	STXB4_HUMAN	Homo sapiens syntaxin binding protein 4 (STXBP4), mRNA.	525	WW.					cytoplasm	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						CATCCTGGATCCATCCCGTGA	0.433000														66			46		0	0	1	0	0
RLIM	51132	broad.mit.edu	37	X	73811621	73811621	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:73811621C>T	uc004ebu.3	-	4	1819	c.1529G>A	c.(1528-1530)cGa>cAa	p.R510Q	RLIM_uc004ebw.3_Missense_Mutation_p.R510Q	NM_183353	NP_899196	Q9NVW2	RNF12_HUMAN	Homo sapiens ring finger protein, LIM domain interacting (RLIM), transcript variant 2, mRNA.	510					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCGACCCTCTCGCCTGGCACC	0.478000														34			33		0	0	1	0	0
DENND4A	10260	broad.mit.edu	37	15	65983580	65983580	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr15:65983580T>A	uc002api.3	-	22	3734	c.3349A>T	c.(3349-3351)Agc>Tgc	p.S1117C	DENND4A_uc002aph.3_Missense_Mutation_p.S1074C|DENND4A_uc002apj.3_Missense_Mutation_p.S1074C	NM_001144823	NP_001138295	Q7Z401	MYCPP_HUMAN	Homo sapiens DENN/MADD domain containing 4A (DENND4A), transcript variant 1, mRNA.	1074					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						GGTCTCGTGCTTTTTGAGATA	0.368000														11			11		0	0	1	0	0
SLITRK6	84189	broad.mit.edu	37	13	86369420	86369420	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr13:86369420C>T	uc001vll.1	-	1	1683	c.1224G>A	c.(1222-1224)atG>atA	p.M408I	SLITRK6_uc021rla.1_Missense_Mutation_p.M408I	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.	408						integral to membrane		p.M408I(2)|p.F407C(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TCGTTAGGTTCATAAACGATC	0.343000														28			19		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152804264	152804264	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:152804264C>T	uc021zhb.1	-	11	1529	c.1306G>A	c.(1306-1308)Gag>Aag	p.E436K	SYNE1_uc003qot.4_Missense_Mutation_p.E443K|SYNE1_uc003qou.4_Missense_Mutation_p.E436K|SYNE1_uc010kjb.1_Missense_Mutation_p.E419K|SYNE1_uc003qpa.1_Missense_Mutation_p.E436K|SYNE1_uc003qox.1_5'UTR	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	436					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCTGTTTCCTCGTGGACCTGT	0.493000										HNSCC(10;0.0054)				43			131		0	0	1	0	0
OR4C16	219428	broad.mit.edu	37	11	55340395	55340395	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:55340395C>T	uc010rih.2	+	0	792	c.792C>T	c.(790-792)ccC>ccT	p.P264P		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 16 (OR4C16), mRNA.	264					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)				CCGTATTCCCCATGGATAAGA	0.398000														70			48		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140719158	140719158	+	Missense_Mutation	SNP	T	C	C	rs75694557		TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:140719158T>C	uc003ljk.2	+	0	805	c.620T>C	c.(619-621)gTt>gCt	p.V207A	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Missense_Mutation_p.V207A	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	207	Cadherin 2.				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)			GAAGAGGCTGTTCACCACCTC	0.597000														46			43		0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46060276	46060276	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr4:46060276A>T	uc003gxb.3	-	6	1026	c.874T>A	c.(874-876)Ttt>Att	p.F292I		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA.	292					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TTGATCCAAAAAGACACCCAA	0.343000														73			58		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158592936	158592936	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:158592936G>A	uc001fst.1	-	42	6156	c.5957C>T	c.(5956-5958)cCc>cTc	p.P1986L		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1986					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.P1986P(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGTGATCTCGGGAAGTCTCTC	0.502000														416			268		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38830211	38830211	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:38830211G>A	uc021yzh.1	+	43	6396	c.6287G>A	c.(6286-6288)aGa>aAa	p.R2096K	DNAH8_uc003ooe.2_Missense_Mutation_p.R1879K	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATGGATTTCAGAGGCCTAGGA	0.358000														198			81		0	0	1	0	0
SLC9A8	23315	broad.mit.edu	37	20	48500526	48500526	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr20:48500526C>T	uc002xuv.1	+	13	1624	c.1414C>T	c.(1414-1416)Cgc>Tgc	p.R472C	SLC9A8_uc010zym.1_Missense_Mutation_p.R172C|SLC9A8_uc010gic.3_Missense_Mutation_p.R172C|SLC9A8_uc010gid.3_Missense_Mutation_p.R96C	NM_015266	NP_056081	Q9Y2E8	SL9A8_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 8 (SLC9A8), mRNA.	472						Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			GCCCCTCATTCGCCTCATGGA	0.602000														115			105		0	0	1	0	0
MRC2	9902	broad.mit.edu	37	17	60765983	60765983	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:60765983G>A	uc002jad.3	+	21	3585	c.3183G>A	c.(3181-3183)ggG>ggA	p.G1061G	MRC2_uc002jae.3_Silent_p.G132G|MRC2_uc002jaf.3_Missense_Mutation_p.G7E	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	Homo sapiens mannose receptor, C type 2 (MRC2), mRNA.	1061	C-type lectin 6.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GGGCACCTGGGGAGCCCTCTG	0.632000														71			59		0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19409602	19409602	+	RNA	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr13:19409602C>T	uc010tcj.1	-	0		c.36508G>A								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		TTATTTTTCTCTTCTAGCATG	0.313000														15			22		0	0	1	0	0
KLHL25	64410	broad.mit.edu	37	15	86312415	86312415	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr15:86312415C>T	uc002bly.3	-	1	830	c.627G>A	c.(625-627)gtG>gtA	p.V209V	KLHL25_uc021stw.1_Silent_p.V209V	NM_022480	NP_071925	Q9H0H3	ENC2_HUMAN	Homo sapiens kelch-like 25 (Drosophila) (KLHL25), mRNA.	209						cytoplasm				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						CCTCGAAGACCACCCGCTCGT	0.627000														30			38		0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872077	51872077	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr20:51872077C>T	uc002xwo.3	+	1	2967	c.2080C>T	c.(2080-2082)Cca>Tca	p.P694S	TSHZ2_uc021wex.1_Missense_Mutation_p.P691S	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	694					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)			ATGCATCAACCCACTCAGCGC	0.627000														34			38		0	0	1	0	0
C9orf131	138724	broad.mit.edu	37	9	35044893	35044894	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr9:35044893_35044894GG>AA	uc003zvw.3	+	1	2296_2297	c.2267_2268GG>AA	c.(2266-2268)ggg>gAA	p.G756E	C9orf131_uc003zvu.3_Missense_Mutation_p.G708E|C9orf131_uc003zvv.3_Missense_Mutation_p.G683E|C9orf131_uc003zvx.3_Missense_Mutation_p.G721E	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA.	756										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)			ACGTGCCCAGGGGTTAAGGCAG	0.579000														29			57		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124348535	124348535	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr10:124348535G>A	uc001lgk.1	+	16	1965	c.1859G>A	c.(1858-1860)cGa>cAa	p.R620Q	DMBT1_uc001lgl.1_Missense_Mutation_p.R610Q|DMBT1_uc001lgm.1_Intron|DMBT1_uc021qaf.1_Missense_Mutation_p.R620Q|DMBT1_uc021qag.1_Missense_Mutation_p.R610Q|DMBT1_uc021qah.1_Intron|DMBT1_uc009xzz.1_Missense_Mutation_p.R620Q|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Intron	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	620	SRCR 5.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GTCCTATACCGAGGCTCTTGG	0.592000														81			265		0	0	1	0	0
SHPRH	257218	broad.mit.edu	37	6	146256482	146256482	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:146256482G>A	uc003qlf.3	-	11	3064	c.2665C>T	c.(2665-2667)Cct>Tct	p.P889S	SHPRH_uc003qle.3_Missense_Mutation_p.P889S|SHPRH_uc003qlg.1_Missense_Mutation_p.P445S|SHPRH_uc003qlj.1_Missense_Mutation_p.P778S|SHPRH_uc003qlh.3_5'Flank	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	Homo sapiens SNF2 histone linker PHD RING helicase (SHPRH), transcript variant 1, mRNA.	889					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		AGATGCTGAGGATTCTTCTTG	0.398000														12			47		0	0	1	0	0
PRSS54	221191	broad.mit.edu	37	16	58314192	58314192	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr16:58314192A>C	uc002enf.3	-	6	1519	c.1124T>G	c.(1123-1125)tTg>tGg	p.L375W	PRSS54_uc002eng.3_Missense_Mutation_p.L375W|PRSS54_uc010vie.2_Missense_Mutation_p.L276W|CCDC113_uc002ene.3_3'UTR|CCDC113_uc010vid.2_3'UTR	NM_001080492	NP_001073961	Q6PEW0	PRS54_HUMAN	Homo sapiens protease, serine, 54 (PRSS54), mRNA.	375					proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GGGCTGATACAACCTGTTCTG	0.478000														70			44		0	0	1	0	0
STAT6	6778	broad.mit.edu	37	12	57501992	57501992	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:57501992G>A	uc009zpg.3	-	1	219	c.217C>T	c.(217-219)Caa>Taa	p.Q73*	STAT6_uc009zpe.3_Nonsense_Mutation_p.Q24*|STAT6_uc001sna.3_Nonsense_Mutation_p.Q24*|STAT6_uc009zpf.3_Nonsense_Mutation_p.Q24*|STAT6_uc010srb.2_Intron|STAT6_uc010src.2_5'UTR|STAT6_uc010srd.2_Intron	NM_001178081	NP_001171552	P42226	STAT6_HUMAN	Homo sapiens signal transducer and activator of transcription 6, interleukin-4 induced (STAT6), transcript variant 5, mRNA.	24					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	DNA binding|calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						CGCAGGTGTTGGGGAAAGTCG	0.587000														29			17		0	0	1	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14851836	14851836	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr18:14851836A>G	uc010dlo.2	+	35	3716	c.3536A>G	c.(3535-3537)cAt>cGt	p.H1179R	ANKRD30B_uc021uhy.1_Missense_Mutation_p.H1179R|ANKRD30B_uc010xal.1_Missense_Mutation_p.H321R	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN	Homo sapiens ankyrin repeat domain 30B (ANKRD30B), mRNA.	1264										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						GAATCACACCATCCTAGACTG	0.413000														9			4		0	0	1	0	0
REXO1	57455	broad.mit.edu	37	19	1826952	1826952	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:1826952G>A	uc002lua.4	-	1	1931	c.1836C>T	c.(1834-1836)ccC>ccT	p.P612P	REXO1_uc010dsr.1_Silent_p.P566P	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN	Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae) (REXO1), mRNA.	612						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACTCCTCCATGGGGTCGGAGT	0.682000														13			7		0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187524108	187524108	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr4:187524108C>T	uc003izf.3	-	19	11619	c.11431G>A	c.(11431-11433)Gag>Aag	p.E3811K		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	3811	EGF-like 1.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGTTTCTCCTCCCAGGGATCA	0.507000										HNSCC(5;0.00058)				95			67		0	0	1	0	0
KCNK10	54207	broad.mit.edu	37	14	88652299	88652299	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:88652299G>A	uc001xwm.3	-	6	1334	c.1212C>T	c.(1210-1212)gtC>gtT	p.V404V	KCNK10_uc001xwn.3_Silent_p.V404V|KCNK10_uc001xwo.3_Silent_p.V399V	NM_138318	NP_612191	P57789	KCNKA_HUMAN	Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA.	399					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GGGCAGCAAAGACAGAGCGCT	0.677000														97			51		0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101336183	101336183	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:101336183G>A	uc010svm.1	+	4	898	c.326G>A	c.(325-327)gGa>gAa	p.G109E	ANO4_uc010svl.1_Non-coding_Transcript|ANO4_uc001thw.2_Missense_Mutation_p.G74E|ANO4_uc001thx.2_Missense_Mutation_p.G109E	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	109						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						AAATCAAATGGACTTTACTTT	0.368000										HNSCC(74;0.22)				101			77		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38592310	38592310	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:38592310C>T	uc021wvo.1	-	26	5605	c.5553G>A	c.(5551-5553)atG>atA	p.M1851I	SCN5A_uc021wvk.1_Missense_Mutation_p.M1818I|SCN5A_uc021wvl.1_Missense_Mutation_p.M1797I|SCN5A_uc021wvm.1_Missense_Mutation_p.M1833I|SCN5A_uc021wvn.1_Missense_Mutation_p.M1850I|SCN5A_uc021wvp.1_Missense_Mutation_p.M1851I|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.M1663I|SCN5A_uc021wvi.1_Missense_Mutation_p.M1717I	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1851					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)	AGAGAATGTCCATGCAATGGA	0.567000														17			70		0	0	1	0	0
PIBF1	10464	broad.mit.edu	37	13	73491222	73491222	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr13:73491222G>A	uc001vjc.3	+	12	1953	c.1648G>A	c.(1648-1650)Gaa>Aaa	p.E550K	PIBF1_uc001vjb.3_Missense_Mutation_p.E550K|PIBF1_uc010aep.3_Missense_Mutation_p.E9K	NM_006346	NP_006337	Q8WXW3	PIBF1_HUMAN	Homo sapiens progesterone immunomodulatory binding factor 1 (PIBF1), mRNA.	550						centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		AGTTGAAAATGAAGATGAGGC	0.308000														65			52		0	0	1	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47365968	47365968	+	RNA	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:47365968G>A	uc001cqo.1	-	0		c.180C>T			CYP4Z2P_uc009vyn.1_Non-coding_Transcript					Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 2 pseudogene (CYP4Z2P), non-coding RNA.																		GGGGGTGCAGGAAACAGGTGC	0.488000														66			46		0	0	1	0	0
DTX1	1840	broad.mit.edu	37	12	113532725	113532725	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:113532725C>T	uc001tuk.1	+	5	1695	c.1359C>T	c.(1357-1359)ctC>ctT	p.L453L		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	Homo sapiens deltex homolog 1 (Drosophila) (DTX1), mRNA.	453					Notch signaling pathway|negative regulation of neuron differentiation|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						TGCTGTGCCTCGTGGCCATGT	0.657000														64			49		0	0	1	0	0
SLC1A6	6511	broad.mit.edu	37	19	15073069	15073069	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:15073069G>A	uc002naa.1	-	4	687	c.680C>T	c.(679-681)cCa>cTa	p.P227L	SLC1A6_uc010dzu.1_Missense_Mutation_p.P227L|SLC1A6_uc010xod.1_Missense_Mutation_p.P163L|SLC1A6_uc002nab.3_Missense_Mutation_p.P227L|SLC1A6_uc002nac.3_Missense_Mutation_p.P227L	NM_005071	NP_005062	P48664	EAA4_HUMAN	Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	227					synaptic transmission	integral to plasma membrane|membrane fraction	L-aspartate transmembrane transporter activity|high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	CACTGAGAATGGAGGAGGCAT	0.562000														125			81		0	0	1	0	0
OR5D18	219438	broad.mit.edu	37	11	55587126	55587126	+	Silent	SNP	T	C	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:55587126T>C	uc010rin.2	+	0	21	c.21T>C	c.(19-21)aaT>aaC	p.N7N		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA.	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				CTGATAGAAATACAAGTGGGA	0.428000														41			27		0	0	1	0	0
IRF9	10379	broad.mit.edu	37	14	24632675	24632675	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:24632675C>T	uc001wmq.3	+	3	1273	c.453C>T	c.(451-453)aaC>aaT	p.N151N	RNF31_uc001wmp.3_Non-coding_Transcript|IRF9_uc010alj.3_Silent_p.N49N	NM_006084	NP_006075	Q00978	IRF9_HUMAN	Homo sapiens interferon regulatory factor 9 (IRF9), mRNA.	151					interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		CCATGCAGAACTGCACACTCA	0.537000														98			88		0	0	1	0	0
PTGIS	5740	broad.mit.edu	37	20	48156209	48156209	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr20:48156209C>T	uc002xut.3	-	4	625	c.571G>A	c.(571-573)Gaa>Aaa	p.E191K	PTGIS_uc010zyi.2_Missense_Mutation_p.E52K	NM_000961	NP_000952	Q16647	PTGIS_HUMAN	Homo sapiens prostaglandin I2 (prostacyclin) synthase (PTGIS), mRNA.	191					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	GCCTGGCTTTCATGGGTGCGT	0.637000														28			18		0	0	1	0	0
FBXO43	286151	broad.mit.edu	37	8	101153891	101153891	+	Silent	SNP	A	G	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr8:101153891A>G	uc003yjd.3	-	1	1327	c.591T>C	c.(589-591)ttT>ttC	p.F197F	FBXO43_uc003yje.3_Silent_p.F163F|FBXO43_uc010mbp.2_Silent_p.F197F	NM_001029860	NP_001025031	Q4G163	FBX43_HUMAN	Homo sapiens F-box protein 43 (FBXO43), transcript variant 2, mRNA.	197					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			TTGCCCTGGAAAAACCTGAAG	0.323000														28			52		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92085754	92085754	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:92085754C>T	uc001pdj.4	+	0	493	c.476C>T	c.(475-477)tCa>tTa	p.S159L		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	159	Cadherin 2.				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)				CCTTTGTTTTCACCCACAACA	0.413000										TCGA Ovarian(4;0.039)				55			43		0	0	1	0	0
DST	667	broad.mit.edu	37	6	56325024	56325024	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:56325024C>T	uc003pcy.4	-	82	15266	c.15158G>A	c.(15157-15159)cGa>cAa	p.R5053Q	DST_uc003pcv.4_Missense_Mutation_p.R175Q|DST_uc003pcw.4_Missense_Mutation_p.R136Q|DST_uc003pcx.4_Missense_Mutation_p.R99Q	NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	7452					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCCTGGAAGTCGAAGCTTGCT	0.463000														95			26		0	0	1	0	0
PPP2R5B	5526	broad.mit.edu	37	11	64699324	64699324	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:64699324C>T	uc001obz.3	+	9	1393	c.1100C>T	c.(1099-1101)tCc>tTc	p.S367F	PPP2R5B_uc001oby.3_Missense_Mutation_p.S367F	NM_006244	NP_006235	Q15173	2A5B_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B', beta (PPP2R5B), mRNA.	367					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						CGCTGTGTTTCCAGCCCCCAT	0.552000														81			52		0	0	1	0	0
ZNF425	155054	broad.mit.edu	37	7	148802030	148802030	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:148802030G>A	uc003wfj.3	-	3	1066	c.933C>T	c.(931-933)ttC>ttT	p.F311F		NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	Homo sapiens zinc finger protein 425 (ZNF425), mRNA.	311					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			ACTGCTGCACGAAGGCCCGGC	0.657000														51			30		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61834906	61834907	+	Missense_Mutation	DNP	GT	AG	AG			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr10:61834906_61834907GT>AG	uc001jky.3	-	36	6070_6071	c.5732_5733AC>CT	c.(5731-5733)gac>gCT	p.D1911A	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	1911					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCCGCATTAGGTCCTCTTTCAT	0.441000														9			9		0	0	1	0	0
PLD5	200150	broad.mit.edu	37	1	242271106	242271106	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:242271106T>C	uc001hzn.2	-	8	1333	c.1106A>G	c.(1105-1107)gAa>gGa	p.E369G	PLD5_uc021pll.1_Missense_Mutation_p.E277G|PLD5_uc001hzl.4_Missense_Mutation_p.E307G|PLD5_uc001hzm.4_Missense_Mutation_p.E161G|PLD5_uc001hzo.2_Missense_Mutation_p.E277G	NM_152666	NP_001182741	Q8N7P1	PLD5_HUMAN	Homo sapiens phospholipase D family, member 5 (PLD5), transcript variant 1, mRNA.	369						integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			AACTAATGCTTCTCTTATTTT	0.343000														118			59		0	0	1	0	0
GKAP1	80318	broad.mit.edu	37	9	86357478	86357478	+	Silent	SNP	T	C	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr9:86357478T>C	uc004amy.3	-	10	1438	c.942A>G	c.(940-942)gaA>gaG	p.E314E	GKAP1_uc004amz.3_Silent_p.E263E	NM_025211	NP_079487	Q5VSY0	GKAP1_HUMAN	Homo sapiens G kinase anchoring protein 1 (GKAP1), transcript variant 1, mRNA.	314					signal transduction	Golgi apparatus				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	14						TACTTTGTGATTCATCAACTT	0.343000														16			74		0	0	1	0	0
CLEC17A	388512	broad.mit.edu	37	19	14710852	14710852	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:14710852G>A	uc010dzn.2	+	11	829	c.752G>A	c.(751-753)cGa>cAa	p.R251Q	CLEC17A_uc010dzo.2_Missense_Mutation_p.R251Q|CLEC17A_uc002mzh.2_Missense_Mutation_p.R234Q|CLEC17A_uc010xnt.2_Non-coding_Transcript|CLEC17A_uc010xnu.2_Intron	NM_001204118	NP_001191047	Q6ZS10	CL17A_HUMAN	Homo sapiens C-type lectin domain family 17, member A (CLEC17A), transcript variant 1, mRNA.	251						cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity										GACTGCCGCCGAATTACCTGT	0.552000														50			37		0	0	1	0	0
DDR1	780	broad.mit.edu	37	6	30866003	30866003	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:30866003C>T	uc003nrv.3	+	14	2430	c.2388C>T	c.(2386-2388)aaC>aaT	p.N796N	DDR1_uc010jse.3_Silent_p.N753N|DDR1_uc003nrq.3_Silent_p.N753N|DDR1_uc003nrr.3_Silent_p.N790N|DDR1_uc003nrs.3_Silent_p.N790N|DDR1_uc003nrt.3_Silent_p.N753N|DDR1_uc011dms.2_Silent_p.N771N|DDR1_uc003nru.3_Silent_p.N753N|DDR1_uc003nry.2_3'UTR|DDR1_uc003nrx.2_Silent_p.N644N|DDR1_uc003nrw.1_Silent_p.N525N	NM_013994	NP_054700	Q08345	DDR1_HUMAN	Homo sapiens discoidin domain receptor tyrosine kinase 1 (DDR1), transcript variant 3, mRNA.	790	Protein kinase.				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	TGAGCCGGAACCTCTATGCTG	0.582000														94			34		0	0	1	0	0
DHX9	1660	broad.mit.edu	37	1	182845607	182845607	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:182845607C>T	uc001gpr.3	+	17	2230	c.2055C>T	c.(2053-2055)ccC>ccT	p.P685P	DHX9_uc001gps.3_Silent_p.P471P|DHX9_uc001gpt.3_5'Flank	NM_001357	NP_001348	Q08211	DHX9_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 9 (DHX9), transcript variant 1, mRNA.	685	Helicase C-terminal.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	CRD-mediated mRNA stability complex|centrosome|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	p.L684L(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						AGATTCTACCCCTGCATTCTC	0.393000														79			30		0	0	1	0	0
NAA30	122830	broad.mit.edu	37	14	57876124	57876124	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:57876124A>T	uc001xcx.4	+	4	1133	c.979A>T	c.(979-981)Aag>Tag	p.K327*	NAA30_uc010trk.2_Nonsense_Mutation_p.K69*|NAA30_uc010aow.3_Non-coding_Transcript	NM_001011713	NP_001011713	Q147X3	NAA30_HUMAN	Homo sapiens N(alpha)-acetyltransferase 30, NatC catalytic subunit (NAA30), mRNA.	327	N-acetyltransferase.					cytoplasm	peptide alpha-N-acetyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	13						AATAACAAATAAGTCCGCTTT	0.289000														28			27		0	0	1	0	0
PLXNA1	5361	broad.mit.edu	37	3	126736492	126736492	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:126736492C>T	uc003ejg.3	+	16	3501	c.3501C>T	c.(3499-3501)tcC>tcT	p.S1167S		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	Homo sapiens plexin A1 (PLXNA1), mRNA.	1167	IPT/TIG 4.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	p.T1166T(1)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		AGCCCAGCTCCCCACTCATCC	0.642000														246			200		0	0	1	0	0
CLMN	79789	broad.mit.edu	37	14	95679709	95679709	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:95679709G>A	uc001yef.2	-	5	571	c.455C>T	c.(454-456)cCa>cTa	p.P152L		NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN	Homo sapiens calmin (calponin-like, transmembrane) (CLMN), mRNA.	152	Actin-binding.					integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		GCTGGAAGATGGAGAGTTTCT	0.557000														63			40		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228479832	228479832	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:228479832G>A	uc009xez.1	+	38	10617	c.10573G>A	c.(10573-10575)Gag>Aag	p.E3525K	OBSCN_uc001hsn.3_Missense_Mutation_p.E3525K|OBSCN_uc001hsq.1_Missense_Mutation_p.E781K	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	3525	Ig-like 35.				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)				GTGCGGGCAGGAGAGGACCTC	0.592000														125			146		0	0	1	0	0
UROC1	131669	broad.mit.edu	37	3	126207067	126207067	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:126207067G>A	uc010hsi.2	-	18	1998	c.1944C>T	c.(1942-1944)gcC>gcT	p.A648A	UROC1_uc003eiz.2_Silent_p.A588A	NM_001165974	NP_001159446	Q96N76	HUTU_HUMAN	Homo sapiens urocanase domain containing 1 (UROC1), transcript variant 2, mRNA.	588					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		CGTTGTGAAGGGCGACCCAGG	0.612000														202			117		0	0	1	0	0
ATF6	22926	broad.mit.edu	37	1	161928361	161928361	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:161928361C>T	uc001gbs.3	+	15	2047	c.1930C>T	c.(1930-1932)Caa>Taa	p.Q644*		NM_007348	NP_031374	P18850	ATF6A_HUMAN	Homo sapiens activating transcription factor 6 (ATF6), mRNA.	644					positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			GCAGAGGAATCAAACCAACAC	0.517000														132			91		0	0	1	0	0
LOC650368	650368	broad.mit.edu	37	11	3427737	3427737	+	RNA	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:3427737G>A	uc010qxs.1	+	8		c.730G>A			LOC650368_uc001lxy.2_Non-coding_Transcript					Homo sapiens asparagine-linked glycosylation 1-like pseudogene (LOC650368), non-coding RNA.																		AGGGTCGGTGGATCTGGGTGT	0.617000														49			36		0	0	1	0	0
GRIK1	2897	broad.mit.edu	37	21	30961275	30961275	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr21:30961275C>T	uc002yno.1	-	10	1917	c.1453G>A	c.(1453-1455)Gaa>Aaa	p.E485K	GRIK1_uc002ynn.3_Missense_Mutation_p.E470K|GRIK1_uc011acs.2_Missense_Mutation_p.E485K|GRIK1_uc011act.2_Intron|GRIK1_uc010glq.1_Missense_Mutation_p.E328K	NM_000830	NP_000821	P39086	GRIK1_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 1 (GRIK1), transcript variant 1, mRNA.	485					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	TTTGACAATTCTTTCAACAGG	0.393000														110			71		0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119957972	119957972	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:119957972G>A	uc001txe.3	+	8	1480	c.1015G>A	c.(1015-1017)Gaa>Aaa	p.E339K	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	339										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		TGCTTATAAGGAAATGCAGAC	0.483000														145			115		0	0	1	0	0
RGS16	6004	broad.mit.edu	37	1	182569515	182569515	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:182569515G>A	uc001gpl.4	-	4	675	c.521C>T	c.(520-522)tCg>tTg	p.S174L		NM_002928	NP_002919	O15492	RGS16_HUMAN	Homo sapiens regulator of G-protein signaling 16 (RGS16), mRNA.	174	RGS.				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|plasma membrane	GTPase activator activity|calmodulin binding|signal transducer activity	p.K173K(1)		NS(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)	11						GTAAGCAGGCGACTTCAGGAA	0.617000														88			95		0	0	1	0	0
GPR142	350383	broad.mit.edu	37	17	72366762	72366762	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:72366762T>G	uc021ucp.1	+	2	461	c.452T>G	c.(451-453)gTg>gGg	p.V151G	GPR142_uc010wqy.2_Missense_Mutation_p.V154G	NM_181790	NP_861455	Q7Z601	GP142_HUMAN	Homo sapiens G protein-coupled receptor 142 (GPR142), mRNA.	154						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity	p.R150T(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						TCCCCGTGTGTGGCTGGCGTC	0.647000														77			56		0	0	1	0	0
KDM8	79831	broad.mit.edu	37	16	27226198	27226198	+	Splice_Site	SNP	T	G	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr16:27226198T>G	uc010vcn.1	+	4	898	c.780_splice	c.e4-1	p.S260_splice	KDM8_uc002doh.2_Splice_Site_p.S222_splice|KDM8_uc010bxw.2_Intron|KDM8_uc010bxx.2_Splice_Site	NM_001145348	NP_079049	Q8N371	KDM8_HUMAN	Homo sapiens jumonji domain containing 5 (JMJD5), transcript variant 1, mRNA.	222					G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen										TTCTGCTAGTTTGGAGTATAT	0.498000														119			91		0	0	1	0	0
KCTD5	54442	broad.mit.edu	37	16	2757318	2757318	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr16:2757318C>T	uc002crd.3	+	5	750	c.695C>T	c.(694-696)tCa>tTa	p.S232L		NM_018992	NP_061865	Q9NXV2	KCTD5_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 5 (KCTD5), mRNA.	232					interspecies interaction between organisms	cytosol|nucleus|voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2						GAACGAGGCTCAAGGATGTGA	0.473000														60			40		0	0	1	0	0
TAF7L	54457	broad.mit.edu	37	X	100547999	100547999	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:100547999G>A	uc004ehb.3	-	0	61	c.35C>T	c.(34-36)tCa>tTa	p.S12L	TAF7L_uc004ehc.2_5'Flank	NM_024885	NP_001161946	Q5H9L4	TAF7L_HUMAN	Homo sapiens TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa (TAF7L), transcript variant 1, mRNA.	12					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						ATCATTTTCTGAAGAAATGGG	0.498000														352			267		0	0	1	0	0
DEFB112	245915	broad.mit.edu	37	6	50016259	50016259	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:50016259T>A	uc011dws.2	-	0	106	c.106A>T	c.(106-108)Atc>Ttc	p.I36F		NM_001037498	NP_001032587	Q30KQ8	DB112_HUMAN	Homo sapiens defensin, beta 112 (DEFB112), mRNA.	36					defense response to bacterium	extracellular region		p.I36I(2)		central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.042)					CCTGTGCTGATTTTCTCTGTC	0.313000														92			41		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179446457	179446457	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:179446457G>C	uc021vsy.1	-	264	59059	c.58834C>G	c.(58834-58836)Cca>Gca	p.P19612A	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P13307A|TTN_uc021vta.1_Missense_Mutation_p.P13240A|TTN_uc021vtb.1_Missense_Mutation_p.P13115A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	20539	Ig-like 109.						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)			TCATAGGCTGGCTTGCCCCAA	0.473000														11			8		0	0	1	0	0
OR8H1	219469	broad.mit.edu	37	11	56058264	56058264	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:56058264G>A	uc010rje.2	-	0	275	c.275C>T	c.(274-276)tCc>tTc	p.S92F		NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 1 (OR8H1), mRNA.	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					GCCCATGAAGGAAATATAGTT	0.398000														271			157		0	0	1	0	0
MID2	11043	broad.mit.edu	37	X	107084267	107084268	+	Missense_Mutation	DNP	GA	AC	AC			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:107084267_107084268GA>AC	uc004enl.3	+	1	945_946	c.372_373GA>AC	c.(370-375)aggact>agACct	p.T125P	MID2_uc004enk.3_Missense_Mutation_p.T125P	NM_012216	NP_036348	Q9UJV3	TRIM1_HUMAN	Homo sapiens midline 2 (MID2), transcript variant 1, mRNA.	125						centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						GCCGGGAAAGGACTTACAGGCC	0.530000														65			31		0	0	1	0	0
OR11H4	390442	broad.mit.edu	37	14	20711659	20711659	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:20711659C>T	uc010tld.2	+	0	709	c.709C>T	c.(709-711)Cag>Tag	p.Q237*		NM_001004479	NP_001004479	Q8NGC9	O11H4_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 4 (OR11H4), mRNA.	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		AGCTGTTTTTCAGGTCCCTTC	0.408000														255			150		0	0	1	0	0
OR51B2	79345	broad.mit.edu	37	11	5345100	5345100	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:5345100C>T	uc001mao.1	-	0	483	c.428G>A	c.(427-429)gGa>gAa	p.G143E	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 2 (OR51B2), mRNA.	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G143L(2)|p.G143V(2)|p.G143*(1)|p.G143R(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACTCCCACTCCTAACGCTAT	0.413000														101			84		0	0	1	0	0
C17orf47	284083	broad.mit.edu	37	17	56619270	56619270	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:56619270G>A	uc002iwq.2	-	1	1805	c.1619C>T	c.(1618-1620)tCc>tTc	p.S540F	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.	540										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)					CCATAGGAGGGAAAAGCACAG	0.493000														81			49		0	0	1	0	0
GPR149	344758	broad.mit.edu	37	3	154146664	154146664	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:154146664T>G	uc003faa.3	-	0	841	c.741A>C	c.(739-741)agA>agC	p.R247S		NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	Homo sapiens G protein-coupled receptor 149 (GPR149), mRNA.	247						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GGGAAACCACTCTCCCCGCAG	0.642000														39			31		0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100350389	100350389	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:100350389C>T	uc003uwj.3	+	13	2826	c.2661C>T	c.(2659-2661)atC>atT	p.I887I	ZAN_uc003uwk.3_Silent_p.I887I|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	887	66 X heptapeptide repeats (approximate) (mucin-like domain).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AACCCACCATCCCCATTGAAG	0.502000														23			53		0	0	1	0	0
TOX3	27324	broad.mit.edu	37	16	52473848	52473848	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr16:52473848G>A	uc002egw.2	-	6	1191	c.1020C>T	c.(1018-1020)atC>atT	p.I340I	TOX3_uc010vgt.1_Silent_p.I335I	NM_001080430	NP_001073899	O15405	TOX3_HUMAN	Homo sapiens TOX high mobility group box family member 3 (TOX3), transcript variant 1, mRNA.	340					apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity	p.I340I(2)|p.I335I(1)		NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						GAACAGAACGGATGGTCTGGG	0.453000														42			31		0	0	1	0	0
ASIC2	40	broad.mit.edu	37	17	31350959	31350959	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:31350959C>T	uc002hht.3	-	5	2142	c.1269G>A	c.(1267-1269)gaG>gaA	p.E423E	ASIC2_uc002hhu.3_Silent_p.E372E	NM_183377	NP_899233	Q16515	ACCN1_HUMAN	Homo sapiens amiloride-sensitive cation channel 1, neuronal (ACCN1), transcript variant MDEG2, mRNA.	372					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	CCATGGAGAGCTCTTTGTTGT	0.473000														109			85		0	0	1	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50190289	50190289	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:50190289G>A	uc009zlk.2	-	7	1556	c.1354C>T	c.(1354-1356)Cca>Tca	p.P452S	NCKAP5L_uc001rvc.3_5'Flank|NCKAP5L_uc001rvb.2_Missense_Mutation_p.P45S	NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN	Homo sapiens NCK-associated protein 5-like (NCKAP5L), mRNA.	448	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						CCCCTAGCTGGAGAGGGCAGA	0.632000														17			12		0	0	1	0	0
KRT222	125113	broad.mit.edu	37	17	38816460	38816460	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:38816460C>T	uc002hvc.2	-	3	291	c.226_splice	c.e3-1	p.E76_splice	KRT222_uc002hvb.2_Splice_Site_p.E36_splice|KRT222_uc010cxc.3_Splice_Site_p.E36_splice	NM_152349	NP_689562	Q8N1A0	KT222_HUMAN	Homo sapiens keratin 222 (KRT222), mRNA.	76						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						GGCCCCTTTCCTGTTTTATAT	0.383000														53			40		0	0	1	0	0
SRD5A1	6715	broad.mit.edu	37	5	6656243	6656243	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:6656243C>T	uc003jdw.3	+	2	703	c.513C>T	c.(511-513)atC>atT	p.I171I	SRD5A1_uc011cml.2_Non-coding_Transcript|SRD5A1_uc011cmm.2_Silent_p.I124I	NM_001047	NP_001038	P18405	S5A1_HUMAN	Homo sapiens steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1) (SRD5A1), mRNA.	171					androgen biosynthetic process|cell differentiation|sex determination|sex differentiation	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|electron carrier activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Dutasteride(DB01126)|Finasteride(DB01216)	CAGATCATATCCTAAGGAATC	0.373000														37			30		0	0	1	0	0
FLJ43860	389690	broad.mit.edu	37	8	142517231	142517231	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr8:142517231C>T	uc003ywi.2	-	0	100	c.19G>A	c.(19-21)Gaa>Aaa	p.E7K		NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	Homo sapiens FLJ43860 protein (FLJ43860), mRNA.	7							binding					all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TATGGCCTTTCAGAACACTGC	0.642000														68			9		0	0	1	0	0
LOC100288077	100288077	broad.mit.edu	37	11	102702784	102702784	+	RNA	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:102702784G>A	uc001phh.1	+	5		c.1347G>A								Homo sapiens Wilms tumor 1 associated protein pseudogene (LOC100288077), non-coding RNA.																		GAAGACAAACGGGAACAAGCC	0.493000														23			12		0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193028435	193028435	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:193028435C>T	uc011bsq.2	-	20	2517	c.2517G>A	c.(2515-2517)caG>caA	p.Q839Q		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	839					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		ACTTTAATTTCTGAAATTCTT	0.358000														54			51		0	0	1	0	0
SLC38A1	81539	broad.mit.edu	37	12	46601349	46601349	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:46601349G>A	uc009zkj.1	-	6	1129	c.444C>T	c.(442-444)ttC>ttT	p.F148F	SLC38A1_uc001rpb.3_Silent_p.F148F|SLC38A1_uc001rpc.3_Silent_p.F148F|SLC38A1_uc001rpd.3_Silent_p.F148F|SLC38A1_uc001rpe.3_Silent_p.F148F|SLC38A1_uc010slh.2_Silent_p.F121F|SLC38A1_uc001rpa.3_Silent_p.F148F	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	Homo sapiens solute carrier family 38, member 1 (SLC38A1), transcript variant 1, mRNA.	148					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			CAAAGATTACGAACTTCCCTG	0.413000														110			53		0	0	1	0	0
CALML5	51806	broad.mit.edu	37	10	5541194	5541194	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr10:5541194G>A	uc001iic.2	-	0	340	c.208C>T	c.(208-210)Ctg>Ttg	p.L70L		NM_017422	NP_059118	Q9NZT1	CALL5_HUMAN	Homo sapiens calmodulin-like 5 (CALML5), mRNA.	70	EF-hand 2.				epidermis development|signal transduction		calcium ion binding|protein binding			biliary_tract(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|stomach(1)	8						GCCGCCGTCAGGAACTCCTGG	0.652000														31			31		0	0	1	0	0
ISOC2	79763	broad.mit.edu	37	19	55966703	55966703	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:55966703G>A	uc002qla.3	-	3	565	c.391C>T	c.(391-393)Cca>Tca	p.P131S	ISOC2_uc002qlb.3_Intron|ISOC2_uc002qlc.3_Intron	NM_024710	NP_078986	Q96AB3	ISOC2_HUMAN	Homo sapiens isochorismatase domain containing 2 (ISOC2), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	116					protein destabilization	mitochondrion|nucleus	catalytic activity|protein binding	p.P131S(2)|p.Y130Y(1)		endometrium(1)|lung(4)|ovary(1)|stomach(1)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0535)		GTGTTCTGTGGGTAGAGAGAG	0.637000														37			11		0	0	1	0	0
SLC6A12	6539	broad.mit.edu	37	12	305954	305954	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:305954G>A	uc001qhz.3	-	11	1834	c.1170C>T	c.(1168-1170)ttC>ttT	p.F390F	SLC6A12_uc001qhy.3_Intron|SLC6A12_uc001qia.3_Silent_p.F390F|SLC6A12_uc001qib.3_Silent_p.F390F|SLC6A12_uc009zdh.2_Silent_p.F390F	NM_003044	NP_003035	P48065	S6A12_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12 (SLC6A12), transcript variant 1, mRNA.	390					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			CCAGCCCTAGGAATATGAGCA	0.582000														103			83		0	0	1	0	0
LIPE	3991	broad.mit.edu	37	19	42914822	42914822	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:42914822C>T	uc002otr.3	-	1	1333	c.1056G>A	c.(1054-1056)ctG>ctA	p.L352L	AK311181_uc010eif.1_Intron|LIPE_uc002ots.1_Silent_p.L97L	NM_005357	NP_005348	Q05469	LIPS_HUMAN	Homo sapiens lipase, hormone-sensitive (LIPE), mRNA.	352					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				GCAGGCGGCCCAGGGCCGGCT	0.692000														8			10		0	0	1	0	0
PRSS41	360226	broad.mit.edu	37	16	2854974	2854974	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr16:2854974C>T	uc010uwi.2	+	4	798	c.798C>T	c.(796-798)atC>atT	p.I266I		NM_001135086	NP_001128558	Q7RTY9	PRS41_HUMAN	Homo sapiens protease, serine, 41 (PRSS41), mRNA.	266	Peptidase S1.				proteolysis	anchored to membrane|plasma membrane	serine-type endopeptidase activity										AGGTTGGAATCGTGAGCTGGG	0.582000														9			9		0	0	1	0	0
CNGA2	1260	broad.mit.edu	37	X	150912097	150912097	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:150912097G>A	uc004fey.1	+	6	1346	c.1122G>A	c.(1120-1122)atG>atA	p.M374I		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 2 (CNGA2), mRNA.	374					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	p.M374I(2)		breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					TGGGCTCCATGATCTCCAACA	0.517000														125			75		0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197172778	197172778	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:197172778C>T	uc002utm.1	-	10	2649	c.2466G>A	c.(2464-2466)agG>agA	p.R822R	HECW2_uc002utl.1_Silent_p.R466R	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	822	Interaction with TP73.|WW 1.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CGTAGAAGATCCTGCCGTGGC	0.532000														30			22		0	0	1	0	0
RORC	6097	broad.mit.edu	37	1	151786028	151786028	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:151786028G>A	uc001ezh.3	-	6	1110	c.1002C>T	c.(1000-1002)ttC>ttT	p.F334F	RORC_uc001ezg.3_Silent_p.F313F|RORC_uc010pdo.2_Silent_p.F388F|RORC_uc010pdp.2_Silent_p.F334F	NM_005060	NP_005051	P51449	RORG_HUMAN	Homo sapiens RAR-related orphan receptor C (RORC), transcript variant 1, mRNA.	334	Ligand-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.E333E(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCCTCTTGGCGAACTCCACCA	0.612000														50			50		0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50985602	50985602	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr18:50985602G>A	uc002lfe.2	+	24	4009	c.3393_splice	c.e24-1	p.K1131_splice	DCC_uc010dpf.2_Splice_Site_p.K766_splice	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	1131					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)		TGTTCCATAGGAAACGGGCCA	0.443000														26			21		0	0	1	0	0
MPP1	4354	broad.mit.edu	37	X	154018294	154018294	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:154018294C>T	uc004fmp.2	-	4	569	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K	MPP1_uc011mzv.2_Missense_Mutation_p.E109K|MPP1_uc010nvg.2_Missense_Mutation_p.E139K|MPP1_uc011mzw.2_Missense_Mutation_p.E122K|MPP1_uc010nvh.2_Intron	NM_002436	NP_002427	Q00013	EM55_HUMAN	Homo sapiens membrane protein, palmitoylated 1, 55kDa (MPP1), transcript variant 1, mRNA.	139	PDZ.				regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCTTTGGTTTCTTTCTATTAA	0.378000														35			18		0	0	1	0	0
PIM2	11040	broad.mit.edu	37	X	48771524	48771524	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:48771524G>A	uc004dls.3	-	5	1122	c.820C>T	c.(820-822)Cga>Tga	p.R274*	SLC35A2_uc004dlo.1_5'Flank|SLC35A2_uc011mml.1_5'Flank|SLC35A2_uc004dlp.1_5'Flank|SLC35A2_uc011mmm.1_5'Flank|SLC35A2_uc011mmn.1_5'Flank|SLC35A2_uc004dlq.3_5'Flank|SLC35A2_uc011mmo.1_5'Flank	NM_006875	NP_006866	Q9P1W9	PIM2_HUMAN	Homo sapiens pim-2 oncogene (PIM2), mRNA.	274	Protein kinase.				anti-apoptosis|cell proliferation|male meiosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of autophagy|response to virus		ATP binding|protein serine/threonine kinase activity	p.R274fs*>38(2)		lung(3)|stomach(1)	4						AGTGAGGGTCGGGAAGAAGGT	0.602000														19			12		0	0	1	0	0
MGAT2	4247	broad.mit.edu	37	14	50088228	50088228	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:50088228A>G	uc001wwr.3	+	0	740	c.242A>G	c.(241-243)cAg>cGg	p.Q81R	NEMF_uc010anj.1_Intron|RPL36AL_uc001wwq.1_5'Flank|RPL36AL_uc021rsq.1_5'Flank	NM_002408	NP_002399	Q10469	MGAT2_HUMAN	Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase (MGAT2), mRNA.	81					oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11	all_epithelial(31;0.0021)|Breast(41;0.0124)					GCGGTCCCCCAGCCCGAGGCG	0.687000														52			37		0	0	1	0	0
PRPS1L1	221823	broad.mit.edu	37	7	18067089	18067089	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:18067089G>A	uc003stz.3	-	0	398	c.317C>T	c.(316-318)cCa>cTa	p.P106L		NM_175886	NP_787082	P21108	PRPS3_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase 1-like 1 (PRPS1L1), mRNA.	106					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					GGCAGAGATTGGGGACCGGCT	0.463000														104			66		0	0	1	0	0
GPRC5C	55890	broad.mit.edu	37	17	72435915	72435915	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:72435915G>A	uc002jkp.3	+	1	646	c.135G>A	c.(133-135)agG>agA	p.R45R	GPRC5C_uc002jkq.3_Silent_p.R45R|GPRC5C_uc002jkr.3_Silent_p.R12R|GPRC5C_uc002jkt.3_5'UTR	NM_022036	NP_071319	Q9NQ84	GPC5C_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member C (GPRC5C), transcript variant 1, mRNA.	206						cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						TGGGAGCCAGGATGGCCATCC	0.582000														53			38		0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54905569	54905569	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:54905569G>A	uc003dhf.3	+	17	1678	c.1630G>A	c.(1630-1632)Gaa>Aaa	p.E544K	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Missense_Mutation_p.E450K|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Missense_Mutation_p.E278K	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	544	Cache.					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)		TTGCTAGTACGAAGAAGGAAA	0.443000														12			29		0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	72956643	72956643	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:72956643G>A	uc001sxa.3	+	8	1760	c.1730G>A	c.(1729-1731)aGa>aAa	p.R577K		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	577					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GCTTTAAAAAGAAATGGGAAA	0.284000														69			47		0	0	1	0	0
SIGLEC6	946	broad.mit.edu	37	19	52023351	52023351	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:52023351G>A	uc002pwy.3	-	7	1555	c.1347C>T	c.(1345-1347)atC>atT	p.I449I	SIGLEC6_uc002pwz.3_Silent_p.I433I|SIGLEC6_uc010ydb.2_Silent_p.I397I|SIGLEC6_uc010ydc.2_3'UTR|SIGLEC6_uc002pxa.3_3'UTR|SIGLEC6_uc010eoz.2_3'UTR	NM_001245	NP_001236	O43699	SIGL6_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.	449					cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		TGTGTATCTTGATTTCTGAGT	0.478000														107			62		0	0	1	0	0
EGR4	1961	broad.mit.edu	37	2	73518830	73518830	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:73518830C>T	uc010yrj.2	-	1	1600	c.1525G>A	c.(1525-1527)Ggc>Agc	p.G509S	EGR4_uc010yrk.1_Missense_Mutation_p.G508S	NM_001965	NP_001956	B7ZKU3	B7ZKU3_HUMAN	Homo sapiens early growth response 4 (EGR4), mRNA.	405						intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GGTTTGTGGCCCGTGTGGATG	0.672000														77			31		0	0	1	0	0
USP43	124739	broad.mit.edu	37	17	9632212	9632212	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:9632212C>T	uc010cod.3	+	14	3277	c.3277C>T	c.(3277-3279)Cca>Tca	p.P1093S	USP43_uc002gma.4_Missense_Mutation_p.P782S|USP43_uc010vva.2_Missense_Mutation_p.P1088S|USP43_uc010coe.3_Missense_Mutation_p.P890S|USP43_uc002gmc.4_Missense_Mutation_p.P605S	NM_153210	NP_694942	Q70EL4	UBP43_HUMAN	Homo sapiens ubiquitin specific peptidase 43 (USP43), mRNA.	1093					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						AAGGACTGTTCCAGGGGAGCA	0.547000														74			51		0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53104211	53104211	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:53104211T>G	uc003tpz.3	+	0	863	c.847T>G	c.(847-849)Ttc>Gtc	p.F283V		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	283								p.F283L(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TAGGGTCTCCTTCGCCCTCGA	0.622000														63			39		0	0	1	0	0
NEDD1	121441	broad.mit.edu	37	12	97334297	97334297	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:97334297T>C	uc001tew.3	+	8	1395	c.1249T>C	c.(1249-1251)Ttc>Ctc	p.F417L	NEDD1_uc001teu.4_Missense_Mutation_p.F410L|NEDD1_uc001tev.4_Missense_Mutation_p.F410L|NEDD1_uc010svc.2_Missense_Mutation_p.F321L|NEDD1_uc001tex.3_Missense_Mutation_p.F321L	NM_001135175	NP_001128649	Q8NHV4	NEDD1_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 1 (NEDD1), transcript variant 1, mRNA.	410					G2/M transition of mitotic cell cycle|cell division|mitosis	cytosol				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						AGGTGACATGTTCTCACCTAT	0.368000														69			64		0	0	1	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762210	130762210	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:130762210G>A	uc003qcb.3	+	1	3021	c.643G>A	c.(643-645)Ggt>Agt	p.G215S	TMEM200A_uc003qca.3_Missense_Mutation_p.G215S|TMEM200A_uc010kfh.3_Missense_Mutation_p.G215S|TMEM200A_uc010kfi.3_Missense_Mutation_p.G215S|TMEM200A_uc021zfg.1_Missense_Mutation_p.G215S	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	Homo sapiens transmembrane protein 200A (TMEM200A), mRNA.	215						integral to membrane		p.S214S(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		CTCTTTCTCGGGTTTTCGGAG	0.483000														5			16		0	0	1	0	0
CLCA3P	9629	broad.mit.edu	37	1	87104641	87104641	+	RNA	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:87104641G>A	uc010osh.2	+	4		c.676G>A								Homo sapiens chloride channel accessory 3, pseudogene (CLCA3P), non-coding RNA.											endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5						AGGGCTGTATGAAGCAAAATG	0.413000														66			48		0	0	1	0	0
HSPA4	3308	broad.mit.edu	37	5	132425303	132425303	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:132425303C>T	uc003kyj.3	+	10	1575	c.1294C>T	c.(1294-1296)Ctt>Ttt	p.L432F		NM_002154	NP_002145	P34932	HSP74_HUMAN	Homo sapiens heat shock 70kDa protein 4 (HSPA4), mRNA.	432					cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTCTAAAGTTCTTACATTTTA	0.388000														27			20		0	0	1	0	0
DHX29	54505	broad.mit.edu	37	5	54566472	54566472	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:54566472A>G	uc003jpx.3	-	18	3047	c.2927T>C	c.(2926-2928)tTg>tCg	p.L976S	DHX29_uc010ivw.3_Non-coding_Transcript	NM_019030	NP_061903	Q7Z478	DHX29_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 29 (DHX29), mRNA.	976	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				CTGGCGCTGCAAAGCACTGGC	0.433000														75			58		0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166996032	166996032	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr4:166996032A>G	uc003irh.2	+	16	2838	c.2191A>G	c.(2191-2193)Aaa>Gaa	p.K731E	TLL1_uc011cjn.2_Missense_Mutation_p.K754E|TLL1_uc011cjo.2_Missense_Mutation_p.K555E	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	731	EGF-like 2; calcium-binding (Potential).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.D730E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TTTGCTAGACAAAGATGAATG	0.403000														65			64		0	0	1	0	0
EVI5	7813	broad.mit.edu	37	1	92979374	92979374	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:92979374G>A	uc010otf.2	-	18	2315	c.2305C>T	c.(2305-2307)Cct>Tct	p.P769S	EVI5_uc001dox.3_Missense_Mutation_p.P758S	NM_005665	NP_005656	O60447	EVI5_HUMAN	Homo sapiens ecotropic viral integration site 5 (EVI5), mRNA.	758	Interaction with AURKB and INCENP.|Targeting to the centrosomes.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	Rab GTPase activator activity|protein binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		CCGTGCAAAGGAAAACCAACA	0.433000														67			50		0	0	1	0	0
IKZF2	22807	broad.mit.edu	37	2	213914511	213914511	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:213914511G>A	uc002vem.3	-	4	669	c.500C>T	c.(499-501)cCg>cTg	p.P167L	IKZF2_uc010fuu.3_Intron|IKZF2_uc002vej.3_Missense_Mutation_p.P114L|IKZF2_uc002vek.3_Non-coding_Transcript|IKZF2_uc010fuv.3_Missense_Mutation_p.P141L|IKZF2_uc002vel.3_Missense_Mutation_p.P88L|IKZF2_uc010fuw.3_5'UTR|IKZF2_uc010fux.3_5'UTR|IKZF2_uc010fuy.3_Missense_Mutation_p.P141L|IKZF2_uc002ven.3_Missense_Mutation_p.P141L	NM_016260	NP_057344	Q9UKS7	IKZF2_HUMAN	Homo sapiens IKAROS family zinc finger 2 (Helios) (IKZF2), transcript variant 1, mRNA.	167					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		ACATTTGAACGGCTTCTCTCC	0.502000														40			31		0	0	1	0	0
CCND2	894	broad.mit.edu	37	12	4409052	4409052	+	Silent	SNP	G	A	A	rs149961693		TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:4409052G>A	uc001qmo.3	+	4	1052	c.747G>A	c.(745-747)caG>caA	p.Q249Q		NM_001759	NP_001750	P30279	CCND2_HUMAN	Homo sapiens cyclin D2 (CCND2), mRNA.	249					cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			GCCAGGAGCAGATTGAGGCGG	0.527000			T	IGL@	"""NHL,CLL"""									62			61		0	0	1	0	0
USO1	8615	broad.mit.edu	37	4	76730143	76730143	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr4:76730143C>T	uc003hiu.3	+	19	2436	c.2261C>T	c.(2260-2262)tCt>tTt	p.S754F	USO1_uc003hiv.3_Missense_Mutation_p.S647F|USO1_uc003hiw.3_Missense_Mutation_p.S640F	NM_003715	NP_003706	O60763	USO1_HUMAN	Homo sapiens USO1 vesicle docking protein homolog (yeast) (USO1), mRNA.	805					intracellular protein transport|vesicle fusion with Golgi apparatus	Golgi membrane|cytosol	protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AACTCACAATCTGTGGAGATC	0.323000														16			13		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140857391	140857391	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:140857391C>T	uc003lkv.2	+	0	1823	c.1708C>T	c.(1708-1710)Cct>Tct	p.P570S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lku.1_Missense_Mutation_p.P570S|PCDHGC5_uc003lkw.2_Intron	NM_002588	NP_002579	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily C, 3 (PCDHGC3), transcript variant 1, mRNA.	567			D -> G (in dbSNP:rs2074912).		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)			GGTCCTATATCCTCGGCCAGG	0.597000											OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		85			56		0	0	1	0	0
LYPLAL1	127018	broad.mit.edu	37	1	219385019	219385019	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:219385019G>A	uc001hlq.4	+	4	704	c.663G>A	c.(661-663)ttG>ttA	p.L221L	LYPLAL1_uc001hlr.4_Silent_p.L205L|LYPLAL1_uc001hls.4_Silent_p.L97L|LYPLAL1_uc001hlt.4_Silent_p.L97L|LYPLAL1_uc009xds.3_Silent_p.L170L	NM_138794	NP_620149	Q5VWZ2	LYPL1_HUMAN	Homo sapiens lysophospholipase-like 1 (LYPLAL1), mRNA.	221						cytoplasm	lysophospholipase activity			large_intestine(1)|lung(5)	6				GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116)		TAGACATATTGAAGTTATGGA	0.328000														116			64		0	0	1	0	0
KIAA1211	57482	broad.mit.edu	37	4	57182009	57182009	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr4:57182009G>A	uc003hbk.2	+	7	2732	c.2341G>A	c.(2341-2343)Gag>Aag	p.E781K	KIAA1211_uc010iha.2_Missense_Mutation_p.E774K|KIAA1211_uc011bzz.1_Missense_Mutation_p.E691K|KIAA1211_uc003hbm.1_Missense_Mutation_p.E667K	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	Homo sapiens KIAA1211 (KIAA1211), mRNA.	781										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GATGCACCGGGAGCCCGCAGA	0.622000														71			53		0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16296029	16296029	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr16:16296029G>A	uc002den.4	-	8	1042	c.1005C>T	c.(1003-1005)ttC>ttT	p.F335F	ABCC6_uc010bvo.3_Non-coding_Transcript|ABCC6_uc010uzz.1_Silent_p.F347F	NM_001171	NP_001162	O95255	MRP6_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA.	335	ABC transmembrane type-1 1.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		TAAACTCCAGGAAAAGGCTTG	0.567000														26			9		0	0	1	0	0
EHD3	30845	broad.mit.edu	37	2	31483602	31483602	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:31483602C>T	uc002rnu.3	+	3	1337	c.729C>T	c.(727-729)atC>atT	p.I243I	EHD3_uc010ymt.2_Intron	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN	Homo sapiens EH-domain containing 3 (EHD3), mRNA.	243					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|GTP binding|GTPase activity|calcium ion binding|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					TGGGGAAGATCGTGAACACCC	0.592000														43			39		0	0	1	0	0
JPH2	57158	broad.mit.edu	37	20	42788384	42788384	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr20:42788384T>G	uc002xli.1	-	1	1916	c.1043A>C	c.(1042-1044)aAg>aCg	p.K348T		NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	Homo sapiens junctophilin 2 (JPH2), transcript variant 1, mRNA.	348					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CTTGGTGTCCTTGACCAGCAC	0.672000														53			40		0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23862256	23862256	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:23862256G>A	uc001wjv.3	-	23	3187	c.3116C>T	c.(3115-3117)tCc>tTc	p.S1039F		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	1039					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TTGCTCTAGGGATCCCTCCAG	0.502000														45			57		0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	71130487	71130487	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:71130487G>A	uc003tvy.3	+	6	1172	c.1172G>A	c.(1171-1173)gGc>gAc	p.G391D	WBSCR17_uc003tvz.3_Missense_Mutation_p.G90D	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	391						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				AGCAACATTGGCTTCTACACC	0.537000														69			66		0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77684109	77684109	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:77684109G>A	uc011bgk.2	+	24	4504	c.3861G>A	c.(3859-3861)caG>caA	p.Q1287Q	ROBO2_uc021xat.1_Silent_p.Q1299Q|ROBO2_uc003dpy.4_Silent_p.Q1283Q|ROBO2_uc003dpz.3_Silent_p.Q1348Q|ROBO2_uc011bgj.2_Non-coding_Transcript	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	1283					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GTCAAAGTCAGAGGCCTCGGC	0.493000														81			75		0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30316574	30316574	+	Silent	SNP	A	G	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr10:30316574A>G	uc009xle.2	-	2	2640	c.2503T>C	c.(2503-2505)Tta>Cta	p.L835L	KIAA1462_uc001iux.3_Silent_p.L835L|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Silent_p.L697L	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	835								p.Q834*(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						AAACTTTCTAACTGACTGATC	0.557000														107			76		0	0	1	0	0
KCNJ5	3762	broad.mit.edu	37	11	128781961	128781961	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:128781961G>A	uc001qet.3	+	1	1107	c.793G>A	c.(793-795)Gac>Aac	p.D265N	KCNJ5_uc009zck.3_Missense_Mutation_p.D265N|KCNJ5_uc001qew.3_Missense_Mutation_p.D265N	NM_000890	NP_000881	P48544	IRK5_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 5 (KCNJ5), mRNA.	265					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	TGACACGGGCGACGACCGCCT	0.572000														80			61		0	0	1	0	0
DNAJC10	54431	broad.mit.edu	37	2	183621060	183621060	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:183621060T>G	uc002uow.1	+	17	2088	c.1673T>G	c.(1672-1674)gTg>gGg	p.V558G	DNAJC10_uc002uox.1_Non-coding_Transcript|DNAJC10_uc002uoy.1_Non-coding_Transcript|DNAJC10_uc002uoz.1_Missense_Mutation_p.V512G|DNAJC10_uc010fro.1_Non-coding_Transcript	NM_018981	NP_061854	Q8IXB1	DJC10_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 10 (DNAJC10), mRNA.	558	Thioredoxin 3.				ER-associated protein catabolic process|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			AATCCTTCAGTGGTCTCCCTT	0.393000														106			59		0	0	1	0	0
EHF	26298	broad.mit.edu	37	11	34680128	34680128	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:34680128A>G	uc021qfu.1	+	7	848	c.722A>G	c.(721-723)aAc>aGc	p.N241S	EHF_uc001mvr.2_Missense_Mutation_p.N219S|EHF_uc009yke.2_Missense_Mutation_p.N196S|EHF_uc009ykf.2_Missense_Mutation_p.N222S	NM_001206616	NP_001193545	Q9NZC4	EHF_HUMAN	Homo sapiens ets homologous factor (EHF), transcript variant 1, mRNA.	219					cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		NFIA/EHF(2)	autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			ATCCTCTTGAACCCAGACAAG	0.463000														78			37		0	0	1	0	0
OLFML2B	25903	broad.mit.edu	37	1	161969922	161969922	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:161969922C>T	uc010pkq.2	-	4	1357	c.933G>A	c.(931-933)gaG>gaA	p.E311E	OLFML2B_uc001gbu.3_Silent_p.E310E	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	Homo sapiens olfactomedin-like 2B (OLFML2B), mRNA.	310										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)			CAATGTCATTCTCTTCTTCAG	0.602000														98			64		0	0	1	0	0
TCF4	6925	broad.mit.edu	37	18	52942943	52942943	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr18:52942943C>T	uc002lga.3	-	10	1062	c.1002G>A	c.(1000-1002)ggG>ggA	p.G334G	TCF4_uc021ukg.1_Silent_p.G72G|TCF4_uc021ukh.1_Silent_p.G72G|TCF4_uc002lfw.4_Silent_p.G72G|TCF4_uc010xdu.1_Silent_p.G102G|TCF4_uc010xdv.1_Silent_p.G102G|TCF4_uc021uki.1_Silent_p.G161G|TCF4_uc002lfx.2_Silent_p.G161G|TCF4_uc010xdw.1_Silent_p.G102G|TCF4_uc002lfy.2_Silent_p.G190G|TCF4_uc010xdx.1_Silent_p.G208G|TCF4_uc021ukj.1_Silent_p.G172G|TCF4_uc021ukk.1_Silent_p.G172G|TCF4_uc021ukl.1_Silent_p.G230G|TCF4_uc002lfz.2_Silent_p.G232G|TCF4_uc010dph.1_Silent_p.G232G|TCF4_uc010dpi.3_Silent_p.G238G|TCF4_uc010xdy.1_Silent_p.G208G|TCF4_uc002lgc.4_Silent_p.G153G|TCF4_uc021ukm.1_Missense_Mutation_p.G117E	NM_001243226	NP_001230155	P15884	ITF2_HUMAN	Homo sapiens transcription factor 4 (TCF4), transcript variant 3, mRNA.	232				P -> S (in Ref. 7; CAA36298).	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)		GCTGATTCATCCCACTGGAGG	0.493000														233			156		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69030803	69030803	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr8:69030803G>A	uc003xxv.1	+	26	3372	c.3345G>A	c.(3343-3345)agG>agA	p.R1115R		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	1115					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						ACAGCAATAGGAATTCCATCG	0.463000														217			80		0	0	1	0	0
OR6C4	341418	broad.mit.edu	37	12	55945843	55945843	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:55945843C>T	uc010spp.2	+	0	833	c.833C>T	c.(832-834)tCg>tTg	p.S278L		NM_001005494	NP_001005494	Q8NGE1	OR6C4_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 4 (OR6C4), mRNA.	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						CTCATTACTTCGGTTACTCCC	0.368000														54			29		0	0	1	0	0
GRK7	131890	broad.mit.edu	37	3	141526604	141526604	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:141526604C>T	uc011bnd.2	+	2	1252	c.1168C>T	c.(1168-1170)Cca>Tca	p.P390S		NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN	Homo sapiens G protein-coupled receptor kinase 7 (GRK7), mRNA.	390	Protein kinase.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						TGGACGAACACCATTCAAAGA	0.433000														48			42		0	0	1	0	0
RPS6KA3	6197	broad.mit.edu	37	X	20206023	20206023	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:20206023C>T	uc004czu.3	-	8	697	c.697G>A	c.(697-699)Gag>Aag	p.E233K	RPS6KA3_uc011mjk.2_Missense_Mutation_p.E204K|RPS6KA3_uc004czv.3_Missense_Mutation_p.E221K|RPS6KA3_uc011mjl.2_Missense_Mutation_p.E205K|RPS6KA3_uc011mjm.2_Missense_Mutation_p.E205K	NM_004586	NP_004577	P51812	KS6A3_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 3 (RPS6KA3), mRNA.	233	Protein kinase 1.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|central nervous system development|innate immune response|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41						GCCATATACTCCACAGTTCCA	0.373000														99			71		0	0	1	0	0
HCK	3055	broad.mit.edu	37	20	30689321	30689321	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr20:30689321G>A	uc002wxh.3	+	12	1817	c.1580G>A	c.(1579-1581)tGa>tAa	p.*527*	HCK_uc010gdy.3_Silent_p.*507*|HCK_uc021wbv.1_Silent_p.*506*|HCK_uc002wxi.3_Silent_p.*505*	NM_001172133	NP_001165604	P08631	HCK_HUMAN	Homo sapiens hemopoietic cell kinase (HCK), transcript variant 4, mRNA.	0					interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CAGCAGCCATGATAGGGAGGA	0.627000														18			16		0	0	1	0	0
NCOA5	57727	broad.mit.edu	37	20	44691164	44691164	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr20:44691164G>A	uc002xrd.3	-	6	2043	c.1515C>T	c.(1513-1515)tcC>tcT	p.S505S	NCOA5_uc002xrc.3_3'UTR|NCOA5_uc002xre.3_Silent_p.S505S	NM_020967	NP_066018	Q9HCD5	NCOA5_HUMAN	Homo sapiens nuclear receptor coactivator 5 (NCOA5), mRNA.	505	Transcription activation.				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	ATP binding|aminoacyl-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				AAAGCCCTTGGGAAGGAGCCC	0.547000														33			23		0	0	1	0	0
ATAD3C	219293	broad.mit.edu	37	1	1396133	1396133	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:1396133C>T	uc001aft.2	+	9	1811	c.816C>T	c.(814-816)ttC>ttT	p.F272F		NM_001039211	NP_001034300	Q5T2N8	ATD3C_HUMAN	Homo sapiens ATPase family, AAA domain containing 3C (ATAD3C), mRNA.	272							ATP binding|nucleoside-triphosphatase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CCCGCAGATTCATGCTGATCC	0.652000														22			21		0	0	1	0	0
CLCA4	22802	broad.mit.edu	37	1	87045039	87045039	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:87045039G>A	uc009wcs.3	+	12	2169	c.2125G>A	c.(2125-2127)Gaa>Aaa	p.E709K	CLCA4_uc009wct.3_Missense_Mutation_p.E472K|CLCA4_uc009wcu.3_Missense_Mutation_p.E529K	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	Homo sapiens chloride channel accessory 4 (CLCA4), transcript variant 1, mRNA.	709						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	p.G708R(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		TAATGCAGGGGAAATTGAAGC	0.403000														39			30		0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24879077	24879077	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:24879077A>G	uc001wpf.4	+	3	2395	c.2077A>G	c.(2077-2079)Acc>Gcc	p.T693A		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	693					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						TGCAGGGCCAACCTTGGATGT	0.587000														15			8		0	0	1	0	0
F2RL3	9002	broad.mit.edu	37	19	17000949	17000949	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:17000949C>T	uc002nfa.3	+	1	850	c.675C>T	c.(673-675)cgC>cgT	p.R225R		NM_003950	NP_003941	Q96RI0	PAR4_HUMAN	Homo sapiens coagulation factor II (thrombin) receptor-like 3 (F2RL3), mRNA.	225					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol	extracellular region|integral to plasma membrane	thrombin receptor activity			cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GCTCCGATCGCGTGCTCTGCC	0.697000														19			11		0	0	1	0	0
C1orf106	55765	broad.mit.edu	37	1	200880679	200880679	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:200880679T>C	uc001gvo.3	+	8	1355	c.1313T>C	c.(1312-1314)tTt>tCt	p.F438S	C1orf106_uc010ppm.2_Missense_Mutation_p.F353S	NM_018265	NP_001136041	Q3KP66	CA106_HUMAN	Homo sapiens chromosome 1 open reading frame 106 (C1orf106), transcript variant 1, mRNA.	438										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						GATTCCTGCTTTCCCGCGACC	0.687000														240			354		0	0	1	0	0
SCAMP4	113178	broad.mit.edu	37	19	1918277	1918277	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:1918277C>T	uc002luj.3	+	3	395	c.288C>T	c.(286-288)gcC>gcT	p.A96A	SCAMP4_uc002lui.1_Silent_p.A96A|SCAMP4_uc002luk.3_Silent_p.A96A|SCAMP4_uc010dss.3_Silent_p.A52A	NM_079834	NP_524558	Q969E2	SCAM4_HUMAN	Homo sapiens secretory carrier membrane protein 4 (SCAMP4), mRNA.	96					protein transport	integral to membrane							Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTACAAGGCCTTCCGGTGAG	0.672000														11			16		0	0	1	0	0
NIN	51199	broad.mit.edu	37	14	51219352	51219352	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:51219352G>C	uc001wyi.3	-	20	5025	c.4834C>G	c.(4834-4836)Caa>Gaa	p.Q1612E	NIN_uc001wyj.3_Non-coding_Transcript|NIN_uc001wym.2_Missense_Mutation_p.Q1612E|NIN_uc001wyk.3_Missense_Mutation_p.Q899E|NIN_uc001wyo.3_Missense_Mutation_p.Q1612E	NM_020921	NP_065972	Q8N4C6	NIN_HUMAN	Homo sapiens ninein (GSK3B interacting protein) (NIN), transcript variant 2, mRNA.	1612					centrosome localization	centrosome|microtubule	GTP binding|calcium ion binding|protein binding	p.E1611*(1)		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)					GTTAGACGTTGATTAAGTTCT	0.363000			T	PDGFRB	MPD									386			11		0	0	1	0	0
HIST4H4	121504	broad.mit.edu	37	12	14923946	14923946	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:14923946C>T	uc001rcf.4	-	0	120	c.73G>A	c.(73-75)Gac>Aac	p.D25N	HIST4H4_uc001rce.3_Non-coding_Transcript	NM_175054	NP_778224	P62805	H4_HUMAN	Homo sapiens histone cluster 4, H4 (HIST4H4), mRNA.	25					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)	6						TGGATATTGTCCCGCAGCACC	0.607000											OREG0021698	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		54			44		0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75799851	75799851	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:75799851C>T	uc021zbv.1	-	61	8951	c.8916G>A	c.(8914-8916)ggG>ggA	p.G2972G	COL12A1_uc021zbw.1_Silent_p.G1808G|COL12A1_uc003phs.3_Silent_p.G2972G|COL12A1_uc003pht.3_Silent_p.G1808G	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	2972	Triple-helical region (COL1) with 2 imperfections.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	p.P2971A(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GTCCCTGCATCCCTGGTGTGC	0.627000														127			76		0	0	1	0	0
CLEC5A	23601	broad.mit.edu	37	7	141635679	141635679	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:141635679C>T	uc003vwv.1	-	4	477	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K	CLEC5A_uc011krm.1_Missense_Mutation_p.E71K|CLEC5A_uc003vww.1_Missense_Mutation_p.E94K|CLEC5A_uc010lnq.1_Missense_Mutation_p.E71K|CLEC5A_uc010lnr.1_Intron	NM_013252	NP_037384	Q9NY25	CLC5A_HUMAN	Homo sapiens C-type lectin domain family 5, member A (CLEC5A), mRNA.	94	C-type lectin.				anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development	cell surface|integral to plasma membrane	sugar binding|viral receptor activity			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					TCCCTGCTTTCATTCCAAGAT	0.428000														72			43		0	0	1	0	0
GCC2	9648	broad.mit.edu	37	2	109087301	109087302	+	Missense_Mutation	DNP	GA	TT	TT			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:109087301_109087302GA>TT	uc002tec.3	+	5	1670_1671	c.1516_1517GA>TT	c.(1516-1518)gaa>TTa	p.E506L	GCC2_uc002ted.3_Missense_Mutation_p.E405L	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	Homo sapiens GRIP and coiled-coil domain containing 2 (GCC2), transcript variant 1, mRNA.	506					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						TCAAGAGTTCGAATCAATGAAG	0.381000														100			70		0	0	1	0	0
SULT1C2	6819	broad.mit.edu	37	2	108921046	108921046	+	Missense_Mutation	SNP	G	A	A	rs139416622	byFrequency	TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:108921046G>A	uc002tdy.3	+	4	845	c.392G>A	c.(391-393)cGa>cAa	p.R131Q	SULT1C2_uc010ywp.1_Missense_Mutation_p.R46Q|SULT1C2_uc010ywq.2_Missense_Mutation_p.R145Q|SULT1C2_uc002tdx.3_Missense_Mutation_p.R142Q	NM_001056	NP_001047	O00338	ST1C2_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 2 (SULT1C2), transcript variant 1, mRNA.	131					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	sulfotransferase activity			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						TATGTAGCTCGAAATGCCAAA	0.438000														148			91		0	0	1	0	0
GFRA1	2674	broad.mit.edu	37	10	117884788	117884788	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr10:117884788C>T	uc001lcj.3	-	5	1412	c.714G>A	c.(712-714)agG>agA	p.R238R	GFRA1_uc001lci.3_Silent_p.R233R|GFRA1_uc009xyr.3_Silent_p.R233R	NM_005264	NP_005255	P56159	GFRA1_HUMAN	Homo sapiens GDNF family receptor alpha 1 (GFRA1), transcript variant 1, mRNA.	238					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		TGGGCTTCTCCCTCTCTTCAT	0.547000														14			46		0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55444986	55444986	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:55444986A>T	uc002qih.4	-	7	2669	c.2593T>A	c.(2593-2595)Ttt>Att	p.F865I	NLRP7_uc010esk.3_Missense_Mutation_p.F865I|NLRP7_uc002qig.4_Missense_Mutation_p.F837I|NLRP7_uc002qii.4_Missense_Mutation_p.F865I|NLRP7_uc010esl.3_Missense_Mutation_p.F893I	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	865							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)		TCACACAGAAACTTCACCCCT	0.512000														54			47		0	0	1	0	0
CERS1	10715	broad.mit.edu	37	19	18991213	18991213	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:18991213G>A	uc002nki.1	-	3	694	c.622C>T	c.(622-624)Ctg>Ttg	p.L208L	CERS1_uc002nkj.3_Silent_p.L208L|CERS1_uc010ebx.3_Silent_p.L110L	NM_021267	NP_067090	P27544	CERS1_HUMAN	Homo sapiens ceramide synthase 1 (CERS1), transcript variant 1, mRNA.	208	TLC.				ceramide biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|microsome	sphingosine N-acyltransferase activity			endometrium(3)|lung(2)	5						ATATCGTGCAGGAAGAGCACA	0.582000														8			12		0	0	1	0	0
ANKRD35	148741	broad.mit.edu	37	1	145558498	145558498	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:145558498G>A	uc001eob.1	+	5	547	c.439G>A	c.(439-441)Gac>Aac	p.D147N	ANKRD35_uc010oyx.1_5'UTR	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	Homo sapiens ankyrin repeat domain 35 (ANKRD35), mRNA.	147										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGCCTTCCTGGACGTGTTGGA	0.547000														107			79		0	0	1	0	0
VNN2	8875	broad.mit.edu	37	6	133070863	133070863	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:133070863C>T	uc003qdt.3	-	5	1353	c.1342G>A	c.(1342-1344)Gaa>Aaa	p.E448K	VNN2_uc003qds.3_Missense_Mutation_p.E157K|VNN2_uc010kgb.3_Missense_Mutation_p.E227K|VNN2_uc003qdv.3_Missense_Mutation_p.E395K	NM_004665	NP_004656	O95498	VNN2_HUMAN	Homo sapiens vanin 2 (VNN2), transcript variant 1, mRNA.	448					cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity	p.E448K(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		AGATGAATTTCGGTAAGTAGC	0.373000														8			46		0	0	1	0	0
ZBTB40	9923	broad.mit.edu	37	1	22852823	22852823	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:22852823C>T	uc001bft.2	+	18	4165	c.3654C>T	c.(3652-3654)ctC>ctT	p.L1218L	ZBTB40_uc001bfu.2_Silent_p.L1218L|ZBTB40_uc009vqi.1_Silent_p.L1106L	NM_001083621	NP_055685	Q9NUA8	ZBT40_HUMAN	Homo sapiens zinc finger and BTB domain containing 40 (ZBTB40), transcript variant 1, mRNA.	1218					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		GCTCTGAGCTCGTGGCGGTGA	0.582000														163			105		0	0	1	0	0
NANOS2	339345	broad.mit.edu	37	19	46417689	46417689	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:46417689A>C	uc002pdu.3	-	0	348	c.263T>G	c.(262-264)gTg>gGg	p.V88G		NM_001029861	NP_001025032	P60321	NANO2_HUMAN	Homo sapiens nanos homolog 2 (Drosophila) (NANOS2), mRNA.	88					germ-line stem cell maintenance|mRNA catabolic process|multicellular organismal development|negative regulation of meiosis|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|perinuclear region of cytoplasm	RNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	6		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0668)|Epithelial(262;0.231)		GGGACACACCACCACGCCATC	0.647000														70			48		0	0	1	0	0
VPREB1	7441	broad.mit.edu	37	22	22599238	22599238	+	Missense_Mutation	SNP	C	T	T	rs146019843	byFrequency	TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr22:22599238C>T	uc002zvx.1	+	0	39	c.13C>T	c.(13-15)Cct>Tct	p.P5S	abParts_uc021wml.1_Intron	NM_007128	NP_009059	P12018	VPREB_HUMAN	Homo sapiens pre-B lymphocyte 1 (VPREB1), mRNA.	5					immune response	extracellular region	antigen binding|protein binding			large_intestine(1)|liver(1)|lung(6)|skin(1)	9	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)		READ - Rectum adenocarcinoma(21;0.145)		GTCCTGGGCTCCTGTCCTGCT	0.632000														15			90		0	0	1	0	0
KITLG	4254	broad.mit.edu	37	12	88926235	88926235	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:88926235G>A	uc001tav.3	-	2	370	c.175C>T	c.(175-177)Ccc>Tcc	p.P59S	KITLG_uc001taw.3_Missense_Mutation_p.P59S|KITLG_uc009zso.1_Non-coding_Transcript	NM_000899	NP_000890	P21583	SCF_HUMAN	Homo sapiens KIT ligand (KITLG), transcript variant b, mRNA.	59					cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	growth factor activity|identical protein binding|stem cell factor receptor binding	p.P59P(1)		kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						TCCATCCCGGGGACATATTTG	0.328000									Testicular Cancer, Familial Clustering of					107			91		0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40646759	40646759	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:40646759C>T	uc001rmg.4	+	10	1350	c.1229C>T	c.(1228-1230)tCa>tTa	p.S410L	LRRK2_uc001rmh.1_Missense_Mutation_p.S32L	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	410					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	p.S409F(1)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ATGCATTCTTCATCAAAGGAA	0.363000														57			33		0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54806560	54806560	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:54806560C>T	uc003pck.3	+	4	2907	c.2791C>T	c.(2791-2793)Cgg>Tgg	p.R931W		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	931										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TTCAACTGATCGGCGTGTTTA	0.428000														122			40		0	0	1	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51920574	51920574	+	Silent	SNP	G	A	A	rs142646348		TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:51920574G>A	uc002pwo.3	-	1	405	c.183C>T	c.(181-183)ttC>ttT	p.F61F	SIGLEC10_uc002pwp.3_Silent_p.F61F|SIGLEC10_uc021uyl.1_Silent_p.F61F|SIGLEC10_uc002pwq.3_Silent_p.F61F|SIGLEC10_uc010ycz.2_Silent_p.F61F|SIGLEC10_uc002pws.2_Silent_p.F61F|SIGLEC10_uc002pwr.3_Silent_p.F61F|SIGLEC10_uc010ycy.2_Silent_p.F61F|SIGLEC10_uc010eow.3_Intron|LOC100129083_uc021uym.1_Non-coding_Transcript	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 10 (SIGLEC10), transcript variant 1, mRNA.	61	Ig-like V-type.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		TCACTGCTTTGAACCAGTAGC	0.597000														70			57		0	0	1	0	0
GSPT2	23708	broad.mit.edu	37	X	51487844	51487844	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:51487844G>A	uc004dpl.3	+	0	1364	c.1122G>A	c.(1120-1122)ttG>ttA	p.L374L		NM_018094	NP_060564	Q8IYD1	ERF3B_HUMAN	Homo sapiens G1 to S phase transition 2 (GSPT2), mRNA.	374					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					TGCCCTTTTTGAAAAAAGTAG	0.378000														33			27		0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91766381	91766381	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:91766381C>T	uc010aty.3	-	20	3823	c.3669G>A	c.(3667-3669)ctG>ctA	p.L1223L		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	1223					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)				CCCGCTCCTCCAGCTCCGCCT	0.637000														23			12		0	0	1	0	0
ARMC5	79798	broad.mit.edu	37	16	31471028	31471028	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr16:31471028C>T	uc010vfn.2	+	2	592	c.468C>T	c.(466-468)ttC>ttT	p.F156F	ARMC5_uc010vfo.2_Silent_p.F93F|ARMC5_uc002ecc.3_Silent_p.F61F|ARMC5_uc002eca.4_Silent_p.F61F|ARMC5_uc002ecb.2_Silent_p.F61F|ARMC5_uc010vfp.2_Silent_p.F61F	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN	Homo sapiens armadillo repeat containing 5 (ARMC5), transcript variant 1, mRNA.	61							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TCGAGCGCTTCCGGGCACGCG	0.746000														15			18		0	0	1	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	74004223	74004223	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:74004223G>A	uc003uaq.3	+	22	2802	c.2409G>A	c.(2407-2409)cgG>cgA	p.R803R	GTF2IRD1_uc010lbq.3_Silent_p.R820R|GTF2IRD1_uc003uap.3_Silent_p.R788R|GTF2IRD1_uc003uar.1_Silent_p.R788R	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN	Homo sapiens GTF2I repeat domain containing 1 (GTF2IRD1), transcript variant 1, mRNA.	803						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TGATCCTGCGGGAGCAGGTGA	0.597000														55			32		0	0	1	0	0
SLC25A28	81894	broad.mit.edu	37	10	101370912	101370912	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr10:101370912G>A	uc001kpx.2	-	3	918	c.789C>T	c.(787-789)tcC>tcT	p.S263S	SLC25A28_uc021pwy.1_Silent_p.S75S|SLC25A28_uc021pwz.1_Silent_p.S108S|SLC25A28_uc001kpy.2_Silent_p.S76S	NM_031212	NP_112489	Q96A46	MFRN2_HUMAN	Homo sapiens solute carrier family 25, member 28 (SLC25A28), mRNA.	263					ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane				endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|stomach(1)	11		Colorectal(252;0.234)		Epithelial(162;2.57e-10)|all cancers(201;2.01e-08)		AGAGGACGTGGGAGCTTGGGT	0.552000														10			35		0	0	1	0	0
CD1D	912	broad.mit.edu	37	1	158151329	158151329	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:158151329G>A	uc001frr.3	+	2	645	c.146G>A	c.(145-147)tGg>tAg	p.W49*	CD1D_uc009wsr.1_Nonsense_Mutation_p.W49*|CD1D_uc009wss.3_Nonsense_Mutation_p.W49*|CD1D_uc009wst.1_5'UTR	NM_001766	NP_001757	P15813	CD1D_HUMAN	Homo sapiens CD1d molecule (CD1D), mRNA.	49					T cell selection|antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GGCTTGGCGTGGCTGGGGGAG	0.642000														193			155		0	0	1	0	0
TACR3	6870	broad.mit.edu	37	4	104511147	104511147	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr4:104511147G>A	uc003hxe.1	-	4	1231	c.1090C>T	c.(1090-1092)Cga>Tga	p.R364*		NM_001059	NP_001050	P29371	NK3R_HUMAN	Homo sapiens tachykinin receptor 3 (TACR3), mRNA.	364						integral to plasma membrane	tachykinin receptor activity	p.R364Q(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		AAGCCAGCTCGAAATCTGAGG	0.428000														22			7		0	0	1	0	0
MORN3	283385	broad.mit.edu	37	12	122092264	122092264	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:122092264C>T	uc001uax.3	-	2	550	c.379G>A	c.(379-381)Ggc>Agc	p.G127S	MORN3_uc001uay.3_Non-coding_Transcript	NM_173855	NP_776254	Q6PF18	MORN3_HUMAN	Homo sapiens MORN repeat containing 3 (MORN3), mRNA.	127										breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		TACATGCGGCCCCACCCGCTG	0.582000														14			8		0	0	1	0	0
OTUD7B	56957	broad.mit.edu	37	1	149916222	149916222	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:149916222G>A	uc001etn.3	-	11	2422	c.2066C>T	c.(2065-2067)tCc>tTc	p.S689F		NM_020205	NP_064590	Q6GQQ9	OTU7B_HUMAN	Homo sapiens OTU domain containing 7B (OTUD7B), mRNA.	689					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|cysteine-type peptidase activity|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			GTAGCCAGTGGAAAATGCCAT	0.642000														99			79		0	0	1	0	0
EGFL6	25975	broad.mit.edu	37	X	13607758	13607758	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:13607758G>A	uc004cvj.3	+	1	445	c.158G>A	c.(157-159)tGg>tAg	p.W53*	EGFL6_uc004cvi.3_Nonsense_Mutation_p.W53*|EGFL6_uc011mik.1_5'UTR	NM_001167890	NP_001161362	Q8IUX8	EGFL6_HUMAN	Homo sapiens EGF-like-domain, multiple 6 (EGFL6), transcript variant 2, mRNA.	53					cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						TGCTACGGCTGGAGAAGAAAC	0.483000														90			85		0	0	1	0	0
PSMG1	8624	broad.mit.edu	37	21	40551856	40551856	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr21:40551856C>T	uc002yxi.3	-	3	579	c.450G>A	c.(448-450)ctG>ctA	p.L150L	PSMG1_uc002yxj.3_Intron|PSMG1_uc010gob.3_Silent_p.L63L	NM_003720	NP_003711	O95456	PSMG1_HUMAN	Homo sapiens proteasome (prosome, macropain) assembly chaperone 1 (PSMG1), transcript variant 1, mRNA.	150					proteasome assembly	endoplasmic reticulum	protein binding			autonomic_ganglia(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	8		Prostate(19;8.44e-08)				TTACCTTTTCCAGCCACTGAT	0.368000														46			26		0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131866308	131866308	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:131866308C>G	uc003vra.4	-	17	3553	c.3324G>C	c.(3322-3324)caG>caC	p.Q1108H		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1108	IPT/TIG 3.					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						TCAGGTCTGACTGGTGGTCAG	0.577000														60			68		0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38225581	38225581	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr13:38225581C>T	uc010abx.3	-	7	2135	c.1900G>A	c.(1900-1902)Gaa>Aaa	p.E634K	TRPC4_uc010abv.3_Missense_Mutation_p.E214K|TRPC4_uc001uwt.3_Missense_Mutation_p.E634K|TRPC4_uc001uws.3_Missense_Mutation_p.E634K|TRPC4_uc010tey.2_Missense_Mutation_p.E634K|TRPC4_uc010abw.3_Missense_Mutation_p.E461K|TRPC4_uc010aby.3_Intron	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	634	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		AATTTCCATTCTATATCTGCA	0.423000														102			50		0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32074117	32074117	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:32074117G>A	uc003jhl.3	+	17	3293	c.2905G>A	c.(2905-2907)Gat>Aat	p.D969N	PDZD2_uc003jhm.3_Missense_Mutation_p.D969N|PDZD2_uc011cnx.1_Missense_Mutation_p.D795N	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	969					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CGATGCCAACGATGCCAGTGA	0.612000														54			30		0	0	1	0	0
NID1	4811	broad.mit.edu	37	1	236157083	236157083	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:236157083G>A	uc001hxo.3	-	12	2719	c.2617C>T	c.(2617-2619)Ctg>Ttg	p.L873L	NID1_uc009xgd.3_Silent_p.L740L|NID1_uc009xgc.3_5'UTR	NM_002508	NP_002499	P14543	NID1_HUMAN	Homo sapiens nidogen 1 (NID1), mRNA.	873	Thyroglobulin type-1.				cell-matrix adhesion	basement membrane	calcium ion binding	p.G872R(1)		breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GGAACGAACAGCCCCGGAGGA	0.662000														42			56		0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	102307302	102307302	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:102307302G>A	uc003pqp.4	+	9	1751	c.1458G>A	c.(1456-1458)ggG>ggA	p.G486G	GRIK2_uc003pqn.3_Silent_p.G486G|GRIK2_uc010kcw.3_Silent_p.G486G|GRIK2_uc003pqo.4_Silent_p.G486G|GRIK2_uc021zdk.1_Silent_p.G486G|GRIK2_uc021zdl.1_Non-coding_Transcript	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 2 (GRIK2), transcript variant 1, mRNA.	486					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	TGGAAGATGGGAAATATGGAG	0.383000														24			48		0	0	1	0	0
OR1F1	4992	broad.mit.edu	37	16	3255167	3255167	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr16:3255167G>A	uc010uwu.2	+	0	921	c.921G>A	c.(919-921)agG>agA	p.R307R		NM_012360	NP_036492	O43749	OR1F1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily F, member 1 (OR1F1), mRNA.	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						TAGTTGGCAGGGTGGTGTTTT	0.383000														58			34		0	0	1	0	0
LATS2	26524	broad.mit.edu	37	13	21562821	21562821	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr13:21562821G>A	uc009zzs.3	-	3	1463	c.1098C>T	c.(1096-1098)tcC>tcT	p.S366S	LATS2_uc001unr.4_Silent_p.S366S	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN	Homo sapiens LATS, large tumor suppressor, homolog 2 (Drosophila) (LATS2), mRNA.	366					G1/S transition of mitotic cell cycle|cell division|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		ACTGCTGGACGGAGGTGCTGC	0.721000														54			51		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10077009	10077009	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:10077009G>A	uc002mmq.1	-	63	4849	c.4763C>T	c.(4762-4764)cCc>cTc	p.P1588L		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	1588	Fibrillar collagen NC1.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CTTCTTGTCGGGATAGAGGCA	0.592000														61			49		0	0	1	0	0
SLC19A3	80704	broad.mit.edu	37	2	228563527	228563527	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:228563527G>A	uc002vpi.3	-	2	993	c.904C>T	c.(904-906)Ctg>Ttg	p.L302L	SLC19A3_uc002vpj.3_Non-coding_Transcript|SLC19A3_uc010zlv.1_Silent_p.L298L	NM_025243	NP_079519	Q9BZV2	S19A3_HUMAN	Homo sapiens solute carrier family 19, member 3 (SLC19A3), mRNA.	302					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	TAATCCCACAGGATTTGAACA	0.443000														54			35		0	0	1	0	0
IQCA1	79781	broad.mit.edu	37	2	237300953	237300953	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:237300953C>T	uc002vwb.2	-	9	1306	c.1272G>A	c.(1270-1272)caG>caA	p.Q424Q	IQCA1_uc002vvz.1_Silent_p.Q417Q|IQCA1_uc002vwa.1_Non-coding_Transcript|IQCA1_uc010zni.1_Silent_p.Q376Q	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN	Homo sapiens IQ motif containing with AAA domain 1 (IQCA1), mRNA.	417	Lys-rich.						ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						GATCATAGTCCTGAGAGAAAT	0.338000														7			3		0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121678851	121678851	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:121678851C>G	uc003vjy.3	+	18	5805	c.5410C>G	c.(5410-5412)Ctg>Gtg	p.L1804V	PTPRZ1_uc011knt.2_Missense_Mutation_p.L944V|PTPRZ1_uc003vjz.3_Missense_Mutation_p.L937V	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	1804	Tyrosine-protein phosphatase 1.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CCAAGGCCCACTGAAATCCAC	0.383000														12			61		0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	97329700	97329700	+	Splice_Site	SNP	T	G	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:97329700T>G	uc010how.1	+	13	2617	c.2574_splice	c.e13+2	p.R858_splice	EPHA6_uc011bgp.1_Splice_Site_p.R224_splice|EPHA6_uc003drs.4_Splice_Site_p.R250_splice|EPHA6_uc003drr.4_Splice_Site_p.R250_splice|EPHA6_uc003drt.3_Splice_Site_p.R250_splice|EPHA6_uc010hox.1_Splice_Site	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	763	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TTTTTGCGGGTGAGGTGTTCT	0.338000														42			28		0	0	1	0	0
SYNM	23336	broad.mit.edu	37	15	99670775	99670775	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr15:99670775G>A	uc002bup.3	+	4	2327	c.2207G>A	c.(2206-2208)aGg>aAg	p.R736K	SYNM_uc002buo.3_Missense_Mutation_p.R736K|SYNM_uc002buq.3_Intron	NM_145728	NP_663780	O15061	SYNEM_HUMAN	Homo sapiens synemin, intermediate filament protein (SYNM), transcript variant A, mRNA.	737	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						CTGAAAGGGAGGGAGGGGAGA	0.537000														6			19		0	0	1	0	0
GPR128	84873	broad.mit.edu	37	3	100352147	100352147	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:100352147C>T	uc003duc.3	+	3	641	c.373C>T	c.(373-375)Cta>Tta	p.L125L	GPR128_uc011bhc.2_5'Flank	NM_032787	NP_116176	Q96K78	GP128_HUMAN	Homo sapiens G protein-coupled receptor 128 (GPR128), mRNA.	125					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						CAGTCTCTCTCTATATGGAGA	0.338000														47			51		0	0	1	0	0
VPS52	6293	broad.mit.edu	37	6	33232210	33232210	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:33232210G>C	uc003odm.1	-	13	1675	c.1465C>G	c.(1465-1467)Cag>Gag	p.Q489E	VPS52_uc003odn.1_Missense_Mutation_p.Q300E	NM_022553	NP_072047	Q8N1B4	VPS52_HUMAN	Homo sapiens vacuolar protein sorting 52 homolog (S. cerevisiae) (VPS52), mRNA.	489					protein transport	Golgi apparatus|endosome membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						CGGACGCTCTGAACATTCATC	0.552000														211			91		0	0	1	0	0
NCAM1	4684	broad.mit.edu	37	11	113131019	113131020	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:113131019_113131020CC>TT	uc021qqp.1	+	16	2543_2544	c.2171_2172CC>TT	c.(2170-2172)acc>aTT	p.T724I	NCAM1_uc001pnp.3_Missense_Mutation_p.T723I|NCAM1_uc021qqo.1_Missense_Mutation_p.T688I|NCAM1_uc001pnq.3_Missense_Mutation_p.T698I|NCAM1_uc001pnr.3_Missense_Mutation_p.T688I|NCAM1_uc001pns.3_Missense_Mutation_p.T82I	NM_001242607	NP_001229536	P13591	NCAM1_HUMAN	Homo sapiens neural cell adhesion molecule 1 (NCAM1), transcript variant 5, mRNA.	702					axon guidance|interferon-gamma-mediated signaling pathway	Golgi membrane|anchored to membrane|extracellular region|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GTGTTCAGGACCTCGGCCCAGC	0.530000														61			26		0	0	1	0	0
OR13C3	138803	broad.mit.edu	37	9	107298474	107298474	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr9:107298474G>A	uc004bcb.1	-	0	621	c.621C>T	c.(619-621)ttC>ttT	p.F207F		NM_001001961	NP_001001961	Q8NGS6	O13C3_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 3 (OR13C3), mRNA.	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						TTTCACATGCGAAATGATTGA	0.428000														31			106		0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33139583	33139583	+	Silent	SNP	T	C	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:33139583T>C	uc003ocx.1	-	41	3285	c.3057A>G	c.(3055-3057)gaA>gaG	p.E1019E	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Silent_p.E933E|COL11A2_uc003ocz.1_Silent_p.E912E	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	1019	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	p.G1018G(1)		biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CTGCACCTCGTTCCCCAGGGG	0.637000														25			8		0	0	1	0	0
C12orf35	55196	broad.mit.edu	37	12	32134230	32134230	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:32134230T>C	uc001rks.3	+	3	755	c.341T>C	c.(340-342)gTt>gCt	p.V114A		NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	Homo sapiens chromosome 12 open reading frame 35 (C12orf35), mRNA.	114										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)			TCTTCAGGAGTTACCCAAAAC	0.418000														53			19		0	0	1	0	0
EME1	146956	broad.mit.edu	37	17	48452995	48452995	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:48452995C>T	uc002iqs.2	+	1	508	c.426C>T	c.(424-426)atC>atT	p.I142I	MRPL27_uc002iqq.3_5'Flank|MRPL27_uc002iqr.2_5'Flank|EME1_uc010dbp.2_Silent_p.I142I	NM_152463	NP_689676	Q96AY2	EME1_HUMAN	Homo sapiens essential meiotic endonuclease 1 homolog 1 (S. pombe) (EME1), transcript variant 2, mRNA.	142					DNA recombination|DNA repair	nucleolus	DNA binding|endonuclease activity|metal ion binding|protein binding			endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	19	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			TTCCAAAGATCCCTGAAGTTC	0.473000								Direct reversal of damage;Homologous recombination						89			66		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141986896	141986896	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:141986896G>A	uc002tvj.1	-	5	1678	c.706C>T	c.(706-708)Cat>Tat	p.H236Y	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	236					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCCAGAGTATGAATTTCATTT	0.303000										TSP Lung(27;0.18)				34			24		0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17483346	17483346	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:17483346C>T	uc001mnc.3	-	4	732	c.606G>A	c.(604-606)agG>agA	p.R202R	ABCC8_uc010rcy.1_Silent_p.R202R	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	202					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			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)	GCTTCACCTCCCTCGGTGTCT	0.577000														37			39		0	0	1	0	0
OR14A16	284532	broad.mit.edu	37	1	247978607	247978607	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:247978607C>T	uc001idm.1	-	0	425	c.425G>A	c.(424-426)aGa>aAa	p.R142K		NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily A, member 16 (OR14A16), mRNA.	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						CACAGTGGCTCTTTGGACACA	0.522000														150			217		0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42473728	42473728	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:42473728C>T	uc002osh.3	-	18	2701	c.2547G>A	c.(2545-2547)atG>atA	p.M849I	ATP1A3_uc010xwf.2_Missense_Mutation_p.M860I|ATP1A3_uc010xwg.2_Missense_Mutation_p.M819I|ATP1A3_uc002osg.3_Missense_Mutation_p.M849I|ATP1A3_uc010xwh.2_Missense_Mutation_p.M862I			P13637	AT1A3_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA.	849					ATP biosynthetic process	Golgi apparatus|endoplasmic reticulum	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						GAGCCTGGATCATTCCTGGAA	0.607000														77			63		0	0	1	0	0
HS6ST3	266722	broad.mit.edu	37	13	97485242	97485242	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr13:97485242C>T	uc001vmw.3	+	1	1230	c.1206C>T	c.(1204-1206)ttC>ttT	p.F402F		NM_153456	NP_703157	Q8IZP7	H6ST3_HUMAN	Homo sapiens heparan sulfate 6-O-sulfotransferase 3 (HS6ST3), mRNA.	402						integral to membrane	sulfotransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					ATCTAAACTTCCTGGACATGC	0.552000														107			64		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3241488	3241488	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:3241488G>A	uc004crg.4	-	4	2395	c.2238C>T	c.(2236-2238)ctC>ctT	p.L746L		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	746						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)				AATGCTTCCAGAGTTTCAGCT	0.428000														53			38		0	0	1	0	0
CRHR1	1394	broad.mit.edu	37	17	43912008	43912008	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:43912008A>T	uc010dap.3	+	13	1478	c.1213A>T	c.(1213-1215)Aag>Tag	p.K405*	CRHR1_uc010wjx.2_Nonsense_Mutation_p.K201*|CRHR1_uc002ijp.3_Silent_p.G229G|CRHR1_uc002ijm.3_Nonsense_Mutation_p.K376*|CRHR1_uc002ijn.3_Nonsense_Mutation_p.K336*|CRHR1_uc010dar.3_Nonsense_Mutation_p.K362*|CRHR1_uc010dao.3_Nonsense_Mutation_p.K275*|CRHR1_uc010daq.3_Nonsense_Mutation_p.K201*|CRHR1_uc021tyu.1_Nonsense_Mutation_p.K187*	NM_001145146	NP_001138618	P34998	CRFR1_HUMAN	Homo sapiens corticotropin releasing hormone receptor 1 (CRHR1), transcript variant 1, mRNA.	405					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	p.V404A(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		TGCCATCCGGAAGAGGTGGCA	0.662000														53			35		0	0	1	0	0
GCFC1	94104	broad.mit.edu	37	21	34131546	34131546	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr21:34131546G>A	uc002yqn.3	-	6	1418	c.1228C>T	c.(1228-1230)Cga>Tga	p.R410*	GCFC1_uc002yqm.3_5'Flank|GCFC1_uc002yqo.3_Non-coding_Transcript|GCFC1_uc002yqp.3_Nonsense_Mutation_p.R410*	NM_016631	NP_057715	Q9Y5B6	GCFC1_HUMAN	Homo sapiens GC-rich sequence DNA-binding factor 1 (GCFC1), transcript variant 1, mRNA.	410						cytosol|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(11)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	39						TGCTGCTGTCGATTTGTTTTG	0.413000														71			49		0	0	1	0	0
EGF	1950	broad.mit.edu	37	4	110884433	110884433	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr4:110884433G>A	uc003hzy.4	+	8	1869	c.1417G>A	c.(1417-1419)Gaa>Aaa	p.E473K	EGF_uc011cfu.2_Missense_Mutation_p.E431K|EGF_uc011cfv.2_Missense_Mutation_p.E473K	NM_001963	NP_001954	P01133	EGF_HUMAN	Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA.	473	EGF-like 4.				DNA replication|angiogenesis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	ACAACTGGATGAAAAAAGCTG	0.433000														118			88		0	0	1	0	0
CASQ1	844	broad.mit.edu	37	1	160160769	160160769	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:160160769G>A	uc010pja.2	+	0	485	c.228G>A	c.(226-228)gaG>gaA	p.E76E		NM_001231	NP_001222	P31415	CASQ1_HUMAN	Homo sapiens calsequestrin 1 (fast-twitch, skeletal muscle) (CASQ1), nuclear gene encoding mitochondrial protein, mRNA.	76						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AACCCCCCGAGGATGACAAGG	0.527000														49			43		0	0	1	0	0
STS	412	broad.mit.edu	37	X	7177764	7177764	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:7177764G>A	uc004cry.4	+	4	1017	c.772G>A	c.(772-774)Gac>Aac	p.D258N		NM_000351	NP_000342	P08842	STS_HUMAN	Homo sapiens steroid sulfatase (microsomal), isozyme S (STS), mRNA.	258					female pregnancy|steroid catabolic process	Golgi apparatus|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	CATGTCCTATGACAATCTCAC	0.507000									Ichthyosis					212			81		0	0	1	0	0
OR51F1	256892	broad.mit.edu	37	11	4790565	4790565	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:4790565G>A	uc010qyl.2	-	0	583	c.583C>T	c.(583-585)Cgg>Tgg	p.R195W		NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 1 (OR51F1), mRNA.	195						integral to membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		CTATTTGCCCGAATGTCTGAA	0.388000														139			86		0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40366799	40366799	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:40366799C>T	uc002rrx.3	-	8	2311	c.2287G>A	c.(2287-2289)Gat>Aat	p.D763N	LOC100128590_uc002rrw.3_Intron|SLC8A1_uc002rry.3_Missense_Mutation_p.D758N|SLC8A1_uc002rsb.2_Missense_Mutation_p.D755N|SLC8A1_uc002rrz.3_Missense_Mutation_p.D750N|SLC8A1_uc002rsa.3_Missense_Mutation_p.D727N|SLC8A1_uc002rsd.4_Missense_Mutation_p.D727N	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	763	Poly-Asp.				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	p.D762D(1)|p.D762N(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CCACATTCATCGTCGTCATCA	0.502000														142			104		0	0	1	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105367305	105367306	+	Missense_Mutation	DNP	CA	GG	GG			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr8:105367305_105367306CA>GG	uc003ylx.1	+	2	1279_1280	c.1230_1231CA>GG	c.(1228-1233)cccagc>ccGGgc	p.S411G		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	Homo sapiens transmembrane 7 superfamily member 4 (TM7SF4), mRNA.	411					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											CTTTCTACCCCAGCGTGGAGAG	0.450000														113			91		0	0	1	0	0
CGNL1	84952	broad.mit.edu	37	15	57837893	57837893	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr15:57837893G>A	uc010bfw.3	+	17	3797	c.3604G>A	c.(3604-3606)Gac>Aac	p.D1202N	CGNL1_uc002aeg.3_Missense_Mutation_p.D1202N	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	1202						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)		TGATCAGAAGGACCAGGTGGG	0.582000														16			11		0	0	1	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138400541	138400541	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:138400541A>G	uc003vuf.3	-	18	2463	c.2225T>C	c.(2224-2226)cTg>cCg	p.L742P	ATP6V0A4_uc003vug.3_Missense_Mutation_p.L742P|ATP6V0A4_uc003vuh.3_Missense_Mutation_p.L742P	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA.	742					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CCAGAGCCGCAGGTAGGAGGC	0.562000														201			4		0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39502882	39502882	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr8:39502882G>A	uc003xni.3	+	10	990	c.935G>A	c.(934-936)gGa>gAa	p.G312E	ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.G288E	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	312	Peptidase M12B.				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)			GGTTTGGAGGGATTTTCGGTT	0.313000														15			49		0	0	1	0	0
OLAH	55301	broad.mit.edu	37	10	15115180	15115180	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr10:15115180G>A	uc001int.2	+	8	1163	c.909G>A	c.(907-909)aaG>aaA	p.K303K	ACBD7_uc010qby.1_Intron|OLAH_uc001inu.2_Silent_p.K250K	NM_018324	NP_060794	Q9NV23	SAST_HUMAN	Homo sapiens oleoyl-ACP hydrolase (OLAH), transcript variant 1, mRNA.	250					fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity			endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						AATTAATCAAGAACTACATAA	0.338000														29			24		0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14543092	14543092	+	Silent	SNP	G	A	A	rs45502401		TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr18:14543092G>A	uc010dln.3	-	0	508	c.54C>T	c.(52-54)ttC>ttT	p.F18F	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	18										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TCCTGAGATCGAATGGCTTCT	0.572000														148			7		0	0	1	0	0
FAM55A	120400	broad.mit.edu	37	11	114401202	114401202	+	Silent	SNP	G	C	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:114401202G>C	uc001ppa.3	-	2	519	c.102C>G	c.(100-102)gtC>gtG	p.V34V	FAM55A_uc010rxd.2_5'UTR|FAM55A_uc001ppb.1_Silent_p.V176V	NM_152315	NP_689528	Q8N323	FA55A_HUMAN	Homo sapiens family with sequence similarity 55, member A (FAM55A), mRNA.	176						extracellular region		p.Q33R(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	17		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;3.02e-06)|Epithelial(105;0.000144)|all cancers(92;0.00106)		GAGACAGGGAGACCTGGCCCT	0.537000														80			32		0	0	1	0	0
OR51B5	282763	broad.mit.edu	37	11	5364490	5364490	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:5364490C>T	uc001map.1	-	0	265	c.265G>A	c.(265-267)Gag>Aag	p.E89K	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Missense_Mutation_p.E89K	NM_001005567	NP_001005567	Q9H339	O51B5_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 5 (OR51B5), transcript variant 1, mRNA.	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTCCAATCTCCCTGTGATCC	0.557000														41			32		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65234479	65234479	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:65234479C>T	uc001xht.3	-	28	6172	c.6121G>A	c.(6121-6123)Gtg>Atg	p.V2041M	SPTB_uc001xhr.3_Missense_Mutation_p.V2041M|SPTB_uc001xhs.3_Missense_Mutation_p.V2041M|SPTB_uc001xhu.3_Missense_Mutation_p.V2041M|SPTB_uc010aqi.3_Missense_Mutation_p.V702M	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	2041					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		ACACTGTCCACTGTGTGTCCA	0.612000														82			63		0	0	1	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169540187	169540187	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:169540187G>A	uc003fgb.3	+	0	478	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 4 (LRRIQ4), mRNA.	160										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						TCTGCCCAAGGAAATAGTGAA	0.502000														66			56		0	0	1	0	0
APOA4	337	broad.mit.edu	37	11	116691697	116691697	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:116691697C>T	uc001pps.1	-	2	1181	c.1077G>A	c.(1075-1077)aaG>aaA	p.K359K		NM_000482	NP_000473			Homo sapiens apolipoprotein A-IV (APOA4), mRNA.											cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		TCTCTTTCTCCTTGAAGGTGC	0.602000														39			33		0	0	1	0	0
EPHA4	2043	broad.mit.edu	37	2	222428631	222428631	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:222428631G>A	uc002vmq.3	-	2	685	c.643C>T	c.(643-645)Cct>Tct	p.P215S	EPHA4_uc002vmr.2_Missense_Mutation_p.P215S|EPHA4_uc010zlm.1_Missense_Mutation_p.P156S	NM_004438	NP_004429	P54764	EPHA4_HUMAN	Homo sapiens EPH receptor A4 (EPHA4), mRNA.	215	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		ATGGTGTCAGGAAACTGGGCC	0.512000														113			76		0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117305614	117305614	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:117305614T>A	uc003vjd.3	+	25	4370	c.4238T>A	c.(4237-4239)tTt>tAt	p.F1413Y	CFTR_uc011knq.2_Missense_Mutation_p.F819Y	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	1413	ABC transporter 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|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)	TGCCAACAATTTTTGGTGAGT	0.343000									Cystic Fibrosis					13			40		0	0	1	0	0
SOWAHD	347454	broad.mit.edu	37	X	118892684	118892684	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:118892684G>A	uc010nql.3	+	0	109	c.54G>A	c.(52-54)ccG>ccA	p.P18P		NM_001105576	NP_001099046	A6NJG2	ANR58_HUMAN	Homo sapiens sosondowah ankyrin repeat domain family member D (SOWAHD), mRNA.	18																	CTCTCGCGCCGACCTCGCAGA	0.741000														24			11		0	0	1	0	0
RBM22	55696	broad.mit.edu	37	5	150072517	150072517	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:150072517G>A	uc003lst.3	-	9	1194	c.1072C>T	c.(1072-1074)Cca>Tca	p.P358S		NM_018047	NP_060517	Q9NW64	RBM22_HUMAN	Homo sapiens RNA binding motif protein 22 (RBM22), mRNA.	358	Pro-rich.				protein import into nucleus, translocation	catalytic step 2 spliceosome|cytoplasm	RNA binding|calcium-dependent protein binding|nucleotide binding|zinc ion binding	p.P358T(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCACAGCTGGAGGACCACTT	0.542000														114			55		0	0	1	0	0
BCAM	4059	broad.mit.edu	37	19	45316556	45316556	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:45316556G>A	uc002ozu.3	+	4	598	c.554G>A	c.(553-555)tGg>tAg	p.W185*	BCAM_uc002ozt.1_Nonsense_Mutation_p.W185*	NM_005581	NP_005572	P50895	BCAM_HUMAN	Homo sapiens basal cell adhesion molecule (Lutheran blood group) (BCAM), transcript variant 1, mRNA.	185	Ig-like V-type 2.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				AAGATCACGTGGTATCGCAAC	0.682000														80			52		0	0	1	0	0
HSPA4L	22824	broad.mit.edu	37	4	128726942	128726942	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr4:128726942G>A	uc003ifm.3	+	9	1491	c.1238G>A	c.(1237-1239)gGa>gAa	p.G413E	HSPA4L_uc010iny.1_Missense_Mutation_p.G372E|HSPA4L_uc011cgr.2_Missense_Mutation_p.G380E	NM_014278	NP_055093	O95757	HS74L_HUMAN	Homo sapiens heat shock 70kDa protein 4-like (HSPA4L), mRNA.	413					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						TTTGAAGATGGAAGTGGGTAA	0.343000														50			44		0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56320494	56320494	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:56320494G>A	uc010ygf.2	-	4	2193	c.1482C>T	c.(1480-1482)ttC>ttT	p.F494F	NLRP11_uc002qlz.3_Silent_p.F395F|NLRP11_uc002qmb.3_Silent_p.F395F|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	494							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		GACCAAAAATGAAAGTAAACA	0.418000														105			66		0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49671911	49671911	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr16:49671911C>T	uc002efs.3	-	4	1450	c.1152G>A	c.(1150-1152)ccG>ccA	p.P384P	ZNF423_uc010vgn.2_Silent_p.P267P	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	Homo sapiens zinc finger protein 423 (ZNF423), mRNA.	384					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				AGGTGGAGTCCGGGGTGGAGC	0.652000														50			29		0	0	1	0	0
OR8H3	390152	broad.mit.edu	37	11	55890167	55890167	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:55890167T>A	uc001nii.1	+	0	319	c.319T>A	c.(319-321)Ttg>Atg	p.L107M		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 3 (OR8H3), mRNA.	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F106L(1)		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)					TTTTGTCTTCTTGGGTACTGC	0.443000														266			250		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11659920	11659920	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:11659920G>A	uc002gne.3	+	33	6842	c.6774G>A	c.(6772-6774)ctG>ctA	p.L2258L	DNAH9_uc010coo.3_Silent_p.L1552L	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2258	AAA 2 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGATTCCTCTGAACCCCACCA	0.577000														214			138		0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109577476	109577476	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:109577476G>A	uc001tob.3	+	1	385	c.266G>A	c.(265-267)aGa>aAa	p.R89K	ACACB_uc001toc.3_Missense_Mutation_p.R89K	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	89					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)	GGTCGGCGGAGAAACTCCCTA	0.632000														76			56		0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17720797	17720797	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:17720797T>G	uc021uqk.1	-	41	4802	c.4760A>C	c.(4759-4761)aAa>aCa	p.K1587T		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.	1588	C2 3.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GTTCTTGGATTTGGTCGCAAA	0.537000														88			58		0	0	1	0	0
BRPF3	27154	broad.mit.edu	37	6	36172574	36172574	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:36172574C>T	uc003olv.4	+	2	1812	c.1588C>T	c.(1588-1590)Caa>Taa	p.Q530*	BRPF3_uc010jwb.3_Nonsense_Mutation_p.Q530*|BRPF3_uc011dtj.2_Non-coding_Transcript|BRPF3_uc010jwc.3_Non-coding_Transcript|BRPF3_uc011dtk.2_Nonsense_Mutation_p.Q530*	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN	Homo sapiens bromodomain and PHD finger containing, 3 (BRPF3), mRNA.	530					histone H3 acetylation|platelet activation|platelet degranulation	MOZ/MORF histone acetyltransferase complex|cytosol|extracellular region	protein binding|zinc ion binding	p.Q530*(2)		breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						TCTGCAGTCCCAAAGAAACGC	0.547000														259			94		0	0	1	0	0
SPTLC3	55304	broad.mit.edu	37	20	12989926	12989926	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr20:12989926C>T	uc002wod.1	+	0	300	c.11C>T	c.(10-12)cCt>cTt	p.P4L	SPTLC3_uc002woc.3_Missense_Mutation_p.P4L	NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 3 (SPTLC3), mRNA.	4					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	p.N3K(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	ATGGCTAACCCTGGAGGTGGT	0.488000														106			73		0	0	1	0	0
PARP14	54625	broad.mit.edu	37	3	122418363	122418363	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:122418363C>T	uc003efq.4	+	5	1021	c.962C>T	c.(961-963)cCa>cTa	p.P321L	PARP14_uc021xdc.1_Missense_Mutation_p.P185L|PARP14_uc010hrk.3_Non-coding_Transcript|PARP14_uc003efr.3_Missense_Mutation_p.P38L|PARP14_uc003efs.1_Missense_Mutation_p.P38L	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 14 (PARP14), mRNA.	321					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		CTTCCAGCACCATTTGAAGAG	0.433000														59			37		0	0	1	0	0
ACSBG1	23205	broad.mit.edu	37	15	78485846	78485846	+	Splice_Site	SNP	A	G	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr15:78485846A>G	uc002bdh.3	-	5	869	c.663_splice	c.e5+1	p.K221_splice	ACSBG1_uc010umx.2_Intron|ACSBG1_uc010umw.2_Splice_Site_p.K217_splice|ACSBG1_uc010umy.2_Splice_Site_p.K114_splice	NM_015162	NP_055977	Q96GR2	ACBG1_HUMAN	Homo sapiens acyl-CoA synthetase bubblegum family member 1 (ACSBG1), transcript variant 1, mRNA.	221					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						TCTTCCCCAAACCTTCAGGAT	0.582000														67			70		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176564612	176564612	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:176564612G>A	uc001gkz.3	+	2	3036	c.1872G>A	c.(1870-1872)agG>agA	p.R624R	PAPPA2_uc001gky.1_Silent_p.R624R|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	624	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.R624S(3)|p.R623H(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGAACCGCAGGGATGGGCTCT	0.597000														62			36		0	0	1	0	0
TGFB3	7043	broad.mit.edu	37	14	76429816	76429816	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:76429816C>T	uc001xsc.2	-	4	1625	c.769G>A	c.(769-771)Gat>Aat	p.D257N	TGFB3_uc001xsd.3_Missense_Mutation_p.D255N	NM_003239	NP_003230	P10600	TGFB3_HUMAN	Homo sapiens transforming growth factor, beta 3 (TGFB3), mRNA.	257					cell growth|cell-cell junction organization|detection of hypoxia|face morphogenesis|in utero embryonic development|induction of apoptosis|lung alveolus development|mammary gland development|menstrual cycle phase|negative regulation of DNA replication|negative regulation of cell proliferation|negative regulation of macrophage cytokine production|negative regulation of neuron apoptosis|odontogenesis|ossification involved in bone remodeling|palate development|platelet activation|platelet degranulation|positive regulation of DNA replication|positive regulation of SMAD protein import into nucleus|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of filopodium assembly|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein secretion|positive regulation of transcription from RNA polymerase II promoter|response to progesterone stimulus|salivary gland morphogenesis|transforming growth factor beta receptor signaling pathway	extracellular matrix|platelet alpha granule lumen	growth factor activity|identical protein binding|transforming growth factor beta binding|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.0169)		CCATGGTCATCCTCATTGTCC	0.562000														122			75		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135405474	135405474	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:135405474G>A	uc004ezu.1	+	4	899	c.608G>A	c.(607-609)gGa>gAa	p.G203E	GPR112_uc010nsb.1_Intron	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	203					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TGTTTAGATGGAAATATAGTT	0.423000														128			81		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183658198	183658198	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr4:183658198C>T	uc003ivd.1	+	15	3280	c.3205C>T	c.(3205-3207)Cag>Tag	p.Q1069*	ODZ3_uc003ive.1_Nonsense_Mutation_p.Q475*	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1069					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		TGCATATAATCAGAAAGTCTA	0.363000														115			73		0	0	1	0	0
PRRT2	112476	broad.mit.edu	37	16	29824868	29824868	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr16:29824868G>A	uc002dud.2	+	1	794	c.493G>A	c.(493-495)Gac>Aac	p.D165N	BOLA2_uc010bzb.1_Intron|AK097472_uc002duc.1_5'Flank|PRRT2_uc002due.4_Missense_Mutation_p.D165N|PRRT2_uc002duf.1_Missense_Mutation_p.D165N|C16orf53_uc002dug.4_5'Flank	NM_145239	NP_660282	Q7Z6L0	PRRT2_HUMAN	Homo sapiens proline-rich transmembrane protein 2 (PRRT2), transcript variant 1, mRNA.	165	Pro-rich.				response to biotic stimulus	integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	8						TACCCAGGAGGACCCCACCCC	0.642000														44			26		0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163291946	163291946	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:163291946C>T	uc002uch.2	-	7	1945	c.1716G>A	c.(1714-1716)gcG>gcA	p.A572A	KCNH7_uc002uci.3_Silent_p.A565A	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	572					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			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)	CATTCCCAATCGCATACCAAA	0.443000														75			43		0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	117993060	117993060	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:117993060C>T	uc001two.2	-	8	1400	c.1345G>A	c.(1345-1347)Gac>Aac	p.D449N		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	478					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTGTTGATGTCACACGGAACG	0.483000														31			34		0	0	1	0	0
ODZ1	10178	broad.mit.edu	37	X	123515034	123515034	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:123515034C>T	uc010nqy.3	-	31	7615	c.7551G>A	c.(7549-7551)ggG>ggA	p.G2517G	ODZ1_uc011muj.2_Silent_p.G2516G|ODZ1_uc004euj.3_Silent_p.G2510G	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	2510					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						TTGGTTGCTTCCCTCCTTCAA	0.448000														149			102		0	0	1	0	0
PBRM1	55193	broad.mit.edu	37	3	52643768	52643768	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:52643768G>A	uc003des.2	-	15	2140	c.2128C>T	c.(2128-2130)Cga>Tga	p.R710*	PBRM1_uc003dex.2_Non-coding_Transcript|PBRM1_uc003deq.2_Nonsense_Mutation_p.R710*|PBRM1_uc003der.2_Nonsense_Mutation_p.R678*|PBRM1_uc003det.2_Nonsense_Mutation_p.R725*|PBRM1_uc003deu.2_Nonsense_Mutation_p.R725*|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Nonsense_Mutation_p.R710*|PBRM1_uc010hmk.1_Nonsense_Mutation_p.R710*|PBRM1_uc003dey.2_Nonsense_Mutation_p.R710*|PBRM1_uc003dez.1_Nonsense_Mutation_p.R710*|PBRM1_uc003dfb.1_Nonsense_Mutation_p.R623*|PBRM1_uc003dfa.1_Nonsense_Mutation_p.R56*|PBRM1_uc003dfc.3_Nonsense_Mutation_p.R77*	NM_181042	NP_060635	Q86U86	PB1_HUMAN	Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA.	710	Bromo 5.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	DNA binding|chromatin binding|protein binding	p.R710*(3)|p.R678*(1)|p.R710fs*13(1)|p.I709T(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ATGTGACTTCGAATTTTTTCC	0.438000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""									22			58		0	0	1	0	0
SOLH	6650	broad.mit.edu	37	16	602523	602524	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr16:602523_602524CC>TT	uc002chi.3	+	10	3093_3094	c.2730_2731CC>TT	c.(2728-2733)gccccc>gcTTcc	p.P911S	SOLH_uc002chj.3_5'UTR	NM_005632	NP_005623	O75808	CAN15_HUMAN	Homo sapiens small optic lobes homolog (Drosophila) (SOLH), mRNA.	911					proteolysis	intracellular	calcium-dependent cysteine-type endopeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Hepatocellular(780;0.00335)				GCACCCCTGCCCCCCAGGGTAC	0.708000														13			12		0	0	1	0	0
FBXO40	51725	broad.mit.edu	37	3	121341214	121341214	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:121341214A>C	uc003eeg.2	+	2	1148	c.938A>C	c.(937-939)cAc>cCc	p.H313P		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	Homo sapiens F-box protein 40 (FBXO40), mRNA.	313					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		TATCTAGTGCACAATGGGCGG	0.488000														110			52		0	0	1	0	0
L3MBTL4	91133	broad.mit.edu	37	18	5969445	5969445	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr18:5969445G>A	uc002kmz.4	-	17	1748	c.1588C>T	c.(1588-1590)Cca>Tca	p.P530S	L3MBTL4_uc002kmy.4_Missense_Mutation_p.P521S|L3MBTL4_uc010dkt.3_Missense_Mutation_p.P530S	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN	Homo sapiens l(3)mbt-like 4 (Drosophila) (L3MBTL4), mRNA.	530					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				GCCACGCCTGGAAGCAACTTG	0.647000														119			87		0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56369832	56369832	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:56369832G>A	uc002qmd.4	+	2	1495	c.1073G>A	c.(1072-1074)gGa>gAa	p.G358E	NLRP4_uc002qmf.3_Missense_Mutation_p.G283E|NLRP4_uc010etf.3_Missense_Mutation_p.G189E	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	358	NACHT.						ATP binding	p.G358R(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		ATGCAGAAAGGAAAAGACCTG	0.512000														48			28		0	0	1	0	0
DSPP	1834	broad.mit.edu	37	4	88533290	88533290	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr4:88533290G>A	uc003hqu.3	+	2	205	c.85G>A	c.(85-87)Gaa>Aaa	p.E29K		NM_014208	NP_055023	Q9NZW4	DSPP_HUMAN	Homo sapiens dentin sialophosphoprotein (DSPP), mRNA.	29					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		GAGACATGTCGAAAAATCCAT	0.368000														47			31		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65267575	65267575	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:65267575C>T	uc001xht.3	-	6	826	c.775G>A	c.(775-777)Gaa>Aaa	p.E259K	SPTB_uc001xhr.3_Missense_Mutation_p.E259K|SPTB_uc001xhs.3_Missense_Mutation_p.E259K|SPTB_uc001xhu.3_Missense_Mutation_p.E259K	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	259	Actin-binding.|CH 2.				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	p.E259K(2)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TCAGGGTTTTCCGTAAAGACA	0.498000											OREG0022735	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		32			17		0	0	1	0	0
RASGEF1C	255426	broad.mit.edu	37	5	179546356	179546356	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:179546356C>T	uc003mlq.3	-	6	1194	c.897G>A	c.(895-897)atG>atA	p.M299I	RASGEF1C_uc003mlr.3_Missense_Mutation_p.M299I|RASGEF1C_uc003mlp.4_Missense_Mutation_p.M148I	NM_175062	NP_778232	Q8N431	RGF1C_HUMAN	Homo sapiens RasGEF domain family, member 1C (RASGEF1C), mRNA.	299	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGATGATGGCCATGAGGGAGT	0.642000														62			46		0	0	1	0	0
SLC25A41	284427	broad.mit.edu	37	19	6433510	6433510	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:6433510G>A	uc010dus.3	-	0	281	c.195C>T	c.(193-195)ctC>ctT	p.L65L	SLC25A41_uc010dut.3_5'UTR	NM_173637	NP_775908	Q8N5S1	S2541_HUMAN	Homo sapiens solute carrier family 25, member 41 (SLC25A41), mRNA.	65					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	6						GCTGTGACGGGAGATGTTCAA	0.602000														101			70		0	0	1	0	0
PANK1	53354	broad.mit.edu	37	10	91404737	91404737	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr10:91404737C>T	uc001kgp.2	-	0	593	c.323G>A	c.(322-324)gGa>gAa	p.G108E	PANK1_uc001kgn.2_5'Flank|PANK1_uc001kgo.2_5'Flank|PANK1_uc009xtu.2_5'Flank	NM_148977	NP_683878	Q8TE04	PANK1_HUMAN	Homo sapiens pantothenate kinase 1 (PANK1), transcript variant alpha, mRNA.	108					coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity			cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11					Bezafibrate(DB01393)	CCCGGATCCTCCCTGCGGCTT	0.736000														2			18		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34182069	34182069	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:34182069C>T	uc001bxm.1	-	19	3211	c.3034G>A	c.(3034-3036)Gaa>Aaa	p.E1012K	CSMD2_uc001bxn.1_Missense_Mutation_p.E972K	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	972	CUB 6.					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)				TGGCCACTTTCCAGGTGGAAG	0.577000														33			26		0	0	1	0	0
LOC649330	649330	broad.mit.edu	37	1	12907852	12907852	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:12907852C>T	uc010obf.2	-	1	517	c.291G>A	c.(289-291)gtG>gtA	p.V97V	LOC649330_uc009vno.2_Silent_p.V97V	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	97							nucleic acid binding|nucleotide binding										CTGATCGTTTCACACCTGCGT	0.493000														206			29		0	0	1	0	0
CCDC47	57003	broad.mit.edu	37	17	61829298	61829298	+	Splice_Site	SNP	A	G	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:61829298A>G	uc002jbs.4	-	12	1707	c.1371_splice	c.e12+1	p.E457_splice	CCDC47_uc010ddx.3_Splice_Site_p.E457_splice|CCDC47_uc002jbt.2_Missense_Mutation_p.V458A	NM_020198	NP_064583	Q96A33	CCD47_HUMAN	Homo sapiens coiled-coil domain containing 47 (CCDC47), mRNA.	457						integral to membrane	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						AGTTTGTCTAACCTCCAGCCT	0.443000														140			96		0	0	1	0	0
RIMKLB	57494	broad.mit.edu	37	12	8866624	8866624	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:8866624G>A	uc001qux.2	+	2	1424	c.162G>A	c.(160-162)gaG>gaA	p.E54E	RIMKLB_uc009zgf.2_Non-coding_Transcript|RIMKLB_uc010sgl.1_Silent_p.E54E|RIMKLB_uc001quw.2_Silent_p.E54E	NM_020734	NP_065785	Q9ULI2	RIMKB_HUMAN	Homo sapiens ribosomal modification protein rimK-like family member B (RIMKLB), mRNA.	54					protein modification process	cytoplasm	ATP binding|acid-amino acid ligase activity|metal ion binding			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TGACAATCGAGCAAGGAAACC	0.403000														64			3		0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189927626	189927626	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:189927626C>T	uc002uqk.3	-	28	2217	c.1942G>A	c.(1942-1944)Ggt>Agt	p.G648S	COL5A2_uc010frx.3_Missense_Mutation_p.G224S	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	648					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCAACTTCACCATCTTTTCCA	0.383000														83			67		0	0	1	0	0
BMP4	652	broad.mit.edu	37	14	54417298	54417298	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:54417298C>T	uc001xal.4	-	2	866	c.679G>A	c.(679-681)Gag>Aag	p.E227K	BMP4_uc010aoh.3_Missense_Mutation_p.E227K|BMP4_uc001xao.4_Missense_Mutation_p.E227K|BMP4_uc001xan.4_Missense_Mutation_p.E227K	NM_130851	NP_570912	P12644	BMP4_HUMAN	Homo sapiens bone morphogenetic protein 4 (BMP4), transcript variant 3, mRNA.	227					BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|SMAD protein signal transduction|activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of MAP kinase activity|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of SMAD protein import into nucleus|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						GGCTGCTTCTCCCGGGTCCAG	0.567000														155			101		0	0	1	0	0
SPTBN2	6712	broad.mit.edu	37	11	66475680	66475680	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:66475680C>T	uc001ojd.3	-	10	1354	c.1282G>A	c.(1282-1284)Gcc>Acc	p.A428T		NM_006946	NP_008877	O15020	SPTN2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 2 (SPTBN2), mRNA.	428					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TCGAAGCGGGCGGCCAGCTGC	0.667000														47			24		0	0	1	0	0
SPDYE5	442590	broad.mit.edu	37	7	75130895	75130895	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:75130895C>T	uc011kfy.2	+	5	906	c.770C>T	c.(769-771)cCg>cTg	p.P257L	DQ601342_uc022agh.1_5'Flank	NM_001099435	NP_001092905	A6NIY4	SPDE5_HUMAN	Homo sapiens speedy homolog E5 (Xenopus laevis) (SPDYE5), mRNA.	257	Arg-rich.																TCCATGAACCCGAGGGCCAGG	0.592000														448			10		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10951282	10951282	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr21:10951282G>A	uc002yip.1	-	9	798	c.430C>T	c.(430-432)Cga>Tga	p.R144*	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Nonsense_Mutation_p.R126*|TPTE_uc002yir.1_Nonsense_Mutation_p.R106*|TPTE_uc010gkv.1_Nonsense_Mutation_p.R6*	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	144			R -> Q (in a breast cancer sample; somatic mutation).		signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.D144Y(2)|p.R126*(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACAAATACTCGAAGAAGAACA	0.358000														80			30		0	0	1	0	0
GPC4	2239	broad.mit.edu	37	X	132440114	132440114	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:132440114C>T	uc004exc.1	-	4	1158	c.946G>A	c.(946-948)Gat>Aat	p.D316N	GPC4_uc011mvg.1_Missense_Mutation_p.D246N	NM_001448	NP_001439	O75487	GPC4_HUMAN	Homo sapiens glypican 4 (GPC4), mRNA.	316					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					ATCTTCACATCGATGGGATCC	0.453000														162			115		0	0	1	0	0
SYNPR	132204	broad.mit.edu	37	3	63542372	63542372	+	Silent	SNP	T	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:63542372T>A	uc003dlp.3	+	3	659	c.363T>A	c.(361-363)atT>atA	p.I121I	SYNPR_uc011bfk.2_Non-coding_Transcript|SYNPR_uc011bfl.2_Intron|SYNPR_uc003dlq.3_Silent_p.I101I|SYNPR_uc010hnt.3_Silent_p.I110I|SYNPR_uc011bfm.2_Intron	NM_001130003	NP_001123475	Q8TBG9	SYNPR_HUMAN	Homo sapiens synaptoporin (SYNPR), transcript variant 1, mRNA.	101	MARVEL.					cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	transporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8				BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904)		TCGTTTACATTTTCTTCCAGA	0.428000														6			15		0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	37311465	37311465	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:37311465C>T	uc022abv.1	-	4	925	c.215G>A	c.(214-216)gGc>gAc	p.G72D	ELMO1_uc011kbc.2_5'UTR|ELMO1_uc003tfk.2_Missense_Mutation_p.G72D|ELMO1_uc010kxg.2_Missense_Mutation_p.G72D	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN	Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.	72					Rac protein signal transduction|actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						AAGGATAGTGCCATTTTTTAT	0.358000														84			34		0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23191529	23191529	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:23191529G>C	uc009vqj.1	+	4	1272	c.1127G>C	c.(1126-1128)gGg>gCg	p.G376A	EPHB2_uc001bge.3_Missense_Mutation_p.G376A|EPHB2_uc001bgf.3_Missense_Mutation_p.G376A|EPHB2_uc010odu.2_Missense_Mutation_p.G376A|MIR4253_uc021oic.1_5'Flank	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	376	Fibronectin type-III 1.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		ACCCGCTGCGGGGACAATGTA	0.637000														70			52		0	0	1	0	0
GRAMD1B	57476	broad.mit.edu	37	11	123480592	123480592	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:123480592C>T	uc001pyw.2	+	12	1668	c.1339C>T	c.(1339-1341)Ccc>Tcc	p.P447S	GRAMD1B_uc001pyx.2_Missense_Mutation_p.P440S|GRAMD1B_uc010rzw.2_Missense_Mutation_p.P400S|GRAMD1B_uc010rzx.1_Missense_Mutation_p.P400S|GRAMD1B_uc009zbe.1_Missense_Mutation_p.P436S|GRAMD1B_uc001pyy.2_Missense_Mutation_p.P131S	NM_020716	NP_065767	Q3KR37	GRM1B_HUMAN	Homo sapiens GRAM domain containing 1B (GRAMD1B), mRNA.	440						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		CCCTCTGGCTCCCAAAACTGC	0.502000														9			7		0	0	1	0	0
PFKFB1	5207	broad.mit.edu	37	X	54984787	54984787	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:54984787G>A	uc004dty.1	-	5	539	c.468C>T	c.(466-468)ttC>ttT	p.F156F	PFKFB1_uc010nkd.1_Intron|PFKFB1_uc011mol.1_Silent_p.F91F	NM_002625	NP_002616	P16118	F261_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 (PFKFB1), mRNA.	156	6-phosphofructo-2-kinase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						TGGACTCAATGAAAAACACCT	0.388000														53			38		0	0	1	0	0
NOMO1	23420	broad.mit.edu	37	16	14951449	14951449	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr16:14951449T>C	uc002dcv.3	+	10	1223	c.1157T>C	c.(1156-1158)tTt>tCt	p.F386S		NM_014287	NP_055102	Q15155	NOMO1_HUMAN	Homo sapiens NODAL modulator 1 (NOMO1), mRNA.	386						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						CACCTCTACTTTGAAACGGTC	0.438000														212			86		0	0	1	0	0
PDE6G	5148	broad.mit.edu	37	17	79620252	79620252	+	Silent	SNP	A	G	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:79620252A>G	uc002kay.3	-	1	228	c.84T>C	c.(82-84)ccT>ccC	p.P28P	PDE6G_uc002kaz.3_Intron	NM_002602	NP_002593	P18545	CNRG_HUMAN	Homo sapiens phosphodiesterase 6G, cGMP-specific, rod, gamma (PDE6G), transcript variant 1, mRNA.	28	Arg/Lys-rich (basic).				platelet activation|visual perception	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|enzyme inhibitor activity			lung(2)|urinary_tract(1)	3	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GCTTAAATTTAGGGGGCCCTT	0.612000														111			78		0	0	1	0	0
SCUBE3	222663	broad.mit.edu	37	6	35199555	35199555	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:35199555A>C	uc003okf.1	+	3	394	c.388A>C	c.(388-390)Atg>Ctg	p.M130L	SCUBE3_uc003okg.1_Missense_Mutation_p.M130L|SCUBE3_uc003okh.1_Missense_Mutation_p.M1L	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 3 (SCUBE3), mRNA.	130	EGF-like 3; calcium-binding (Potential).				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						CTGTGTCAACATGATGGGCAG	0.597000														150			54		0	0	1	0	0
RPSA	3921	broad.mit.edu	37	19	24010594	24010594	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:24010594G>A	uc002nrn.3	+	3	1054	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K		NM_002295	NP_002286	P08865	RSSA_HUMAN	Homo sapiens ribosomal protein SA (RPSA), transcript variant 1, mRNA.	211	Laminin-binding.			E -> G (in Ref. 3; AAB22299).	cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|rRNA export from nucleus|ribosomal small subunit assembly|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane	protein binding|receptor activity|ribosome binding|structural constituent of ribosome			endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		TGAAGAGATTGAAAAAGAAGA	0.532000														20			11		0	0	1	0	0
C9orf106	414318	broad.mit.edu	37	9	132084184	132084184	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr9:132084184C>T	uc004bxs.2	+	1	145	c.92C>T	c.(91-93)cCc>cTc	p.P31L		NM_001012715	NP_001012733	Q8NAJ2	CI106_HUMAN	Homo sapiens chromosome 9 open reading frame 106 (C9orf106), mRNA.	31										large_intestine(1)|lung(1)|ovary(1)|skin(1)	4		Ovarian(14;0.00556)|Medulloblastoma(224;0.235)				cttttctctcccaggcccttg	0.612000														3			8		0	0	1	0	0
ZPBP	11055	broad.mit.edu	37	7	49977200	49977200	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:49977200G>A	uc003tou.3	-	7	1050	c.980C>T	c.(979-981)tCa>tTa	p.S327L	ZPBP_uc010kyw.3_Missense_Mutation_p.S326L	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN	Homo sapiens zona pellucida binding protein (ZPBP), transcript variant 1, mRNA.	327					binding of sperm to zona pellucida	extracellular region				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					GGGGTTATATGATCCAGGGCT	0.353000														124			80		0	0	1	0	0
RBFOX1	54715	broad.mit.edu	37	16	7680645	7680645	+	Silent	SNP	C	T	T	rs147636119	by1000genomes	TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr16:7680645C>T	uc002cys.2	+	10	1705	c.717C>T	c.(715-717)tcC>tcT	p.S239S	RBFOX1_uc010buf.1_Silent_p.S239S|RBFOX1_uc002cyr.1_Silent_p.S238S|RBFOX1_uc002cyt.2_Intron|RBFOX1_uc010uxz.1_Silent_p.S282S|RBFOX1_uc010uya.1_Silent_p.S196S|RBFOX1_uc002cyv.1_Silent_p.S239S|RBFOX1_uc010uyb.1_Silent_p.S239S|RBFOX1_uc002cyw.2_Silent_p.S259S|RBFOX1_uc002cyy.2_Silent_p.S259S|RBFOX1_uc002cyx.2_Silent_p.S259S|RBFOX1_uc010uyc.1_Intron	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 1 (RBFOX1), transcript variant 4, mRNA.	239					RNA splicing|RNA transport|mRNA processing	nucleus|trans-Golgi network	RNA binding|nucleotide binding|protein C-terminus binding	p.S259S(2)|p.S239S(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						AGGGATCTTCCATGTACAGTG	0.483000														67			48		0	0	1	0	0
HLA-DMA	3108	broad.mit.edu	37	6	32917646	32917646	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:32917646A>G	uc003ocm.2	-	2	480	c.394T>C	c.(394-396)Ttc>Ctc	p.F132L	HLA-DMA_uc011dqm.1_3'UTR	NM_006120	NP_006111	Q31604	Q31604_HUMAN	Homo sapiens major histocompatibility complex, class II, DM alpha (HLA-DMA), mRNA.	132						MHC class II protein complex|integral to membrane				kidney(1)|large_intestine(2)|lung(8)	11						TTCAGCGTGAACACTTCAGCG	0.498000														117			47		0	0	1	0	0
HSD11B2	3291	broad.mit.edu	37	16	67470637	67470637	+	Missense_Mutation	SNP	G	A	A	rs147758873		TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr16:67470637G>A	uc002etd.3	+	4	1065	c.949G>A	c.(949-951)Gac>Aac	p.D317N		NM_000196	NP_000187	P80365	DHI2_HUMAN	Homo sapiens hydroxysteroid (11-beta) dehydrogenase 2 (HSD11B2), mRNA.	317					glucocorticoid biosynthetic process	endoplasmic reticulum|microsome				breast(1)|endometrium(1)|liver(2)|lung(3)|upper_aerodigestive_tract(1)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0401)|Epithelial(162;0.0891)	NADH(DB00157)	GGCCATGTCCGACCTCACCCC	0.632000														161			96		0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56467272	56467272	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:56467272C>T	uc002qmh.3	+	2	1919	c.1848C>T	c.(1846-1848)atC>atT	p.I616I	NLRP8_uc010etg.3_Silent_p.I616I	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	616						cytoplasm	ATP binding	p.E615K(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TGCATGAAATCCGGGAGGAAG	0.443000														65			55		0	0	1	0	0
TMSB15B	286527	broad.mit.edu	37	X	103219191	103219191	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:103219191G>A	uc010noz.3	+	1	816	c.96G>A	c.(94-96)aaG>aaA	p.K32K	TMSB15B_uc004elo.4_Non-coding_Transcript|TMSB15B_uc004elq.4_Non-coding_Transcript	NM_194324	NP_919305	P0CG34	TB15A_HUMAN	Homo sapiens thymosin beta 15B (TMSB15B), mRNA.	32					actin cytoskeleton organization|sequestering of actin monomers	cytoplasm|cytoskeleton	actin binding			skin(1)	1						TTCCCTCAAAGGAAAGTAAGT	0.338000														172			22		0	0	1	0	0
SMEK2	57223	broad.mit.edu	37	2	55786039	55786039	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:55786039A>T	uc002rzc.3	-	15	3018	c.2326T>A	c.(2326-2328)Ttc>Atc	p.F776I	SMEK2_uc002rzb.3_Missense_Mutation_p.F691I|SMEK2_uc002rzd.3_Missense_Mutation_p.F744I|SMEK2_uc002ryz.3_Missense_Mutation_p.F203I|SMEK2_uc002rza.3_Missense_Mutation_p.F560I	NM_001122964	NP_001116436	Q5MIZ7	P4R3B_HUMAN	Homo sapiens SMEK homolog 2, suppressor of mek1 (Dictyostelium) (SMEK2), transcript variant 1, mRNA.	776						microtubule organizing center|nucleus	protein binding			kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GAGTGGGAGAAAGTAAATTTG	0.393000														130			105		0	0	1	0	0
LRIG1	26018	broad.mit.edu	37	3	66431077	66431078	+	Missense_Mutation	DNP	CC	TT	TT	rs2279289	byFrequency	TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:66431077_66431078CC>TT	uc003dmx.3	-	17	2992_2993	c.2978_2979GG>AA	c.(2977-2979)ggg>gAA	p.G993E	SLC25A26_uc011bft.2_Non-coding_Transcript|LRIG1_uc011bfu.2_Missense_Mutation_p.G613E|LRIG1_uc003dmw.3_Missense_Mutation_p.G659E|LRIG1_uc010hnz.3_Missense_Mutation_p.G709E|LRIG1_uc010hoa.3_Missense_Mutation_p.G970E	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 1 (LRIG1), mRNA.	993			G -> A (in dbSNP:rs2279289).			integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GGTAGAGCGACCCTTGGCACTC	0.554000														156			101		0	0	1	0	0
GPR141	353345	broad.mit.edu	37	7	37780653	37780653	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:37780653G>A	uc003tfm.1	+	0	658	c.658G>A	c.(658-660)Gag>Aag	p.E220K	BC043356_uc003tfl.3_Intron	NM_181791	NP_861456	Q7Z602	GP141_HUMAN	Homo sapiens G protein-coupled receptor 141 (GPR141), mRNA.	220						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.Q219K(2)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ATCCCACCAGGAGTTCTGGGC	0.423000														134			97		0	0	1	0	0
RASAL1	8437	broad.mit.edu	37	12	113537790	113537790	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:113537790C>T	uc001tun.2	-	21	2666	c.2365G>A	c.(2365-2367)Gag>Aag	p.E789K	RASAL1_uc010syp.2_Missense_Mutation_p.E788K|RASAL1_uc001tul.3_Missense_Mutation_p.E759K|RASAL1_uc001tum.2_Missense_Mutation_p.E787K	NM_001193520	NP_001180449	O95294	RASL1_HUMAN	Homo sapiens RAS protein activator like 1 (GAP1 like) (RASAL1), transcript variant 1, mRNA.	787					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|metal ion binding|phospholipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						TGGAACTCCTCGTGGGCACGA	0.667000														63			51		0	0	1	0	0
ZNF668	79759	broad.mit.edu	37	16	31072478	31072478	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr16:31072478C>A	uc021tgt.1	-	3	2196	c.1840G>T	c.(1840-1842)Gaa>Taa	p.E614*	ZNF668_uc010cag.2_Nonsense_Mutation_p.E591*|ZNF668_uc010caf.3_Nonsense_Mutation_p.E591*|ZNF668_uc002eao.3_Nonsense_Mutation_p.E591*	NM_001172669	NP_078982	Q96K58	ZN668_HUMAN	Homo sapiens zinc finger protein 668 (ZNF668), transcript variant 3, mRNA.	591					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						TGGGTGCGTTCATGCTTGCGC	0.647000														94			76		1.26005e-42	1.27421e-42	1	1	0
PACS2	23241	broad.mit.edu	37	14	105847412	105847412	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:105847412A>G	uc001yqu.3	+	11	1748	c.1244A>G	c.(1243-1245)gAg>gGg	p.E415G	PACS2_uc001yqs.2_Missense_Mutation_p.E340G|PACS2_uc001yqt.3_Missense_Mutation_p.E415G|PACS2_uc001yqv.3_Missense_Mutation_p.E415G	NM_001100913	NP_001094383	Q86VP3	PACS2_HUMAN	Homo sapiens phosphofurin acidic cluster sorting protein 2 (PACS2), transcript variant 1, mRNA.	415					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		ACCAAGACAGAGTCCCTTGTC	0.697000														28			26		0	0	1	0	0
MDFI	4188	broad.mit.edu	37	6	41613917	41613917	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:41613917C>T	uc003oqq.4	+	2	337	c.130C>T	c.(130-132)Cct>Tct	p.P44S	MDFI_uc010jxn.3_Missense_Mutation_p.P44S	NM_005586	NP_005577	Q99750	MDFI_HUMAN	Homo sapiens MyoD family inhibitor (MDFI), mRNA.	44					cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			ATCCACTCACCCTGCGGAGGC	0.622000														109			37		0	0	1	0	0
OR8D2	283160	broad.mit.edu	37	11	124189425	124189425	+	Silent	SNP	A	G	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:124189425A>G	uc010sah.2	-	0	669	c.669T>C	c.(667-669)tcT>tcC	p.S223S		NM_001002918	NP_001002918	Q9GZM6	OR8D2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 2 (OR8D2), mRNA.	223					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)		CAAGGATACTAGAGAAAATGA	0.438000														85			59		0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46826630	46826630	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:46826630G>A	uc003oyo.3	-	16	3299	c.3010C>T	c.(3010-3012)Cct>Tct	p.P1004S	GPR116_uc011dwj.1_Missense_Mutation_p.P559S|GPR116_uc011dwk.1_Missense_Mutation_p.P433S|GPR116_uc003oyp.3_Missense_Mutation_p.P862S|GPR116_uc003oyq.3_Missense_Mutation_p.P1004S|GPR116_uc010jzi.1_Missense_Mutation_p.P676S	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	1004					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P1004L(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			AGAGAACTAGGATCTGGGGAG	0.488000														144			45		0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	107007009	107007009	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr10:107007009C>T	uc001kyi.1	+	21	3252	c.3025C>T	c.(3025-3027)Cct>Tct	p.P1009S	SORCS3_uc010qqz.1_Non-coding_Transcript	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	1009						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)		ATCATTCTCTCCTAATCTGGA	0.438000														8			36		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31325069	31325069	+	Silent	SNP	T	C	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr18:31325069T>C	uc010dmg.1	+	11	5312	c.5257T>C	c.(5257-5259)Tta>Cta	p.L1753L	ASXL3_uc002kxq.2_Silent_p.L1460L	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1753					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						GGTGACGCAGTTACTACAGGG	0.532000														26			31		0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19501449	19501449	+	Splice_Site	SNP	A	G	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:19501449A>G	uc001bbi.3	-	21	2857	c.2853_splice	c.e21+1	p.V951_splice	UBR4_uc001bbm.1_Splice_Site_p.V162_splice	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	951					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TCCTAGTACCACAGAATCAAG	0.433000														94			63		0	0	1	0	0
STON2	85439	broad.mit.edu	37	14	81744849	81744849	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:81744849G>A	uc010tvu.2	-	3	1004	c.806C>T	c.(805-807)tCa>tTa	p.S269L	STON2_uc001xvk.1_Missense_Mutation_p.S269L|STON2_uc010tvt.2_Missense_Mutation_p.S66L	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA.	269					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding	p.N268S(1)		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)		TGATCCCATTGAATTATAAGG	0.453000														106			57		0	0	1	0	0
EVC2	132884	broad.mit.edu	37	4	5630351	5630351	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr4:5630351G>A	uc003gij.3	-	11	1875	c.1821C>T	c.(1819-1821)acC>acT	p.T607T	EVC2_uc003gik.3_Silent_p.T527T|EVC2_uc011bwb.2_Silent_p.T47T	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	Homo sapiens Ellis van Creveld syndrome 2 (EVC2), transcript variant 1, mRNA.	607						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						CCTGCACACGGGTCTCTGATG	0.502000														84			55		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24921187	24921187	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr15:24921187G>A	uc001ywo.3	+	0	647	c.173G>A	c.(172-174)aGg>aAg	p.R58K		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	58					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)		GCCCGTCGCAGGCCTTCAGCA	0.746000														48			34		0	0	1	0	0
PAN3	255967	broad.mit.edu	37	13	28830607	28830607	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr13:28830607C>T	uc001urz.3	+	6	1331	c.1179C>T	c.(1177-1179)atC>atT	p.I393I	PAN3_uc010tdo.1_Silent_p.I393I|PAN3_uc001ury.3_Silent_p.I81I|PAN3_uc001urx.3_Silent_p.I193I	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	Homo sapiens PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN3), mRNA.	393	Interaction with polyadenylate-binding protein.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		GTCAGGTGATCCAAAAGGAAA	0.423000														54			51		0	0	1	0	0
IKBKAP	8518	broad.mit.edu	37	9	111640356	111640356	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr9:111640356G>A	uc004bdm.4	-	34	4294	c.3774C>T	c.(3772-3774)gcC>gcT	p.A1258A	IKBKAP_uc004bdl.3_Silent_p.A909A|IKBKAP_uc011lwc.2_Silent_p.A1144A|IKBKAP_uc010mtq.3_Silent_p.A909A|IKBKAP_uc004bdk.3_Silent_p.A262A|IKBKAP_uc010mtp.3_Non-coding_Transcript	NM_003640	NP_003631	O95163	ELP1_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein (IKBKAP), mRNA.	1258					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						TATCTTCAAAGGCCTTCTGTA	0.398000														11			53		0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108188969	108188969	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:108188969C>T	uc003dxa.1	-	14	1591	c.1534G>A	c.(1534-1536)Gaa>Aaa	p.E512K		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	512	Myosin head-like.					myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TTCTTATATTCCTCTTGCTCC	0.338000														48			33		0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56466505	56466505	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:56466505G>A	uc002qmh.3	+	2	1152	c.1081G>A	c.(1081-1083)Gaa>Aaa	p.E361K	NLRP8_uc010etg.3_Missense_Mutation_p.E361K	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	361	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TAATACGATGGAAAAAATCAA	0.463000														112			84		0	0	1	0	0
TRPC6	7225	broad.mit.edu	37	11	101374903	101374903	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:101374903G>A	uc001pgk.4	-	1	1222	c.797C>T	c.(796-798)tCg>tTg	p.S266L	TRPC6_uc009ywy.3_Missense_Mutation_p.S266L|TRPC6_uc009ywz.1_Missense_Mutation_p.S266L	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA.	266					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		GTGGCTAAACGAGTCATGCTT	0.468000														150			116		0	0	1	0	0
BV13S6J2.1	0	broad.mit.edu	37	7	142250914	142250914	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:142250914C>T	uc011ksf.2	-	1	148	c.133G>A	c.(133-135)Gat>Aat	p.D45N	TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron|BV13S6J2.1_uc022ano.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		TGTCTCATATCCTGGGTACAT	0.498000														59			33		0	0	1	0	0
FLT3	2322	broad.mit.edu	37	13	28578206	28578206	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr13:28578206G>A	uc001urw.3	-	23	3047	c.2965C>T	c.(2965-2967)Cag>Tag	p.Q989*	FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Nonsense_Mutation_p.Q948*	NM_004119	NP_004110	P36888	FLT3_HUMAN	Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA.	989					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	TCTTCGACCTGAGCCTGCGGA	0.458000			"""Mis, O"""		"""AML, ALL"""									86			46		0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	154112300	154112300	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:154112300C>T	uc001fdw.3	-	4	767	c.695G>A	c.(694-696)cGa>cAa	p.R232Q	NUP210L_uc010peh.2_Missense_Mutation_p.R232Q	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	232						integral to membrane		p.R232*(1)		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)			TTCATGAATTCGAACTTTTAC	0.368000														289			199		0	0	1	0	0
OR6C68	403284	broad.mit.edu	37	12	55886157	55886157	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:55886157C>T	uc010spo.2	+	0	11	c.11C>T	c.(10-12)tCa>tTa	p.S4L		NM_001005519	NP_001005519	A6NDL8	O6C68_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 68 (OR6C68), mRNA.	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						ATGCAGAAGTCAGTAATGAGA	0.368000														73			70		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2622040	2622040	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:2622040A>T	uc009zdu.1	+	8	1593	c.1280A>T	c.(1279-1281)aAg>aTg	p.K427M	CACNA1C_uc001qkc.2_Missense_Mutation_p.K427M|CACNA1C_uc001qjz.2_Missense_Mutation_p.K427M|CACNA1C_uc001qkd.2_Missense_Mutation_p.K427M|CACNA1C_uc001qke.2_Missense_Mutation_p.K427M|CACNA1C_uc001qkf.2_Missense_Mutation_p.K427M|CACNA1C_uc009zdw.1_Missense_Mutation_p.K427M|CACNA1C_uc001qkg.2_Missense_Mutation_p.K427M|CACNA1C_uc001qkh.2_Missense_Mutation_p.K427M|CACNA1C_uc001qkl.2_Missense_Mutation_p.K427M|CACNA1C_uc001qkj.2_Missense_Mutation_p.K427M|CACNA1C_uc001qkk.2_Missense_Mutation_p.K427M|CACNA1C_uc001qkn.2_Missense_Mutation_p.K427M|CACNA1C_uc001qkm.2_Missense_Mutation_p.K427M|CACNA1C_uc001qko.2_Missense_Mutation_p.K427M|CACNA1C_uc001qkp.2_Missense_Mutation_p.K427M|CACNA1C_uc001qkq.2_Missense_Mutation_p.K427M|CACNA1C_uc001qku.2_Missense_Mutation_p.K427M|CACNA1C_uc001qkr.2_Missense_Mutation_p.K427M|CACNA1C_uc001qks.2_Missense_Mutation_p.K427M|CACNA1C_uc001qkt.2_Missense_Mutation_p.K427M|CACNA1C_uc009zdv.1_Missense_Mutation_p.K424M|CACNA1C_uc001qkb.2_Missense_Mutation_p.K427M|CACNA1C_uc001qka.1_Intron|CACNA1C_uc001qki.1_Missense_Mutation_p.K163M|CACNA1C_uc009zdy.1_Missense_Mutation_p.K52M|CACNA1C_uc001qkv.1_5'UTR	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	427					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)	CTGCGGGAGAAGCAGCAGCTA	0.557000														19			20		0	0	1	0	0
ZNF280C	55609	broad.mit.edu	37	X	129370283	129370283	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:129370283A>G	uc004evm.3	-	7	879	c.676T>C	c.(676-678)Tca>Cca	p.S226P	ZNF280C_uc010nrf.2_Missense_Mutation_p.S226P	NM_017666	NP_060136	Q8ND82	Z280C_HUMAN	Homo sapiens zinc finger protein 280C (ZNF280C), mRNA.	226	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						TATGGAGATGAGGTATTTGTA	0.318000														71			54		0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108112888	108112888	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:108112888G>A	uc003dxa.1	-	36	5366	c.5309C>T	c.(5308-5310)gCa>gTa	p.A1770V		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	1770						myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CTCAATGGCTGCCTTCTTGGC	0.547000														99			58		0	0	1	0	0
SLC1A3	6507	broad.mit.edu	37	5	36608580	36608580	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:36608580C>T	uc003jkj.4	+	1	531	c.55C>T	c.(55-57)Cag>Tag	p.Q19*	SLC1A3_uc021xxn.1_Nonsense_Mutation_p.Q19*|SLC1A3_uc011cox.2_5'UTR|SLC1A3_uc010iuy.3_Nonsense_Mutation_p.Q19*	NM_004172	NP_004163	P43003	EAA1_HUMAN	Homo sapiens solute carrier family 1 (glial high affinity glutamate transporter), member 3 (SLC1A3), transcript variant 1, mRNA.	19					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	GGAGAGATTCCAGCAGGGAGT	0.448000														106			74		0	0	1	0	0
CD2	914	broad.mit.edu	37	1	117311323	117311323	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:117311323G>A	uc001egu.4	+	4	1003	c.974G>A	c.(973-975)gGc>gAc	p.G325D		NM_001767	NP_001758	P06729	CD2_HUMAN	Homo sapiens CD2 molecule (CD2), mRNA.	325	Pro-rich.				T cell activation|blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	CAGCAGAAAGGCCCGCCCCTC	0.567000														132			78		0	0	1	0	0
KCNJ15	3772	broad.mit.edu	37	21	39671339	39671339	+	Silent	SNP	A	G	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr21:39671339A>G	uc021wjc.1	+	0	156	c.156A>G	c.(154-156)caA>caG	p.Q52Q	KCNJ15_uc002ywv.3_Silent_p.Q52Q|KCNJ15_uc002yww.3_Silent_p.Q52Q|KCNJ15_uc002ywx.3_Silent_p.Q52Q	NM_170737	NP_733933	Q99712	IRK15_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 15 (KCNJ15), transcript variant 3, mRNA.	52					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						TCTACCTGCAAGACCTGTGGA	0.507000														177			13		0	0	1	0	0
OR5M3	219482	broad.mit.edu	37	11	56237851	56237851	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:56237851G>A	uc010rjk.2	-	0	164	c.123C>T	c.(121-123)atC>atT	p.I41I	OR8U8_uc001nit.2_Intron	NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 3 (OR5M3), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					CCATCATGCCGATATTGCCCA	0.438000														110			80		0	0	1	0	0
ADAR	103	broad.mit.edu	37	1	154558739	154558739	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:154558739G>A	uc001ffh.3	-	11	3362	c.3120C>T	c.(3118-3120)atC>atT	p.I1040I	ADAR_uc021pag.1_Silent_p.I745I|ADAR_uc001ffj.3_Silent_p.I995I|ADAR_uc001ffi.3_Silent_p.I1014I|ADAR_uc001ffk.3_Silent_p.I745I	NM_001111	NP_001180424	P55265	DSRAD_HUMAN	Homo sapiens adenosine deaminase, RNA-specific (ADAR), transcript variant 1, mRNA.	1040	A to I editase.				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding	p.K1039R(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TCCAGCGTAGGATTTTGTCAC	0.552000														87			81		0	0	1	0	0
INF2	64423	broad.mit.edu	37	14	105176039	105176039	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:105176039C>T	uc001ypb.2	+	11	2278	c.2135C>T	c.(2134-2136)cCc>cTc	p.P712L	INF2_uc001ypc.2_Missense_Mutation_p.P712L|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.	712	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)		CTGGCCATTCCCTGGTGAGCA	0.652000														96			72		0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10298450	10298450	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:10298450C>T	uc002gmm.2	-	34	5057	c.4962_splice	c.e34+1	p.K1654_splice	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1654					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						ACCCGTTTACCTTCAGGATTC	0.443000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					199			139		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33916138	33916138	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr15:33916138G>A	uc001zhi.3	+	19	2558	c.2488G>A	c.(2488-2490)Gat>Aat	p.D830N	RYR3_uc010bar.3_Missense_Mutation_p.D830N	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	830					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.R829H(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ATATAAACGTGATGCTGATGG	0.478000														146			64		0	0	1	0	0
LRIT3	345193	broad.mit.edu	37	4	110790880	110790880	+	Silent	SNP	T	C	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr4:110790880T>C	uc003hzx.4	+	2	1033	c.840T>C	c.(838-840)gaT>gaC	p.D280D	LRIT3_uc003hzw.4_Silent_p.D142D	NM_198506	NP_940908	Q3SXY7	LRIT3_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 (LRIT3), mRNA.	280	Ig-like.					integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		ACGCTGGGGATTACAAATGTA	0.438000														69			61		0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11561905	11561905	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:11561905G>A	uc001ash.4	+	1	994	c.856G>A	c.(856-858)Gag>Aag	p.E286K	PTCHD2_uc001asi.1_Missense_Mutation_p.E286K	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	286					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CGGCGACGCGGAGCGCAACAT	0.637000														17			14		0	0	1	0	0
UGT2A3	79799	broad.mit.edu	37	4	69796437	69796437	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr4:69796437C>T	uc003hef.2	-	4	1162	c.1131G>A	c.(1129-1131)ggG>ggA	p.G377G	UGT2A3_uc010ihp.1_Non-coding_Transcript	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.	377						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CTTCATAGATCCCATTCATTC	0.393000														35			35		0	0	1	0	0
LEPR	3953	broad.mit.edu	37	1	66102394	66102394	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:66102394G>A	uc001dci.3	+	19	3583	c.3194G>A	c.(3193-3195)gGa>gAa	p.G1065E	LEPR_uc009waq.3_3'UTR	NM_002303	NP_002294	P48357	LEPR_HUMAN	Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA.	1065					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		AAATTGGAGGGAAATTTCCCT	0.373000														133			77		0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10304939	10304939	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:10304939G>A	uc002gmm.2	-	22	2947	c.2852C>T	c.(2851-2853)tCa>tTa	p.S951L	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	951					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CTTGAGTTCTGAACATTCATC	0.443000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					307			220		0	0	1	0	0
CTCFL	140690	broad.mit.edu	37	20	56073659	56073659	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr20:56073659C>T	uc010giw.1	-	10	2050	c.1939G>A	c.(1939-1941)Gaa>Aaa	p.E647K	CTCFL_uc010gix.1_Missense_Mutation_p.E647K|CTCFL_uc002xym.2_Missense_Mutation_p.E647K|CTCFL_uc010gjb.1_Missense_Mutation_p.E647K|CTCFL_uc010gja.1_Missense_Mutation_p.E597K|CTCFL_uc010gjc.1_Missense_Mutation_p.E647K|CTCFL_uc010gjd.1_Missense_Mutation_p.E647K|CTCFL_uc010giu.3_Non-coding_Transcript|CTCFL_uc010giv.3_Intron	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein)-like (CTCFL), mRNA.	647					DNA methylation involved in gamete generation|cell cycle|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	p.E646Q(1)		NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			TCATCCACTTCCTCTTTGACT	0.527000														127			91		0	0	1	0	0
OR4D9	390199	broad.mit.edu	37	11	59282982	59282982	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:59282982G>T	uc010rkv.2	+	0	597	c.597G>T	c.(595-597)atG>atT	p.M199I		NM_001004711	NP_001004711	Q8NGE8	OR4D9_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 9 (OR4D9), mRNA.	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						AGCTCCTGATGATTTCAAATA	0.468000														117			113		2.73796e-65	2.77392e-65	1	1	0
ADRA2B	151	broad.mit.edu	37	2	96781075	96781075	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:96781075G>A	uc021vlh.1	-	0	814	c.814C>T	c.(814-816)Ccc>Tcc	p.P272S		NM_000682	NP_000673	P18089	ADA2B_HUMAN	Homo sapiens adrenergic, alpha-2B-, receptor (ADRA2B), mRNA.	272					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	GCCCAACTGGGTGGCAAGGCC	0.617000														20			11		0	0	1	0	0
CMBL	134147	broad.mit.edu	37	5	10282332	10282332	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:10282332C>T	uc003jes.3	-	4	986	c.535G>A	c.(535-537)Gat>Aat	p.D179N		NM_138809	NP_620164	Q96DG6	CMBL_HUMAN	Homo sapiens carboxymethylenebutenolidase homolog (Pseudomonas) (CMBL), mRNA.	179						cytosol	hydrolase activity|protein binding			endometrium(1)|large_intestine(1)|lung(9)|skin(1)|stomach(1)	13						ATCACAACATCATTTTCAGCA	0.403000														56			47		0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145427372	145427372	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:145427372A>C	uc003lnt.3	+	5	1335	c.1097A>C	c.(1096-1098)cAt>cCt	p.H366P	SH3RF2_uc011dbl.1_Missense_Mutation_p.H366P|SH3RF2_uc011dbm.1_5'Flank|SH3RF2_uc003lnu.3_5'Flank	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	366							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCTCCAGGACATTCCACAGCC	0.557000														94			62		0	0	1	0	0
ZNF311	282890	broad.mit.edu	37	6	28963443	28963443	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:28963443G>A	uc003nlu.2	-	6	1847	c.1336C>T	c.(1336-1338)Ccc>Tcc	p.P446S	ZNF311_uc011dlk.1_Missense_Mutation_p.P354S|ZNF311_uc003nlv.2_Missense_Mutation_p.P354S	NM_001010877	NP_001010877	Q5JNZ3	ZN311_HUMAN	Homo sapiens zinc finger protein 311 (ZNF311), mRNA.	446					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						CCACACTGGGGACACCCATAG	0.498000														150			60		0	0	1	0	0
ATP11A	23250	broad.mit.edu	37	13	113470398	113470398	+	Splice_Site	SNP	T	C	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr13:113470398T>C	uc001vsj.4	+	6	530	c.442_splice	c.e6-1	p.V148_splice	ATP11A_uc001vsi.4_Splice_Site_p.V148_splice|ATP11A_uc001vsm.1_Splice_Site_p.V24_splice	NM_032189	NP_115565	P98196	AT11A_HUMAN	Homo sapiens ATPase, class VI, type 11A (ATP11A), transcript variant 2, mRNA.	148					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.V148A(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				GTCCTGTAGGTTGGGGACATT	0.557000														83			64		0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51171035	51171035	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr16:51171035G>A	uc021tif.1	-	2	3994	c.3672C>T	c.(3670-3672)atC>atT	p.I1224I	SALL1_uc021tid.1_3'UTR|SALL1_uc021tie.1_3'UTR|SALL1_uc010cbv.3_Silent_p.I173I	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	1321					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I1321I(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AACTCGTGACGATCTCCTTGC	0.592000														61			43		0	0	1	0	0
BOD1L1	259282	broad.mit.edu	37	4	13604735	13604735	+	Silent	SNP	T	C	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr4:13604735T>C	uc003gmz.1	-	9	3906	c.3789A>G	c.(3787-3789)gaA>gaG	p.E1263E	BOD1L1_uc010idr.1_Silent_p.E600E	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	Homo sapiens biorientation of chromosomes in cell division 1-like (BOD1L), mRNA.	1263							DNA binding										GAGCAACATGTTCTTCAGCAG	0.403000														25			13		0	0	1	0	0
GLRB	2743	broad.mit.edu	37	4	158041767	158041767	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr4:158041767A>G	uc003ipj.2	+	2	384	c.182A>G	c.(181-183)aAc>aGc	p.N61S	GLRB_uc021xtp.1_Missense_Mutation_p.N61S|GLRB_uc021xtq.1_Missense_Mutation_p.N61S	NM_000824	NP_001159532	P48167	GLRB_HUMAN	Homo sapiens glycine receptor, beta (GLRB), transcript variant 1, mRNA.	61					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity	p.N61I(2)		central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	AATATCTTGAACAGGTTATTG	0.358000														138			79		0	0	1	0	0
IL18RAP	8807	broad.mit.edu	37	2	103040339	103040339	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:103040339G>A	uc002tbx.3	+	3	623	c.139G>A	c.(139-141)Gat>Aat	p.D47N	IL18RAP_uc010fiz.3_Intron	NM_003853	NP_003844	O95256	I18RA_HUMAN	Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.	47					cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						CTTATTTTGTGATTTACCAGA	0.398000														33			26		0	0	1	0	0
VCAM1	7412	broad.mit.edu	37	1	101188810	101188810	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:101188810T>C	uc001dti.3	+	2	796	c.575T>C	c.(574-576)gTt>gCt	p.V192A	VCAM1_uc010ouj.2_Missense_Mutation_p.V130A|VCAM1_uc001dtj.3_Missense_Mutation_p.V192A	NM_001078	NP_001069	P19320	VCAM1_HUMAN	Homo sapiens vascular cell adhesion molecule 1 (VCAM1), transcript variant 1, mRNA.	192	Ig-like C2-type 2.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	ATTGGAAAAGTTCTTGTTTGC	0.418000														77			49		0	0	1	0	0
COL8A1	1295	broad.mit.edu	37	3	99513943	99513943	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:99513943C>T	uc003dti.1	+	2	1329	c.1201C>T	c.(1201-1203)Cct>Tct	p.P401S	MIR548G_uc021xbq.1_Intron|COL8A1_uc003dtg.1_Missense_Mutation_p.P400S|COL8A1_uc003dth.1_Missense_Mutation_p.P400S	NM_020351	NP_065084	P27658	CO8A1_HUMAN	Homo sapiens collagen, type VIII, alpha 1 (COL8A1), transcript variant 2, mRNA.	400	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						AATCCCAGGTCCTATGGGCCC	0.612000														16			18		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39008006	39008006	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:39008006G>A	uc002oit.3	+	65	9823	c.9693G>A	c.(9691-9693)ggG>ggA	p.G3231G	RYR1_uc002oiu.3_Silent_p.G3231G|RYR1_uc002oiv.1_Silent_p.G151G|RYR1_uc010xuf.1_Silent_p.G151G	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	3231					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)	CAGTCCTGGGGCTCCCCAACA	0.637000														59			58		0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94376999	94376999	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr4:94376999C>T	uc011cdt.2	+	10	1990	c.1732C>T	c.(1732-1734)Ctt>Ttt	p.L578F	GRID2_uc011cdu.2_Missense_Mutation_p.L483F	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	578					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			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)	TGGCACAGTCCTTCTGGTGGG	0.478000														132			104		0	0	1	0	0
KIF26A	26153	broad.mit.edu	37	14	104642884	104642884	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:104642884G>A	uc001yos.4	+	11	3759	c.3759G>A	c.(3757-3759)caG>caA	p.Q1253Q		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	Homo sapiens kinesin family member 26A (KIF26A), mRNA.	1253					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		GTGATACCCAGGCAGCTTCTG	0.692000														63			54		0	0	1	0	0
FAM45A	404636	broad.mit.edu	37	X	129629232	129629232	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:129629232T>A	uc010nrh.3	+	0	318	c.100T>A	c.(100-102)Tcc>Acc	p.S34T	BC043223_uc004evu.3_Intron	NM_207009	NP_996892	Q8TCE6	FA45A_HUMAN	Homo sapiens family with sequence similarity 45, member A (FAM45A), mRNA.	34										breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	14		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0293)		GTGTTATCCTTCCACGACAGC	0.498000														85			59		0	0	1	0	0
SPATA20	64847	broad.mit.edu	37	17	48632654	48632654	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:48632654C>T	uc002ird.3	+	15	2360	c.2219C>T	c.(2218-2220)tCt>tTt	p.S740F	SPATA20_uc002irc.3_Missense_Mutation_p.S391F|SPATA20_uc002ire.3_Missense_Mutation_p.S680F|SPATA20_uc002irf.3_Missense_Mutation_p.S724F|SPATA20_uc002irg.3_Non-coding_Transcript	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	Homo sapiens spermatogenesis associated 20 (SPATA20), mRNA.	724					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding	p.H739Q(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			TGCGTCCACTCTGTCTACATT	0.587000														45			34		0	0	1	0	0
CCRL2	9034	broad.mit.edu	37	3	46449977	46449977	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:46449977G>A	uc010hjg.3	+	1	556	c.443G>A	c.(442-444)gGa>gAa	p.G148E	CCRL2_uc003cpp.4_Missense_Mutation_p.G136E|CCRL2_uc010hjf.3_Missense_Mutation_p.G136E|CCRL2_uc021wxc.1_Missense_Mutation_p.G136E	NM_001130910	NP_003956	O00421	CCRL2_HUMAN	Homo sapiens chemokine (C-C motif) receptor-like 2 (CCRL2), transcript variant 2, mRNA.	136					chemotaxis|inflammatory response	integral to plasma membrane	CCR chemokine receptor binding|chemokine receptor activity			lung(3)|ovary(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)		TTGCACAAGGGAAACTTTTTC	0.468000														23			81		0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20696554	20696554	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr16:20696554G>A	uc002dhm.1	-	1	432	c.364C>T	c.(364-366)Cct>Tct	p.P122S	ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Missense_Mutation_p.P122S	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	122					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						CACCACTCAGGAACTCGAGGC	0.587000														100			57		0	0	1	0	0
SPATA18	132671	broad.mit.edu	37	4	52928427	52928427	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr4:52928427G>A	uc003gzl.3	+	3	629	c.351G>A	c.(349-351)cgG>cgA	p.R117R	SPATA18_uc010igl.1_Non-coding_Transcript|SPATA18_uc011bzq.2_Silent_p.R117R|SPATA18_uc003gzk.1_Silent_p.R117R	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	Homo sapiens spermatogenesis associated 18 (SPATA18), mRNA.	117					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			CCAGTCCTCGGGATCGGGATA	0.393000														119			70		0	0	1	0	0
GPR50	9248	broad.mit.edu	37	X	150349588	150349588	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:150349588C>T	uc010ntg.2	+	1	1671	c.1533C>T	c.(1531-1533)agC>agT	p.S511S		NM_004224	NP_004215	Q13585	MTR1L_HUMAN	Homo sapiens G protein-coupled receptor 50 (GPR50), mRNA.	511	Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CAGCTACCAGCCATGCTGAGC	0.612000														160			199		0	0	1	0	0
MAPK4	5596	broad.mit.edu	37	18	48190730	48190730	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr18:48190730C>T	uc002lev.3	+	1	1402	c.402C>T	c.(400-402)ctC>ctT	p.L134L	MAPK4_uc010xdm.2_Intron|MAPK4_uc010doz.3_Silent_p.L134L	NM_002747	NP_002738	P31152	MK04_HUMAN	Homo sapiens mitogen-activated protein kinase 4 (MAPK4), mRNA.	134	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		ACCAGCTGCTCCGCGGGCTCA	0.602000														61			55		0	0	1	0	0
EML4	27436	broad.mit.edu	37	2	42508004	42508004	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:42508004A>G	uc002rsi.3	+	6	944	c.682A>G	c.(682-684)Aaa>Gaa	p.K228E	EML4_uc010fap.3_Missense_Mutation_p.K170E	NM_019063	NP_061936	Q9HC35	EMAL4_HUMAN	Homo sapiens echinoderm microtubule associated protein like 4 (EML4), transcript variant 1, mRNA.	228					microtubule-based process|mitosis	cytoplasm|microtubule	protein binding		EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						AGAATATATTAAAATGTTTAT	0.358000			T	ALK	NSCLC									26			23		0	0	1	0	0
CBX6	23466	broad.mit.edu	37	22	39262668	39262668	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr22:39262668G>A	uc003awl.3	-	4	848	c.785C>T	c.(784-786)gCc>gTc	p.A262V		NM_014292	NP_055107	O95503	CBX6_HUMAN	Homo sapiens chromobox homolog 6 (CBX6), mRNA.	262					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(58;0.04)					GGCGGGGGCGGCCAGAAGTAG	0.741000														3			31		0	0	1	0	0
FOXN1	8456	broad.mit.edu	37	17	26864179	26864179	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:26864179C>T	uc010crm.3	+	8	1870	c.1672C>T	c.(1672-1674)Ccc>Tcc	p.P558S	FOXN1_uc002hbj.3_Missense_Mutation_p.P558S	NM_003593	NP_003584	O15353	FOXN1_HUMAN	Homo sapiens forkhead box N1 (FOXN1), mRNA.	558					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					GGCCCTCGACCCCCTGGTACT	0.602000														116			97		0	0	1	0	0
SLC4A1	6521	broad.mit.edu	37	17	42330613	42330614	+	Missense_Mutation	DNP	GG	AA	AA	rs150858709		TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:42330613_42330614GG>AA	uc002igf.4	-	16	2332_2333	c.2183_2184CC>TT	c.(2182-2184)acc>aTT	p.T728I	SLC4A1_uc021tyc.1_Missense_Mutation_p.T362I	NM_000342	NP_000333	P02730	B3AT_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA.	728	Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	Z disc|basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	p.T728T(2)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CGGAACGCACGGTGGTGGCACT	0.639000														62			52		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34209054	34209054	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:34209054G>A	uc001bxm.1	-	13	2177	c.2000C>T	c.(1999-2001)cCt>cTt	p.P667L	CSMD2_uc001bxn.1_Missense_Mutation_p.P627L	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	627	CUB 4.					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)				ATCAAACTGAGGCTCCACGTC	0.597000														113			74		0	0	1	0	0
RXFP1	59350	broad.mit.edu	37	4	159572931	159572931	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr4:159572931G>A	uc003ipz.3	+	17	2261	c.1998G>A	c.(1996-1998)gtG>gtA	p.V666V	RXFP1_uc010iqk.3_Silent_p.V534V|RXFP1_uc011cja.2_Silent_p.V561V|RXFP1_uc010iqo.3_Silent_p.V618V|RXFP1_uc011cjb.2_Silent_p.V564V|RXFP1_uc011cjc.2_Silent_p.V585V|RXFP1_uc011cjd.2_Silent_p.V585V|RXFP1_uc010iql.3_Silent_p.V510V|RXFP1_uc011cje.2_Silent_p.V693V|RXFP1_uc010iqm.3_Silent_p.V633V|RXFP1_uc011cjf.2_Silent_p.V535V|RXFP1_uc010iqn.3_Silent_p.V611V	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA.	666						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		CTTGGGTAGTGATTTTTATTC	0.328000														48			39		0	0	1	0	0
OR5B3	441608	broad.mit.edu	37	11	58170229	58170229	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:58170229G>A	uc010rkf.2	-	0	654	c.654C>T	c.(652-654)ttC>ttT	p.F218F		NM_001005469	NP_001005469	Q8NH48	OR5B3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 3 (OR5B3), mRNA.	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TGATAAAAATGAATGTGTAGG	0.398000														37			28		0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21141554	21141554	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr10:21141554C>T	uc001iqi.3	-	9	1325	c.928G>A	c.(928-930)Gaa>Aaa	p.E310K	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	310					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CCTTTGTTTTCCTCAAAGAGC	0.383000														29			18		0	0	1	0	0
COL4A6	1288	broad.mit.edu	37	X	107418389	107418389	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:107418389T>A	uc004enw.4	-	29	2993	c.2890A>T	c.(2890-2892)Aac>Tac	p.N964Y	COL4A6_uc004env.4_Missense_Mutation_p.N963Y|COL4A6_uc011msn.2_Missense_Mutation_p.N963Y|COL4A6_uc010npk.3_Missense_Mutation_p.N963Y	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	964	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						AGCCAAAGGTTTGACATTGGA	0.542000									Alport syndrome with Diffuse Leiomyomatosis					223			181		0	0	1	0	0
CCDC63	160762	broad.mit.edu	37	12	111342456	111342456	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:111342456G>A	uc001trv.1	+	10	1602	c.1407G>A	c.(1405-1407)gtG>gtA	p.V469V	CCDC63_uc010sye.1_Silent_p.V429V|CCDC63_uc001trw.1_Silent_p.V384V	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN	Homo sapiens coiled-coil domain containing 63 (CCDC63), mRNA.	469										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						TCCTGGAAGTGGAAGGGGCAG	0.577000														102			56		0	0	1	0	0
ELOVL7	79993	broad.mit.edu	37	5	60060118	60060118	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:60060118G>A	uc003jsi.4	-	6	635	c.435C>T	c.(433-435)ttC>ttT	p.F145F	ELOVL7_uc011cqo.2_Silent_p.F58F|ELOVL7_uc010iwk.3_Silent_p.F145F|ELOVL7_uc003jsj.4_Silent_p.F132F	NM_024930	NP_079206	A1L3X0	ELOV7_HUMAN	Homo sapiens ELOVL fatty acid elongase 7 (ELOVL7), transcript variant 1, mRNA.	145					fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				ATACATGAAGGAAAGTCACTT	0.358000														54			35		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168101647	168101647	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:168101647G>A	uc002udx.3	+	8	3834	c.3745G>A	c.(3745-3747)Gat>Aat	p.D1249N	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.D1074N|XIRP2_uc010fpq.3_Missense_Mutation_p.D1027N|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1074					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						CCAACCAATTGATAAGATAAA	0.343000														55			45		0	0	1	0	0
UGT2B15	7366	broad.mit.edu	37	4	69519873	69519873	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr4:69519873C>T	uc021xow.1	-	4	1353	c.1195G>A	c.(1195-1197)Gat>Aat	p.D399N		NM_001076	NP_001067	P54855	UDB15_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA.	399					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										TCATGTTGATCCGCAAACAAG	0.463000														272			57		0	0	1	0	0
RHEBL1	121268	broad.mit.edu	37	12	49460443	49460443	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:49460443G>A	uc001rtc.1	-	3	441	c.234C>T	c.(232-234)gtC>gtT	p.V78V	RHEBL1_uc001rtd.1_Silent_p.V74V|RHEBL1_uc009zlc.1_Non-coding_Transcript	NM_144593	NP_653194	Q8TAI7	REBL1_HUMAN	Homo sapiens Ras homolog enriched in brain like 1 (RHEBL1), mRNA.	78					TOR signaling cascade|positive regulation of NF-kappaB transcription factor activity|small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP binding|GTPase activity|protein binding			breast(2)|large_intestine(2)|lung(5)	9						CATAACCATGGACCCCAATGA	0.463000														67			48		0	0	1	0	0
SERPINB2	5055	broad.mit.edu	37	18	61565017	61565017	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr18:61565017C>T	uc010xeu.2	+	5	807	c.474C>T	c.(472-474)ttC>ttT	p.F158F	SERPINB2_uc002ljo.3_Silent_p.F158F|SERPINB2_uc002ljp.1_5'UTR|SERPINB2_uc002ljq.1_5'UTR	NM_001143818	NP_002566	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 2 (SERPINB2), transcript variant 1, mRNA.	158					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)	CAGTAGACTTCCTAGAATGTG	0.343000														72			32		0	0	1	0	0
ZNF33A	7581	broad.mit.edu	37	10	38343365	38343365	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr10:38343365G>A	uc010qev.2	+	3	435	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K	ZNF33A_uc001izg.3_Missense_Mutation_p.E105K|ZNF33A_uc001izh.3_Missense_Mutation_p.E104K|ZNF33A_uc001izi.1_Missense_Mutation_p.E105K|ZNF33A_uc021ppe.1_Missense_Mutation_p.E105K	NM_006974	NP_008905	Q06730	ZN33A_HUMAN	Homo sapiens zinc finger protein 33A (ZNF33A), transcript variant 2, mRNA.	104						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						ACATTTGTGGGAAGTTGTATT	0.348000														63			56		0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48270008	48270008	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:48270008C>T	uc002iqm.3	-	27	2048	c.1922G>A	c.(1921-1923)gGa>gAa	p.G641E		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	641	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	p.P640P(1)|p.P640T(1)	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)	CACCTGGAATCCGGGGGAGCC	0.602000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta							149			107		0	0	1	0	0
C9	735	broad.mit.edu	37	5	39342193	39342193	+	Splice_Site	SNP	C	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:39342193C>A	uc003jlv.4	-	2	272	c.183_splice	c.e2+1	p.M61_splice		NM_001737	NP_001728	P02748	CO9_HUMAN	Homo sapiens complement component 9 (C9), mRNA.	61	TSP type-1.				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)			GAACACTTACCATTTGTCTGA	0.493000														81			63		1.17597e-53	1.1903e-53	1	1	0
GPR64	10149	broad.mit.edu	37	X	19014270	19014270	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:19014270C>T	uc004cyx.3	-	27	2857	c.2615_splice	c.e27-1	p.G872_splice	GPR64_uc004cze.3_Splice_Site_p.G842_splice|GPR64_uc004cza.3_Splice_Site_p.G850_splice|GPR64_uc004czf.3_Splice_Site_p.G834_splice|GPR64_uc004cyy.3_Splice_Site_p.G869_splice|GPR64_uc004czc.3_Splice_Site_p.G856_splice|GPR64_uc004cyz.3_Splice_Site_p.G858_splice|GPR64_uc004czb.3_Splice_Site_p.G872_splice|GPR64_uc004czd.3_Splice_Site_p.G848_splice|GPR64_uc004cyw.3_Splice_Site_p.G856_splice|GPR64_uc010nfj.3_Splice_Site_p.G753_splice	NM_001079858	NP_001073327	Q8IZP9	GPR64_HUMAN	Homo sapiens G protein-coupled receptor 64 (GPR64), transcript variant 1, mRNA.	872					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					TATGAAAAATCCTAAGGAGGG	0.368000														66			58		0	0	1	0	0
MPP5	64398	broad.mit.edu	37	14	67799544	67799544	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:67799544G>A	uc001xjc.3	+	14	2365	c.1899G>A	c.(1897-1899)caG>caA	p.Q633Q	MPP5_uc001xjd.3_Silent_p.Q599Q	NM_022474	NP_071919	Q8N3R9	MPP5_HUMAN	Homo sapiens membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5) (MPP5), mRNA.	633	Guanylate kinase-like.				tight junction assembly	cytoplasm|endomembrane system|tight junction	protein domain specific binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		AGATGGAGCAGAACAATGGCC	0.368000														106			3		0	0	1	0	0
FMO1	2326	broad.mit.edu	37	1	171244613	171244613	+	Silent	SNP	T	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:171244613T>A	uc009wvz.3	+	3	586	c.450T>A	c.(448-450)ctT>ctA	p.L150L	FMO1_uc010pme.2_Silent_p.L87L|FMO1_uc001ghl.3_Silent_p.L150L|FMO1_uc001ghm.3_Silent_p.L150L	NM_002021	NP_002012	Q01740	FMO1_HUMAN	Homo sapiens flavin containing monooxygenase 1 (FMO1), mRNA.	150					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTGGCTTTCTTACTAATCCTT	0.448000														115			86		0	0	1	0	0
POU6F2	11281	broad.mit.edu	37	7	39243877	39243878	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:39243877_39243878CC>TT	uc003thb.2	+	3	377_378	c.234_235CC>TT	c.(232-237)gaccaa>gaTTaa	p.Q79*	POU6F2_uc022acb.1_Nonsense_Mutation_p.Q79*|POU6F2_uc010kxo.3_Nonsense_Mutation_p.Q71*	NM_007252	NP_009183	P78424	PO6F2_HUMAN	Homo sapiens POU class 6 homeobox 2 (POU6F2), transcript variant 1, mRNA.	79					central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						GCACTCCTGACCAACACCAGGC	0.495000														54			29		0	0	1	0	0
ENTPD6	955	broad.mit.edu	37	20	25197351	25197351	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr20:25197351C>T	uc002wuj.2	+	7	957	c.777C>T	c.(775-777)atC>atT	p.I259I	ENTPD6_uc010zsy.1_Silent_p.I259I|ENTPD6_uc010gdj.1_Silent_p.I231I|ENTPD6_uc002wum.2_Silent_p.I242I|ENTPD6_uc010zta.1_Silent_p.I259I|ENTPD6_uc002wuk.2_Silent_p.I258I|ENTPD6_uc002wul.2_Silent_p.I258I|ENTPD6_uc010ztb.1_Silent_p.I231I|ENTPD6_uc010ztc.1_Silent_p.I231I|ENTPD6_uc002wuo.2_Silent_p.I11I|ENTPD6_uc010zsz.1_Silent_p.I41I|ENTPD6_uc010ztd.1_Silent_p.I41I	NM_001247	NP_001238	O75354	ENTP6_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 6 (putative) (ENTPD6), transcript variant 1, mRNA.	259						Golgi membrane|integral to membrane	nucleoside-diphosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						CCACTCAGATCGCCTTCCTGC	0.642000														16			11		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113563001	113563001	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr8:113563001G>A	uc003ynu.3	-	26	4622	c.4463C>T	c.(4462-4464)tCt>tTt	p.S1488F	CSMD3_uc003yns.3_Missense_Mutation_p.S760F|CSMD3_uc003ynt.3_Missense_Mutation_p.S1448F|CSMD3_uc011lhx.2_Missense_Mutation_p.S1384F	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1488	CUB 8.					integral to membrane|plasma membrane		p.G1487V(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGGAATAAGAGATCCACTAAT	0.373000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				104			35		0	0	1	0	0
C3P1	388503	broad.mit.edu	37	19	10169537	10169537	+	RNA	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:10169537C>T	uc010dwx.2	+	17		c.2172C>T								Homo sapiens complement component 3 precursor pseudogene (C3P1), non-coding RNA.											endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						GAGAAAACTTCCCGACATTCA	0.572000														75			68		0	0	1	0	0
SLC4A3	6508	broad.mit.edu	37	2	220494117	220494117	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:220494117C>T	uc002vmo.4	+	3	678	c.469C>T	c.(469-471)Cac>Tac	p.H157Y	SLC4A3_uc002vmn.2_Missense_Mutation_p.H157Y|SLC4A3_uc002vmp.4_Missense_Mutation_p.H157Y|SLC4A3_uc010fwm.3_5'UTR|SLC4A3_uc010fwn.1_5'Flank	NM_201574	NP_963868	P48751	B3A3_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 3 (SLC4A3), transcript variant 2, mRNA.	157	Pro-rich.		H -> P (in dbSNP:rs597306).		bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGAGCCCCCCCACTCAGGGAC	0.627000														6			6		0	0	1	0	0
EBF2	64641	broad.mit.edu	37	8	25766040	25766040	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr8:25766040G>A	uc003xes.2	-	6	848	c.583C>T	c.(583-585)Cag>Tag	p.Q195*	DOCK5_uc003xek.3_Intron	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	Homo sapiens early B-cell factor 2 (EBF2), mRNA.	195					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		AAACAATTCTGATTGCACTTG	0.378000														8			29		0	0	1	0	0
KRT77	374454	broad.mit.edu	37	12	53086575	53086575	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:53086575C>T	uc001saw.3	-	5	1199	c.1170G>A	c.(1168-1170)caG>caA	p.Q390Q	KRT77_uc009zmi.3_Silent_p.Q148Q	NM_175078	NP_778253	Q7Z794	K2C1B_HUMAN	Homo sapiens keratin 77 (KRT77), mRNA.	390	Coil 2.|Rod.					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						CCTGCAGCCTCTGGACGGTGC	0.592000														66			43		0	0	1	0	0
GLCCI1	113263	broad.mit.edu	37	7	8126136	8126136	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:8126136C>T	uc003srk.3	+	7	2171	c.1612C>T	c.(1612-1614)Cac>Tac	p.H538Y		NM_138426	NP_612435	Q86VQ1	GLCI1_HUMAN	Homo sapiens glucocorticoid induced transcript 1 (GLCCI1), mRNA.	538										endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		GGGTGAGGACCACATCTCTGC	0.542000														135			103		0	0	1	0	0
ADD3	120	broad.mit.edu	37	10	111893168	111893168	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr10:111893168T>C	uc001kyu.3	+	14	2069	c.1913T>C	c.(1912-1914)gTt>gCt	p.V638A	ADD3_uc001kyt.4_Missense_Mutation_p.V638A|ADD3_uc001kys.4_Missense_Mutation_p.V606A|ADD3_uc001kyv.3_Missense_Mutation_p.V638A|ADD3_uc001kyw.3_Missense_Mutation_p.V606A|ADD3_uc001kyx.3_Missense_Mutation_p.V211A	NM_016824	NP_058432	Q9UEY8	ADDG_HUMAN	Homo sapiens adducin 3 (gamma) (ADD3), transcript variant 1, mRNA.	638						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		ATGCATGATGTTGAAGATGAG	0.423000														27			114		0	0	1	0	0
GNB2L1	10399	broad.mit.edu	37	5	180665212	180665212	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:180665212T>C	uc003mni.1	-	5	770	c.664A>G	c.(664-666)Aac>Gac	p.N222D	GNB2L1_uc003mnj.1_Missense_Mutation_p.N176D|GNB2L1_uc011dhk.1_3'UTR	NM_006098	NP_006089	P63244	GBLP_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1 (GNB2L1), mRNA.	222					apoptosis|cell cycle|gastrulation|interspecies interaction between organisms|negative regulation of Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of phagocytosis|negative regulation of translation|positive regulation of GTPase activity|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of gastrulation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein homooligomerization|positive regulation of protein phosphorylation|regulation of cell cycle|regulation of cell division|regulation of establishment of cell polarity|regulation of protein localization|rhythmic process	cytoskeleton|dendrite|midbody|nucleus|perikaryon|perinuclear region of cytoplasm|phagocytic cup|small ribosomal subunit	SH2 domain binding|ion channel inhibitor activity|protein kinase C binding|protein phosphatase binding|protein tyrosine kinase inhibitor activity|receptor tyrosine kinase binding			lung(3)|skin(2)	5	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11)		TTGCCTTCGTTGAGATCCCAT	0.527000														121			112		0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77666801	77666801	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:77666801C>T	uc011bgk.2	+	22	4086	c.3443C>T	c.(3442-3444)tCc>tTc	p.S1148F	ROBO2_uc021xat.1_Missense_Mutation_p.S1160F|ROBO2_uc003dpy.4_Missense_Mutation_p.S1144F|ROBO2_uc003dpz.3_Missense_Mutation_p.S1148F|ROBO2_uc011bgj.2_Non-coding_Transcript|ROBO2_uc003dqa.3_Missense_Mutation_p.S271F	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	1144					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	p.Q1147H(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CCTGCTATCTCCTTTGGACAG	0.512000														84			57		0	0	1	0	0
MINK1	50488	broad.mit.edu	37	17	4789836	4789836	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:4789836C>T	uc010vsl.2	+	9	1108	c.864C>T	c.(862-864)ttC>ttT	p.F288F	MINK1_uc010vsk.2_Silent_p.F288F|MINK1_uc010vsm.2_Silent_p.F288F|MINK1_uc010vsn.2_Silent_p.F288F|MINK1_uc010vso.2_Silent_p.F233F|MINK1_uc010vsp.2_5'UTR	NM_153827	NP_722549	Q8N4C8	MINK1_HUMAN	Homo sapiens misshapen-like kinase 1 (MINK1), transcript variant 3, mRNA.	288	Protein kinase.				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						AGTTTCCCTTCATCCGGGACC	0.557000														108			81		0	0	1	0	0
H1FOO	132243	broad.mit.edu	37	3	129267943	129267943	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:129267943C>T	uc003emu.3	+	2	483	c.478C>T	c.(478-480)Cca>Tca	p.P160S	H1FOO_uc003emv.3_Missense_Mutation_p.P21S	NM_153833	NP_722575	Q8IZA3	H1FOO_HUMAN	Homo sapiens H1 histone family, member O, oocyte-specific (H1FOO), mRNA.	160					meiosis|nucleosome assembly	cytoplasm|nucleosome	DNA binding			endometrium(1)|lung(4)|skin(1)	6						CCCCAAGAAACCAAGTGAGGC	0.617000														11			5		0	0	1	0	0
NONO	4841	broad.mit.edu	37	X	70514088	70514088	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:70514088C>T	uc004dzo.3	+	5	1070	c.360C>T	c.(358-360)acC>acT	p.T120T	BCYRN1_uc011mpt.1_Intron|NONO_uc004dzn.3_Silent_p.T120T|NONO_uc004dzp.3_Silent_p.T120T|NONO_uc011mpv.2_Silent_p.T31T|NONO_uc004dzq.3_5'UTR	NM_001145408	NP_001138882	Q15233	NONO_HUMAN	Homo sapiens non-POU domain containing, octamer-binding (NONO), transcript variant 1, mRNA.	120	DBHS.|RRM 1.				DNA recombination|DNA repair|RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|RNA binding|identical protein binding|nucleotide binding		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					AAACCCGAACCCTAGCGGAGA	0.473000			T	TFE3	papillary renal cancer									72			42		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77764324	77764324	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr8:77764324C>T	uc003yau.2	+	9	5554	c.5167C>T	c.(5167-5169)Cct>Tct	p.P1723S	ZFHX4_uc003yaw.1_Missense_Mutation_p.P1678S	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	1678	Gln-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P1723T(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCCTCATTTTCCTATGACCCC	0.473000										HNSCC(33;0.089)				113			39		0	0	1	0	0
FGF5	2250	broad.mit.edu	37	4	81207634	81207634	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr4:81207634G>A	uc003hmd.3	+	2	852	c.615G>A	c.(613-615)cgG>cgA	p.R205R	FGF5_uc003hme.3_3'UTR	NM_004464	NP_004455	P12034	FGF5_HUMAN	Homo sapiens fibroblast growth factor 5 (FGF5), transcript variant 1, mRNA.	205					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	p.R205Q(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						GCAGCCCCCGGGTTAAACCCC	0.473000														82			64		0	0	1	0	0
BPHL	670	broad.mit.edu	37	6	3137609	3137609	+	Silent	SNP	T	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:3137609T>A	uc003mva.3	+	4	595	c.546T>A	c.(544-546)gtT>gtA	p.V182V	BPHL_uc003muz.3_Non-coding_Transcript|BPHL_uc011dht.2_Non-coding_Transcript|BPHL_uc003muy.3_Silent_p.V165V	NM_004332	NP_004323	Q86WA6	BPHL_HUMAN	Homo sapiens biphenyl hydrolase-like (serine hydrolase) (BPHL), transcript variant 1, mRNA.	182				V -> R (in Ref. 6; CAA40859).	cellular amino acid metabolic process|response to toxin	mitochondrion	hydrolase activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)	13	Ovarian(93;0.0386)	all_hematologic(90;0.108)				TCCGAGATGTTTCCAAATGGA	0.418000														225			102		0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	25925026	25925026	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr15:25925026G>A	uc010ayu.3	-	20	4068	c.3962C>T	c.(3961-3963)cCc>cTc	p.P1321L		NM_024490	NP_077816	O60312	AT10A_HUMAN	Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA.	1321					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GGTCTCTTTGGGAGCACTGCA	0.572000														114			85		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82545171	82545171	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:82545171C>T	uc003uhx.2	-	6	12420	c.12131G>A	c.(12130-12132)cGa>cAa	p.R4044Q	PCLO_uc003uhv.2_Missense_Mutation_p.R4044Q|PCLO_uc010lec.3_Missense_Mutation_p.R1009Q	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3975					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.R4044Q(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						GACATAATTTCGTGGAGTATG	0.408000														29			15		0	0	1	0	0
TYRO3	7301	broad.mit.edu	37	15	41863308	41863308	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr15:41863308T>G	uc001zof.2	+	12	1888	c.1652T>G	c.(1651-1653)aTg>aGg	p.M551R		NM_006293	NP_006284	Q06418	TYRO3_HUMAN	Homo sapiens TYRO3 protein tyrosine kinase (TYRO3), mRNA.	551	Protein kinase.					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GCTGTGAAGATGCTGAAAGGT	0.542000														105			104		0	0	1	0	0
LHFPL4	375323	broad.mit.edu	37	3	9594070	9594070	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:9594070G>A	uc003bry.3	-	1	580	c.294C>T	c.(292-294)ttC>ttT	p.F98F		NM_198560	NP_940962	Q7Z7J7	LHPL4_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 4 (LHFPL4), mRNA.	98						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10	Medulloblastoma(99;0.227)					AGAGCAGCACGAAGAAGGCGG	0.637000														5			33		0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29600837	29600837	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr13:29600837C>T	uc001usl.4	+	0	2090	c.2032C>T	c.(2032-2034)Cca>Tca	p.P678S		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	668	Mediates interaction with MAPRE1.					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						AGTGGGGCTTCCATATGCCCC	0.592000														32			22		0	0	1	0	0
SLC30A4	7782	broad.mit.edu	37	15	45779808	45779808	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr15:45779808G>A	uc001zvj.3	-	5	1229	c.917C>T	c.(916-918)cCc>cTc	p.P306L		NM_013309	NP_037441	O14863	ZNT4_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 4 (SLC30A4), mRNA.	306					regulation of sequestering of zinc ion|response to toxin	endosome membrane|integral to membrane|late endosome	zinc ion transmembrane transporter activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		TGTACAGATGGGGTCAGCAAT	0.318000														63			68		0	0	1	0	0
HMGB3	3149	broad.mit.edu	37	X	150156315	150156315	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:150156315G>A	uc004fep.3	+	4	623	c.531G>A	c.(529-531)cgG>cgA	p.R177R	HMGB3_uc004feq.3_3'UTR|HMGB3_uc004fer.3_Silent_p.R177R	NM_005342	NP_005333	O15347	HMGB3_HUMAN	Homo sapiens high mobility group box 3 (HMGB3), mRNA.	177					DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding			endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					AAGTTGCCCGGAAAAaggtgg	0.448000														57			48		0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40366629	40366629	+	Silent	SNP	T	G	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:40366629T>G	uc002rrx.3	-	8	2481	c.2457A>C	c.(2455-2457)ggA>ggC	p.G819G	LOC100128590_uc002rrw.3_Intron|SLC8A1_uc002rry.3_Silent_p.G814G|SLC8A1_uc002rsb.2_Silent_p.G811G|SLC8A1_uc002rrz.3_Silent_p.G806G|SLC8A1_uc002rsa.3_Silent_p.G783G|SLC8A1_uc002rsd.4_Silent_p.G783G	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	819					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AAGCCAGGTCTCCAATGAAAG	0.507000														39			27		0	0	1	0	0
LOC392232	392232	broad.mit.edu	37	8	73157235	73157235	+	RNA	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr8:73157235C>T	uc022avu.1	-	2		c.367G>A								Homo sapiens transient receptor potential cation channel, subfamily A, member 1 pseudogene (LOC392232), non-coding RNA.																		AGGGCTATTCCATAATCATCC	0.398000														25			11		0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946437	16946437	+	RNA	SNP	C	T	T	rs2262202		TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:16946437C>T	uc010ocf.2	-	2		c.461G>A			CROCCP2_uc009vov.2_Non-coding_Transcript|CROCCP2_uc001aze.3_Non-coding_Transcript|CROCCP2_uc001azf.3_Non-coding_Transcript					Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 2 (CROCCP2), non-coding RNA.																		AGCCTTCCGCCGGGCCAGCAG	0.672000														46			7		0	0	1	0	0
LRRC49	54839	broad.mit.edu	37	15	71188216	71188216	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr15:71188216C>T	uc010ukf.2	+	2	455	c.149C>T	c.(148-150)tCg>tTg	p.S50L	LRRC49_uc002asu.3_Missense_Mutation_p.S35L|LRRC49_uc002asx.3_5'UTR|LRRC49_uc002asw.3_Missense_Mutation_p.S45L|LRRC49_uc002asy.3_5'UTR|LRRC49_uc002asz.3_5'UTR	NM_001199017	NP_001185946	Q8IUZ0	LRC49_HUMAN	Homo sapiens leucine rich repeat containing 49 (LRRC49), transcript variant 1, mRNA.	45						cytoplasm|microtubule		p.S45L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						AAAGACACATCGTCATTCCCC	0.323000														63			16		0	0	1	0	0
SHKBP1	92799	broad.mit.edu	37	19	41089548	41089548	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:41089548C>T	uc002oob.3	+	11	1139	c.1090C>T	c.(1090-1092)Ctt>Ttt	p.L364F	SHKBP1_uc002ooc.3_Missense_Mutation_p.L339F|SHKBP1_uc010xvl.1_Missense_Mutation_p.L287F|SHKBP1_uc002ooe.3_Missense_Mutation_p.L201F|SHKBP1_uc010xvm.2_Missense_Mutation_p.L201F|SHKBP1_uc010xvn.2_Missense_Mutation_p.L242F	NM_138392	NP_612401	Q8TBC3	SHKB1_HUMAN	Homo sapiens SH3KBP1 binding protein 1 (SHKBP1), mRNA.	364						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CAACGACCTCCTTGTCAGCGA	0.617000														173			118		0	0	1	0	0
HERC2P3	283755	broad.mit.edu	37	15	20644259	20644259	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr15:20644259C>T	uc001ytg.3	-	21	3324	c.2615G>A	c.(2614-2616)tGg>tAg	p.W872*	HERC2P3_uc010tyx.1_Non-coding_Transcript|HERC2P3_uc001yth.4_Nonsense_Mutation_p.W872*					Homo sapiens hect domain and RLD 2 pseudogene 3 (HERC2P3), non-coding RNA.											central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						GAGCCCATTCCACTGAGTCAG	0.607000														47			37		0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24886412	24886412	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:24886412G>A	uc001wpf.4	+	8	5775	c.5457G>A	c.(5455-5457)cgG>cgA	p.R1819R		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	1819					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						GTTTCAAGCGGGAGAGCCAGG	0.592000														76			39		0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130926975	130926975	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:130926975C>T	uc001uil.2	-	7	1087	c.871G>A	c.(871-873)Gac>Aac	p.D291N	RIMBP2_uc001uim.3_Missense_Mutation_p.D199N	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	291						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TCTCCGATGTCGTCGATGTTC	0.587000														127			128		0	0	1	0	0
SMARCA1	6594	broad.mit.edu	37	X	128641929	128641929	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:128641929C>T	uc011muk.1	-	6	1068	c.955G>A	c.(955-957)Gaa>Aaa	p.E319K	SMARCA1_uc004eun.4_Missense_Mutation_p.E319K|SMARCA1_uc004eup.4_Missense_Mutation_p.E319K|SMARCA1_uc011mul.1_Missense_Mutation_p.E319K	NM_003069	NP_003060	P28370	SMCA1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 (SMARCA1), transcript variant 1, mRNA.	319	Helicase ATP-binding.				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						TTAGATTTTTCATTCTTTATT	0.289000														36			23		0	0	1	0	0
TSSK1B	83942	broad.mit.edu	37	5	112769966	112769966	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:112769966G>A	uc003kqm.2	-	0	763	c.571C>T	c.(571-573)Ccc>Tcc	p.P191S	MCC_uc003kql.4_Intron	NM_032028	NP_114417	Q9BXA7	TSSK1_HUMAN	Homo sapiens testis-specific serine kinase 1B (TSSK1B), mRNA.	191	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		GGCTGGTAGGGAATGCCCTGC	0.577000														34			29		0	0	1	0	0
SLC1A2	6506	broad.mit.edu	37	11	35338930	35338930	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:35338930C>T	uc001mwd.3	-	1	743	c.151G>A	c.(151-153)Gtg>Atg	p.V51M	SLC1A2_uc021qfx.1_Missense_Mutation_p.V42M|SLC1A2_uc001mwe.3_Missense_Mutation_p.V42M|SLC1A2_uc010rev.1_Missense_Mutation_p.V51M|SLC1A2_uc021qfy.1_Missense_Mutation_p.V96M	NM_004171	NP_001239581	P43004	EAA2_HUMAN	Homo sapiens solute carrier family 1 (glial high affinity glutamate transporter), member 2 (SLC1A2), transcript variant 1, mRNA.	51					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	CTACCAAACACCGTCAGGGTG	0.622000														42			25		0	0	1	0	0
SYT14	255928	broad.mit.edu	37	1	210334237	210334237	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:210334237T>A	uc001hhs.4	+	9	1768	c.1710T>A	c.(1708-1710)taT>taA	p.Y570*	SYT14_uc001hht.4_Nonsense_Mutation_p.Y525*|SYT14_uc010psn.2_Nonsense_Mutation_p.Y551*|SYT14_uc001hhu.4_Non-coding_Transcript|SYT14_uc010pso.2_Nonsense_Mutation_p.Y468*|SYT14_uc009xcv.3_Nonsense_Mutation_p.Y506*|SYT14_uc010psp.2_Nonsense_Mutation_p.Y44*	NM_001146261	NP_001139733	Q8NB59	SYT14_HUMAN	Homo sapiens synaptotagmin XIV (SYT14), transcript variant 1, mRNA.	506						integral to membrane				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		TGTCTGTGTATAACAAACGCA	0.418000														197			76		0	0	1	0	0
TNFRSF21	27242	broad.mit.edu	37	6	47251946	47251946	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:47251946G>A	uc003oyv.3	-	2	1404	c.971C>T	c.(970-972)tCc>tTc	p.S324F		NM_014452	NP_055267	O75509	TNR21_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 21 (TNFRSF21), mRNA.	324					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			GGGCGTGCTGGACTTCTCGCC	0.557000														270			101		0	0	1	0	0
MAGEA1	4100	broad.mit.edu	37	X	152482823	152482823	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:152482823G>A	uc022chs.1	-	0	188	c.188C>T	c.(187-189)gCc>gTc	p.A63V	MAGEA1_uc004fhf.2_Missense_Mutation_p.A63V	NM_004988	NP_004979	P43355	MAGA1_HUMAN	Homo sapiens melanoma antigen family A, 1 (directs expression of antigen MZ2-E) (MAGEA1), mRNA.	63			A -> T (in dbSNP:rs2233044).			cytoplasm|plasma membrane		p.A63P(1)		breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGTGGGAAAGGCGGAGGCTCC	0.622000														131			86		0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56388294	56388294	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:56388294G>A	uc002ivx.4	-	18	4233	c.3362C>T	c.(3361-3363)cCc>cTc	p.P1121L	BZRAP1_uc010dcs.3_Missense_Mutation_p.P1061L|BZRAP1_uc010wnt.2_Missense_Mutation_p.P1121L	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1121	Pro-rich.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGTTCCAAGGGGAGCAGGGTG	0.657000														15			9		0	0	1	0	0
SEMG2	6407	broad.mit.edu	37	20	43851361	43851361	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr20:43851361A>C	uc010ggz.3	+	1	1145	c.1088A>C	c.(1087-1089)aAg>aCg	p.K363T	SEMG2_uc002xnk.3_Missense_Mutation_p.K363T|SEMG2_uc002xnl.3_Missense_Mutation_p.K363T	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	Homo sapiens semenogelin II (SEMG2), mRNA.	363	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				TGTGGAGAAAAGGGCATCCAG	0.383000														58			51		0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92734352	92734352	+	Silent	SNP	C	T	T	rs145911444	byFrequency	TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:92734352C>T	uc003umf.3	-	2	1329	c.1059G>A	c.(1057-1059)acG>acA	p.T353T	SAMD9_uc003umg.3_Silent_p.T353T|SAMD9_uc022ahg.1_Silent_p.T353T	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	353						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			CTTTATTTTTCGTAATGTCCT	0.318000														61			36		0	0	1	0	0
VEPH1	79674	broad.mit.edu	37	3	157031522	157031522	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:157031522G>A	uc003fbj.2	-	10	2317	c.1898C>T	c.(1897-1899)tCc>tTc	p.S633F	VEPH1_uc003fbk.2_Missense_Mutation_p.S633F|VEPH1_uc010hvu.2_Intron	NM_024621	NP_078897	Q14D04	MELT_HUMAN	Homo sapiens ventricular zone expressed PH domain homolog 1 (zebrafish) (VEPH1), transcript variant 1, mRNA.	633						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			ACTCTGAATGGACAGGGGTTC	0.458000														87			53		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170077059	170077059	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:170077059G>C	uc002ues.3	-	33	5766	c.5553C>G	c.(5551-5553)caC>caG	p.H1851Q		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	1851					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity	p.H1851Y(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TGATATCTCCGTGGAGTGTCA	0.403000														26			16		0	0	1	0	0
DOCK11	139818	broad.mit.edu	37	X	117815030	117815030	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:117815030C>T	uc004eqp.2	+	49	5744	c.5681C>T	c.(5680-5682)tCg>tTg	p.S1894L	DOCK11_uc004eqq.2_Missense_Mutation_p.S1673L	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA.	1894	DHR-2.				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						GCTTCAAACTCGTTTCCTTAC	0.299000														85			45		0	0	1	0	0
C5	727	broad.mit.edu	37	9	123742432	123742432	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr9:123742432G>A	uc004bkv.3	-	27	3617	c.3587C>T	c.(3586-3588)tCc>tTc	p.S1196F		NM_001735	NP_001726	P01031	CO5_HUMAN	Homo sapiens complement component 5 (C5), mRNA.	1196					G-protein coupled receptor protein signaling pathway|activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	ATCTCCCAGGGAAAGAGCATA	0.403000														15			62		0	0	1	0	0
CRY2	1408	broad.mit.edu	37	11	45869047	45869047	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:45869047G>A	uc010rgn.2	+	0	91	c.69G>A	c.(67-69)gcG>gcA	p.A23A	CRY2_uc009ykw.3_Intron	NM_021117	NP_066940	Q49AN0	CRY2_HUMAN	Homo sapiens cryptochrome 2 (photolyase-like) (CRY2), transcript variant 1, mRNA.	2	DNA photolyase.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA photolyase activity|blue light photoreceptor activity|damaged DNA binding|nucleotide binding|protein binding|single-stranded DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						CAGTCATggcggcgactgtgg	0.721000														14			20		0	0	1	0	0
CLPX	10845	broad.mit.edu	37	15	65448155	65448155	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr15:65448155G>A	uc002aom.3	-	9	1258	c.1186C>T	c.(1186-1188)Cca>Tca	p.P396S	CLPX_uc010uiu.2_Non-coding_Transcript	NM_006660	NP_006651	O76031	CLPX_HUMAN	Homo sapiens ClpX caseinolytic peptidase X homolog (E. coli) (CLPX), mRNA.	396					protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						TTCTTTTCTGGAACATTGACT	0.338000														83			56		0	0	1	0	0
PRSS21	10942	broad.mit.edu	37	16	2870993	2870993	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr16:2870993C>T	uc002crt.3	+	4	694	c.588C>T	c.(586-588)gtC>gtT	p.V196V	PRSS21_uc002crr.3_Silent_p.V196V|PRSS21_uc002crs.3_Silent_p.V194V	NM_006799	NP_006790	Q9Y6M0	TEST_HUMAN	Homo sapiens protease, serine, 21 (testisin) (PRSS21), transcript variant 1, mRNA.	196	Peptidase S1.				proteolysis	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	15						AAGTTCAGGTCGCCATCATAA	0.547000														304			236		0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36230727	36230727	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr4:36230727C>T	uc003gsq.2	-	1	720	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K	ARAP2_uc003gsr.1_Missense_Mutation_p.E128K	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	128					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TCACTGTCTTCAAGATTTTTT	0.448000														71			53		0	0	1	0	0
LMTK3	114783	broad.mit.edu	37	19	49013730	49013730	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:49013730C>T	uc002pjk.3	-	2	283	c.283G>A	c.(283-285)Gat>Aat	p.D95N		NM_001080434	NP_001073903			Homo sapiens lemur tyrosine kinase 3 (LMTK3), mRNA.											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		AAGCCGACATCGCCCCGTTTG	0.602000														9			9		0	0	1	0	0
NPHP3	27031	broad.mit.edu	37	3	132349375	132349375	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:132349375G>A	uc003eov.4	-	6	1249	c.869C>T	c.(868-870)tCa>tTa	p.S290L		NM_032169	NP_115545	Q7Z494	NPHP3_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 11 (ACAD11), mRNA.	0					Wnt receptor signaling pathway|maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCAATATATTGAAATCAGTTC	0.323000														40			31		0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120673835	120673835	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:120673835C>T	uc003eec.4	+	2	378	c.238C>T	c.(238-240)Cca>Tca	p.P80S	STXBP5L_uc011bji.2_Missense_Mutation_p.P80S	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	80					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AGCCTTTGATCCAGTTCAGAA	0.378000														69			47		0	0	1	0	0
FMNL1	752	broad.mit.edu	37	17	43321188	43321188	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:43321188C>T	uc002iin.3	+	17	2444	c.2244C>T	c.(2242-2244)ttC>ttT	p.F748F	FMNL1_uc002iiq.3_Silent_p.F326F|FMNL1_uc010dag.3_Non-coding_Transcript|FMNL1_uc021tyj.1_Silent_p.F75F	NM_005892	NP_005883	O95466	FMNL_HUMAN	Homo sapiens formin-like 1 (FMNL1), mRNA.	748	FH2.				actin cytoskeleton organization		Rho GTPase binding|actin binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						GCCTGGACTTCCTGGAGCTGC	0.632000														36			26		0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175049375	175049375	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:175049375G>A	uc001gkl.1	+	3	974	c.861G>A	c.(859-861)caG>caA	p.Q287Q	TNN_uc010pmx.1_Silent_p.Q287Q	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	287	Fibronectin type-III 1.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CCTCCAGCCAGGTGGATCACT	0.592000														60			31		0	0	1	0	0
FCAR	2204	broad.mit.edu	37	19	55396831	55396831	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:55396831C>T	uc002qhr.1	+	2	452	c.255C>T	c.(253-255)ttC>ttT	p.F85F	FCAR_uc021vbp.1_Non-coding_Transcript|FCAR_uc002qhq.3_Silent_p.F85F|FCAR_uc002qhs.1_Non-coding_Transcript|FCAR_uc002qht.1_Silent_p.F58F|FCAR_uc010esi.1_Silent_p.F58F|FCAR_uc002qhu.1_Silent_p.F85F|FCAR_uc002qhv.1_Silent_p.F85F|FCAR_uc002qhw.1_Silent_p.F73F|FCAR_uc002qhx.1_Silent_p.F73F|FCAR_uc002qhy.1_Silent_p.F73F|FCAR_uc002qhz.1_Silent_p.F73F|FCAR_uc002qia.1_Intron	NM_002000	NP_001991	P24071	FCAR_HUMAN	Homo sapiens Fc fragment of IgA, receptor for (FCAR), transcript variant 1, mRNA.	85	Ig-like C2-type 1.				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)		ATCCTGAGTTCGTCATTGACC	0.488000														59			45		0	0	1	0	0
RASGEF1C	255426	broad.mit.edu	37	5	179555479	179555479	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:179555479G>A	uc003mlq.3	-	3	867	c.570C>T	c.(568-570)atC>atT	p.I190I	RASGEF1C_uc003mlr.3_Silent_p.I190I|RASGEF1C_uc003mlp.4_Silent_p.I39I	NM_175062	NP_778232	Q8N431	RGF1C_HUMAN	Homo sapiens RasGEF domain family, member 1C (RASGEF1C), mRNA.	190					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCTCCCTGTGGATGGAGGCTG	0.647000														80			58		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7585756	7585756	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:7585756G>A	uc003mxp.1	+	23	8540	c.8261G>A	c.(8260-8262)gGg>gAg	p.G2754E	DSP_uc003mxq.1_Missense_Mutation_p.G2155E|DSP_uc021yle.1_Missense_Mutation_p.G2311E	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2754	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)		ATCCGGAAGGGGTTCATAGAT	0.542000														109			53		0	0	1	0	0
STC1	6781	broad.mit.edu	37	8	23708982	23708982	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr8:23708982G>A	uc003xdw.1	-	2	608	c.324C>T	c.(322-324)ttC>ttT	p.F108F		NM_003155	NP_003146	P52823	STC1_HUMAN	Homo sapiens stanniocalcin 1 (STC1), mRNA.	108					cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		GAATGGCGAGGAAGACCTTGG	0.527000														10			49		0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76461483	76461483	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr16:76461483C>T	uc002fex.1	+	2	673	c.534C>T	c.(532-534)ttC>ttT	p.F178F	CNTNAP4_uc002feu.1_Silent_p.F174F|CNTNAP4_uc002fev.1_Silent_p.F87F|CNTNAP4_uc010chb.1_Silent_p.F150F|CNTNAP4_uc002few.2_Silent_p.F150F	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	175					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						TCGAAGTGTTCGGATGTGCAT	0.393000														30			18		0	0	1	0	0
SYCP1	6847	broad.mit.edu	37	1	115401232	115401232	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:115401232G>A	uc001efr.3	+	5	565	c.356G>A	c.(355-357)tGg>tAg	p.W119*	SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Nonsense_Mutation_p.W119*|SYCP1_uc009wgw.3_Nonsense_Mutation_p.W119*	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	119					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATAAAAAAATGGAAAGTAAGT	0.328000														70			41		0	0	1	0	0
NR1H2	7376	broad.mit.edu	37	19	50882336	50882336	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:50882336C>T	uc010enw.3	+	6	1294	c.825C>T	c.(823-825)atC>atT	p.I275I	NR1H2_uc002prv.4_Intron|NR1H2_uc002psa.4_Silent_p.I178I	NM_007121	NP_009052	P55055	NR1H2_HUMAN	Homo sapiens nuclear receptor subfamily 1, group H, member 2 (NR1H2), mRNA.	275	Ligand-binding (Potential).				negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		AGCTGGCCATCATCTCAGTCC	0.642000														115			127		0	0	1	0	0
KCNK9	51305	broad.mit.edu	37	8	140630564	140630564	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr8:140630564G>A	uc003yvf.1	-	1	1126	c.1062C>T	c.(1060-1062)atC>atT	p.I354I	KCNK9_uc003yvg.1_Silent_p.I354I|KCNK9_uc003yve.1_Non-coding_Transcript	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	Homo sapiens potassium channel, subfamily K, member 9 (KCNK9), mRNA.	354						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			ACCCAGGAGAGATGGAGCTAA	0.502000														128			174		0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42531060	42531060	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr18:42531060G>A	uc010dni.3	+	3	2051	c.1755G>A	c.(1753-1755)aaG>aaA	p.K585K		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	585						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CAGTCAAAAAGAAGCGGGGAC	0.537000									Schinzel-Giedion syndrome					105			75		0	0	1	0	0
LOC100288778	100288778	broad.mit.edu	37	12	88651	88651	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:88651A>G	uc010scy.2	+	5	715	c.160A>G	c.(160-162)Agc>Ggc	p.S54G	LOC100288778_uc010scz.2_Non-coding_Transcript|LOC100288778_uc010sdb.1_Non-coding_Transcript|LOC100288778_uc010sdc.1_Non-coding_Transcript|LOC100288778_uc010sdd.2_Missense_Mutation_p.S54G|LOC100288778_uc010sde.2_Missense_Mutation_p.S54G|LOC100288778_uc010sdf.2_Missense_Mutation_p.S54G|LOC100288778_uc010sdg.2_Missense_Mutation_p.S54G|LOC100288778_uc010sdh.2_Non-coding_Transcript					Homo sapiens WAS protein family homolog 1 pseudogene (LOC100288778), non-coding RNA.																		TGACCTGCCCAGCATTGCCAA	0.587000														49			3		0	0	1	0	0
C14orf166B	145497	broad.mit.edu	37	14	77332334	77332334	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:77332334C>T	uc001xsx.2	+	11	1389	c.1275C>T	c.(1273-1275)atC>atT	p.I425I	C14orf166B_uc010asn.1_Silent_p.I185I|C14orf166B_uc001xsw.2_Non-coding_Transcript	NM_194287	NP_919263	Q0VAA2	CN16B_HUMAN	Homo sapiens chromosome 14 open reading frame 166B (C14orf166B), mRNA.	425										breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		AACACAAAATCACGATCGTGG	0.502000														15			6		0	0	1	0	0
VAT1L	57687	broad.mit.edu	37	16	77910323	77910323	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr16:77910323G>A	uc002ffg.1	+	4	876	c.779G>A	c.(778-780)gGa>gAa	p.G260E		NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN	Homo sapiens vesicle amine transport protein 1 homolog (T. californica)-like (VAT1L), mRNA.	260							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						GACAACACTGGAAAAGGTCTC	0.463000														146			95		0	0	1	0	0
L32131	0	broad.mit.edu	37	17	58511558	58511558	+	RNA	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:58511558C>T	uc002iyr.1	-	0		c.1800G>A								Homo sapiens cDNA FLJ33664 fis, clone BRAMY2027451, moderately similar to 60S RIBOSOMAL PROTEIN L12.																		TCGTTGGGGTCGAACTTTGGC	0.577000														16			9		0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142651298	142651298	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:142651298G>A	uc003wcb.3	-	7	1107	c.897C>T	c.(895-897)ttC>ttT	p.F299F		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	299					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TGACCATCTGGAAGAGCTTGC	0.552000														24			22		0	0	1	0	0
PWWP2B	170394	broad.mit.edu	37	10	134219018	134219018	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr10:134219018C>T	uc001lll.4	+	1	1043	c.1014C>T	c.(1012-1014)caC>caT	p.H338H	PWWP2B_uc009ybe.3_Silent_p.H338H	NM_138499	NP_612508	Q6NUJ5	PWP2B_HUMAN	Homo sapiens PWWP domain containing 2B (PWWP2B), transcript variant 1, mRNA.	338										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		TGAAGCCCCACCGTCTGGGGG	0.726000														13			29		0	0	1	0	0
WNT8B	7479	broad.mit.edu	37	10	102242085	102242085	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr10:102242085A>C	uc001krb.3	+	5	682	c.568A>C	c.(568-570)Acc>Ccc	p.T190P		NM_003393	NP_003384	Q93098	WNT8B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 8B (WNT8B), mRNA.	190					Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|determination of dorsal identity|endoderm development|eye development|gastrulation|hypothalamus development|negative regulation of anterior neural cell fate commitment of the neural plate by Wnt receptor signaling pathway|otic placode formation|positive regulation of gene expression|response to estradiol stimulus	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4		Colorectal(252;0.117)		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)		TGGCAGCTGCACCACGCAGAC	0.647000											OREG0020440	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		9			25		0	0	1	0	0
ADAM30	11085	broad.mit.edu	37	1	120437341	120437341	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:120437341C>T	uc001eij.3	-	0	1807	c.1619G>A	c.(1618-1620)gGa>gAa	p.G540E		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	540	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		ATTTCGAATTCCTGTAATCTC	0.393000														62			51		0	0	1	0	0
GSTA1	2938	broad.mit.edu	37	6	52657657	52657657	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:52657657C>T	uc003paz.3	-	5	655	c.543G>A	c.(541-543)ctG>ctA	p.L181L	GSTA1_uc021zan.1_Silent_p.L181L	NM_145740	NP_665683	P08263	GSTA1_HUMAN	Homo sapiens glutathione S-transferase alpha 1 (GSTA1), mRNA.	181	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12	Lung NSC(77;0.118)				Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)	GGGTCACCTTCAGCAGAGGGA	0.542000														269			114		0	0	1	0	0
EIF2AK4	440275	broad.mit.edu	37	15	40241392	40241392	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr15:40241392C>T	uc001zkm.1	+	3	486	c.436C>T	c.(436-438)Cat>Tat	p.H146Y	EIF2AK4_uc001zkl.3_Missense_Mutation_p.H146Y	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	Homo sapiens eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4), mRNA.	146					translation	cytosolic ribosome	ATP binding|aminoacyl-tRNA ligase activity|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		CAAGTCTTTTCATGAAGAAAT	0.498000														99			96		0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36722679	36722679	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr22:36722679C>T	uc003apg.3	-	4	777	c.546G>A	c.(544-546)gaG>gaA	p.E182E	MYH9_uc003aph.1_Silent_p.E46E|MYH9_uc003api.1_Silent_p.E182E	NM_002473	NP_002464	P35579	MYH9_HUMAN	Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA.	182	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TCTTGGTGTTCTCCGTCTTGC	0.587000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated					29			164		0	0	1	0	0
ACY3	91703	broad.mit.edu	37	11	67410242	67410242	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:67410242C>T	uc001omq.3	-	7	1084	c.913G>A	c.(913-915)Gtg>Atg	p.V305M		NM_080658	NP_542389	Q96HD9	ACY3_HUMAN	Homo sapiens aspartoacylase (aminocyclase) 3 (ACY3), mRNA.	305					interspecies interaction between organisms	apical plasma membrane|cytoplasm	hydrolase activity, acting on ester bonds|metal ion binding			endometrium(1)|lung(5)|prostate(2)	8					L-Aspartic Acid(DB00128)	ATGGCAGGCACGGTGAATGTG	0.577000														113			89		0	0	1	0	0
GNAI3	2773	broad.mit.edu	37	1	110091367	110091367	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:110091367G>A	uc001dxz.2	+	0	182	c.25G>A	c.(25-27)Gac>Aac	p.D9N		NM_006496	NP_006487	P08754	GNAI3_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3 (GNAI3), mRNA.	9					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)		GAGCGCCGAAGACAAGGCGGC	0.647000														24			11		0	0	1	0	0
BMP5	653	broad.mit.edu	37	6	55739279	55739279	+	Silent	SNP	A	G	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:55739279A>G	uc003pcq.3	-	0	1097	c.385T>C	c.(385-387)Tta>Cta	p.L129L	BMP5_uc011dxf.2_Silent_p.L129L	NM_021073	NP_066551	P22003	BMP5_HUMAN	Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.	129					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			GTCCGAGATAACTGTATGCGA	0.522000														118			58		0	0	1	0	0
SLC1A6	6511	broad.mit.edu	37	19	15067485	15067485	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:15067485C>T	uc002naa.1	-	5	979	c.972G>A	c.(970-972)ggG>ggA	p.G324G	SLC1A6_uc010dzu.1_Intron|SLC1A6_uc010xod.1_Silent_p.G260G	NM_005071	NP_005062	P48664	EAA4_HUMAN	Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	324					synaptic transmission	integral to plasma membrane|membrane fraction	L-aspartate transmembrane transporter activity|high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	CCAGAATCTTCCCAGCAATCA	0.597000														83			41		0	0	1	0	0
DPP6	1804	broad.mit.edu	37	7	154561270	154561270	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:154561270C>T	uc003wlk.3	+	8	1156	c.1027C>T	c.(1027-1029)Cac>Tac	p.H343Y	DPP6_uc003wli.3_Missense_Mutation_p.H279Y|DPP6_uc003wlm.3_Missense_Mutation_p.H281Y|DPP6_uc011kvq.2_Missense_Mutation_p.H236Y	NM_130797	NP_570629	P42658	DPP6_HUMAN	Homo sapiens dipeptidyl-peptidase 6 (DPP6), transcript variant 1, mRNA.	343					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	p.I343V(1)		NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GAAGCCCTACCACTATCCCAA	0.537000														17			9		0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30702970	30702970	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr8:30702970T>A	uc003xil.3	-	0	3564	c.3564A>T	c.(3562-3564)gaA>gaT	p.E1188D		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	1188										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CAATTTGATTTTCTTTTTCTA	0.313000														8			14		0	0	1	0	0
TBPL2	387332	broad.mit.edu	37	14	55903566	55903566	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:55903566G>A	uc001xby.3	-	1	321	c.321C>T	c.(319-321)acC>acT	p.T107T		NM_199047	NP_950248	Q6SJ96	TBPL2_HUMAN	Homo sapiens TATA box binding protein like 2 (TBPL2), mRNA.	107					multicellular organismal development|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						TATTTTCCTGGGTAACTTCAT	0.428000														61			29		0	0	1	0	0
PUS10	150962	broad.mit.edu	37	2	61238962	61238962	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:61238962G>A	uc010fci.3	-	1	124	c.64C>T	c.(64-66)Cca>Tca	p.P22S	PUS10_uc002sao.3_Missense_Mutation_p.P22S|PUS10_uc010ypk.2_5'UTR|PUS10_uc002sap.1_Non-coding_Transcript|PUS10_uc002saq.1_Non-coding_Transcript	NM_144709	NP_653310	Q3MIT2	PUS10_HUMAN	Homo sapiens pseudouridylate synthase 10 (PUS10), mRNA.	22					pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			ATACATCTTGGACAAGTACCA	0.328000														48			29		0	0	1	0	0
ZNF528	84436	broad.mit.edu	37	19	52919060	52919060	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:52919060C>T	uc002pzh.3	+	6	1381	c.955C>T	c.(955-957)Cat>Tat	p.H319Y	ZNF528_uc002pzi.3_Missense_Mutation_p.H86Y	NM_032423	NP_115799	Q3MIS6	ZN528_HUMAN	Homo sapiens zinc finger protein 528 (ZNF528), mRNA.	319					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		TCAAAAAATTCATACTGGAGA	0.378000														60			36		0	0	1	0	0
SHPRH	257218	broad.mit.edu	37	6	146256182	146256182	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:146256182T>C	uc003qlf.3	-	12	3250	c.2851A>G	c.(2851-2853)Aag>Gag	p.K951E	SHPRH_uc003qle.3_Missense_Mutation_p.K951E|SHPRH_uc003qlg.1_Missense_Mutation_p.K507E|SHPRH_uc003qlj.1_Missense_Mutation_p.K840E|SHPRH_uc003qlh.3_5'Flank	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	Homo sapiens SNF2 histone linker PHD RING helicase (SHPRH), transcript variant 1, mRNA.	951					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TCAGAAATCTTCCTGAGTTTT	0.512000														17			43		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176564602	176564602	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:176564602G>A	uc001gkz.3	+	2	3026	c.1862G>A	c.(1861-1863)tGg>tAg	p.W621*	PAPPA2_uc001gky.1_Nonsense_Mutation_p.W621*|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	621	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.W621*(1)|p.S620F(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGCTACTCCTGGAACCGCAGG	0.602000														64			35		0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92734676	92734676	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:92734676C>T	uc003umf.3	-	2	1005	c.735G>A	c.(733-735)ggG>ggA	p.G245G	SAMD9_uc003umg.3_Silent_p.G245G|SAMD9_uc022ahg.1_Silent_p.G245G	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	245						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			CAACAATTTTCCCATGGGGTT	0.378000														122			62		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8465627	8465627	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr9:8465627C>T	uc003zkk.3	-	31	4296	c.3553G>A	c.(3553-3555)Gaa>Aaa	p.E1185K	PTPRD_uc003zkp.3_Missense_Mutation_p.E774K|PTPRD_uc003zkq.3_Missense_Mutation_p.E774K|PTPRD_uc003zkr.3_Missense_Mutation_p.E769K|PTPRD_uc003zks.3_Missense_Mutation_p.E764K|PTPRD_uc022bdj.1_Missense_Mutation_p.E771K	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	1185					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AATTCAACTTCTCTCCCATAA	0.418000										TSP Lung(15;0.13)				17			45		0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92732610	92732610	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:92732610G>A	uc003umf.3	-	2	3071	c.2801C>T	c.(2800-2802)tCa>tTa	p.S934L	SAMD9_uc003umg.3_Missense_Mutation_p.S934L|SAMD9_uc022ahg.1_Missense_Mutation_p.S934L	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	934						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			CTGTGATAGTGAAATGGTGGT	0.398000														21			13		0	0	1	0	0
INSM2	84684	broad.mit.edu	37	14	36004978	36004978	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:36004978C>T	uc001wth.1	+	0	1731	c.1520C>T	c.(1519-1521)cCt>cTt	p.P507L		NM_032594	NP_115983	Q96T92	INSM2_HUMAN	Homo sapiens insulinoma-associated 2 (INSM2), mRNA.	507					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	10	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		GCGGGGGCTCCTCCCGAAACG	0.627000														21			16		0	0	1	0	0
GAB3	139716	broad.mit.edu	37	X	153944425	153944425	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:153944425G>A	uc004fmk.1	-	1	300	c.252C>T	c.(250-252)ttC>ttT	p.F84F	GAB3_uc004fmj.1_Silent_p.F84F|GAB3_uc010nve.1_Silent_p.F84F|GAB3_uc004fml.1_5'UTR	NM_001081573	NP_001075042	Q8WWW8	GAB3_HUMAN	Homo sapiens GRB2-associated binding protein 3 (GAB3), transcript variant 1, mRNA.	84	PH.									NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CAATGAACACGAAATTATTCT	0.512000														233			152		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179433974	179433974	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:179433974C>T	uc021vsy.1	-	274	69406	c.69181G>A	c.(69181-69183)Ggg>Agg	p.G23061R	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G16756R|TTN_uc021vta.1_Missense_Mutation_p.G16689R|TTN_uc021vtb.1_Missense_Mutation_p.G16564R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	23988	Fibronectin type-III 67.						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)			TTGGATCCCCCATCCAACAAA	0.393000														207			125		0	0	1	0	0
OR8H3	390152	broad.mit.edu	37	11	55889910	55889910	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:55889910C>T	uc001nii.1	+	0	62	c.62C>T	c.(61-63)tCt>tTt	p.S21F		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 3 (OR8H3), mRNA.	21					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)					CTGTCAGACTCTGAAGAGGTC	0.443000														163			121		0	0	1	0	0
FAM3A	60343	broad.mit.edu	37	X	153735629	153735629	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:153735629C>T	uc004flt.2	-	8	1070	c.544G>A	c.(544-546)Gag>Aag	p.E182K	FAM3A_uc011mzp.2_Missense_Mutation_p.E151K|FAM3A_uc022cih.1_Missense_Mutation_p.E130K|FAM3A_uc004flw.2_Missense_Mutation_p.E168K|FAM3A_uc004fls.2_Missense_Mutation_p.E168K	NM_001171133	NP_001164604	P98173	FAM3A_HUMAN	Homo sapiens family with sequence similarity 3, member A (FAM3A), transcript variant 3, mRNA.	168						extracellular region				kidney(2)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTGCCCAGCTCACTGAAGAGC	0.597000														50			27		0	0	1	0	0
FGF19	9965	broad.mit.edu	37	11	69514186	69514186	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:69514186G>A	uc001opf.3	-	2	957	c.495C>T	c.(493-495)ttC>ttT	p.F165F		NM_005117	NP_005108	O95750	FGF19_HUMAN	Homo sapiens fibroblast growth factor 19 (FGF19), mRNA.	165					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of bile acid biosynthetic process|nervous system development|positive regulation of ERK1 and ERK2 cascade|positive regulation of JNK cascade|positive regulation of cell proliferation|positive regulation of glucose import	extracellular region	fibroblast growth factor receptor binding|growth factor activity			large_intestine(2)|lung(2)|skin(2)	6	all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;3.05e-56)|all cancers(3;2.69e-50)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)			GCATGGGCAGGAAATGAGAGA	0.587000														117			66		0	0	1	0	0
RBMS1	5937	broad.mit.edu	37	2	161143509	161143509	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:161143509G>C	uc002ubo.3	-	6	1171	c.727C>G	c.(727-729)Cca>Gca	p.P243A	RBMS1_uc002ubn.3_Missense_Mutation_p.P243A|RBMS1_uc002ubi.4_Missense_Mutation_p.P243A|RBMS1_uc002ubm.3_Missense_Mutation_p.P210A|RBMS1_uc002ubp.3_Missense_Mutation_p.P243A|RBMS1_uc010fox.2_Missense_Mutation_p.P243A	NM_016836	NP_058520	P29558	RBMS1_HUMAN	Homo sapiens RNA binding motif, single stranded interacting protein 1 (RBMS1), transcript variant 1, mRNA.	243					DNA replication|RNA processing	nucleus	RNA binding|double-stranded DNA binding|nucleotide binding|protein binding|single-stranded DNA binding		PLA2R1/RBMS1(2)								CTATGCCATGGTCTTCCATTA	0.453000														157			115		0	0	1	0	0
SLC39A7	7922	broad.mit.edu	37	6	33169894	33169894	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:33169894C>T	uc003odf.3	+	3	743	c.626C>T	c.(625-627)tCc>tTc	p.S209F	RXRB_uc003odb.3_5'Flank|RXRB_uc003odc.3_5'Flank|RXRB_uc011dqr.2_5'Flank|RXRB_uc011dqs.1_5'Flank|RXRB_uc011dqt.1_5'Flank|RXRB_uc011dqu.1_5'Flank|SLC39A7_uc003odg.3_Missense_Mutation_p.S209F|SLC39A7_uc011dqv.2_Missense_Mutation_p.S84F|HSD17B8_uc003odi.1_5'Flank	NM_001077516	NP_008910	Q92504	S39A7_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 7 (SLC39A7), transcript variant 2, mRNA.	209						endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CATGGACACTCCCACAGTGGT	0.547000														120			46		0	0	1	0	0
TCL1A	8115	broad.mit.edu	37	14	96178734	96178734	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:96178734C>T	uc001yfc.4	-	2	251	c.121_splice	c.e2-1	p.I41_splice	TCL1A_uc001yfb.4_Splice_Site_p.I41_splice	NM_001098725	NP_068801	P56279	TCL1A_HUMAN	Homo sapiens T-cell leukemia/lymphoma 1A (TCL1A), transcript variant 2, mRNA.	41					multicellular organismal development	endoplasmic reticulum|microsome				haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		TATCCTTTATCTGAGGAGAAG	0.577000			T	TRA@	T-CLL									34			35		0	0	1	0	0
TTLL6	284076	broad.mit.edu	37	17	46847149	46847149	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:46847149C>T	uc021tzm.1	-	13	2386	c.2351G>A	c.(2350-2352)gGg>gAg	p.G784E	TTLL6_uc002iob.3_Missense_Mutation_p.G477E|TTLL6_uc010dbi.3_Intron|TTLL6_uc002ioc.3_Missense_Mutation_p.G537E|TTLL6_uc002iod.3_Intron	NM_001130918	NP_001124390	Q8N841	TTLL6_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 6 (TTLL6), transcript variant 1, mRNA.	736						cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GGAGAGCTTCCCACTCAGTTG	0.498000														70			37		0	0	1	0	0
RFPL1	5988	broad.mit.edu	37	22	29837973	29837973	+	Silent	SNP	T	C	C	rs61731583		TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr22:29837973T>C	uc003afn.3	+	1	1025	c.816T>C	c.(814-816)agT>agC	p.S272S	RFPL1-AS1_uc003afm.2_Non-coding_Transcript	NM_021026	NP_066306	O75677	RFPL1_HUMAN	Homo sapiens ret finger protein-like 1 (RFPL1), mRNA.	272	B30.2/SPRY.						zinc ion binding	p.S272S(2)		endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						CATTCAGGAGTGTCTCTGCTG	0.473000														98			5		0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121653046	121653046	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:121653046G>T	uc003vjy.3	+	11	4341	c.3946G>T	c.(3946-3948)Gtt>Ttt	p.V1316F	PTPRZ1_uc011knt.2_Intron|PTPRZ1_uc003vjz.3_Intron	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	1316					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TGCTACACCTGTTTTATCAAT	0.368000														58			3		1	1	1	1	0
PGR	5241	broad.mit.edu	37	11	100920673	100920673	+	Silent	SNP	T	C	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:100920673T>C	uc001pgh.2	-	5	3218	c.2475A>G	c.(2473-2475)ttA>ttG	p.L825L	PGR_uc001pgg.2_Silent_p.L206L|PGR_uc001pgi.2_Silent_p.L723L|PGR_uc009yww.1_Intron|PGR_uc001pgj.2_Non-coding_Transcript|PGR_uc009ywx.1_Non-coding_Transcript	NM_000926	NP_000917	P06401	PRGR_HUMAN	Homo sapiens progesterone receptor (PGR), transcript variant 2, mRNA.	825	Steroid-binding.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	p.L825L(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	TATTAAGAAGTAACAATACTT	0.328000														43			32		0	0	1	0	0
OR2T11	127077	broad.mit.edu	37	1	248790085	248790085	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:248790085C>T	uc001ier.1	-	0	345	c.345G>A	c.(343-345)atG>atA	p.M115I		NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 11 (OR2T11), mRNA.	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	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)			AGTCATAGGCCATGAGGCCCA	0.512000														90			37		0	0	1	0	0
UGT2B17	7367	broad.mit.edu	37	4	69416513	69416513	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr4:69416513C>T	uc021xov.1	-	4	1238	c.1195G>A	c.(1195-1197)Gat>Aat	p.D399N		NM_001077	NP_001068	O75795	UDB17_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B17 (UGT2B17), mRNA.	399					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.A398A(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						TCATGTTGATCCGCAAACAAG	0.458000														147			48		0	0	1	0	0
C11orf35	256329	broad.mit.edu	37	11	556900	556900	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:556900C>T	uc001lpx.3	-	7	974	c.911G>A	c.(910-912)cGg>cAg	p.R304Q	AX748330_uc001lpy.3_5'Flank|BC031953_uc001lpz.3_5'Flank	NM_173573	NP_775844	Q8IXW0	CK035_HUMAN	Homo sapiens chromosome 11 open reading frame 35 (C11orf35), mRNA.	304										NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCGGTGGTCCCGGGGCGGGTG	0.687000														5			6		0	0	1	0	0
BCL9	607	broad.mit.edu	37	1	147094285	147094285	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:147094285C>G	uc001epq.3	+	8	3856	c.3116C>G	c.(3115-3117)tCc>tGc	p.S1039C	BCL9_uc010ozr.1_Missense_Mutation_p.S965C	NM_004326	NP_004317	O00512	BCL9_HUMAN	Homo sapiens B-cell CLL/lymphoma 9 (BCL9), mRNA.	1039	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GATGACGACTCCCCTCCAGCT	0.473000			T	"""IGH@, IGL@"""	B-ALL									129			75		0	0	1	0	0
RFX4	5992	broad.mit.edu	37	12	107048104	107048104	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:107048104C>T	uc001tlt.3	+	3	457	c.317C>T	c.(316-318)cCt>cTt	p.P106L	LOC100287944_uc021rdg.1_Intron|RFX4_uc001tlr.3_Missense_Mutation_p.P97L|RFX4_uc010swv.2_Non-coding_Transcript|RFX4_uc001tls.3_Missense_Mutation_p.P106L	NM_001206691	NP_001193620	Q33E94	RFX4_HUMAN	Homo sapiens regulatory factor X, 4 (influences HLA class II expression) (RFX4), transcript variant 4, mRNA.	97					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						GATACCCAACCTGTCAATGCT	0.483000														59			50		0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70964873	70964873	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:70964873G>A	uc003pfg.4	-	22	1750	c.1591C>T	c.(1591-1593)Cct>Tct	p.P531S	COL9A1_uc003pfe.4_Missense_Mutation_p.P104S|COL9A1_uc003pff.4_Missense_Mutation_p.P288S	NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	531	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TTGGGCCCAGGGAGACCAGGA	0.433000														204			131		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10399748	10399748	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:10399748C>T	uc002gmo.3	-	33	4869	c.4775G>A	c.(4774-4776)aGa>aAa	p.R1592K	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1592						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	p.R1592K(2)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						AATGTGGTTTCTCTTCATCTG	0.463000														152			94		0	0	1	0	0
KIAA1257	57501	broad.mit.edu	37	3	128706573	128706573	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:128706573G>A	uc003elj.4	-	3	749	c.553C>T	c.(553-555)Cac>Tac	p.H185Y	KIAA1257_uc003elg.1_Missense_Mutation_p.H185Y|KIAA1257_uc003eli.4_Missense_Mutation_p.H73Y	NM_020741	NP_065792	Q9ULG3	K1257_HUMAN	Homo sapiens KIAA1257 (KIAA1257), mRNA.	185										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						GTGATTTTGTGGAAATTTATT	0.438000														35			24		0	0	1	0	0
SPIN3	169981	broad.mit.edu	37	X	57021158	57021158	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:57021158G>A	uc022bxv.1	-	0	223	c.223C>T	c.(223-225)Cag>Tag	p.Q75*	SPIN3_uc004duu.4_Non-coding_Transcript|SPIN3_uc004duw.4_Non-coding_Transcript|SPIN3_uc004duv.4_Non-coding_Transcript|SPIN3_uc010nkj.2_Nonsense_Mutation_p.Q75*|SPIN3_uc004dux.1_Nonsense_Mutation_p.Q75*	NM_001010862	NP_001010862	Q5JUX0	SPIN3_HUMAN	Homo sapiens spindlin family, member 3 (SPIN3), transcript variant 1, mRNA.	75					gamete generation					central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4						ACAGGTACCTGATCCAGAACG	0.458000														187			141		0	0	1	0	0
SPOCK3	50859	broad.mit.edu	37	4	167656143	167656143	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr4:167656143C>T	uc011cjq.1	-	9	1324	c.1267G>A	c.(1267-1269)Gaa>Aaa	p.E423K	SPOCK3_uc021xuf.1_Missense_Mutation_p.E414K|SPOCK3_uc011cjr.1_Missense_Mutation_p.E294K|SPOCK3_uc003iri.1_Missense_Mutation_p.E414K|SPOCK3_uc011cjs.1_Missense_Mutation_p.E363K|SPOCK3_uc003irj.1_Missense_Mutation_p.E411K|SPOCK3_uc011cjt.1_Missense_Mutation_p.E322K|SPOCK3_uc011cjp.2_Missense_Mutation_p.E371K|SPOCK3_uc011cju.1_Missense_Mutation_p.E318K|SPOCK3_uc011cjv.1_Missense_Mutation_p.E316K	NM_001204353	NP_001191282	Q9BQ16	TICN3_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA.	414	Asp-rich.				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity	p.D423N(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		tcttcaatttcatcttcatca	0.353000														19			10		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	121980842	121980842	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:121980842C>T	uc003eew.4	+	3	1398	c.960C>T	c.(958-960)ttC>ttT	p.F320F	CASR_uc003eev.4_Silent_p.F320F	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	320					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)	CCATTGGATTCGCTCTGAAGG	0.577000														56			39		0	0	1	0	0
OR4C15	81309	broad.mit.edu	37	11	55322305	55322305	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:55322305C>T	uc010rig.2	+	0	523	c.523C>T	c.(523-525)Cgt>Tgt	p.R175C		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA.	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						GGCCTATGATCGTTATGTGGC	0.507000										HNSCC(20;0.049)				112			72		0	0	1	0	0
PDE1B	5153	broad.mit.edu	37	12	54971083	54971083	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:54971083G>A	uc001sgd.2	+	14	1975	c.1582G>A	c.(1582-1584)Gaa>Aaa	p.E528K	PDE1B_uc010soz.2_Missense_Mutation_p.E391K|PDE1B_uc010spa.1_Missense_Mutation_p.E487K|PDE1B_uc001sge.3_Missense_Mutation_p.E508K|PDE1B_uc001sgf.3_Missense_Mutation_p.E391K|PDE1B_uc009znq.3_Missense_Mutation_p.E324K	NM_000924	NP_000915	Q01064	PDE1B_HUMAN	Homo sapiens phosphodiesterase 1B, calmodulin-dependent (PDE1B), transcript variant 1, mRNA.	528					activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						TGCCGAAGATGAACACAACCA	0.562000														170			108		0	0	1	0	0
OGT	8473	broad.mit.edu	37	X	70782757	70782757	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:70782757G>A	uc004eaa.2	+	15	2276	c.2038G>A	c.(2038-2040)Gat>Aat	p.D680N	BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.2_Missense_Mutation_p.D670N|OGT_uc004eac.3_Missense_Mutation_p.D541N|OGT_uc004ead.3_Missense_Mutation_p.D299N	NM_181672	NP_858058	O15294	OGT1_HUMAN	Homo sapiens O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase) (OGT), transcript variant 1, mRNA.	680					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	MLL5-L complex|cytosol	enzyme activator activity|protein N-acetylglucosaminyltransferase activity|protein binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					TATTATCACTGATCAGGAAAC	0.398000														142			81		0	0	1	0	0
CD180	4064	broad.mit.edu	37	5	66479530	66479530	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:66479530C>T	uc003juy.2	-	2	1289	c.1141G>A	c.(1141-1143)Gac>Aac	p.D381N		NM_005582	NP_005573	Q99467	CD180_HUMAN	Homo sapiens CD180 molecule (CD180), mRNA.	381					inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		GCCTCTATGTCATTATGGCTT	0.463000														96			64		0	0	1	0	0
CD93	22918	broad.mit.edu	37	20	23064935	23064935	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr20:23064935G>A	uc002wsv.3	-	0	2043	c.1895C>T	c.(1894-1896)cCa>cTa	p.P632L		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	632					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					AGCTCGCTCTGGAACCCAGGA	0.612000														141			118		0	0	1	0	0
RAI2	10742	broad.mit.edu	37	X	17819512	17819512	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:17819512G>A	uc022btm.1	-	0	619	c.619C>T	c.(619-621)Cct>Tct	p.P207S	RAI2_uc004cyf.3_Missense_Mutation_p.P207S|RAI2_uc004cyg.3_Missense_Mutation_p.P207S|RAI2_uc011miy.2_Missense_Mutation_p.P157S|RAI2_uc022btl.1_Missense_Mutation_p.P207S|RAI2_uc004cyh.4_Missense_Mutation_p.P207S|RAI2_uc010nfa.3_Missense_Mutation_p.P207S	NM_021785	NP_068557	Q9Y5P3	RAI2_HUMAN	Homo sapiens retinoic acid induced 2 (RAI2), transcript variant 2, mRNA.	207	Pro-rich.				embryo development			p.P206S(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					GCATAGCCAGGAGGAGGCTGA	0.632000														41			30		0	0	1	0	0
AL117485	0	broad.mit.edu	37	22	18844888	18844888	+	RNA	SNP	A	G	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr22:18844888A>G	uc002zoe.3	+	3		c.2142A>G			AL117485_uc002zof.3_5'Flank					Homo sapiens cDNA FLJ76361 complete cds.																		GCTCACGGAAATACAGCTTCA	0.587000														53			4		0	0	1	0	0
TBC1D3B	414059	broad.mit.edu	37	17	34499220	34499220	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:34499220C>T	uc002hky.2	-	6	641	c.491G>A	c.(490-492)gGa>gAa	p.G164E	DQ571391_uc002hla.1_5'Flank|DQ593188_uc021tvb.1_5'Flank|DQ586142_uc002hlc.3_5'Flank|DQ575686_uc021tvc.1_5'Flank|DQ580080_uc021tvd.1_5'Flank	NM_001001417	NP_001001417	A6NDS4	TBC3B_HUMAN	Homo sapiens TBC1 domain family, member 3B (TBC1D3B), mRNA.	164	Rab-GAP TBC.					intracellular	Rab GTPase activator activity	p.G164*(1)		endometrium(2)|lung(3)|pancreas(1)	6		Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TTACTTGGTTCCGTATCGATC	0.572000														415			106		0	0	1	0	0
PRSS35	167681	broad.mit.edu	37	6	84233954	84233954	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:84233954G>A	uc003pjz.3	+	1	1034	c.794G>A	c.(793-795)cGa>cAa	p.R265Q	PRSS35_uc010kbm.3_Missense_Mutation_p.R265Q|PRSS35_uc021zce.1_Missense_Mutation_p.R265Q	NM_153362	NP_699193	Q8N3Z0	PRS35_HUMAN	Homo sapiens protease, serine, 35 (PRSS35), transcript variant 2, mRNA.	265	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.A264T(1)		breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		GGCTGGGCACGAGGAGGCATG	0.532000														10			39		0	0	1	0	0
SLC36A2	153201	broad.mit.edu	37	5	150714950	150714950	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:150714950G>A	uc003lty.3	-	5	814	c.684C>T	c.(682-684)tcC>tcT	p.S228S	SLC36A2_uc003ltz.3_Non-coding_Transcript|SLC36A2_uc003lua.3_Silent_p.S30S|SLC36A2_uc010jhv.2_Silent_p.S228S	NM_181776	NP_861441	Q495M3	S36A2_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 2 (SLC36A2), mRNA.	228					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGCCAGCATGGAGAAGATGG	0.567000														59			44		0	0	1	0	0
PHKA1	5255	broad.mit.edu	37	X	71895921	71895921	+	Splice_Site	SNP	T	G	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:71895921T>G	uc004eax.4	-	6	919	c.618_splice	c.e6+1	p.K206_splice	PHKA1_uc004eay.4_Splice_Site_p.K206_splice|PHKA1_uc011mqi.2_Splice_Site_p.K206_splice	NM_002637	NP_002628	P46020	KPB1_HUMAN	Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant 1, mRNA.	206					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					GAAAATTACCTTTGCCATTCC	0.408000														86			59		0	0	1	0	0
BMP5	653	broad.mit.edu	37	6	55625271	55625271	+	Missense_Mutation	SNP	C	T	T	rs142884641		TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:55625271C>T	uc003pcq.3	-	4	1800	c.1088G>A	c.(1087-1089)cGg>cAg	p.R363Q	BMP5_uc011dxf.2_Missense_Mutation_p.R363Q	NM_021073	NP_066551	P22003	BMP5_HUMAN	Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.	363					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	p.R363W(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			TCCCAGATCCCGGAAGCTCAC	0.363000														98			43		0	0	1	0	0
BCAN	63827	broad.mit.edu	37	1	156626809	156626809	+	Silent	SNP	G	A	A	rs151238031		TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:156626809G>A	uc001fpp.3	+	9	2466	c.2130G>A	c.(2128-2130)gaG>gaA	p.E710E		NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	Homo sapiens brevican (BCAN), transcript variant 1, mRNA.	710	C-type lectin.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGAGCTGGGAGGAGGCAGAGA	0.652000														119			3		0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106523592	106523592	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:106523592C>T	uc003vdv.4	+	7	2829	c.2744C>T	c.(2743-2745)tCc>tTc	p.S915F	PIK3CG_uc003vdu.3_Missense_Mutation_p.S915F|PIK3CG_uc003vdw.3_Missense_Mutation_p.S915F	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	915	PI3K/PI4K.				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						AAAGAAAAATCCCCTACTGAA	0.423000														17			44		0	0	1	0	0
OR13A1	79290	broad.mit.edu	37	10	45799764	45799764	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr10:45799764G>A	uc001jcc.1	-	3	416	c.107C>T	c.(106-108)tCg>tTg	p.S36L	OR13A1_uc001jcd.1_Missense_Mutation_p.S32L|OR13A1_uc021ppq.1_Missense_Mutation_p.S36L	NM_001004297	NP_001004297	Q8NGR1	O13A1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily A, member 1 (OR13A1), mRNA.	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S36S(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						TGGGTGCTCCGAAAAGCCCTG	0.532000														11			46		0	0	1	0	0
ZC3H6	376940	broad.mit.edu	37	2	113067660	113067660	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:113067660G>A	uc002thq.1	+	3	929	c.535G>A	c.(535-537)Gaa>Aaa	p.E179K		NM_198581	NP_940983	P61129	ZC3H6_HUMAN	Homo sapiens zinc finger CCCH-type containing 6 (ZC3H6), mRNA.	179							nucleic acid binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						GCAAGCTAAAGAAACCTCAAA	0.373000														18			15		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41514563	41514563	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr20:41514563G>A	uc002xkg.3	-	1	282	c.98C>T	c.(97-99)tCc>tTc	p.S33F	PTPRT_uc010ggj.3_Missense_Mutation_p.S33F	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	33	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)				CTCATCAAAGGAACAGCCACC	0.478000														75			40		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8138105	8138105	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:8138105G>C	uc002mjf.3	-	60	7796	c.7779C>G	c.(7777-7779)tgC>tgG	p.C2593W	FBN3_uc002mje.3_Missense_Mutation_p.C389W	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	2593	EGF-like 43; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AGGGGCAGACGCAGCGGAAGC	0.647000														52			34		0	0	1	0	0
ZNF18	7566	broad.mit.edu	37	17	11886657	11886657	+	Silent	SNP	T	G	G	rs140979549	by1000genomes	TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:11886657T>G	uc002gng.1	-	7	1424	c.819A>C	c.(817-819)atA>atC	p.I273I	ZNF18_uc002gnh.1_Silent_p.I273I|ZNF18_uc002gni.1_Silent_p.I272I	NM_144680	NP_653281	P17022	ZNF18_HUMAN	Homo sapiens zinc finger protein 18 (ZNF18), mRNA.	273	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		CATGAAGGTATATTCCTGCCA	0.433000														123			79		0	0	1	0	0
MARK1	4139	broad.mit.edu	37	1	220804420	220804420	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:220804420A>C	uc009xdw.3	+	9	1550	c.953A>C	c.(952-954)gAa>gCa	p.E318A	MARK1_uc001hmn.4_Missense_Mutation_p.E318A|MARK1_uc010pun.2_Missense_Mutation_p.E318A|MARK1_uc001hmm.4_Missense_Mutation_p.E296A	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 1 (MARK1), mRNA.	318					intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.E317K(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		CATGAAGAGGAAGAACTAAAG	0.363000														110			56		0	0	1	0	0
HIPK1	204851	broad.mit.edu	37	1	114516050	114516050	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:114516050C>T	uc001eem.3	+	15	3710	c.3549C>T	c.(3547-3549)tcC>tcT	p.S1183S	HIPK1_uc001een.3_Silent_p.S1183S|HIPK1_uc001eeo.3_Silent_p.S809S|HIPK1_uc001eep.3_Silent_p.S789S|HIPK1_uc001eeq.3_Silent_p.S475S	NM_198268	NP_938010	Q86Z02	HIPK1_HUMAN	Homo sapiens homeodomain interacting protein kinase 1 (HIPK1), transcript variant 1, mRNA.	1183					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCACCCAATCCTACATTGGGT	0.547000														187			115		0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	407684	407684	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:407684A>C	uc003bot.3	+	14	2279	c.1637A>C	c.(1636-1638)cAt>cCt	p.H546P	CHL1_uc003bou.3_Missense_Mutation_p.H530P|CHL1_uc003bow.2_Missense_Mutation_p.H530P|CHL1_uc011asi.2_Missense_Mutation_p.H546P|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.	530	Ig-like C2-type 6.				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)		CCCAAATTGCATATGCTTGAA	0.348000														9			34		0	0	1	0	0
SHROOM4	57477	broad.mit.edu	37	X	50381252	50381252	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:50381252C>T	uc004dpe.2	-	2	352	c.326G>A	c.(325-327)gGa>gAa	p.G109E	SHROOM4_uc004dpd.3_Non-coding_Transcript|SHROOM4_uc004dpf.1_5'UTR	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	Homo sapiens shroom family member 4 (SHROOM4), transcript variant 1, mRNA.	109					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TTCAGGGCATCCCTCCAGCAG	0.582000														32			25		0	0	1	0	0
CEACAM21	90273	broad.mit.edu	37	19	42085743	42085743	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:42085743C>T	uc002ore.4	+	2	558	c.462C>T	c.(460-462)acC>acT	p.T154T	CEACAM21_uc002orc.1_Non-coding_Transcript|CEACAM21_uc002orf.2_Non-coding_Transcript|CEACAM21_uc002org.4_Silent_p.T154T	NM_001098506	NP_001091976	Q3KPI0	CEA21_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 21 (CEACAM21), transcript variant 1, mRNA.	154	Ig-like C2-type.					integral to membrane				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						CCAGCAGCACCACAGTCACAG	0.537000														74			67		0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103121867	103121867	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:103121867C>T	uc002tbz.4	+	3	1592	c.1135C>T	c.(1135-1137)Cac>Tac	p.H379Y		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	379					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GGGCAAGAATCACGAGTGGAA	0.537000														80			54		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9057582	9057582	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:9057582G>A	uc002mkp.3	-	2	30068	c.29864C>T	c.(29863-29865)aCc>aTc	p.T9955I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9957	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						GGTGGTGATGGTCATTTGTGT	0.498000														273			168		0	0	1	0	0
BMP10	27302	broad.mit.edu	37	2	69093103	69093103	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:69093103G>A	uc002sez.1	-	1	1094	c.935C>T	c.(934-936)gCc>gTc	p.A312V		NM_014482	NP_055297	O95393	BMP10_HUMAN	Homo sapiens bone morphogenetic protein 10 (BMP10), mRNA.	312					BMP signaling pathway|Notch signaling pathway|activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	Z disc|cell surface|extracellular space	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						TCTGATTCGGGCAGTGGAGTC	0.522000														35			31		0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	234106796	234106796	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:234106796G>A	uc010zmo.2	+	23	2815	c.2662G>A	c.(2662-2664)Gga>Aga	p.G888R	INPP5D_uc010zmp.2_Missense_Mutation_p.G887R	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	917					T cell receptor signaling pathway|apoptosis|blood coagulation|leukocyte migration	cytosol	SH3 domain binding|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		CAACTACATGGGAGTGGGGCC	0.622000														25			23		0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73962589	73962589	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:73962589G>A	uc004eby.3	-	2	2420	c.1803C>T	c.(1801-1803)tcC>tcT	p.S601S		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	601					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						GTGTCTTGATGGAGTCCGTGT	0.443000														19			16		0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28233311	28233311	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr10:28233311C>T	uc009xky.3	-	11	1681	c.1583G>A	c.(1582-1584)aGa>aAa	p.R528K	ARMC4_uc010qds.2_Missense_Mutation_p.R53K|ARMC4_uc010qdt.2_Missense_Mutation_p.R220K|ARMC4_uc001itz.3_Missense_Mutation_p.R528K|ARMC4_uc010qdu.1_Missense_Mutation_p.R220K	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	528							binding	p.R528R(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						AATATTCTGTCTGATTTGAGG	0.378000														65			40		0	0	1	0	0
CATSPER4	378807	broad.mit.edu	37	1	26526455	26526455	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:26526455G>A	uc010oez.2	+	6	893	c.893G>A	c.(892-894)gGc>gAc	p.G298D	CATSPER4_uc010oey.1_Missense_Mutation_p.G120D|CATSPER4_uc009vsf.3_Non-coding_Transcript	NM_198137	NP_937770	Q7RTX7	CTSR4_HUMAN	Homo sapiens cation channel, sperm associated 4 (CATSPER4), mRNA.	298					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		GCCTTCATTGGCATCAACCTG	0.517000														36			33		0	0	1	0	0
KRT1	3848	broad.mit.edu	37	12	53072387	53072387	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:53072387G>A	uc001sau.1	-	1	804	c.745C>T	c.(745-747)Caa>Taa	p.Q249*	KRT1_uc001sav.1_Nonsense_Mutation_p.Q249*	NM_006121	NP_006112	P04264	K2C1_HUMAN	Homo sapiens keratin 1 (KRT1), mRNA.	249	Coil 1B.|Rod.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding	p.D248N(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						AACCGAGATTGATCACTCTTC	0.468000														133			97		0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31595823	31595823	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:31595823C>T	uc003nvb.4	+	11	1821	c.1572C>T	c.(1570-1572)gtC>gtT	p.V524V	PRRC2A_uc011dnv.1_Intron|PRRC2A_uc003nvc.4_Silent_p.V524V	NM_080686	NP_542417	P48634	PRC2A_HUMAN	Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.	524	2 X type B repeats.|4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CACCTGCAGTCCCTAAAGAAC	0.602000														277			48		0	0	1	0	0
TIPRL	261726	broad.mit.edu	37	1	168160618	168160618	+	Silent	SNP	A	C	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:168160618A>C	uc001gfg.3	+	3	541	c.396A>C	c.(394-396)acA>acC	p.T132T	TIPRL_uc001gff.3_Silent_p.T132T	NM_152902	NP_690866	O75663	TIPRL_HUMAN	Homo sapiens TIP41, TOR signaling pathway regulator-like (S. cerevisiae) (TIPRL), transcript variant 1, mRNA.	132					DNA damage checkpoint|negative regulation of protein phosphatase type 2A activity	cytoplasm	protein binding			breast(1)|kidney(1)|large_intestine(1)|ovary(2)|skin(1)	6	all_hematologic(923;0.215)					TTGTACCTACAACAGATCATA	0.323000														61			48		0	0	1	0	0
DCN	1634	broad.mit.edu	37	12	91572281	91572281	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:91572281C>T	uc001tbt.3	-	1	303	c.49G>A	c.(49-51)Gga>Aga	p.G17R	DCN_uc001tbo.3_Missense_Mutation_p.G17R|DCN_uc001tbp.3_Missense_Mutation_p.G17R|DCN_uc001tbq.3_Missense_Mutation_p.G17R|DCN_uc001tbr.3_Missense_Mutation_p.G17R|DCN_uc001tbu.3_Missense_Mutation_p.G17R	NM_133503	NP_598010	P07585	PGS2_HUMAN	Homo sapiens decorin (DCN), transcript variant A2, mRNA.	17					organ morphogenesis	extracellular space				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						TGAAACGGTCCAGCCCAGGAA	0.473000											OREG0022021	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		56			48		0	0	1	0	0
MASP2	10747	broad.mit.edu	37	1	11087497	11087497	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:11087497C>T	uc001aru.3	-	10	1538	c.1506G>A	c.(1504-1506)ctG>ctA	p.L502L		NM_006610	NP_006601	O00187	MASP2_HUMAN	Homo sapiens mannan-binding lectin serine peptidase 2 (MASP2), transcript variant 1, mRNA.	502	Peptidase S1.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		ATAGTCTTTTCAGGGTGCCCA	0.443000														178			123		0	0	1	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21792827	21792827	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:21792827G>A	uc001wag.3	+	13	1813	c.1813G>A	c.(1813-1815)Gaa>Aaa	p.E605K	RPGRIP1_uc001wah.3_Missense_Mutation_p.E247K|RPGRIP1_uc001wai.3_Intron|RPGRIP1_uc001waj.1_Missense_Mutation_p.E70K|RPGRIP1_uc001wak.3_Missense_Mutation_p.E80K|RPGRIP1_uc010aim.3_Intron|RPGRIP1_uc001wal.3_Nonsense_Mutation_p.W13*|RPGRIP1_uc001wam.3_5'UTR	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA.	605					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		GTTATGTTTGGAAACACTGCC	0.483000														107			63		0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45744164	45744164	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:45744164C>T	uc003tne.4	+	16	2784	c.2766C>T	c.(2764-2766)atC>atT	p.I922I		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	922					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	TCAAGACCATCGGGAGCACCT	0.502000														71			45		0	0	1	0	0
SLC35F3	148641	broad.mit.edu	37	1	234367230	234367230	+	Silent	SNP	C	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:234367230C>A	uc001hvy.1	+	2	496	c.351C>A	c.(349-351)ggC>ggA	p.G117G	SLC35F3_uc001hwa.1_Silent_p.G48G	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	Homo sapiens solute carrier family 35, member F3 (SLC35F3), mRNA.	48					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)			TGGAGGCCGGCGGGAGAGCGA	0.746000														85			51		8.28887e-21	8.35852e-21	1	1	0
CSRNP3	80034	broad.mit.edu	37	2	166535621	166535621	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:166535621G>A	uc002udf.3	+	6	1492	c.1116G>A	c.(1114-1116)gaG>gaA	p.E372E	CSRNP3_uc002udg.3_Silent_p.E372E	NM_001172173	NP_079245	Q8WYN3	CSRN3_HUMAN	Homo sapiens cysteine-serine-rich nuclear protein 3 (CSRNP3), transcript variant 1, mRNA.	372	Glu-rich.				apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.E371D(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						CAGACgaggaggaggaggaag	0.542000														61			54		0	0	1	0	0
ARSF	416	broad.mit.edu	37	X	3019250	3019250	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:3019250G>A	uc022brz.1	+	7	1226	c.1090G>A	c.(1090-1092)Gga>Aga	p.G364R	ARSF_uc004cre.2_Missense_Mutation_p.G364R|ARSF_uc004crf.2_Missense_Mutation_p.G364R	NM_001201538	NP_001188467	P54793	ARSF_HUMAN	Homo sapiens arylsulfatase F (ARSF), transcript variant 2, mRNA.	364						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGGATGGAATGGAATATACAA	0.438000														146			80		0	0	1	0	0
USE1	55850	broad.mit.edu	37	19	17330493	17330493	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:17330493G>A	uc002nfo.2	+	7	711	c.651G>A	c.(649-651)acG>acA	p.T217T	USE1_uc010eal.1_3'UTR	NM_018467	NP_060937	Q9NZ43	USE1_HUMAN	Homo sapiens unconventional SNARE in the ER 1 homolog (S. cerevisiae) (USE1), mRNA.	217					lysosomal transport|protein catabolic process|protein transport|secretion by cell|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|endometrium(1)|lung(3)	6						AACTGAAGACGGAGTCAGAGC	0.532000														48			50		0	0	1	0	0
BRPF3	27154	broad.mit.edu	37	6	36168369	36168369	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:36168369C>T	uc003olv.4	+	1	494	c.270C>T	c.(268-270)tcC>tcT	p.S90S	BRPF3_uc010jwb.3_Silent_p.S90S|BRPF3_uc011dtj.2_Non-coding_Transcript|BRPF3_uc010jwc.3_Non-coding_Transcript|BRPF3_uc011dtk.2_Silent_p.S90S	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN	Homo sapiens bromodomain and PHD finger containing, 3 (BRPF3), mRNA.	90					histone H3 acetylation|platelet activation|platelet degranulation	MOZ/MORF histone acetyltransferase complex|cytosol|extracellular region	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CTGGCAAGTCCAAGAAACCCT	0.483000														121			49		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179635288	179635288	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:179635288C>T	uc021vsy.1	-	34	8456	c.8231G>A	c.(8230-8232)gGa>gAa	p.G2744E	TTN_uc021vsz.1_Missense_Mutation_p.G2698E|TTN_uc021vta.1_Missense_Mutation_p.G2698E|TTN_uc021vtb.1_Missense_Mutation_p.G2698E|TTN_uc002unb.2_Missense_Mutation_p.G2744E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2744							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)			CAGCACAACTCCATTTTTGAT	0.413000														119			89		0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123184124	123184124	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr4:123184124C>A	uc003ieh.3	+	40	7013	c.6968C>A	c.(6967-6969)tCc>tAc	p.S2323Y	KIAA1109_uc003iel.1_Missense_Mutation_p.S258Y|KIAA1109_uc003iek.2_Missense_Mutation_p.S942Y	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	2323					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AAAAGTAGCTCCCTAACGAGA	0.438000														30			22		1.28384e-07	1.28742e-07	1	1	0
MUM1L1	139221	broad.mit.edu	37	X	105449808	105449808	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:105449808C>T	uc022cca.1	+	0	383	c.383C>T	c.(382-384)tCa>tTa	p.S128L	MUM1L1_uc004emg.2_Missense_Mutation_p.S128L|MUM1L1_uc004emf.2_Missense_Mutation_p.S128L	NM_001171020	NP_001164491	Q5H9M0	MUML1_HUMAN	Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA.	128										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CAGTCCGATTCACCCCCTCAT	0.423000														43			31		0	0	1	0	0
RXFP2	122042	broad.mit.edu	37	13	32367214	32367214	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr13:32367214G>A	uc001utt.3	+	15	1846	c.1775G>A	c.(1774-1776)gGa>gAa	p.G592E	RXFP2_uc010aba.3_Missense_Mutation_p.G568E	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 2 (RXFP2), transcript variant 1, mRNA.	592						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		TATTCTCTTGGAATTTTCCTA	0.294000														55			30		0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54537566	54537566	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:54537566G>A	uc003dhf.3	+	4	477	c.429G>A	c.(427-429)ggG>ggA	p.G143G	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Silent_p.G49G|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Intron	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	143						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.G143G(2)|p.D142D(1)		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)		ACAAAGACGGGAATTTTTTGG	0.398000														24			64		0	0	1	0	0
RPL2B	0	broad.mit.edu	37	16	436904	436904	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr16:436904C>T	uc002cgx.3	+	0	242	c.214C>T	c.(214-216)Cgg>Tgg	p.R72W	LOC100134368_uc002cgw.1_Intron					SubName: Full=Putative uncharacterized protein;																		CACCTTCCAGCGGCCCAAGAC	0.552000														80			3		0	0	1	0	0
CDH22	64405	broad.mit.edu	37	20	44839107	44839107	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr20:44839107G>A	uc002xrm.2	-	5	1524	c.1125C>T	c.(1123-1125)ttC>ttT	p.F375F	CDH22_uc010ghk.1_Silent_p.F375F|CDH22_uc002xrn.2_Silent_p.F126F	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	Homo sapiens cadherin 22, type 2 (CDH22), mRNA.	375	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CCTGGTCGCGGAACGTGCCCA	0.711000														21			20		0	0	1	0	0
PWP2	5822	broad.mit.edu	37	21	45548195	45548195	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr21:45548195C>T	uc002zeb.3	+	18	2517	c.2427C>T	c.(2425-2427)tcC>tcT	p.S809S		NM_005049	NP_005040	Q15269	PWP2_HUMAN	Homo sapiens PWP2 periodic tryptophan protein homolog (yeast) (PWP2), mRNA.	809						cytoplasm|nucleolus	signal transducer activity			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		TAGCTTCCTCCTTTGAAGTGT	0.493000														96			67		0	0	1	0	0
SH3TC2	79628	broad.mit.edu	37	5	148407696	148407696	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:148407696G>A	uc003lpu.3	-	10	1751	c.1599C>T	c.(1597-1599)ctC>ctT	p.L533L	SH3TC2_uc003lpp.1_Non-coding_Transcript|SH3TC2_uc010jgw.3_Silent_p.L177L|SH3TC2_uc003lps.3_Non-coding_Transcript|SH3TC2_uc003lpt.3_Silent_p.L80L|SH3TC2_uc010jgx.3_Silent_p.L526L|SH3TC2_uc003lpv.1_Silent_p.L80L|SH3TC2_uc011dbz.1_Silent_p.L418L	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 2 (SH3TC2), mRNA.	533							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCGGCCCAGGAGGAAGCAGA	0.562000														156			90		0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55211104	55211104	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:55211104C>T	uc003tqk.3	+	2	593	c.347C>T	c.(346-348)tCc>tTc	p.S116F	EGFR_uc003tqh.3_Missense_Mutation_p.S116F|EGFR_uc003tqi.3_Missense_Mutation_p.S116F|EGFR_uc003tqj.3_Missense_Mutation_p.S116F|EGFR_uc022adm.1_Missense_Mutation_p.S116F|EGFR_uc010kzg.2_Missense_Mutation_p.S116F|EGFR_uc022adn.1_Missense_Mutation_p.S116F|EGFR_uc011kco.2_Missense_Mutation_p.S63F	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	116					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TACGAAAATTCCTATGCCTTA	0.463000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				73			57		0	0	1	0	0
PLCG2	5336	broad.mit.edu	37	16	81934290	81934290	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr16:81934290G>A	uc002fgt.3	+	13	1445	c.1267G>A	c.(1267-1269)Gaa>Aaa	p.E423K	PLCG2_uc010chg.1_Missense_Mutation_p.E423K	NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	423	PI-PLC X-box.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GGCCTTCAAGGAAGTATTTGG	0.607000														68			34		0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	148037355	148037355	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:148037355G>A	uc004fcp.3	+	10	2259	c.1780G>A	c.(1780-1782)Gag>Aag	p.E594K	AFF2_uc004fcq.3_Missense_Mutation_p.E584K|AFF2_uc004fcr.3_Missense_Mutation_p.E555K|AFF2_uc011mxb.2_Missense_Mutation_p.E559K|AFF2_uc004fcs.3_Missense_Mutation_p.E561K|AFF2_uc011mxc.2_Missense_Mutation_p.E235K	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	594					RNA splicing|brain development|mRNA processing|regulation of RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TCTCATTAGGGAGAAAGCCCG	0.473000														124			96		0	0	1	0	0
SULT1C4	27233	broad.mit.edu	37	2	108998302	108998302	+	Missense_Mutation	SNP	G	A	A	rs137946991		TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:108998302G>A	uc002tea.1	+	1	627	c.254G>A	c.(253-255)cGa>cAa	p.R85Q	SULT1C4_uc010ywr.1_Non-coding_Transcript|SULT1C4_uc002teb.1_Missense_Mutation_p.R85Q	NM_006588	NP_006579	O75897	ST1C4_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 4 (SULT1C4), mRNA.	85					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity	p.R85Q(4)|p.R85L(2)		endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						ACTCATCAACGATTTCCTTTC	0.398000														66			45		0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58206728	58206728	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr13:58206728C>T	uc001vhq.1	+	0	940	c.48C>T	c.(46-48)ctC>ctT	p.L16L	PCDH17_uc010aec.1_Silent_p.L16L	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	16					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.A15V(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CCCCTGCCCTCACTCTCAAGA	0.612000														15			16		0	0	1	0	0
SLC30A10	55532	broad.mit.edu	37	1	220089189	220089189	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:220089189G>A	uc001hlw.3	-	3	1271	c.1060C>T	c.(1060-1062)Cct>Tct	p.P354S	RNU5F-1_uc021pjd.1_Intron|SLC30A10_uc001hlu.1_Intron|SLC30A10_uc001hlv.3_Missense_Mutation_p.P109S|SLC30A10_uc001hlx.3_Missense_Mutation_p.P129S	NM_018713	NP_061183	Q6XR72	ZNT10_HUMAN	Homo sapiens solute carrier family 30, member 10 (SLC30A10), mRNA.	354					zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		CTGTCCTTAGGATACTTGATG	0.443000														115			177		0	0	1	0	0
ARSH	347527	broad.mit.edu	37	X	2936599	2936599	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:2936599C>T	uc011mhj.2	+	4	789	c.789C>T	c.(787-789)ctC>ctT	p.L263L		NM_001011719	NP_001011719	Q5FYA8	ARSH_HUMAN	Homo sapiens arylsulfatase family, member H (ARSH), mRNA.	263						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		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)				CTTTTCTCCTCTTTTTTTCCT	0.393000														81			52		0	0	1	0	0
CXCR2	3579	broad.mit.edu	37	2	219000374	219000374	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:219000374G>A	uc002vgz.2	+	3	1060	c.850G>A	c.(850-852)Gag>Aag	p.E284K	CXCR2_uc002vha.2_Missense_Mutation_p.E284K|CXCR2_uc002vhb.2_Missense_Mutation_p.E284K|CXCR2_uc021vwp.1_Missense_Mutation_p.E284K	NM_001168298	NP_001548	P25025	CXCR2_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 2 (CXCR2), transcript variant 2, mRNA.	284					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						GGTGATCCAGGAGACCTGTGA	0.597000														56			50		0	0	1	0	0
OR8H3	390152	broad.mit.edu	37	11	55890053	55890053	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:55890053T>A	uc001nii.1	+	0	205	c.205T>A	c.(205-207)Ttt>Att	p.F69I		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 3 (OR8H3), mRNA.	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F69C(1)|p.S68*(1)		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)					TCACCTGTCATTTATTGACCT	0.438000														479			67		0	0	1	0	0
LOC442132	442132	broad.mit.edu	37	5	7304358	7304358	+	RNA	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:7304358G>A	uc003jdy.2	-	2		c.353C>T								Homo sapiens golgin A6 family-like 1 pseudogene (LOC442132), non-coding RNA.																		TTTCAGCTGAGCTCGGTTCTG	0.557000														9			11		0	0	1	0	0
FGF5	2250	broad.mit.edu	37	4	81196149	81196150	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr4:81196149_81196150GG>AA	uc003hmd.3	+	1	679_680	c.442_443GG>AA	c.(442-444)gga>AAa	p.G148K	FGF5_uc003hme.3_Intron	NM_004464	NP_004455	P12034	FGF5_HUMAN	Homo sapiens fibroblast growth factor 5 (FGF5), transcript variant 1, mRNA.	148					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						GTCAAAAAAAGGAAAACTCCAT	0.327000														34			16		0	0	1	0	0
ZIC3	7547	broad.mit.edu	37	X	136649781	136649781	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:136649781G>A	uc004fak.3	+	0	1436	c.931G>A	c.(931-933)Gcg>Acg	p.A311T		NM_003413	NP_003404	O60481	ZIC3_HUMAN	Homo sapiens Zic family member 3 (ZIC3), mRNA.	311	Nuclear localization signal.				cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					GTCTTTCAAGGCGAAGTACAA	0.607000														176			106		0	0	1	0	0
ZNF334	55713	broad.mit.edu	37	20	45132920	45132920	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr20:45132920C>T	uc002xsa.3	-	2	705	c.243G>A	c.(241-243)gtG>gtA	p.V81V	ZNF334_uc002xsb.3_Silent_p.V20V|ZNF334_uc002xsd.3_Silent_p.V20V|ZNF334_uc002xsc.3_Silent_p.V58V|ZNF334_uc010ghl.3_Silent_p.V57V			Q9HCZ1	ZN334_HUMAN	Homo sapiens zinc finger protein 334 (ZNF334), transcript variant 2, mRNA.	58	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				ATTTGAAAATCACATCTGGTT	0.403000														42			25		0	0	1	0	0
OR52B2	255725	broad.mit.edu	37	11	6190746	6190746	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:6190746G>A	uc010qzy.2	-	0	811	c.811C>T	c.(811-813)Cct>Tct	p.P271S		NM_001004052	NP_001004052	Q96RD2	O52B2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 2 (OR52B2), mRNA.	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACATGTTGAGGAATATTACGC	0.463000														48			30		0	0	1	0	0
ZNF534	147658	broad.mit.edu	37	19	52941587	52941587	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:52941587C>T	uc002pzk.3	+	3	980	c.913C>T	c.(913-915)Cat>Tat	p.H305Y	ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.3_Missense_Mutation_p.H292Y	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN	Homo sapiens zinc finger protein 534 (ZNF534), transcript variant 2, mRNA.	305					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						TAGGAAAATTCATACTGGAGA	0.393000														34			30		0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553440	140553440	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:140553440G>A	uc003lit.3	+	0	1198	c.1024G>A	c.(1024-1026)Gat>Aat	p.D342N		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	342	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGATATAAACGATAATCGACC	0.448000														45			41		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34105144	34105144	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr15:34105144G>A	uc001zhi.3	+	72	10408	c.10338G>A	c.(10336-10338)aaG>aaA	p.K3446K	RYR3_uc010bar.3_Silent_p.K3441K	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	3446					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ATCCGGAAAAGACAGTGGAGC	0.483000														56			30		0	0	1	0	0
NOL10	79954	broad.mit.edu	37	2	10729252	10729252	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:10729252G>A	uc002raq.2	-	18	1886	c.1761C>T	c.(1759-1761)gtC>gtT	p.V587V	NOL10_uc010yje.1_Silent_p.V561V|NOL10_uc010yjf.1_Silent_p.V537V|NOL10_uc002rap.2_Silent_p.V537V	NM_024894	NP_079170	Q9BSC4	NOL10_HUMAN	Homo sapiens nucleolar protein 10 (NOL10), mRNA.	587						nucleolus						Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		GGGGCTTTAGGACTGTCTGCT	0.483000														77			47		0	0	1	0	0
CCDC77	84318	broad.mit.edu	37	12	527770	527770	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:527770C>T	uc001qig.3	+	4	561	c.381C>T	c.(379-381)cgC>cgT	p.R127R	CCDC77_uc009zdk.3_Silent_p.R95R|CCDC77_uc010sdp.2_Silent_p.R95R|CCDC77_uc010sdq.2_Silent_p.R95R	NM_032358	NP_001123620	Q9BR77	CCD77_HUMAN	Homo sapiens coiled-coil domain containing 77 (CCDC77), transcript variant 1, mRNA.	127						centrosome				cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			ATGTTTTACGCCTCTACTCAG	0.403000														112			80		0	0	1	0	0
REG1A	5967	broad.mit.edu	37	2	79350013	79350013	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:79350013C>T	uc010ysd.2	+	3	435	c.368C>T	c.(367-369)tCc>tTc	p.S123F	REG1A_uc002snz.3_Missense_Mutation_p.S123F	NM_002909	NP_002900	P05451	REG1A_HUMAN	Homo sapiens regenerating islet-derived 1 alpha (REG1A), mRNA.	123	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	p.K122T(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						TCCTACAAGTCCTGGGGCATT	0.547000														129			81		0	0	1	0	0
NDST3	9348	broad.mit.edu	37	4	119035981	119035981	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr4:119035981G>A	uc003ibx.3	+	3	1493	c.1090G>A	c.(1090-1092)Gga>Aga	p.G364R	NDST3_uc011cgf.1_Intron	NM_004784	NP_004775	O95803	NDST3_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 (NDST3), mRNA.	364	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.G364A(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						GGAAGATGAAGGAGATGACTG	0.418000														73			36		0	0	1	0	0
SNX24	28966	broad.mit.edu	37	5	122343405	122343405	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:122343405C>T	uc011cwo.2	+	6	640	c.471C>T	c.(469-471)gtC>gtT	p.V157V	SNX24_uc010jcy.3_3'UTR	NM_014035	NP_054754	Q9Y343	SNX24_HUMAN	Homo sapiens sorting nexin 24 (SNX24), mRNA.	157					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding			lung(5)	5		Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139)		TTGAAGGAGTCCTCCATGGGA	0.328000														133			85		0	0	1	0	0
PLEKHH1	57475	broad.mit.edu	37	14	68046546	68046546	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:68046546G>A	uc001xjl.1	+	21	3278	c.3136G>A	c.(3136-3138)Gat>Aat	p.D1046N	PLEKHH1_uc010tsw.1_Missense_Mutation_p.D614N|PLEKHH1_uc001xjn.1_Missense_Mutation_p.D561N|PLEKHH1_uc010tsx.1_5'UTR|PLEKHH1_uc001xjo.1_5'Flank|PLEKHH1_uc001xjp.1_5'Flank	NM_020715	NP_065766	Q9ULM0	PKHH1_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 (PLEKHH1), mRNA.	1046	FERM.					cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CTTCACGGACGATCCCTCGGG	0.587000														25			7		0	0	1	0	0
C17orf82	388407	broad.mit.edu	37	17	59489531	59489531	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:59489531C>A	uc002izh.1	+	0	420	c.195C>A	c.(193-195)gaC>gaA	p.D65E		NM_203425	NP_982249	Q86X59	CQ082_HUMAN	Homo sapiens chromosome 17 open reading frame 82 (C17orf82), mRNA.	65										cervix(1)|lung(1)	2						GCTCGCAGGACAGGGCGGCAG	0.746000											OREG0024630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		11			7		8.12818e-05	8.14326e-05	1	1	0
GCOM1	145781	broad.mit.edu	37	15	57929945	57929945	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr15:57929945G>T	uc002aei.3	+	8	1117	c.986G>T	c.(985-987)gGg>gTg	p.G329V	GCOM1_uc002aej.3_Missense_Mutation_p.G329V|GCOM1_uc002aek.3_Non-coding_Transcript|GCOM1_uc002ael.3_Non-coding_Transcript|GCOM1_uc002aem.3_Missense_Mutation_p.G329V|GCOM1_uc002aep.3_Non-coding_Transcript|GCOM1_uc010bfx.3_Non-coding_Transcript|GCOM1_uc002aeq.3_Non-coding_Transcript|GCOM1_uc002aen.3_Non-coding_Transcript|GCOM1_uc010bfy.3_Non-coding_Transcript|GCOM1_uc002aeo.3_Missense_Mutation_p.G329V	NM_001018100	NP_001018110	P0CAP1	GCOM1_HUMAN	Homo sapiens myocardial zonula adherens protein (MYZAP), transcript variant 1, mRNA.	329					intracellular signal transduction	I band|extrinsic to internal side of plasma membrane				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						GAAATGTCTGGGGAGTTAACT	0.378000														16			17		6.94344e-10	6.96926e-10	1	1	0
ST18	9705	broad.mit.edu	37	8	53045802	53045802	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr8:53045802C>T	uc003xqz.2	-	14	2516	c.2360G>A	c.(2359-2361)aGa>aAa	p.R787K	ST18_uc011ldq.1_Missense_Mutation_p.R434K|ST18_uc011ldr.1_Missense_Mutation_p.R752K|ST18_uc011lds.1_Missense_Mutation_p.R692K|ST18_uc003xra.2_Missense_Mutation_p.R787K	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	787						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.H786H(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				ATCCTACCTTCTGTGGGAAGC	0.498000														122			49		0	0	1	0	0
OR11G2	390439	broad.mit.edu	37	14	20665813	20665813	+	Silent	SNP	T	C	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:20665813T>C	uc010tlb.2	+	0	319	c.319T>C	c.(319-321)Ttg>Ctg	p.L107L		NM_001005503	NP_001005503	Q8NGC1	O11G2_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily G, member 2 (OR11G2), mRNA.	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		CTTCTCCTTCTTGGAGATATG	0.537000														88			68		0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157691385	157691385	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:157691385G>A	uc003wno.3	-	11	1889	c.1768C>T	c.(1768-1770)Ctt>Ttt	p.L590F	PTPRN2_uc003wnp.3_Missense_Mutation_p.L573F|PTPRN2_uc003wnq.3_Missense_Mutation_p.L561F|PTPRN2_uc003wnr.3_Missense_Mutation_p.L552F|PTPRN2_uc011kwa.2_Missense_Mutation_p.L613F	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	590						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)		CCGGTTTGAAGAATTTTCAGT	0.522000														257			162		0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20554316	20554316	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr16:20554316C>T	uc002dhj.4	-	12	1639	c.1429G>A	c.(1429-1431)Gag>Aag	p.E477K	ACSM2B_uc002dhk.4_Missense_Mutation_p.E477K|ACSM2B_uc010bwf.1_Missense_Mutation_p.E477K	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	477					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding	p.E477D(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TTCTCTACCTCCGAGGGTCCA	0.572000														97			62		0	0	1	0	0
FBLN2	2199	broad.mit.edu	37	3	13679062	13679062	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:13679062G>A	uc011avc.2	+	18	3721	c.3339_splice	c.e18-1	p.T1113_splice	FBLN2_uc011auz.2_Splice_Site_p.T1092_splice|FBLN2_uc011avb.2_Splice_Site_p.T1066_splice|FBLN2_uc011ava.2_Splice_Site_p.T1113_splice	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.	1066	Domain III.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.T532T(1)|p.T1113T(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CTCCCTGCAGGAAGTGCGAGC	0.657000														12			23		0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21129779	21129779	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr10:21129779C>T	uc001iqi.3	-	13	1625	c.1228_splice	c.e13-1	p.K410_splice	NEBL_uc001iqj.3_Splice_Site|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	410					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TATATTCTTTCTATGAGACAA	0.318000														12			14		0	0	1	0	0
TGFB1	7040	broad.mit.edu	37	19	41848150	41848150	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:41848150C>T	uc002oqh.2	-	3	1519	c.637G>A	c.(637-639)Gaa>Aaa	p.E213K		NM_000660	NP_000651	P01137	TGFB1_HUMAN	Homo sapiens transforming growth factor, beta 1 (TGFB1), mRNA.	213					ATP biosynthetic process|SMAD protein complex assembly|SMAD protein import into nucleus|active induction of host immune response by virus|cell cycle arrest|cell growth|cell-cell junction organization|chondrocyte differentiation|connective tissue replacement involved in inflammatory response wound healing|epidermal growth factor receptor signaling pathway|evasion of host defenses by virus|hemopoietic progenitor cell differentiation|induction of apoptosis|lymph node development|mitotic cell cycle G1/S transition checkpoint|negative regulation of DNA replication|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of cell-cell adhesion|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|negative regulation of macrophage cytokine production|negative regulation of mitotic cell cycle|negative regulation of protein phosphorylation|ossification involved in bone remodeling|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of MAP kinase activity|positive regulation of SMAD protein import into nucleus|positive regulation of blood vessel endothelial cell migration|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of fibroblast migration|positive regulation of interleukin-17 production|positive regulation of isotype switching to IgA isotypes|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein dephosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein secretion|protein export from nucleus|protein import into nucleus, translocation|receptor catabolic process|regulation of DNA binding|regulation of striated muscle tissue development|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|response to estradiol stimulus|response to progesterone stimulus|salivary gland morphogenesis|transforming growth factor beta receptor signaling pathway|viral infectious cycle	Golgi lumen|extracellular space|nucleus|platelet alpha granule lumen|proteinaceous extracellular matrix	growth factor activity|type II transforming growth factor beta receptor binding			endometrium(1)|large_intestine(2)|lung(4)|skin(1)	8					Hyaluronidase(DB00070)	CCCTCAATTTCCCCTGTAGGA	0.602000														13			11		0	0	1	0	0
AQP7	364	broad.mit.edu	37	9	33386084	33386084	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr9:33386084G>A	uc003zst.3	-	5	688	c.516C>T	c.(514-516)ttC>ttT	p.F172F	AQP7_uc003zsu.1_Silent_p.F115F|AQP7_uc010mjs.2_Silent_p.F80F|AQP7_uc010mjt.2_Silent_p.F80F|AQP7_uc011lny.1_Silent_p.F171F|AQP7_uc003zss.3_Silent_p.F80F|AQP7_uc011lnz.1_Silent_p.F80F|AQP7_uc011loa.1_Intron|AQP7_uc011lnx.1_Silent_p.F172F	NM_001170	NP_001161	O14520	AQP7_HUMAN	Homo sapiens aquaporin 7 (AQP7), mRNA.	172					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCTCATTCAGGAAGCCCCGCC	0.587000														61			3		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3235416	3235416	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:3235416G>A	uc004crg.4	-	5	6463	c.6306C>T	c.(6304-6306)ttC>ttT	p.F2102F		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2102	Ig-like C2-type 5.					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)				TCCCGTTGGGGAAAACAAACA	0.682000														13			14		0	0	1	0	0
CDYL2	124359	broad.mit.edu	37	16	80654688	80654688	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr16:80654688C>T	uc002ffs.3	-	3	1084	c.979G>A	c.(979-981)Gag>Aag	p.E327K		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	Homo sapiens chromodomain protein, Y-like 2 (CDYL2), mRNA.	327						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						CGAGTGCTCTCCTTTCGCCGG	0.562000														67			41		0	0	1	0	0
CD300LF	146722	broad.mit.edu	37	17	72694588	72694588	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:72694588G>A	uc002jlg.3	-	3	582	c.479C>T	c.(478-480)cCc>cTc	p.P160L	RAB37_uc002jlc.2_Intron|RAB37_uc002jld.2_Intron|RAB37_uc010dfu.3_Intron|CD300LF_uc002jlf.3_Missense_Mutation_p.P163L|CD300LF_uc010dfw.3_Intron|CD300LF_uc002jlh.3_Silent_p.A175A|CD300LF_uc002jli.3_Intron|CD300LF_uc010wra.2_Missense_Mutation_p.P175L|CD300LF_uc002jlj.1_Missense_Mutation_p.P178L	NM_139018	NP_620587	Q8TDQ1	CLM1_HUMAN	Homo sapiens CD300 molecule-like family member f (CD300LF), mRNA.	160						integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GAAGATGAGGGGCAGGAGGAC	0.572000														35			30		0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76752552	76752552	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr18:76752552G>A	uc002lmt.3	+	1	561	c.561G>A	c.(559-561)gcG>gcA	p.A187A	SALL3_uc010dra.3_5'Flank	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	187					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)		GCGCGCGCGCGGCAGGCGGCT	0.721000														6			6		0	0	1	0	0
SFTPC	6440	broad.mit.edu	37	8	22020245	22020245	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr8:22020245G>A	uc003xaw.4	+	5	1051	c.348_splice	c.e5+1	p.M116_splice	SFTPC_uc003xax.4_Splice_Site_p.M67_splice|SFTPC_uc003xay.4_Splice_Site_p.M67_splice|SFTPC_uc003xaz.3_Splice_Site_p.M67_splice|SFTPC_uc011kza.1_Splice_Site_p.M67_splice|SFTPC_uc022asz.1_5'Flank|BMP1_uc011kzb.2_5'Flank|BMP1_uc003xbf.3_5'Flank|BMP1_uc003xbb.3_5'Flank|BMP1_uc003xbc.3_5'Flank|BMP1_uc003xbd.3_5'Flank|BMP1_uc003xbe.3_5'Flank|BMP1_uc011kzc.2_5'Flank|BMP1_uc003xbg.3_5'Flank|BMP1_uc003xbh.3_5'Flank|BMP1_uc003xbi.3_5'Flank	NM_001172357	NP_001165828	P11686	PSPC_HUMAN	Homo sapiens surfactant protein C (SFTPC), transcript variant 3, mRNA.	67	BRICHOS.		A -> D (in SMDP2).		respiratory gaseous exchange	extracellular space				autonomic_ganglia(1)|large_intestine(1)|lung(1)	3				Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		ACACGGAGATGGTGAGAGGTG	0.592000														21			70		0	0	1	0	0
NOMO1	23420	broad.mit.edu	37	16	14947797	14947797	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr16:14947797C>T	uc002dcv.3	+	8	943	c.877C>T	c.(877-879)Ccg>Tcg	p.P293S		NM_014287	NP_055102	Q15155	NOMO1_HUMAN	Homo sapiens NODAL modulator 1 (NOMO1), mRNA.	293						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						CTTCCAGATTCCGTTCTATCG	0.438000														274			121		0	0	1	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77912712	77912712	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:77912712C>T	uc022bzi.1	-	0	1206	c.1206G>A	c.(1204-1206)ggG>ggA	p.G402G	ZCCHC5_uc004edc.1_Silent_p.G402G	NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN	Homo sapiens zinc finger, CCHC domain containing 5 (ZCCHC5), mRNA.	402							nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						AGGAACTTTTCCCTAATGGAT	0.502000														98			62		0	0	1	0	0
CYP3A7	1551	broad.mit.edu	37	7	99312215	99312215	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:99312215T>G	uc003uru.3	-	7	864	c.761A>C	c.(760-762)aAa>aCa	p.K254T	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.	254					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)					TTTTATCTGTTTTACAGATTT	0.308000														50			43		0	0	1	0	0
SIDT1	54847	broad.mit.edu	37	3	113286421	113286421	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:113286421C>T	uc021xcn.1	+	2	1030	c.379C>T	c.(379-381)Cgc>Tgc	p.R127C	SIDT1_uc011bif.1_Non-coding_Transcript|SIDT1_uc003eak.3_Missense_Mutation_p.R127C|SIDT1_uc011big.2_5'UTR	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN	Homo sapiens SID1 transmembrane family, member 1 (SIDT1), mRNA.	127						integral to membrane		p.R127C(2)		breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						AGAAGTGAGCCGCACCTTATG	0.478000														111			66		0	0	1	0	0
IFT43	112752	broad.mit.edu	37	14	76548655	76548655	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:76548655G>A	uc001xsg.2	+	4	362	c.328G>A	c.(328-330)Gat>Aat	p.D110N	IFT43_uc001xsf.2_Non-coding_Transcript|IFT43_uc010asl.1_Missense_Mutation_p.D105N|IFT43_uc010asm.1_Missense_Mutation_p.D105N|IFT43_uc010tve.2_Non-coding_Transcript	NM_052873	NP_443105	Q96FT9	IFT43_HUMAN	Homo sapiens intraflagellar transport 43 homolog (Chlamydomonas) (IFT43), transcript variant 1, mRNA.	105					cilium morphogenesis|intraflagellar retrograde transport					endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						TATCATTCCGGATCTGGAGGA	0.483000														310			257		0	0	1	0	0
SLC28A2	9153	broad.mit.edu	37	15	45555371	45555371	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr15:45555371G>A	uc001zva.2	+	4	440	c.375G>A	c.(373-375)aaG>aaA	p.K125K		NM_004212	NP_004203	O43868	S28A2_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 2 (SLC28A2), mRNA.	125					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity	p.K125N(2)		NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		TTTTGAAAAAGCTCCTGGGCA	0.458000														36			23		0	0	1	0	0
OR1L8	138881	broad.mit.edu	37	9	125330095	125330095	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr9:125330095C>T	uc004bmp.1	-	0	662	c.662G>A	c.(661-663)cGa>cAa	p.R221Q		NM_001004454	NP_001004454	Q8NGR8	OR1L8_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 8 (OR1L8), mRNA.	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R221*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						AGTGAGGATTCGTATATAAGA	0.428000														7			12		0	0	1	0	0
PLAUR	5329	broad.mit.edu	37	19	44153050	44153050	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:44153050A>C	uc002oxf.2	-	6	1226	c.1000T>G	c.(1000-1002)Tgg>Ggg	p.W334G	PLAUR_uc002oxd.2_Intron|PLAUR_uc002oxg.2_Missense_Mutation_p.W289G	NM_002659	NP_002650	Q03405	UPAR_HUMAN	Homo sapiens plasminogen activator, urokinase receptor (PLAUR), transcript variant 1, mRNA.	334					C-terminal protein lipidation|attachment of GPI anchor to protein|blood coagulation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis	anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane	U-plasminogen activator receptor activity|enzyme binding	p.L333F(1)		endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3)	20		Prostate(69;0.0153)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013)	GTTTAGGTCCAGAGGAGAGTG	0.632000														109			79		0	0	1	0	0
C11orf87	399947	broad.mit.edu	37	11	109294762	109294762	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:109294762C>T	uc021qqf.1	+	0	403	c.403C>T	c.(403-405)Ccc>Tcc	p.P135S	C11orf87_uc010rwb.2_Missense_Mutation_p.P135S	NM_207645	NP_997528	Q6NUJ2	CK087_HUMAN	Homo sapiens chromosome 11 open reading frame 87 (C11orf87), mRNA.	135						integral to membrane				breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						GGAGAGGCAGCCCCGGGACTC	0.716000														75			64		0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48794651	48794651	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr8:48794651G>A	uc003xqi.3	-	37	4838	c.4781C>T	c.(4780-4782)gCc>gTc	p.A1594V	PRKDC_uc003xqj.3_Missense_Mutation_p.A1594V	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	1595					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GTTCAAAACGGCACTCACCTG	0.393000								Non-homologous end-joining						67			144		0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33684053	33684053	+	Missense_Mutation	SNP	C	T	T	rs150194397		TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:33684053C>T	uc003jia.1	-	3	905	c.742G>A	c.(742-744)Gtg>Atg	p.V248M	ADAMTS12_uc010iuq.1_Missense_Mutation_p.V248M	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	248	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						AGTGTCTCCACCCATCTCTCC	0.522000										HNSCC(64;0.19)				116			90		0	0	1	0	0
DGKK	139189	broad.mit.edu	37	X	50146156	50146156	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:50146156C>T	uc010njr.2	-	6	1255	c.1211G>A	c.(1210-1212)gGa>gAa	p.G404E		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	Homo sapiens diacylglycerol kinase, kappa (DGKK), mRNA.	404					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					AGGCATGTTTCCTTCTACCCA	0.468000														17			12		0	0	1	0	0
C3orf15	89876	broad.mit.edu	37	3	119463002	119463002	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:119463002G>A	uc003ede.4	+	13	1938	c.1861G>A	c.(1861-1863)Gaa>Aaa	p.E621K	C3orf15_uc010hqz.3_Missense_Mutation_p.E559K|C3orf15_uc011bjd.2_Missense_Mutation_p.E495K|C3orf15_uc011bje.2_Missense_Mutation_p.E601K	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	Homo sapiens chromosome 3 open reading frame 15 (C3orf15), mRNA.	457						mitochondrion	protein binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.186)		GCGCCAGGTGGAAAAACAGCG	0.592000														40			24		0	0	1	0	0
PLEKHA3	65977	broad.mit.edu	37	2	179360349	179360349	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:179360349C>T	uc002umn.3	+	4	975	c.577C>T	c.(577-579)Ccc>Tcc	p.P193S	MIR548N_uc021vsx.1_Intron	NM_019091	NP_061964	Q9HB20	PKHA3_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3 (PLEKHA3), mRNA.	193						cytoplasm|membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			CCATCCGGATCCCTTAGTTTC	0.418000														153			116		0	0	1	0	0
USP9X	8239	broad.mit.edu	37	X	41029487	41029487	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:41029487C>T	uc004dfb.3	+	19	3510	c.2877_splice	c.e19+1	p.S959_splice	USP9X_uc004dfc.3_Splice_Site_p.S959_splice	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA.	959					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						AAAGATAAATCGGTATGTATG	0.333000														24			21		0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35478401	35478401	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:35478401C>T	uc002hnm.3	-	49	6230	c.6039G>A	c.(6037-6039)caG>caA	p.Q2013Q	ACACA_uc002hnk.3_Silent_p.Q1935Q|ACACA_uc002hnl.3_Silent_p.Q1955Q|ACACA_uc002hnn.3_Silent_p.Q2013Q|ACACA_uc002hno.3_Silent_p.Q2050Q|ACACA_uc010cuy.3_Silent_p.Q658Q|ACACA_uc010wdb.2_Silent_p.Q51Q|ACACA_uc010wdc.2_Silent_p.Q139Q	NM_198836	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	2013	Carboxyltransferase.			Q -> H (in Ref. 1; AAC50139).	acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CCTGGCCAGCCTGCTGGATTA	0.443000														97			94		0	0	1	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51958874	51958874	+	Silent	SNP	A	G	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:51958874A>G	uc002pwt.3	-	3	916	c.849T>C	c.(847-849)tgT>tgC	p.C283C	SIGLEC8_uc010yda.2_Silent_p.C174C|SIGLEC8_uc002pwu.3_Non-coding_Transcript|SIGLEC8_uc010eox.2_Silent_p.C190C	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA.	283	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	p.V282L(1)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TGTTGACAGCACAGACCAGGC	0.612000														150			4		0	0	1	0	0
CORIN	10699	broad.mit.edu	37	4	47667088	47667088	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr4:47667088T>G	uc003gxm.3	-	10	1643	c.1550A>C	c.(1549-1551)aAa>aCa	p.K517T	CORIN_uc011bzf.2_Missense_Mutation_p.K378T|CORIN_uc011bzg.2_Missense_Mutation_p.K450T|CORIN_uc011bzh.1_Missense_Mutation_p.K480T|CORIN_uc011bzi.1_Missense_Mutation_p.K480T	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	Homo sapiens corin, serine peptidase (CORIN), mRNA.	517	FZ 2.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	p.K517T(2)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						CACATCACATTTTGGTACCAA	0.443000														75			53		0	0	1	0	0
APPBP2	10513	broad.mit.edu	37	17	58525003	58525003	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:58525003G>A	uc002iys.1	-	12	1985	c.1697C>T	c.(1696-1698)tCc>tTc	p.S566F	APPBP2_uc010ddl.1_Missense_Mutation_p.S495F	NM_006380	NP_006371	Q92624	APBP2_HUMAN	Homo sapiens amyloid beta precursor protein (cytoplasmic tail) binding protein 2 (APPBP2), mRNA.	566					intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			TTCTTCAGTGGACTGGGGGCT	0.493000														236			151		0	0	1	0	0
MAGEA3	4102	broad.mit.edu	37	X	151935766	151935766	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:151935766T>G	uc022chl.1	-	0	401	c.401A>C	c.(400-402)gAa>gCa	p.E134A	MAGEA3_uc004fgp.3_Missense_Mutation_p.E134A	NM_005362	NP_005353	P43357	MAGA3_HUMAN	Homo sapiens melanoma antigen family A, 3 (MAGEA3), mRNA.	134	MAGE.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CCCCAGCATTTCTGCCTTTGT	0.522000														164			98		0	0	1	0	0
FCER1A	2205	broad.mit.edu	37	1	159277647	159277647	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:159277647C>T	uc001ftq.3	+	5	796	c.699C>T	c.(697-699)ctC>ctT	p.L233L		NM_002001	NP_001992	P12319	FCERA_HUMAN	Homo sapiens Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide (FCER1A), mRNA.	233						integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	TCACATTTCTCTTGAAGATTA	0.388000														69			35		0	0	1	0	0
FBXO24	26261	broad.mit.edu	37	7	100187673	100187673	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:100187673C>T	uc011kjz.1	+	1	295	c.227C>T	c.(226-228)tCc>tTc	p.S76F	FBXO24_uc010lha.1_Non-coding_Transcript|FBXO24_uc003uvl.1_Missense_Mutation_p.S38F|FBXO24_uc003uvm.1_Missense_Mutation_p.S38F|FBXO24_uc003uvn.1_Intron|LOC100129845_uc011kjy.2_Non-coding_Transcript|FBXO24_uc011kka.1_Missense_Mutation_p.S26F	NM_012172	NP_036304	O75426	FBX24_HUMAN	Homo sapiens F-box protein 24 (FBXO24), transcript variant 3, mRNA.	38	F-box.					ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					AATCCGATTTCCATCCAGTTG	0.567000														89			71		0	0	1	0	0
VANGL2	57216	broad.mit.edu	37	1	160389128	160389128	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:160389128C>T	uc001fwb.2	+	4	828	c.529C>T	c.(529-531)Cgc>Tgc	p.R177C	VANGL2_uc001fwc.2_Missense_Mutation_p.R177C	NM_020335	NP_065068	Q9ULK5	VANG2_HUMAN	Homo sapiens vang-like 2 (van gogh, Drosophila) (VANGL2), mRNA.	177					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane		p.R177H(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTCGCTGCCCCGCGTCTTTGT	0.627000														93			82		0	0	1	0	0
MYO5C	55930	broad.mit.edu	37	15	52564870	52564870	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr15:52564870C>T	uc010bff.3	-	5	819	c.657G>A	c.(655-657)ggG>ggA	p.G219G	MYO5C_uc010uga.2_Non-coding_Transcript|MYO5C_uc010ugb.2_Non-coding_Transcript|MYO5C_uc010ugc.2_Silent_p.G182G	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	219	Myosin head-like.					myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		CTGTGTATTTCCCAAACCGAC	0.363000														47			19		0	0	1	0	0
RACGAP1	29127	broad.mit.edu	37	12	50384470	50384470	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:50384470G>A	uc001rvt.2	-	17	2130	c.1820C>T	c.(1819-1821)cCt>cTt	p.P607L	RACGAP1_uc009zlm.1_Missense_Mutation_p.P607L|RACGAP1_uc001rvs.2_Missense_Mutation_p.P607L|RACGAP1_uc001rvu.2_Missense_Mutation_p.P607L	NM_013277	NP_037409	Q9H0H5	RGAP1_HUMAN	Homo sapiens Rac GTPase activating protein 1 (RACGAP1), transcript variant 1, mRNA.	607					blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	GTPase activator activity|alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|metal ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						TGCATACCTAGGAGTGTTCTT	0.403000														99			63		0	0	1	0	0
C12orf63	374467	broad.mit.edu	37	12	97137214	97137214	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:97137214T>A	uc021rcc.1	+	19	2607	c.2529T>A	c.(2527-2529)aaT>aaA	p.N843K				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	843										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						GCCTCATCAATGAAGTGTGTA	0.398000														55			35		0	0	1	0	0
GALNT14	79623	broad.mit.edu	37	2	31178565	31178565	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:31178565C>T	uc002rns.3	-	6	1228	c.588G>A	c.(586-588)caG>caA	p.Q196Q	GALNT14_uc002rnq.3_Silent_p.Q171Q|GALNT14_uc010ymr.2_Silent_p.Q156Q|GALNT14_uc002rnr.3_Silent_p.Q191Q|GALNT14_uc010ezo.2_Silent_p.Q158Q|GALNT14_uc010ezp.1_Silent_p.Q162Q	NM_001253826	NP_001240755	Q96FL9	GLT14_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA.	191	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					GAGTGGTGCCCTGGGCGATGT	0.602000														56			37		0	0	1	0	0
C12orf12	196477	broad.mit.edu	37	12	91347590	91347590	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:91347590C>T	uc001tbj.3	-	0	1364	c.930G>A	c.(928-930)gaG>gaA	p.E310E		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	Homo sapiens chromosome 12 open reading frame 12 (C12orf12), mRNA.	310	Glu-rich.									NS(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	27						cctcttcctcctcatcttcga	0.522000														17			23		0	0	1	0	0
C6orf165	154313	broad.mit.edu	37	6	88140778	88140778	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:88140778G>A	uc003plv.3	+	9	1310	c.1187G>A	c.(1186-1188)aGa>aAa	p.R396K	C6orf165_uc003plu.2_Missense_Mutation_p.R396K|C6orf165_uc003plw.3_Missense_Mutation_p.R208K|C6orf165_uc010kbv.2_Non-coding_Transcript	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN	Homo sapiens chromosome 6 open reading frame 165 (C6orf165), mRNA.	396										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		GCAGATTTCAGAAAACTAGAA	0.343000														8			21		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77764005	77764005	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr8:77764005C>T	uc003yau.2	+	9	5235	c.4848C>T	c.(4846-4848)ctC>ctT	p.L1616L	ZFHX4_uc003yaw.1_Silent_p.L1571L	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	1571						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GGTCTGTGCTCCACCAGACAA	0.517000										HNSCC(33;0.089)				52			70		0	0	1	0	0
PC	5091	broad.mit.edu	37	11	66638663	66638663	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:66638663G>A	uc001ojn.1	-	4	542	c.493C>T	c.(493-495)Ccc>Tcc	p.P165S	PC_uc001ojo.1_Missense_Mutation_p.P165S|PC_uc001ojp.1_Missense_Mutation_p.P165S	NM_022172	NP_071504	P11498	PYC_HUMAN	Homo sapiens pyruvate carboxylase (PC), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	165	ATP-grasp.|Biotin carboxylation.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GGGACAACGGGAACACCTGTT	0.632000														81			66		0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36069774	36069774	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr4:36069774G>A	uc003gsq.2	-	32	5208	c.4870C>T	c.(4870-4872)Cga>Tga	p.R1624*	ARAP2_uc003gso.3_Intron	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	1624					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						GGTCGATTTCGAAGTTTATCG	0.512000														81			58		0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11732266	11732266	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:11732266G>A	uc003jfa.1	-	1	301	c.156C>T	c.(154-156)ctC>ctT	p.L52L	CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_Non-coding_Transcript	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	52					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.L52L(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TGACTGAGGCGAGGATGGCAG	0.443000														117			95		0	0	1	0	0
MED14	9282	broad.mit.edu	37	X	40540121	40540121	+	Silent	SNP	A	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:40540121A>T	uc004dex.4	-	19	2639	c.2499T>A	c.(2497-2499)atT>atA	p.I833I		NM_004229	NP_004220	O60244	MED14_HUMAN	Homo sapiens mediator complex subunit 14 (MED14), mRNA.	833					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTCCCAAAGAAATGTGGAATT	0.358000														47			32		0	0	1	0	0
VPS36	51028	broad.mit.edu	37	13	53016526	53016526	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr13:53016526C>T	uc001vgs.3	-	1	185	c.151G>A	c.(151-153)Gat>Aat	p.D51N	VPS36_uc001vgq.3_5'UTR	NM_016075	NP_057159	Q86VN1	VPS36_HUMAN	Homo sapiens vacuolar protein sorting 36 homolog (S. cerevisiae) (VPS36), mRNA.	51	GLUE N-terminal.				cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)		TTTTTCTGATCTCTCCAAATC	0.333000														46			26		0	0	1	0	0
SPATA16	83893	broad.mit.edu	37	3	172835398	172835398	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:172835398C>T	uc003fin.4	-	1	308	c.124G>A	c.(124-126)Gaa>Aaa	p.E42K		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	Homo sapiens spermatogenesis associated 16 (SPATA16), mRNA.	42					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			TGTGACATTTCCAGGATGTTA	0.378000														228			135		0	0	1	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106849374	106849374	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:106849374C>T	uc009yxn.1	-	2	848	c.458G>A	c.(457-459)gGa>gAa	p.G153E	GUCY1A2_uc001pjg.1_Missense_Mutation_p.G153E|GUCY1A2_uc010rvo.1_Missense_Mutation_p.G153E	NM_000855	NP_000846	P33402	GCYA2_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 2 (GUCY1A2), transcript variant 2, mRNA.	153					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			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)		CTGAAGAATTCCTGAGACATC	0.363000														36			29		0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91763741	91763741	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:91763741C>T	uc010aty.3	-	21	4028	c.3874G>A	c.(3874-3876)Gag>Aag	p.E1292K		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	1292					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)				CGGTTGAGCTCCAGCTGCGCG	0.607000														26			22		0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228155475	228155475	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:228155475A>G	uc002vom.2	+	36	3245	c.3083A>G	c.(3082-3084)aAa>aGa	p.K1028R	BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA.	1028	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		TCTAAAGGAAAAAGGGGAACT	0.428000														25			27		0	0	1	0	0
ANO3	63982	broad.mit.edu	37	11	26660710	26660710	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:26660710T>G	uc001mqt.4	+	20	2208	c.2063T>G	c.(2062-2064)tTg>tGg	p.L688W	ANO3_uc010rdr.2_Missense_Mutation_p.L672W|ANO3_uc010rds.2_Missense_Mutation_p.L527W|ANO3_uc010rdt.2_Missense_Mutation_p.L542W	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	Homo sapiens anoctamin 3 (ANO3), mRNA.	688						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						AGTGGCTGTTTGATAGACCTC	0.408000														69			78		0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107811990	107811990	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:107811990G>A	uc022ccg.1	+	6	524	c.322_splice	c.e6-1	p.G108_splice	COL4A5_uc004enz.1_Splice_Site_p.G108_splice	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	108	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TTTTCAAAGGGAATGCCAGGC	0.423000									Alport syndrome with Diffuse Leiomyomatosis					156			91		0	0	1	0	0
SSTR4	6754	broad.mit.edu	37	20	23016354	23016354	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr20:23016354G>A	uc002wsr.2	+	0	298	c.234G>A	c.(232-234)atG>atA	p.M78I		NM_001052	NP_001043	P31391	SSR4_HUMAN	Homo sapiens somatostatin receptor 4 (SSTR4), mRNA.	78					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					ACGCCAAGATGAAGACGGCTA	0.632000														162			107		0	0	1	0	0
POLR2E	5434	broad.mit.edu	37	19	1095392	1095392	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:1095392G>A	uc002lre.4	-	1	1	c.-76_splice	c.e1-1		POLR2E_uc010xgf.2_Splice_Site	NM_002695	NP_002686	P19388	RPAB1_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide E, 25kDa (POLR2E), mRNA.						interspecies interaction between organisms|mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|skin(2)	11		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)		CGCCGAATCCGAATCAGGCCC	0.716000														14			18		0	0	1	0	0
ZIC3	7547	broad.mit.edu	37	X	136649896	136649896	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:136649896A>G	uc004fak.3	+	0	1551	c.1046A>G	c.(1045-1047)aAg>aGg	p.K349R		NM_003413	NP_003404	O60481	ZIC3_HUMAN	Homo sapiens Zic family member 3 (ZIC3), mRNA.	349	Nuclear localization signal.				cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.H348R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					AAGATCCACAAGAGGACCCAC	0.617000														114			90		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140996488	140996488	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:140996488C>T	uc004fbt.3	+	3	3622	c.3298C>T	c.(3298-3300)Cca>Tca	p.P1100S	MAGEC1_uc010nsl.2_Missense_Mutation_p.P167S|MAGEC1_uc022cfi.1_Missense_Mutation_p.P759S	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	1100	MAGE.						protein binding	p.P1100P(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TATTACCTTTCCATCCTCTTA	0.448000										HNSCC(15;0.026)				167			117		0	0	1	0	0
KRT85	3891	broad.mit.edu	37	12	52761180	52761180	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:52761180G>A	uc001sag.3	-	0	130	c.10C>T	c.(10-12)Cgc>Tgc	p.R4C		NM_002283	NP_002274	P78386	KRT85_HUMAN	Homo sapiens keratin 85 (KRT85), mRNA.	4	Head.				epidermis development	keratin filament	protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CTGTAGGAGCGGCACGACATC	0.627000														43			15		0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7635291	7635291	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:7635291G>A	uc001qsz.3	-	13	3323	c.3195C>T	c.(3193-3195)ttC>ttT	p.F1065F	CD163_uc001qta.3_Silent_p.F1065F|CD163_uc009zfw.2_Silent_p.F1098F	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	1065					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						ATAATGCGACGAAAATGGCCA	0.423000														99			71		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11666863	11666863	+	Missense_Mutation	SNP	G	A	A	rs140313224		TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:11666863G>A	uc002gne.3	+	35	7170	c.7102G>A	c.(7102-7104)Gaa>Aaa	p.E2368K	DNAH9_uc010coo.3_Missense_Mutation_p.E1662K	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2368					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E2368K(2)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTGCCCTAAGGAAATTTATGA	0.493000														73			60		0	0	1	0	0
OR4F15	390649	broad.mit.edu	37	15	102359037	102359037	+	Silent	SNP	T	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr15:102359037T>A	uc010uts.2	+	0	648	c.648T>A	c.(646-648)atT>atA	p.I216I		NM_001001674	NP_001001674	Q8NGB8	O4F15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily F, member 15 (OR4F15), mRNA.	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TGCTGGTAATTTCCTACATCT	0.478000														113			47		0	0	1	0	0
OR8B2	26595	broad.mit.edu	37	11	124253093	124253093	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:124253093G>A	uc010sai.2	-	0	147	c.147C>T	c.(145-147)ttC>ttT	p.F49F	OR8B2_uc001qab.3_Non-coding_Transcript	NM_001005468	NP_001005468	Q96RD0	OR8B2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 2 (OR8B2), mRNA.	49					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)		AATTTAGACCGAAAAGAGTGA	0.423000														203			82		0	0	1	0	0
SERPINI2	5276	broad.mit.edu	37	3	167167187	167167187	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:167167187G>A	uc003fes.1	-	6	1069	c.998C>T	c.(997-999)tCa>tTa	p.S333L	SERPINI2_uc003fer.1_Missense_Mutation_p.S323L|SERPINI2_uc003fet.1_Missense_Mutation_p.S323L	NM_006217	NP_006208	O75830	SPI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (pancpin), member 2 (SERPINI2), mRNA.	323					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						CACTTCAGATGAATCTGGTTA	0.294000														24			18		0	0	1	0	0
AIM1	202	broad.mit.edu	37	6	107003646	107003646	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:107003646G>A	uc003prh.3	+	14	5277	c.4365G>A	c.(4363-4365)tgG>tgA	p.W1455*	AIM1_uc003pri.3_Nonsense_Mutation_p.W259*	NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Homo sapiens absent in melanoma 1 (AIM1), mRNA.	1455	Beta/gamma crystallin 'Greek key' 10.						sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		ATTGTAGCTGGGTTGTATATG	0.418000														40			102		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26164502	26164502	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr22:26164502G>A	uc003abz.1	+	3	869	c.619G>A	c.(619-621)Gag>Aag	p.E207K	MYO18B_uc003aca.1_Missense_Mutation_p.E88K|MYO18B_uc010guy.1_Missense_Mutation_p.E88K|MYO18B_uc010guz.1_Missense_Mutation_p.E88K|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_5'Flank	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	207						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						GGCCAGCACCGAGATCTTGGC	0.597000														0			27		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69033155	69033155	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr8:69033155G>A	uc003xxv.1	+	30	3623	c.3596_splice	c.e30-1	p.E1199_splice		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	1199					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TGTTTATTTAGAATTTCAACA	0.398000														24			13		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13901387	13901387	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:13901387G>A	uc003jfd.2	-	13	2068	c.2026C>T	c.(2026-2028)Ctc>Ttc	p.L676F		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	676	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)					CTGTGGAAGAGGACCTCAAAC	0.498000									Kartagener syndrome					45			31		0	0	1	0	0
PTPN14	5784	broad.mit.edu	37	1	214625207	214625207	+	Silent	SNP	A	C	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:214625207A>C	uc001hkk.2	-	2	938	c.285T>G	c.(283-285)ctT>ctG	p.L95L	PTPN14_uc021piy.1_5'UTR|PTPN14_uc010pty.2_5'UTR	NM_005401	NP_005392	Q15678	PTN14_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 14 (PTPN14), mRNA.	95	FERM.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CTCCAAAGAAAAGCAAAGGCT	0.478000														46			88		0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	121028698	121028698	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:121028698C>T	uc010rzo.2	+	12	4454	c.4454C>T	c.(4453-4455)tCc>tTc	p.S1485F		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	1485					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ACCAAGACCTCCTACTGCCTG	0.667000														35			20		0	0	1	0	0
MTNR1B	4544	broad.mit.edu	37	11	92715352	92715352	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:92715352G>A	uc001pdk.1	+	1	1066	c.963G>A	c.(961-963)agG>agA	p.R321R		NM_005959	NP_005950	P49286	MTR1B_HUMAN	Homo sapiens melatonin receptor 1B (MTNR1B), mRNA.	321					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	p.R321S(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	AATACAAGAGGATCCTCTTGG	0.532000														198			137		0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66459117	66459117	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:66459117C>T	uc021xzk.1	+	28	4418	c.4110C>T	c.(4108-4110)tcC>tcT	p.S1370S	MAST4_uc003jut.2_Silent_p.S1181S|MAST4_uc003juw.3_Silent_p.S1109S|MAST4_uc003jux.3_5'Flank	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	1373						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GGCGAAAGTCCGCCGGCAACA	0.687000														105			92		0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51215327	51215327	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:51215327C>T	uc002psx.1	-	5	856	c.837G>A	c.(835-837)cgG>cgA	p.R279R		NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	279					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GGGTCAGCCCCCGACGGTCCT	0.592000														61			41		0	0	1	0	0
CCNB3	85417	broad.mit.edu	37	X	50054000	50054000	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:50054000C>T	uc004dox.4	+	5	3129	c.2831C>T	c.(2830-2832)tCc>tTc	p.S944F	CCNB3_uc004doy.3_Missense_Mutation_p.S944F|CCNB3_uc004doz.3_Intron|CCNB3_uc010njq.3_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA.	944					cell division|meiosis|regulation of G2/M transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	nucleus	protein kinase binding	p.S944Y(6)		breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					AAGGAGTTGTCCTTCAAGGAG	0.463000														103			72		0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118227657	118227657	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:118227657C>T	uc004era.4	-	9	1456	c.1456G>A	c.(1456-1458)Gaa>Aaa	p.E486K		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	486										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						AGCTTCTTTTCGTTGATTTCT	0.433000														49			30		0	0	1	0	0
IL1R2	7850	broad.mit.edu	37	2	102632434	102632434	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:102632434C>T	uc002tbm.3	+	3	663	c.434C>T	c.(433-435)tCa>tTa	p.S145L	IL1R2_uc002tbn.3_Missense_Mutation_p.S145L|IL1R2_uc002tbo.1_Missense_Mutation_p.S145L	NM_004633	NP_775465	P27930	IL1R2_HUMAN	Homo sapiens interleukin 1 receptor, type II (IL1R2), transcript variant 1, mRNA.	145	Ig-like C2-type 2.				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)	TTAACCTTGTCAACCTCTGGG	0.418000														55			44		0	0	1	0	0
C5orf58	133874	broad.mit.edu	37	5	169661144	169661144	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:169661144G>A	uc010jjn.3	+	1	88	c.5G>A	c.(4-6)aGa>aAa	p.R2K	C5orf58_uc003mal.2_Non-coding_Transcript	NM_001102609	NP_001096079	C9J3I9	CE058_HUMAN	Homo sapiens chromosome 5 open reading frame 58 (C5orf58), mRNA.	2										large_intestine(1)|lung(4)|urinary_tract(1)	6						TCTGAAATGAGAGAAATTGCA	0.403000														32			27		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140307350	140307350	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:140307350G>A	uc003lih.2	+	0	1049	c.873G>A	c.(871-873)ggG>ggA	p.G291G	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_uc003lig.1_Silent_p.G291G	NM_018898	NP_061721	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA.	315	Cadherin 3.				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)			CTAAAAGTGGGGAGGTGCAAG	0.547000														51			47		0	0	1	0	0
ENO2	2026	broad.mit.edu	37	12	7025601	7025601	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:7025601C>T	uc001qru.1	+	2	328	c.106C>T	c.(106-108)Ccc>Tcc	p.P36S	ENO2_uc009zfi.1_Missense_Mutation_p.P36S|ENO2_uc010sfq.1_Missense_Mutation_p.P36S|ENO2_uc001qrv.1_Missense_Mutation_p.P36S	NM_001975	NP_001966	P09104	ENOG_HUMAN	Homo sapiens enolase 2 (gamma, neuronal) (ENO2), mRNA.	36					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex|plasma membrane	magnesium ion binding|phosphopyruvate hydratase activity			endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GGCTGCAGTGCCCAGTGGAGC	0.552000														23			10		0	0	1	0	0
KCNN2	3781	broad.mit.edu	37	5	113698856	113698856	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:113698856C>T	uc003kqo.3	+	0	841	c.384C>T	c.(382-384)ttC>ttT	p.F128F		NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 (KCNN2), transcript variant 1, mRNA.	128						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		GCGCCCTGTTCGAAAAGCGCA	0.627000														22			27		0	0	1	0	0
SMYD5	10322	broad.mit.edu	37	2	73450573	73450573	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:73450573C>T	uc002siw.2	+	8	825	c.796C>T	c.(796-798)Cat>Tat	p.H266Y	SMYD5_uc010yre.1_Missense_Mutation_p.H150Y	NM_006062	NP_006053	Q6GMV2	SMYD5_HUMAN	Homo sapiens SMYD family member 5 (SMYD5), mRNA.	266	SET.						metal ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						CCAGTGGGTCCATGCCTGTGA	0.592000														113			83		0	0	1	0	0
LIMD1	8994	broad.mit.edu	37	3	45714242	45714242	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:45714242G>A	uc003coq.3	+	4	1751	c.1702G>A	c.(1702-1704)Gag>Aag	p.E568K		NM_014240	NP_055055	Q9UGP4	LIMD1_HUMAN	Homo sapiens LIM domains containing 1 (LIMD1), mRNA.	568	LIM zinc-binding 2.|Necessary for nuclear localization.				cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	RNA-induced silencing complex|cytoplasmic mRNA processing body|nucleus	protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		CATCTGTAATGAGTGTTTGGA	0.537000														20			69		0	0	1	0	0
OR4C6	219432	broad.mit.edu	37	11	55433107	55433107	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:55433107G>A	uc010rik.2	+	0	465	c.465G>A	c.(463-465)atG>atA	p.M155I		NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 6 (OR4C6), mRNA.	155					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						TGCACGCAATGATACAACTTC	0.468000														112			96		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31325440	31325440	+	Silent	SNP	A	G	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr18:31325440A>G	uc010dmg.1	+	11	5683	c.5628A>G	c.(5626-5628)caA>caG	p.Q1876Q	ASXL3_uc002kxq.2_Silent_p.Q1583Q	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1876					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						CATTTAAGCAAGAATGGCTAA	0.507000														222			183		0	0	1	0	0
SYT15	83849	broad.mit.edu	37	10	46969249	46969249	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr10:46969249C>T	uc001jea.3	-	2	365	c.212_splice	c.e2+1	p.R71_splice	SYT15_uc001jdz.2_Splice_Site_p.R71_splice|SYT15_uc001jeb.3_Intron|SYT15_uc010qfp.1_5'Flank	NM_031912	NP_114118	Q9BQS2	SYT15_HUMAN	Homo sapiens synaptotagmin XV (SYT15), transcript variant a, mRNA.	71						integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CCTGCCTCACCTGCTCAGTTG	0.612000														56			20		0	0	1	0	0
TG	7038	broad.mit.edu	37	8	134125787	134125787	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr8:134125787C>T	uc003ytw.3	+	43	7735	c.7694C>T	c.(7693-7695)tCt>tTt	p.S2565F	TG_uc010mdw.3_Missense_Mutation_p.S1324F|TG_uc011ljb.2_Missense_Mutation_p.S934F|TG_uc011ljc.2_Missense_Mutation_p.S698F	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	2565					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TGGTATTACTCTCTGGAGCAC	0.562000														43			56		0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166892933	166892933	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:166892933C>T	uc002udo.4	-	17	3281	c.3054G>A	c.(3052-3054)agG>agA	p.R1018R	SCN1A_uc010fpk.3_Silent_p.R990R|SCN1A_uc021vsb.1_Silent_p.R1007R	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1018						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)	CTTTGTGCATCCTATCCACAG	0.348000														28			26		0	0	1	0	0
TCL1A	8115	broad.mit.edu	37	14	96178727	96178727	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:96178727C>T	uc001yfc.4	-	1	257	c.127G>A	c.(127-129)Gat>Aat	p.D43N	TCL1A_uc001yfb.4_Missense_Mutation_p.D43N	NM_001098725	NP_068801	P56279	TCL1A_HUMAN	Homo sapiens T-cell leukemia/lymphoma 1A (TCL1A), transcript variant 2, mRNA.	43					multicellular organismal development	endoplasmic reticulum|microsome				haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		TGTAACCTATCCTTTATCTGA	0.572000			T	TRA@	T-CLL									52			34		0	0	1	0	0
SASH3	54440	broad.mit.edu	37	X	128922436	128922436	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:128922436C>T	uc004euu.3	+	2	365	c.183C>T	c.(181-183)acC>acT	p.T61T	SASH3_uc011muo.1_5'UTR	NM_018990	NP_061863	O75995	SASH3_HUMAN	Homo sapiens SAM and SH3 domain containing 3 (SASH3), mRNA.	61										breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						GTGTCCCCACCCCAGAAGATG	0.542000														56			48		0	0	1	0	0
PBX1	5087	broad.mit.edu	37	1	164761879	164761879	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:164761879G>A	uc001gct.3	+	2	877	c.414G>A	c.(412-414)ggG>ggA	p.G138G	PBX1_uc010pku.2_Silent_p.G138G|PBX1_uc001gcs.3_Silent_p.G138G|PBX1_uc010pkv.2_Silent_p.G55G|PBX1_uc010pkw.1_Silent_p.G28G	NM_002585	NP_002576	P40424	PBX1_HUMAN	Homo sapiens pre-B-cell leukemia homeobox 1 (PBX1), transcript variant 1, mRNA.	138					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						cTTCTGGAGGGGCAGGTTCAG	0.592000			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""									52			37		0	0	1	0	0
CILP	8483	broad.mit.edu	37	15	65490650	65490650	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr15:65490650G>A	uc002aon.2	-	8	2155	c.1974C>T	c.(1972-1974)ggC>ggT	p.G658G		NM_003613	NP_003604	O75339	CILP1_HUMAN	Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA.	658					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						CAGAGAACATGCCATACGTCC	0.532000														71			56		0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53045673	53045673	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr8:53045673C>T	uc003xqz.2	-	15	2544	c.2388G>A	c.(2386-2388)agG>agA	p.R796R	ST18_uc011ldq.1_Silent_p.R443R|ST18_uc011ldr.1_Silent_p.R761R|ST18_uc011lds.1_Silent_p.R701R|ST18_uc003xra.2_Silent_p.R796R	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	796						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CACCACCTTTCCTTGCACGAG	0.478000														164			65		0	0	1	0	0
ATF7IP	55729	broad.mit.edu	37	12	14649168	14649168	+	Missense_Mutation	SNP	T	C	C	rs137897287		TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:14649168T>C	uc001rbw.3	+	13	3442	c.3284T>C	c.(3283-3285)gTt>gCt	p.V1095A	ATF7IP_uc001rbx.3_Missense_Mutation_p.V1094A|ATF7IP_uc001rby.4_Missense_Mutation_p.V1095A|ATF7IP_uc001rca.3_Missense_Mutation_p.V1095A	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	Homo sapiens activating transcription factor 7 interacting protein (ATF7IP), mRNA.	1095					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						TTTGTAGGTGTTACAGTTCGA	0.373000														41			38		0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73963783	73963783	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:73963783C>T	uc004eby.3	-	2	1226	c.609G>A	c.(607-609)caG>caA	p.Q203Q		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	203					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						AGCCTAGGAGCTGGTCTGAGA	0.448000														51			41		0	0	1	0	0
LRRC18	474354	broad.mit.edu	37	10	50121763	50121763	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr10:50121763G>A	uc001jhd.3	-	0	518	c.438C>T	c.(436-438)ctC>ctT	p.L146L	WDFY4_uc001jha.4_Intron|LRRC18_uc001jhe.1_Silent_p.L146L	NM_001006939	NP_001006940	Q8N456	LRC18_HUMAN	Homo sapiens leucine rich repeat containing 18 (LRRC18), mRNA.	146						cytoplasm				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						CTACCTCGTGGAGCTCCTTCA	0.567000														7			33		0	0	1	0	0
PODXL	5420	broad.mit.edu	37	7	131195655	131195655	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:131195655G>A	uc003vqw.4	-	1	896	c.638C>T	c.(637-639)tCa>tTa	p.S213L	PODXL_uc003vqx.4_Missense_Mutation_p.S213L	NM_001018111	NP_001018121	O00592	PODXL_HUMAN	Homo sapiens podocalyxin-like (PODXL), transcript variant 1, mRNA.	213	Thr-rich.				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					TGAACTGCTTGAAATTTTCAT	0.532000														44			38		0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166795172	166795172	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr4:166795172G>A	uc003irh.2	+	0	763	c.116G>A	c.(115-117)gGg>gAg	p.G39E	TLL1_uc021xud.1_Missense_Mutation_p.G39E|TLL1_uc011cjn.2_Missense_Mutation_p.G39E|TLL1_uc011cjo.2_5'UTR	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	39					cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		ACTTTTGATGGGAACGAAGAG	0.567000														212			150		0	0	1	0	0
CST9L	128821	broad.mit.edu	37	20	23548955	23548955	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr20:23548955G>A	uc002wtk.4	-	0	432	c.133C>T	c.(133-135)Cgt>Tgt	p.R45C		NM_080610	NP_542177	Q9H4G1	CST9L_HUMAN	Homo sapiens cystatin 9-like (CST9L), mRNA.	45						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8	Colorectal(13;0.0431)|Lung NSC(19;0.235)					GGGAGGTAACGAGCCATGACA	0.522000														55			58		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9076820	9076820	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:9076820G>A	uc002mkp.3	-	2	10830	c.10626C>T	c.(10624-10626)atC>atT	p.I3542I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3543	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						CCATGGTGGTGATGGTGGTGG	0.547000														228			106		0	0	1	0	0
ACTG2	72	broad.mit.edu	37	2	74143732	74143732	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:74143732A>C	uc002sjw.3	+	7	949	c.827A>C	c.(826-828)cAt>cCt	p.H276P	ACTG2_uc010yrn.2_Missense_Mutation_p.H233P|ACTG2_uc010fey.3_Missense_Mutation_p.H276P	NM_001615	NP_001606	P63267	ACTH_HUMAN	Homo sapiens actin, gamma 2, smooth muscle, enteric (ACTG2), transcript variant 1, mRNA.	276					muscle contraction	cytoskeleton|cytosol	ATP binding	p.H276Y(1)		large_intestine(3)|lung(14)|skin(1)	18						GCTGGAATTCATGAGACAACC	0.488000														33			31		0	0	1	0	0
RGPD2	729857	broad.mit.edu	37	2	88125213	88125213	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:88125213G>A	uc010fhc.2	-	0	74	c.36C>T	c.(34-36)ctC>ctT	p.L12L	RGPD2_uc021vkn.1_Intron	NM_001078170	NP_001071638	Q68DN6	RGPD1_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 2 (RGPD2), mRNA.	0					intracellular transport		binding			breast(1)|pancreas(1)	2						GCACCGAGGCGAGGTACCGCT	0.701000														26			13		0	0	1	0	0
ITGA3	3675	broad.mit.edu	37	17	48156850	48156850	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:48156850C>T	uc010dbm.3	+	20	3099	c.2635C>T	c.(2635-2637)Cca>Tca	p.P879S	ITGA3_uc010dbl.3_Missense_Mutation_p.P879S	NM_005501	NP_005492	P26006	ITA3_HUMAN	Homo sapiens integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) (ITGA3), transcript variant b, mRNA.	879					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						ACAGCTGGATCCAGGGGGAGG	0.627000														53			41		0	0	1	0	0
SIDT1	54847	broad.mit.edu	37	3	113346507	113346507	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:113346507G>A	uc021xcn.1	+	25	3102	c.2451G>A	c.(2449-2451)ttG>ttA	p.L817L	SIDT1_uc003eak.3_Silent_p.L812L|SIDT1_uc011big.2_Silent_p.L565L|SIDT1_uc021xcq.1_Silent_p.L271L|SIDT1_uc011bii.2_Silent_p.L265L	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN	Homo sapiens SID1 transmembrane family, member 1 (SIDT1), mRNA.	812						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						TGTTAACTTTGGATGATGACC	0.463000														102			59		0	0	1	0	0
CHODL	140578	broad.mit.edu	37	21	19629125	19629125	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr21:19629125T>C	uc002ykv.3	+	1	770	c.379T>C	c.(379-381)Tcc>Ccc	p.S127P	CHODL_uc002ykr.3_Missense_Mutation_p.S86P|CHODL_uc002yks.3_Missense_Mutation_p.S86P|CHODL_uc021whr.1_Missense_Mutation_p.S86P|CHODL_uc002ykt.3_Missense_Mutation_p.S86P|CHODL_uc002yku.3_Missense_Mutation_p.S86P|CHODL_uc021whs.1_Missense_Mutation_p.S108P	NM_024944	NP_001191105	Q9H9P2	CHODL_HUMAN	Homo sapiens chondrolectin (CHODL), transcript variant 1, mRNA.	127	C-type lectin.				muscle organ development	integral to membrane|perinuclear region of cytoplasm	sugar binding			kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		TGGAAGCAATTCCCAGTACCG	0.502000														96			57		0	0	1	0	0
SLC7A2	6542	broad.mit.edu	37	8	17417917	17417917	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr8:17417917C>T	uc011kye.2	+	8	1547	c.1499C>T	c.(1498-1500)tCg>tTg	p.S500L	SLC7A2_uc011kyc.2_Missense_Mutation_p.S460L|SLC7A2_uc011kyd.2_Missense_Mutation_p.S499L	NM_001164771	NP_001158243	P52569	CTR2_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 (SLC7A2), transcript variant 3, mRNA.	460					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	AGGGTAACCTCGAAGAGTGAG	0.537000														14			62		0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108110643	108110643	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:108110643C>T	uc003dxa.1	-	37	5511	c.5454G>A	c.(5452-5454)atG>atA	p.M1818I		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	1818						myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TTCTACTCCCCATCAGGGCCA	0.463000														172			96		0	0	1	0	0
ARHGEF5	7984	broad.mit.edu	37	7	144077078	144077078	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:144077078C>T	uc003wel.3	+	14	4841	c.4723C>T	c.(4723-4725)Cgt>Tgt	p.R1575C	ARHGEF5_uc003wem.3_Missense_Mutation_p.R376C	NM_005435	NP_005426	Q12774	ARHG5_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 5 (ARHGEF5), mRNA.	1575					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|Rho guanyl-nucleotide exchange factor activity|protein binding	p.V1574F(1)		breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					CCCAGAGGTCCGTGCACAGAA	0.577000														119			77		0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41530090	41530090	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr8:41530090C>T	uc003xok.3	-	37	4962	c.4878G>A	c.(4876-4878)gtG>gtA	p.V1626V	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Intron|ANK1_uc003xoi.3_Silent_p.V1626V|ANK1_uc003xoj.3_Silent_p.V1626V|ANK1_uc003xol.3_Intron|ANK1_uc003xom.3_Silent_p.V1667V	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	1626	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CATCTGAATCCACTGTGTCGT	0.562000														43			180		0	0	1	0	0
NPHP4	261734	broad.mit.edu	37	1	6046307	6046307	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:6046307G>A	uc001alq.2	-	1	311	c.43C>T	c.(43-45)Cct>Tct	p.P15S	NPHP4_uc001als.2_Non-coding_Transcript|NPHP4_uc009vlt.2_Non-coding_Transcript|NPHP4_uc001alt.2_Intron	NM_015102	NP_055917	O75161	NPHP4_HUMAN	Homo sapiens nephronophthisis 4 (NPHP4), mRNA.	15					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		GGGTGGGGAGGGACAAGCACG	0.577000														32			20		0	0	1	0	0
ZNF780A	284323	broad.mit.edu	37	19	40581982	40581982	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:40581982C>T	uc010xvh.2	-	5	518	c.370G>A	c.(370-372)Gaa>Aaa	p.E124K	ZNF780A_uc002omw.4_Intron|ZNF780A_uc002omy.3_Missense_Mutation_p.E123K|ZNF780A_uc002omz.3_Missense_Mutation_p.E123K	NM_001142577	NP_001136049	O75290	Z780A_HUMAN	Homo sapiens zinc finger protein 780A (ZNF780A), transcript variant 1, mRNA.	123					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TGTCTATATTCTGAGTCATTT	0.348000														56			30		0	0	1	0	0
PDZD4	57595	broad.mit.edu	37	X	153070217	153070217	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:153070217C>T	uc004fja.1	-	7	1169	c.919G>A	c.(919-921)Gaa>Aaa	p.E307K	PDZD4_uc004fiy.1_Missense_Mutation_p.E226K|PDZD4_uc004fiz.1_Missense_Mutation_p.E301K|PDZD4_uc004fix.2_Missense_Mutation_p.E205K|PDZD4_uc011mze.1_Missense_Mutation_p.E192K|PDZD4_uc022chy.1_5'Flank	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN	Homo sapiens PDZ domain containing 4 (PDZD4), mRNA.	301						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTCGGGGGTTCGTCCCCCAGC	0.657000														72			69		0	0	1	0	0
ANKRD55	79722	broad.mit.edu	37	5	55407169	55407169	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:55407169C>T	uc003jqu.3	-	9	1558	c.1406G>A	c.(1405-1407)cGa>cAa	p.R469Q	ANKRD55_uc003jqt.3_Missense_Mutation_p.R181Q	NM_024669	NP_078945	Q3KP44	ANR55_HUMAN	Homo sapiens ankyrin repeat domain 55 (ANKRD55), mRNA.	468										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				TTTCTGAGATCGCTGGGCCAT	0.483000														99			88		0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43833462	43833462	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:43833462G>A	uc010skx.2	-	17	2556	c.2556C>T	c.(2554-2556)ccC>ccT	p.P852P	ADAMTS20_uc001rno.1_Silent_p.P6P|ADAMTS20_uc001rnp.1_Silent_p.P6P	NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	852	TSP type-1 2.					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)		ATGGTCCATAGGGGTCCCATG	0.433000														98			64		0	0	1	0	0
BTNL9	153579	broad.mit.edu	37	5	180486781	180486781	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:180486781G>A	uc003mmt.3	+	10	1758	c.1527G>A	c.(1525-1527)ggG>ggA	p.G509G		NM_152547	NP_689760	Q6UXG8	BTNL9_HUMAN	Homo sapiens butyrophilin-like 9 (BTNL9), mRNA.	509	B30.2/SPRY.					integral to membrane				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGGTTAGAGGGACGGGCGTCC	0.697000														14			17		0	0	1	0	0
DUS3L	56931	broad.mit.edu	37	19	5786501	5786501	+	Silent	SNP	A	G	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:5786501A>G	uc002mdc.3	-	9	1636	c.1539T>C	c.(1537-1539)ggT>ggC	p.G513G	PRR22_uc002mdb.1_5'Flank|PRR22_uc010xiv.1_5'Flank|DUS3L_uc002mdd.3_Silent_p.G271G	NM_020175	NP_064560	Q96G46	DUS3L_HUMAN	Homo sapiens dihydrouridine synthase 3-like (S. cerevisiae) (DUS3L), transcript variant 1, mRNA.	513					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						TCCCGGTGACACCAGTCTGCA	0.587000														70			30		0	0	1	0	0
PMFBP1	83449	broad.mit.edu	37	16	72184710	72184710	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr16:72184710C>T	uc002fcc.4	-	4	605	c.433G>A	c.(433-435)Gaa>Aaa	p.E145K	PMFBP1_uc002fcd.3_Missense_Mutation_p.E145K|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_5'UTR	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	145										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				TTTCCCATTTCCTCCTCATAG	0.507000														72			40		0	0	1	0	0
WASH3P	374666	broad.mit.edu	37	15	102515335	102515335	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr15:102515335C>G	uc002cdi.3	+	8	1979	c.559C>G	c.(559-561)Ctg>Gtg	p.L187V	WASH3P_uc010bpo.3_Non-coding_Transcript|WASH3P_uc002cdq.3_Non-coding_Transcript|WASH3P_uc002cdr.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 3 pseudogene (WASH3P), non-coding RNA.									p.L386V(3)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						GGAGCGAAAGCTGGAGAAGAA	0.652000														52			7		0	0	1	0	0
ZBED1	9189	broad.mit.edu	37	X	2408599	2408599	+	Silent	SNP	G	A	A	rs150600366		TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:2408599G>A	uc022brx.1	-	0	162	c.162C>T	c.(160-162)atC>atT	p.I54I	DHRSX_uc004cqf.4_Intron|ZBED1_uc004cqh.2_Silent_p.I54I|ZBED1_uc004cqg.2_Silent_p.I54I|ZBED1_uc022brw.1_Silent_p.I54I	NM_004729	NP_004720	O96006	ZBED1_HUMAN	Homo sapiens zinc finger, BED-type containing 1 (ZBED1), transcript variant 2, mRNA.	54						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)				CGGAGTAGGCGATCTGGGCCA	0.557000														124			79		0	0	1	0	0
IL22RA1	58985	broad.mit.edu	37	1	24447847	24447847	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:24447847G>A	uc001biq.2	-	6	1376	c.1173C>T	c.(1171-1173)gcC>gcT	p.A391A	IL22RA1_uc010oeg.1_Silent_p.A323A|IL22RA1_uc009vrb.2_Silent_p.A255A|IL22RA1_uc010oeh.2_Intron	NM_021258	NP_067081	Q8N6P7	I22R1_HUMAN	Homo sapiens interleukin 22 receptor, alpha 1 (IL22RA1), mRNA.	391						integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		TGGCTTGAGGGGCATAGGAGG	0.587000														108			70		0	0	1	0	0
ZNF385B	151126	broad.mit.edu	37	2	180634386	180634386	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:180634386A>T	uc002unn.4	-	2	701	c.97T>A	c.(97-99)Ttc>Atc	p.F33I		NM_152520	NP_001106869	Q569K4	Z385B_HUMAN	Homo sapiens zinc finger protein 385B (ZNF385B), transcript variant 1, mRNA.	33						nucleus	nucleic acid binding|zinc ion binding			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)			CAGAAGGAGAAAAGAATTTTC	0.473000														65			65		0	0	1	0	0
CRHR1	1394	broad.mit.edu	37	17	43911206	43911206	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:43911206A>T	uc010dap.3	+	11	1408	c.1143A>T	c.(1141-1143)gaA>gaT	p.E381D	CRHR1_uc010wjx.2_Missense_Mutation_p.E177D|CRHR1_uc002ijp.3_Intron|CRHR1_uc002ijm.3_Missense_Mutation_p.E352D|CRHR1_uc002ijn.3_Missense_Mutation_p.E312D|CRHR1_uc010dar.3_Missense_Mutation_p.E352D|CRHR1_uc010dao.3_Missense_Mutation_p.E251D|CRHR1_uc010daq.3_Missense_Mutation_p.E177D|CRHR1_uc021tyu.1_Missense_Mutation_p.E177D	NM_001145146	NP_001138618	P34998	CRFR1_HUMAN	Homo sapiens corticotropin releasing hormone receptor 1 (CRHR1), transcript variant 1, mRNA.	381					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		CCTTCCTGGAATCCTTCCAGG	0.597000														118			70		0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101736074	101736074	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr13:101736074G>A	uc001vox.1	-	30	3760	c.3571C>T	c.(3571-3573)Ccg>Tcg	p.P1191S		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	1191						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)					GGGCGAGGCGGAAGATGAAGA	0.473000														49			31		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140793859	140793859	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:140793859T>A	uc003lkl.2	+	0	1117	c.1117T>A	c.(1117-1119)Tta>Ata	p.L373I	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.L373I	NM_018913	NP_061736	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 10 (PCDHGA10), transcript variant 1, mRNA.	372	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)			CGTAGCCCTTTTAAATGTGCA	0.398000														34			30		0	0	1	0	0
NDOR1	27158	broad.mit.edu	37	9	140108750	140108750	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr9:140108750C>T	uc004clx.3	+	5	718	c.607C>T	c.(607-609)Ccg>Tcg	p.P203S	NDOR1_uc004clw.3_Missense_Mutation_p.P203S|NDOR1_uc011mes.2_Missense_Mutation_p.P203S|NDOR1_uc004cly.3_Missense_Mutation_p.P169S	NM_001144026	NP_001137498	Q9UHB4	NDOR1_HUMAN	Homo sapiens NADPH dependent diflavin oxidoreductase 1 (NDOR1), transcript variant 1, mRNA.	203					cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	FMN binding|NADP binding|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|protein binding			breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		TCAGGAGCCCCCGTCAGAGTC	0.622000														11			50		0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197098447	197098447	+	Splice_Site	SNP	C	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:197098447C>A	uc001gtu.3	-	9	2887	c.2630_splice	c.e9-1	p.G877_splice	ASPM_uc001gtv.3_Splice_Site_p.G877_splice|ASPM_uc001gtw.4_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	877					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTCTTCATGACCTTAAATAAA	0.279000														45			62		5.02462e-34	5.07633e-34	1	1	0
ZNF518B	85460	broad.mit.edu	37	4	10447782	10447782	+	Silent	SNP	A	G	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr4:10447782A>G	uc003gmn.3	-	2	658	c.171T>C	c.(169-171)atT>atC	p.I57I	ZNF518B_uc021xme.1_Silent_p.I57I	NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN	Homo sapiens zinc finger protein 518B (ZNF518B), mRNA.	57					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						CACATGTAGCAATGGTCATCA	0.483000														173			123		0	0	1	0	0
HKDC1	80201	broad.mit.edu	37	10	71010324	71010324	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr10:71010324C>T	uc001jpf.4	+	11	1885	c.1752C>T	c.(1750-1752)ttC>ttT	p.F584F	HKDC1_uc010qje.2_Silent_p.F447F	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	Homo sapiens hexokinase domain containing 1 (HKDC1), mRNA.	584					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						TCGCCGACTTCCTGGACTACA	0.562000														35			126		0	0	1	0	0
SPDYE7P	441251	broad.mit.edu	37	7	72336983	72336983	+	RNA	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:72336983G>A	uc010lal.1	-	0		c.2673C>T								Homo sapiens speedy homolog E7 (Xenopus laevis), pseudogene (SPDYE7P), non-coding RNA.																		AGGGGAGGCCGGCCCGGCTGA	0.522000														255			194		0	0	1	0	0
AVPR1B	553	broad.mit.edu	37	1	206225374	206225374	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:206225374G>A	uc001hds.2	+	0	1092	c.934G>A	c.(934-936)Gat>Aat	p.D312N		NM_000707	NP_000698	P47901	V1BR_HUMAN	Homo sapiens arginine vasopressin receptor 1B (AVPR1B), mRNA.	312					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	GAATGCCCCTGATGAAGGCAA	0.562000														133			72		0	0	1	0	0
OR6C4	341418	broad.mit.edu	37	12	55945503	55945503	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:55945503G>A	uc010spp.2	+	0	493	c.493G>A	c.(493-495)Gat>Aat	p.D165N		NM_001005494	NP_001005494	Q8NGE1	OR6C4_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 4 (OR6C4), mRNA.	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						GACCCAGGTAGATTTCTGTGT	0.473000														149			106		0	0	1	0	0
CLIC6	54102	broad.mit.edu	37	21	36081023	36081023	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr21:36081023C>T	uc010gmt.1	+	4	1690	c.1690C>T	c.(1690-1692)Ccc>Tcc	p.P564S	CLIC6_uc002yuf.1_Missense_Mutation_p.P546S	NM_053277	NP_444507	Q96NY7	CLIC6_HUMAN	Homo sapiens chloride intracellular channel 6 (CLIC6), nuclear gene encoding mitochondrial protein, mRNA.	564	GST C-terminal.					chloride channel complex|cytoplasm|plasma membrane	voltage-gated chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						GACCCAACATCCCGAATCTAA	0.403000														40			30		0	0	1	0	0
LRG1	116844	broad.mit.edu	37	19	4538735	4538735	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:4538735G>A	uc002mau.3	-	1	272	c.261C>T	c.(259-261)ctC>ctT	p.L87L	PLIN5_uc002mat.1_Intron	NM_052972	NP_443204	P02750	A2GL_HUMAN	Homo sapiens leucine-rich alpha-2-glycoprotein 1 (LRG1), mRNA.	87						extracellular region|membrane				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCCCTGGAGGAGGTTGGCTG	0.627000														38			40		0	0	1	0	0
TNFRSF1B	7133	broad.mit.edu	37	1	12266803	12266803	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:12266803C>T	uc001att.3	+	9	1201	c.1112C>T	c.(1111-1113)tCc>tTc	p.S371F	TNFRSF1B_uc001atu.3_Missense_Mutation_p.S176F|TNFRSF1B_uc009vnk.3_Non-coding_Transcript	NM_001066	NP_001057	P20333	TNR1B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 1B (TNFRSF1B), mRNA.	371					apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity			central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)|Infliximab(DB00065)	GCAGATTCTTCCCCTGGTGGC	0.602000														105			76		0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16255687	16255687	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:16255687G>A	uc001axk.1	+	10	3156	c.2952G>A	c.(2950-2952)agG>agA	p.R984R	SPEN_uc010obp.1_Silent_p.R943R	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	984					Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TGGAAGCCAGGAAAAGGCGCT	0.498000														36			28		0	0	1	0	0
GPR39	2863	broad.mit.edu	37	2	133175311	133175311	+	Silent	SNP	C	T	T	rs144877200		TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:133175311C>T	uc002ttl.3	+	0	1165	c.696C>T	c.(694-696)ctC>ctT	p.L232L		NM_001508	NP_001499	O43194	GPR39_HUMAN	Homo sapiens G protein-coupled receptor 39 (GPR39), mRNA.	232						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGGTCTACCTCGTGGTCCTGC	0.617000														60			56		0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119750786	119750786	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:119750786T>G	uc002tln.1	+	15	1471	c.1339T>G	c.(1339-1341)Tgc>Ggc	p.C447G	MARCO_uc010yyf.1_Missense_Mutation_p.C369G	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	447	SRCR.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GGGGACAATTTGCGATGACGA	0.517000														168			103		0	0	1	0	0
OR4K2	390431	broad.mit.edu	37	14	20344831	20344831	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:20344831C>T	uc001vwh.1	+	0	405	c.405C>T	c.(403-405)gtC>gtT	p.V135V		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATGCTTCTGTCATTAGTCCCC	0.453000														212			102		0	0	1	0	0
TMPRSS3	64699	broad.mit.edu	37	21	43796763	43796763	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr21:43796763C>T	uc002zbb.2	-	10	1282	c.1081G>A	c.(1081-1083)Gcc>Acc	p.A361T	TMPRSS3_uc002zay.2_Missense_Mutation_p.A118T|TMPRSS3_uc002zaz.2_Missense_Mutation_p.A234T|TMPRSS3_uc002zba.2_Missense_Mutation_p.A234T|TMPRSS3_uc002zbc.2_Missense_Mutation_p.A360T	NM_024022	NP_076927	P57727	TMPS3_HUMAN	Homo sapiens transmembrane protease, serine 3 (TMPRSS3), transcript variant A, mRNA.	361	Peptidase S1.				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						AAAGGGACGGCCGCGTGGTTC	0.597000														231			140		0	0	1	0	0
SMARCC2	6601	broad.mit.edu	37	12	56558150	56558150	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:56558150G>A	uc001skb.3	-	26	3611	c.3505C>T	c.(3505-3507)Caa>Taa	p.Q1169*	SMARCC2_uc001skd.3_Nonsense_Mutation_p.Q1107*|SMARCC2_uc001ska.3_Intron|SMARCC2_uc001skc.3_Nonsense_Mutation_p.Q1106*|SMARCC2_uc010sqf.2_Intron	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 (SMARCC2), transcript variant 1, mRNA.	1169	Pro-rich.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleoplasm	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GCAGGGCTTTGGGCTGCGGCG	0.652000														98			82		0	0	1	0	0
ANKRD35	148741	broad.mit.edu	37	1	145560240	145560240	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:145560240G>A	uc001eob.1	+	7	834	c.726G>A	c.(724-726)ctG>ctA	p.L242L	ANKRD35_uc010oyx.1_Silent_p.L85L	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	Homo sapiens ankyrin repeat domain 35 (ANKRD35), mRNA.	242										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGCAGGCCCTGAGCCGGCGGC	0.557000														67			61		0	0	1	0	0
PROX1	5629	broad.mit.edu	37	1	214171380	214171380	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:214171380C>T	uc001hkh.3	+	1	1774	c.1502C>T	c.(1501-1503)tCc>tTc	p.S501F	PROX1_uc001hkg.1_Missense_Mutation_p.S501F	NM_002763	NP_002754	Q92786	PROX1_HUMAN	Homo sapiens prospero homeobox 1 (PROX1), mRNA.	501					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of S phase of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	p.S501S(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GGTGCTCCCTCCGGCTCCTTC	0.562000														70			121		0	0	1	0	0
CRP	1401	broad.mit.edu	37	1	159683778	159683778	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:159683778G>A	uc001ftw.3	-	1	316	c.212C>T	c.(211-213)tCg>tTg	p.S71L	CRP_uc001ftx.1_Intron|CRP_uc001fty.1_5'Flank	NM_000567	NP_000558	P02741	CRP_HUMAN	Homo sapiens C-reactive protein, pentraxin-related (CRP), mRNA.	71	Pentaxin.			YSIFSYATKRQDNEIL -> TVFSRMPPRDKTMRFF (in Ref. 4; CAA39671).	acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		Gram-positive bacterial cell surface binding|choline binding|low-density lipoprotein particle binding|metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	GGTGGCATACGAGAAAATACT	0.448000														70			56		0	0	1	0	0
SLC25A33	84275	broad.mit.edu	37	1	9633421	9633421	+	Silent	SNP	T	C	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:9633421T>C	uc001apw.3	+	4	656	c.433T>C	c.(433-435)Tta>Cta	p.L145L		NM_032315	NP_115691	Q9BSK2	S2533_HUMAN	Homo sapiens solute carrier family 25, member 33 (SLC25A33), nuclear gene encoding mitochondrial protein, mRNA.	145					transport	integral to membrane|mitochondrial inner membrane				endometrium(2)|kidney(1)|lung(4)|prostate(1)|skin(1)	9	all_lung(157;0.246)	all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419)		CACAAATTCCTTAATGAATCC	0.284000														24			26		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82585807	82585807	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:82585807G>A	uc003uhx.2	-	4	4751	c.4462C>T	c.(4462-4464)Cct>Tct	p.P1488S	PCLO_uc003uhv.2_Missense_Mutation_p.P1488S	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1419					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						TTGCTGGAAGGAATATCTTGT	0.348000														27			17		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168107590	168107590	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:168107590C>T	uc002udx.3	+	8	9777	c.9688C>T	c.(9688-9690)Cgt>Tgt	p.R3230C	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.R3055C|XIRP2_uc010fpq.3_Missense_Mutation_p.R3008C|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	3055					actin cytoskeleton organization	cell junction	actin binding	p.R3230P(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GATAGAAACTCGTGGTAGGGA	0.448000														46			47		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179498297	179498297	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:179498297G>A	uc021vsy.1	-	180	35310	c.35085C>T	c.(35083-35085)ttC>ttT	p.F11695F	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.F5390F|TTN_uc021vta.1_Silent_p.F5323F|TTN_uc021vtb.1_Silent_p.F5198F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12622	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACCATCTTTGAACCATTTCA	0.408000														42			25		0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196642283	196642283	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:196642283G>A	uc001gtj.4	+	1	474	c.234G>A	c.(232-234)agG>agA	p.R78R	CFH_uc001gti.4_Silent_p.R78R|CFH_uc009wyw.3_Silent_p.R78R|CFH_uc009wyx.3_Silent_p.R78R	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	78	Sushi 1.		R -> G (in AHUS1).		complement activation, alternative pathway	extracellular space		p.L77S(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ATCCATTAAGGAAATGTCAGA	0.333000														79			112		0	0	1	0	0
CEP97	79598	broad.mit.edu	37	3	101476917	101476917	+	Silent	SNP	A	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:101476917A>T	uc003dvk.1	+	8	1494	c.1467A>T	c.(1465-1467)atA>atT	p.I489I	CEP97_uc010hpm.1_Silent_p.I455I|CEP97_uc011bhf.1_Silent_p.I430I|CEP97_uc003dvl.1_Silent_p.I185I|CEP97_uc003dvm.1_Silent_p.I327I	NM_024548	NP_078824	Q8IW35	CEP97_HUMAN	Homo sapiens centrosomal protein 97kDa (CEP97), mRNA.	489	CEP110 binding.					centrosome|nucleus	protein binding			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						AGCCAACAATAATCAGTGCTA	0.368000														99			58		0	0	1	0	0
C1QTNF2	114898	broad.mit.edu	37	5	159781843	159781843	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:159781843C>T	uc003lyd.3	-	1	315	c.311G>A	c.(310-312)cGa>cAa	p.R104Q		NM_031908	NP_114114	Q9BXJ5	C1QT2_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 2 (C1QTNF2), mRNA.	59	Collagen-like.					collagen				breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	13	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAAGCCCATTCGTCCCATCAT	0.662000														20			25		0	0	1	0	0
NOP58	51602	broad.mit.edu	37	2	203142701	203142701	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:203142701C>T	uc002uzb.3	+	2	301	c.151C>T	c.(151-153)Cag>Tag	p.Q51*	NOP58_uc010zhv.1_Nonsense_Mutation_p.Q51*|SNORD70_uc021vvh.1_5'Flank	NM_015934	NP_057018	Q9Y2X3	NOP58_HUMAN	Homo sapiens NOP58 ribonucleoprotein homolog (yeast) (NOP58), mRNA.	51					cell growth|rRNA processing|snRNP protein import into nucleus	Cajal body|box C/D snoRNP complex|cytoplasm|pre-snoRNP complex	protein binding|snoRNA binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						TGAGAAATTTCAGGATACAGC	0.308000														100			54		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140348541	140348541	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:140348541G>A	uc003lii.3	+	0	2795	c.2190G>A	c.(2188-2190)aaG>aaA	p.K730K	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.K730K	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	730					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)			GCATCATCAAGTGCTACCGCT	0.423000														62			51		0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	30072639	30072639	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr13:30072639G>A	uc001usl.4	+	11	3851	c.3793G>A	c.(3793-3795)Gag>Aag	p.E1265K	MTUS2_uc001usm.4_Missense_Mutation_p.E234K|MTUS2_uc010aau.3_Missense_Mutation_p.E144K|MTUS2_uc010tdq.2_Missense_Mutation_p.E17K	NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	1255						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						GCAAATACACGAGCAAGAAAA	0.443000														53			33		0	0	1	0	0
ARAF	369	broad.mit.edu	37	X	47426121	47426121	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:47426121C>T	uc011mlp.2	+	6	835	c.641C>T	c.(640-642)tCc>tTc	p.S214F	ARAF_uc011mln.2_Intron|ARAF_uc011mlo.2_Missense_Mutation_p.S80F|ARAF_uc004dic.1_5'UTR	NM_001654	NP_001645	P10398	ARAF_HUMAN	Homo sapiens v-raf murine sarcoma 3611 viral oncogene homolog (ARAF), transcript variant 1, mRNA.	214					intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity	p.S214F(2)		biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	CGCTCCACGTCCACTCCCAAC	0.662000														48			40		0	0	1	0	0
HMOX2	3163	broad.mit.edu	37	16	4557778	4557778	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr16:4557778A>G	uc002cwr.4	+	4	576	c.269A>G	c.(268-270)gAc>gGc	p.D90G	HMOX2_uc010bts.3_Missense_Mutation_p.D90G|HMOX2_uc002cwq.4_Missense_Mutation_p.D90G|HMOX2_uc010btt.3_Missense_Mutation_p.D90G|HMOX2_uc002cwt.3_Missense_Mutation_p.D90G	NM_001127204	NP_002125	P30519	HMOX2_HUMAN	Homo sapiens heme oxygenase (decycling) 2 (HMOX2), transcript variant 1, mRNA.	90					cellular iron ion homeostasis|heme catabolic process|heme oxidation|response to hypoxia|transmembrane transport	endoplasmic reticulum membrane|microsome|plasma membrane	electron carrier activity|heme oxygenase (decyclizing) activity|metal ion binding|protein binding			endometrium(1)|large_intestine(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8					NADH(DB00157)	CGCAACAAGGACCATCCAGCC	0.562000														74			40		0	0	1	0	0
ARHGAP28	79822	broad.mit.edu	37	18	6851122	6851122	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr18:6851122C>T	uc002knc.3	+	3	3688	c.477C>T	c.(475-477)tcC>tcT	p.S159S	ARHGAP28_uc002kne.3_Silent_p.S52S|ARHGAP28_uc010wzi.2_Missense_Mutation_p.P42L|ARHGAP28_uc002knf.3_Silent_p.S43S	NM_001010000	NP_001010000	B4DXL2	B4DXL2_HUMAN	Homo sapiens Rho GTPase activating protein 28 (ARHGAP28), mRNA.	0					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				CAAGTGGTTCCATGGTAAGTT	0.428000														51			41		0	0	1	0	0
ZNF646	9726	broad.mit.edu	37	16	31091618	31091618	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr16:31091618C>T	uc002eap.3	+	1	4262	c.3973C>T	c.(3973-3975)Cag>Tag	p.Q1325*	ZNF646_uc021tgu.1_Nonsense_Mutation_p.Q1325*	NM_014699	NP_055514	O15015	ZN646_HUMAN	Homo sapiens zinc finger protein 646 (ZNF646), mRNA.	1325					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CGAGACGGGCCAGTACAGCTG	0.692000														22			28		0	0	1	0	0
KIF26B	55083	broad.mit.edu	37	1	245849093	245849093	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:245849093C>T	uc001ibf.1	+	11	3248	c.2808C>T	c.(2806-2808)atC>atT	p.I936I	KIF26B_uc001ibg.1_Silent_p.I554I|KIF26B_uc001ibh.1_Silent_p.I178I	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	Homo sapiens kinesin family member 26B (KIF26B), mRNA.	936					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			TGGACTGCATCGACGGCAGCG	0.637000														43			36		0	0	1	0	0
AFAP1	60312	broad.mit.edu	37	4	7774673	7774673	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr4:7774673C>T	uc011bwk.1	-	15	2400	c.2127G>A	c.(2125-2127)aaG>aaA	p.K709K	AFAP1_uc003gkg.1_Silent_p.K625K|AFAP1-AS1_uc003gkd.4_Non-coding_Transcript	NM_001134647	NP_001128119	Q8N556	AFAP1_HUMAN	Homo sapiens actin filament associated protein 1 (AFAP1), transcript variant a, mRNA.	646						actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						GCTCCGCCTCCTTCTGCCGGC	0.657000														43			23		0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834437	125834438	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:125834437_125834438CC>AT	uc001uhe.1	+	1	500_501	c.492_493CC>AT	c.(490-495)ttccct>ttATct	p.164_165FP>LS	TMEM132B_uc021rgl.1_Missense_Mutation_p.54_55FP>LS	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	164						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TGTTTGCTTTCCCTGAGGCCAG	0.584000														96			42		0	0	1	0	0
CPA6	57094	broad.mit.edu	37	8	68419072	68419072	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr8:68419072G>A	uc003xxq.4	-	5	842	c.586C>T	c.(586-588)Cat>Tat	p.H196Y	CPA6_uc003xxr.4_Missense_Mutation_p.H48Y|CPA6_uc003xxs.2_Missense_Mutation_p.H196Y	NM_020361	NP_065094	Q8N4T0	CBPA6_HUMAN	Homo sapiens carboxypeptidase A6 (CPA6), mRNA.	196	Substrate binding (By similarity).				proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			TCTCTTGCATGAATACCACAG	0.423000														72			126		0	0	1	0	0
ZNF410	57862	broad.mit.edu	37	14	74364873	74364873	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:74364873C>T	uc010arz.2	+	5	989	c.539C>T	c.(538-540)cCa>cTa	p.P180L	ZNF410_uc001xoy.2_Non-coding_Transcript|ZNF410_uc010ary.2_Non-coding_Transcript|ZNF410_uc010tuf.2_Non-coding_Transcript|ZNF410_uc010tui.2_Non-coding_Transcript|ZNF410_uc001xpa.2_5'UTR|ZNF410_uc001xoz.2_Missense_Mutation_p.P163L|ZNF410_uc001xpb.2_Missense_Mutation_p.P163L|ZNF410_uc010tug.2_5'UTR|ZNF410_uc010tuh.2_Missense_Mutation_p.P90L|ZNF410_uc010tuj.2_5'UTR	NM_001242924	NP_001229853	Q86VK4	ZN410_HUMAN	Homo sapiens zinc finger protein 410 (ZNF410), transcript variant 1, mRNA.	163					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.00369)		AGTAGCATTCCATGGTTCCTC	0.507000														119			80		0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138451472	138451472	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr4:138451472G>A	uc003ihe.4	-	0	2158	c.1771C>T	c.(1771-1773)Ccc>Tcc	p.P591S	PCDH18_uc003ihf.4_Missense_Mutation_p.P584S|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Missense_Mutation_p.P371S|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	591	Cadherin 6.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GCCCCTTTGGGAATGGTGATT	0.458000														247			148		0	0	1	0	0
CDH26	60437	broad.mit.edu	37	20	58570951	58570951	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr20:58570951T>A	uc002ybe.3	+	11	2041	c.1730T>A	c.(1729-1731)tTc>tAc	p.F577Y	CDH26_uc002ybf.1_Missense_Mutation_p.F157Y|CDH26_uc010zzy.2_Non-coding_Transcript|CDH26_uc002ybh.3_5'Flank|CDH26_uc002ybi.3_5'Flank	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	Homo sapiens cadherin 26 (CDH26), transcript variant a, mRNA.	577					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GTGCCACTCTTCATTGGAGAC	0.478000														53			39		0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56539800	56539800	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:56539800G>A	uc002qmj.3	+	6	2201	c.2201G>A	c.(2200-2202)cGg>cAg	p.R734Q	NLRP5_uc002qmi.3_Missense_Mutation_p.R715Q	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	734						mitochondrion|nucleolus	ATP binding	p.R734P(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CCGTATTTGCGGAAAATTCGG	0.507000														217			141		0	0	1	0	0
ANKRD34B	340120	broad.mit.edu	37	5	79855816	79855816	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr5:79855816G>A	uc010jam.3	-	3	373	c.23C>T	c.(22-24)tCa>tTa	p.S8L	ANKRD34B_uc003kgw.3_Missense_Mutation_p.S8L|ANKRD34B_uc010jan.3_Missense_Mutation_p.S8L|ANKRD34B_uc021yax.1_Missense_Mutation_p.S8L	NM_001004441	NP_001004441	A5PLL1	AN34B_HUMAN	Homo sapiens ankyrin repeat domain 34B (ANKRD34B), mRNA.	8						cytoplasm|nucleus				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		TCCTTCACTTGAAATTTCCAT	0.443000														46			18		0	0	1	0	0
STRN	6801	broad.mit.edu	37	2	37111138	37111138	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:37111138C>A	uc002rpn.3	-	8	1132	c.1123G>T	c.(1123-1125)Ggt>Tgt	p.G375C	STRN_uc010ezx.3_Missense_Mutation_p.G338C	NM_003162	NP_003153	O43815	STRN_HUMAN	Homo sapiens striatin, calmodulin binding protein (STRN), mRNA.	375					Wnt receptor signaling pathway|dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				GAAGGTGAACCCACAGATGGC	0.443000														32			35		7.53189e-24	7.60229e-24	1	1	0
DOCK8	81704	broad.mit.edu	37	9	339064	339064	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr9:339064C>T	uc003zgf.2	+	12	1593	c.1481C>T	c.(1480-1482)tCa>tTa	p.S494L	DOCK8_uc011lls.1_Missense_Mutation_p.S494L|DOCK8_uc022bcu.1_Missense_Mutation_p.S426L|DOCK8_uc010mgv.3_Missense_Mutation_p.S426L|DOCK8_uc010mgu.3_5'UTR|DOCK8_uc003zgg.3_Missense_Mutation_p.S426L|DOCK8_uc022bct.1_Non-coding_Transcript	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	494	DHR-1.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TACAAAAGATCATCATCCTTA	0.398000														13			28		0	0	1	0	0
TNNT2	7139	broad.mit.edu	37	1	201331115	201331115	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:201331115C>T	uc001gwf.3	-	12	705	c.636G>A	c.(634-636)cgG>cgA	p.R212R	TNNT2_uc009wzn.3_5'Flank|TNNT2_uc009wzo.3_5'Flank|TNNT2_uc009wzp.3_Non-coding_Transcript|TNNT2_uc021phc.1_Silent_p.R205R|TNNT2_uc001gwg.3_Silent_p.R202R|TNNT2_uc001gwh.3_Silent_p.R193R|TNNT2_uc001gwi.3_Silent_p.R172R|TNNT2_uc009wzr.3_Silent_p.R143R	NM_000364	NP_000355	P45379	TNNT2_HUMAN	Homo sapiens troponin T type 2 (cardiac) (TNNT2), transcript variant 1, mRNA.	215					ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						TCTTCTTTTCCCGCTCAGTCT	0.577000											OREG0014076	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		194			181		0	0	1	0	0
MAPKAPK2	9261	broad.mit.edu	37	1	206904533	206904533	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:206904533C>T	uc001hem.2	+	6	1028	c.818C>T	c.(817-819)cCg>cTg	p.P273L	MAPKAPK2_uc001hel.2_Missense_Mutation_p.P273L	NM_032960	NP_116584	P49137	MAPK2_HUMAN	Homo sapiens mitogen-activated protein kinase-activated protein kinase 2 (MAPKAPK2), transcript variant 2, mRNA.	273	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|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|nerve growth factor receptor signaling pathway|prostanoid metabolic process|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			GCCATCTCTCCGGGCATGAAG	0.527000														225			96		0	0	1	0	0
JHDM1D	80853	broad.mit.edu	37	7	139820289	139820289	+	Silent	SNP	A	C	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:139820289A>C	uc003vvm.3	-	7	1096	c.1092T>G	c.(1090-1092)gcT>gcG	p.A364A	JHDM1D_uc010lng.3_5'Flank	NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	Homo sapiens jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae) (JHDM1D), mRNA.	364	JmjC.				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					TCCCCCCAAAAGCCATACAGT	0.378000														112			63		0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21526238	21526238	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr18:21526238G>A	uc002kuq.3	+	69	9427	c.9341G>A	c.(9340-9342)gGg>gAg	p.G3114E	LAMA3_uc002kur.3_Missense_Mutation_p.G3058E|LAMA3_uc002kus.4_Missense_Mutation_p.G1505E|LAMA3_uc002kut.4_Missense_Mutation_p.G1449E	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	3114	Laminin G-like 4.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			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)	CCTCCATCAGGGAAACCAAAG	0.448000														60			39		0	0	1	0	0
ZNF438	220929	broad.mit.edu	37	10	31139282	31139282	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr10:31139282G>A	uc010qdz.2	-	6	487	c.52C>T	c.(52-54)Cct>Tct	p.P18S	ZNF438_uc001ivn.3_5'UTR|ZNF438_uc010qdy.2_Missense_Mutation_p.P8S|ZNF438_uc001ivo.4_5'UTR|ZNF438_uc009xlg.3_Missense_Mutation_p.P18S|ZNF438_uc001ivp.4_Missense_Mutation_p.P8S|ZNF438_uc010qea.2_Missense_Mutation_p.P18S|ZNF438_uc010qeb.2_Missense_Mutation_p.P18S|ZNF438_uc010qec.1_5'UTR	NM_182755	NP_001137241	Q7Z4V0	ZN438_HUMAN	Homo sapiens zinc finger protein 438 (ZNF438), transcript variant 2, mRNA.	18					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				GTTCCAGAAGGGATGTTTGAT	0.368000														42			44		0	0	1	0	0
PRB2	653247	broad.mit.edu	37	12	11546107	11546107	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:11546107C>T	uc010shk.1	-	2	940	c.905G>A	c.(904-906)gGa>gAa	p.G302E		NM_006248	NP_006239			Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA.											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)			TTGTGGCTTTCCTGGAGGAGA	0.597000														350			240		0	0	1	0	0
OR7A5	26659	broad.mit.edu	37	19	14938507	14938507	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:14938507G>A	uc002mzw.3	-	0	770	c.547C>T	c.(547-549)Cag>Tag	p.Q183*	OR7A5_uc010xoa.2_Nonsense_Mutation_p.Q183*	NM_017506	NP_059976	Q15622	OR7A5_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily A, member 5 (OR7A5), mRNA.	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						TGGATGACCTGATTAAGTTCA	0.443000														68			53		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2876092	2876092	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr8:2876092A>T	uc022aqr.1	-	51	8326	c.7936T>A	c.(7936-7938)Ttt>Att	p.F2646I	CSMD1_uc011kwj.2_Missense_Mutation_p.F1976I|CSMD1_uc010lrg.3_Intron	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2647	Sushi 17.					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)		TTGCACGTAAATATAGCTGTG	0.478000														39			150		0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55872723	55872723	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:55872723T>A	uc010riy.2	+	0	205	c.205T>A	c.(205-207)Ttt>Att	p.F69I		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA.	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S68P(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TCACCTGTCATTTATTGACCT	0.428000										HNSCC(53;0.14)				281			110		0	0	1	0	0
PSD	5662	broad.mit.edu	37	10	104176327	104176327	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr10:104176327C>T	uc001kvg.1	-	1	996	c.469G>A	c.(469-471)Gac>Aac	p.D157N	PSD_uc001kvh.1_5'UTR|PSD_uc009xxd.1_Missense_Mutation_p.D157N|PSD_uc001kvi.1_Missense_Mutation_p.D157N|FBXL15_uc001kvj.1_5'Flank	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing (PSD), mRNA.	157	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GGGAGTGGGTCTGATGTGGAT	0.657000														7			24		0	0	1	0	0
MCM9	254394	broad.mit.edu	37	6	119245226	119245226	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr6:119245226A>G	uc021zeh.1	-	1	386	c.371T>C	c.(370-372)tTa>tCa	p.L124S	MCM9_uc003pyh.3_Missense_Mutation_p.L124S	NM_017696	NP_060166	Q9NXL9	MCM9_HUMAN	Homo sapiens minichromosome maintenance complex component 9 (MCM9), transcript variant 1, mRNA.	124					DNA replication		ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		AGTGACAGATAAAAAGTGTCC	0.438000														63			235		0	0	1	0	0
OR2T5	401993	broad.mit.edu	37	1	248652000	248652000	+	Silent	SNP	G	A	A	rs143666885		TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:248652000G>A	uc001iem.1	+	0	111	c.111G>A	c.(109-111)gtG>gtA	p.V37V		NM_001004697	NP_001004697	Q6IEZ7	OR2T5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 5 (OR2T5), mRNA.	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(2)|pancreas(1)|skin(2)	9	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)			TCATCTTTGTGGTTTTCCTGA	0.478000														211			84		0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52321802	52321802	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr8:52321802G>A	uc003xqu.4	-	16	2483	c.2382C>T	c.(2380-2382)acC>acT	p.T794T	PXDNL_uc003xqt.4_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	794					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TGTGGTCGGGGGTGACGGCCG	0.731000														12			6		0	0	1	0	0
APOOL	139322	broad.mit.edu	37	X	84306435	84306435	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:84306435T>C	uc004eem.3	+	2	182	c.161T>C	c.(160-162)gTt>gCt	p.V54A	APOOL_uc010nmp.3_Intron	NM_198450	NP_940852	Q6UXV4	APOOL_HUMAN	Homo sapiens apolipoprotein O-like (APOOL), mRNA.	54						extracellular region				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCTAAATATGTTGAAGAGCAG	0.443000														106			77		0	0	1	0	0
ZNF746	155061	broad.mit.edu	37	7	149191301	149191301	+	Silent	SNP	G	A	A	rs139163284		TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:149191301G>A	uc010lpi.2	-	1	589	c.318C>T	c.(316-318)tcC>tcT	p.S106S	ZNF746_uc003wfw.2_Silent_p.S106S	NM_001163474	NP_001156946	Q6NUN9	ZN746_HUMAN	Homo sapiens zinc finger protein 746 (ZNF746), transcript variant 1, mRNA.	106	KRAB.				negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CTACCTTAGGGGACTCCCCCT	0.657000														126			64		0	0	1	0	0
GABRR3	200959	broad.mit.edu	37	3	97711708	97711708	+	RNA	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:97711708C>T	uc021xbo.1	-	8		c.1209G>A				NM_001105580		A8MPY1	GBRR3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, rho 3 (GABRR3), mRNA.						gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			large_intestine(2)|lung(1)	3						TTCCTGTCTTCTTGAATTGTT	0.473000														207			115		0	0	1	0	0
OR52A1	23538	broad.mit.edu	37	11	5173108	5173108	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:5173108C>T	uc010qyy.2	-	0	492	c.492G>A	c.(490-492)ctG>ctA	p.L164L		NM_012375	NP_036507	Q9UKL2	O52A1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily A, member 1 (OR52A1), mRNA.	164					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCACTTTATCAGTACTAGGC	0.453000														76			72		0	0	1	0	0
DBNL	28988	broad.mit.edu	37	7	44091429	44091429	+	Splice_Site	SNP	A	G	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:44091429A>G	uc003tjp.4	+	3	238	c.140_splice	c.e3-1	p.E47_splice	DBNL_uc003tjo.4_Splice_Site_p.E47_splice|DBNL_uc003tjq.4_Splice_Site_p.E47_splice|DBNL_uc011kbm.2_Splice_Site_p.E47_splice|DBNL_uc011kbo.2_Intron|DBNL_uc011kbp.2_Splice_Site_p.E47_splice|DBNL_uc011kbq.2_Intron|DBNL_uc011kbn.2_Intron|DBNL_uc011kbr.2_Splice_Site|DBNL_uc011kbs.2_5'Flank	NM_001014436	NP_001014436	Q9UJU6	DBNL_HUMAN	Homo sapiens drebrin-like (DBNL), transcript variant 2, mRNA.	47	ADF-H.				Rac protein signal transduction|activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis	cell cortex|cytoskeleton|cytosol|lamellipodium	actin binding|enzyme activator activity|identical protein binding			breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						TCTGCTGCAGAGGGTGGCCTG	0.597000														48			52		0	0	1	0	0
TNS1	7145	broad.mit.edu	37	2	218712502	218712502	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:218712502G>A	uc002vgt.2	-	16	2761	c.2363C>T	c.(2362-2364)cCt>cTt	p.P788L	TNS1_uc002vgr.2_Missense_Mutation_p.P788L|TNS1_uc002vgs.2_Missense_Mutation_p.P788L|TNS1_uc010zjv.1_Missense_Mutation_p.P788L|TNS1_uc010fvj.1_Missense_Mutation_p.P856L|TNS1_uc010fvk.1_Missense_Mutation_p.P913L|TNS1_uc010fvi.1_Missense_Mutation_p.P475L	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	Homo sapiens tensin 1 (TNS1), mRNA.	788						cytoplasm|cytoskeleton|focal adhesion	actin binding	p.P788S(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CCTGCCAGGAGGGACAGACTC	0.577000														79			49		0	0	1	0	0
ACTA1	58	broad.mit.edu	37	1	229568468	229568468	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:229568468G>A	uc001htm.3	-	2	394	c.289C>T	c.(289-291)Cgc>Tgc	p.R97C		NM_001100	NP_001091	P68133	ACTS_HUMAN	Homo sapiens actin, alpha 1, skeletal muscle (ACTA1), mRNA.	97					muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	GGAGCCACGCGAAGCTCGTTG	0.572000														241			113		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9001894	9001894	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:9001894G>A	uc002mkp.3	-	52	40558	c.40354C>T	c.(40354-40356)Cct>Tct	p.P13452S	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.P269S|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13454					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						GAGGTATCAGGAGCTGAGGAG	0.507000														25			22		0	0	1	0	0
OR1A1	8383	broad.mit.edu	37	17	3119589	3119589	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:3119589C>T	uc010vrc.2	+	0	675	c.675C>T	c.(673-675)ttC>ttT	p.F225F		NM_014565	NP_055380	Q9P1Q5	OR1A1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily A, member 1 (OR1A1), mRNA.	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						CCACAGTCTTCCAGGTTCCTT	0.478000														152			119		0	0	1	0	0
PPTC7	160760	broad.mit.edu	37	12	110983803	110983804	+	Silent	DNP	GG	AA	AA			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:110983803_110983804GG>AA	uc001trh.1	-	2	711_712	c.483_484CC>TT	c.(481-486)ttcctg>ttTTtg	p.161_162FL>FL		NM_139283	NP_644812	Q8NI37	PPTC7_HUMAN	Homo sapiens PTC7 protein phosphatase homolog (S. cerevisiae) (PPTC7), mRNA.	161	PP2C-like.						metal ion binding|phosphoprotein phosphatase activity			endometrium(1)|large_intestine(2)|lung(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	9						CTGACAACCAGGAAGCCTGAAT	0.550000														62			42		0	0	1	0	0
CLEC5A	23601	broad.mit.edu	37	7	141629994	141629994	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:141629994G>A	uc003vwv.1	-	6	674	c.477C>T	c.(475-477)ttC>ttT	p.F159F	CLEC5A_uc011krm.1_Missense_Mutation_p.S135L|CLEC5A_uc003vww.1_Silent_p.F158F|CLEC5A_uc010lnq.1_Silent_p.F136F|CLEC5A_uc010lnr.1_Non-coding_Transcript	NM_013252	NP_037384	Q9NY25	CLC5A_HUMAN	Homo sapiens C-type lectin domain family 5, member A (CLEC5A), mRNA.	159	C-type lectin.				anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development	cell surface|integral to plasma membrane	sugar binding|viral receptor activity			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					TCGCACAGTTGAAATTCTGAT	0.393000														75			58		0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73960001	73960001	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:73960001C>T	uc004eby.3	-	2	5008	c.4391G>A	c.(4390-4392)gGa>gAa	p.G1464E		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	1464					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						CATGTGCTTTCCCTTACATTT	0.453000														90			74		0	0	1	0	0
SCG2	7857	broad.mit.edu	37	2	224462785	224462785	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:224462785G>A	uc021vxk.1	-	0	1216	c.1216C>T	c.(1216-1218)Caa>Taa	p.Q406*	SCG2_uc002vnm.3_Nonsense_Mutation_p.Q406*	NM_003469	NP_003460	P13521	SCG2_HUMAN	Homo sapiens secretogranin II (SCG2), mRNA.	406					MAPKKK cascade|angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		ATCCTATTTTGGAACAGGTCT	0.517000														70			50		0	0	1	0	0
C3	718	broad.mit.edu	37	19	6693046	6693046	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:6693046G>A	uc002mfm.3	-	25	3341	c.3279C>T	c.(3277-3279)atC>atT	p.I1093I		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	1093					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		AGTCGATGGCGATGAGGTTGA	0.597000														141			109		0	0	1	0	0
SDAD1	55153	broad.mit.edu	37	4	76902587	76902587	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr4:76902587G>A	uc003hje.4	-	2	351	c.232C>T	c.(232-234)Cct>Tct	p.P78S	SDAD1_uc003hjf.4_5'UTR|SDAD1_uc011cbr.2_Missense_Mutation_p.P78S	NM_018115	NP_060585	Q9NVU7	SDA1_HUMAN	Homo sapiens SDA1 domain containing 1 (SDAD1), mRNA.	78					protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			ACCTCTTGAGGAAAATTACTT	0.408000														99			47		0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9560890	9560890	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr20:9560890G>A	uc002wnl.2	-	4	1437	c.892C>T	c.(892-894)Cca>Tca	p.P298S	PAK7_uc002wnk.2_Missense_Mutation_p.P298S|PAK7_uc002wnj.2_Missense_Mutation_p.P298S|PAK7_uc010gby.1_Missense_Mutation_p.P298S	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	298	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GCTCCAAATGGCATCATCGGT	0.547000														178			123		0	0	1	0	0
OR2T8	343172	broad.mit.edu	37	1	248084811	248084811	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:248084811C>T	uc010pzc.2	+	0	492	c.492C>T	c.(490-492)ttC>ttT	p.F164F		NM_001005522	NP_001005522	A6NH00	OR2T8_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 8 (OR2T8), mRNA.	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCCTGAGCTTCCCATATTGCG	0.577000														29			14		0	0	1	0	0
EPHB3	2049	broad.mit.edu	37	3	184299160	184299160	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:184299160T>G	uc003foz.3	+	14	3289	c.2852T>G	c.(2851-2853)tTt>tGt	p.F951C		NM_004443	NP_004434	P54753	EPHB3_HUMAN	Homo sapiens EPH receptor B3 (EPHB3), mRNA.	951	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			AGTGCGGGGTTTGCATCTTTT	0.587000														67			59		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152370931	152370931	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:152370931C>T	uc021vrb.1	-	129	17954	c.17925G>A	c.(17923-17925)agG>agA	p.R5975R	NEB_uc002txr.3_Silent_p.R2441R|NEB_uc002txu.3_Silent_p.R7676R|NEB_uc021vrc.1_Silent_p.R7676R|NEB_uc010fnx.3_Silent_p.R5963R|NEB_uc021vrd.1_Silent_p.R5975R|NEB_uc002txt.4_Silent_p.R480R	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	5975					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTAGATCTTTCCTGTACTCTT	0.393000														142			105		0	0	1	0	0
PRR12	57479	broad.mit.edu	37	19	50102853	50102853	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:50102853C>T	uc002poo.4	+	4	4003	c.4003C>T	c.(4003-4005)Ccc>Tcc	p.P1335S		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	Homo sapiens proline rich 12 (PRR12), mRNA.	514							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		TGTGCCACATCCCCCACCTTC	0.697000														8			9		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124390507	124390507	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr10:124390507C>T	uc001lgk.1	+	45	5775	c.5669C>T	c.(5668-5670)tCa>tTa	p.S1890L	DMBT1_uc001lgl.1_Missense_Mutation_p.S1880L|DMBT1_uc001lgm.1_Missense_Mutation_p.S1262L|DMBT1_uc021qaf.1_Missense_Mutation_p.S1890L|DMBT1_uc021qag.1_Missense_Mutation_p.S1880L|DMBT1_uc021qah.1_Missense_Mutation_p.S1262L|DMBT1_uc009xzz.1_Missense_Mutation_p.S1890L|DMBT1_uc010qtx.1_Missense_Mutation_p.S610L|DMBT1_uc009yab.1_Missense_Mutation_p.S593L|DMBT1_uc009yac.1_Missense_Mutation_p.S184L	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1890	SRCR 14.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				AATTTAAATTCATCCTATGGT	0.478000														13			29		0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32502582	32502582	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr21:32502582G>A	uc002yow.1	-	25	4466	c.3994C>T	c.(3994-3996)Cga>Tga	p.R1332*	TIAM1_uc011adk.1_Nonsense_Mutation_p.R1332*|TIAM1_uc011adl.1_Nonsense_Mutation_p.R1272*	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA.	1332	PH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						ATCATGTGTCGAAATCTGAAG	0.507000														188			129		0	0	1	0	0
ARHGAP28	79822	broad.mit.edu	37	18	6876188	6876188	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr18:6876188G>A	uc002knc.3	+	9	4326	c.1115G>A	c.(1114-1116)gGa>gAa	p.G372E	ARHGAP28_uc002kne.3_Missense_Mutation_p.G265E|ARHGAP28_uc010wzi.2_Missense_Mutation_p.G247E|ARHGAP28_uc002knf.3_Missense_Mutation_p.G256E	NM_001010000	NP_001010000	B4DXL2	B4DXL2_HUMAN	Homo sapiens Rho GTPase activating protein 28 (ARHGAP28), mRNA.	247					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				CGACTTTCAGGATGTACTGCT	0.388000														68			53		0	0	1	0	0
ADC	113451	broad.mit.edu	37	1	33562347	33562347	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:33562347C>T	uc009vug.3	+	5	865	c.793C>T	c.(793-795)Cca>Tca	p.P265S	ADC_uc001bwr.3_Missense_Mutation_p.P265S|ADC_uc001bws.3_Missense_Mutation_p.P265S|ADC_uc009vue.3_Missense_Mutation_p.P265S|ADC_uc001bwt.1_Missense_Mutation_p.P170S|ADC_uc001bwu.3_Missense_Mutation_p.P170S|ADC_uc001bwv.3_Missense_Mutation_p.P170S|ADC_uc001bwx.1_Missense_Mutation_p.P242S|ADC_uc009vuf.1_Missense_Mutation_p.P107S|ADC_uc001bwy.1_Missense_Mutation_p.P114S|ADC_uc001bwz.1_Missense_Mutation_p.P265S	NM_052998	NP_443724	Q96A70	ADC_HUMAN	Homo sapiens arginine decarboxylase (ADC), mRNA.	265					polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)	CCTGTACTTCCCAGAGGGCTG	0.522000														113			85		0	0	1	0	0
BC101079	0	broad.mit.edu	37	15	102292770	102292770	+	Nonsense_Mutation	SNP	C	T	T	rs149751844	by1000genomes	TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr15:102292770C>T	uc010usj.2	+	3	417	c.358C>T	c.(358-360)Cga>Tga	p.R120*	DQ593624_uc002bxp.4_5'Flank|DQ576888_uc021sxy.1_5'Flank|DQ596486_uc002bxz.4_5'Flank|DQ582294_uc021syc.1_5'Flank|DQ595661_uc021sye.1_5'Flank|DQ588439_uc002byd.3_5'Flank|DQ593353_uc002bye.3_5'Flank|DQ597703_uc002byf.1_5'Flank|DQ585237_uc002byg.3_5'Flank|DQ588452_uc021syg.1_5'Flank|DQ586526_uc002byi.3_5'Flank|DQ588428_uc002byk.3_5'Flank|DQ597703_uc002bym.3_5'Flank|DQ571896_uc010usm.2_5'Flank|DQ586526_uc021syh.1_5'Flank					Homo sapiens cDNA clone IMAGE:40009338.																		AGCGGCGCGACGAGATGCTGC	0.597000														28			3		0	0	1	0	0
RPL39	6170	broad.mit.edu	37	X	118923891	118923891	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:118923891C>T	uc004erx.1	-	1	154	c.87G>A	c.(85-87)atG>atA	p.M29I	SNORA69_uc004ery.1_5'Flank	NM_001000	NP_000991	P62891	RL39_HUMAN	Homo sapiens ribosomal protein L39 (RPL39), mRNA.	29					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome			endometrium(1)|large_intestine(2)	3						TTCCAGTTTTCATCCGAATCC	0.408000														82			42		0	0	1	0	0
SCUBE2	57758	broad.mit.edu	37	11	9051556	9051556	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:9051556G>C	uc001mhi.2	-	17	2282	c.2207C>G	c.(2206-2208)aCt>aGt	p.T736S	SCUBE2_uc021qdk.1_Missense_Mutation_p.T212S|SCUBE2_uc001mhj.2_Missense_Mutation_p.T638S	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 2 (SCUBE2), transcript variant 1, mRNA.	764						extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		ACATCGGTGAGTGGTGGTGTT	0.403000														50			32		0	0	1	0	0
WDR7	23335	broad.mit.edu	37	18	54694330	54694330	+	Silent	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr18:54694330G>A	uc002lgk.1	+	27	4576	c.4365G>A	c.(4363-4365)gcG>gcA	p.A1455A	WDR7_uc002lgl.1_Silent_p.A1422A	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	Homo sapiens WD repeat domain 7 (WDR7), transcript variant 1, mRNA.	1455										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TGCAGCCCGCGTCCCCCGGCT	0.617000														61			32		0	0	1	0	0
LILRB4	11006	broad.mit.edu	37	19	55179210	55179210	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:55179210G>A	uc002qgp.3	+	10	1528	c.1166G>A	c.(1165-1167)aGa>aAa	p.R389K	LILRB4_uc002qgq.3_Missense_Mutation_p.R388K|LILRB4_uc010ert.3_Missense_Mutation_p.R430K|LILRB4_uc010eru.3_Missense_Mutation_p.R419K	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 (LILRB4), transcript variant 1, mRNA.	389						integral to membrane|plasma membrane	antigen binding|receptor activity	p.R389R(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		ACAAAGGACAGACAGGCAGAA	0.587000														69			39		0	0	1	0	0
SLC2A6	11182	broad.mit.edu	37	9	136344106	136344106	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr9:136344106C>T	uc004cee.3	-	0	171	c.76G>A	c.(76-78)Gac>Aac	p.D26N	SLC2A6_uc004cef.3_Missense_Mutation_p.D26N|SLC2A6_uc004ceg.3_Missense_Mutation_p.D26N|SLC2A6_uc011mdj.1_Missense_Mutation_p.D26N	NM_017585	NP_060055	Q9UGQ3	GTR6_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 6 (SLC2A6), transcript variant 1, mRNA.	26						integral to membrane|plasma membrane	D-glucose transmembrane transporter activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		CGCGCCCTGTCCCCTGGCGAC	0.761000														1			13		0	0	1	0	0
MLXIP	22877	broad.mit.edu	37	12	122625501	122625501	+	Splice_Site	SNP	T	C	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr12:122625501T>C	uc001ubq.3	+	16	2617	c.2509_splice	c.e16-1	p.F837_splice	MLXIP_uc001ubt.3_Splice_Site_p.F444_splice	NM_014938	NP_055753	Q9HAP2	MLXIP_HUMAN	Homo sapiens MLX interacting protein (MLXIP), mRNA.	837	Mediates heterotypic interactions between MLXIP and MLX and is required for cytoplasmic localization.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		CACACTGCAGTTCAGCATCAT	0.602000														107			82		0	0	1	0	0
IQCG	84223	broad.mit.edu	37	3	197639610	197639610	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:197639610A>G	uc003fyo.3	-	7	1045	c.899T>C	c.(898-900)aTg>aCg	p.M300T	IQCG_uc003fyn.3_Missense_Mutation_p.M202T|IQCG_uc003fyp.3_Missense_Mutation_p.M300T	NM_001134435	NP_115639	Q9H095	IQCG_HUMAN	Homo sapiens IQ motif containing G (IQCG), transcript variant 2, mRNA.	300										autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		TTCGGTTTTCATCCTGAGTTT	0.483000														177			126		0	0	1	0	0
DENND2C	163259	broad.mit.edu	37	1	115168055	115168055	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:115168055G>A	uc001efd.1	-	3	1253	c.551C>T	c.(550-552)tCa>tTa	p.S184L	DENND2C_uc001eez.3_Non-coding_Transcript|DENND2C_uc001efc.1_Missense_Mutation_p.S184L	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA.	184										NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TATTCCGTATGAACTATCCAG	0.383000														48			35		0	0	1	0	0
ATP7A	538	broad.mit.edu	37	X	77298181	77298181	+	Silent	SNP	A	C	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:77298181A>C	uc004ecx.4	+	19	4060	c.3900A>C	c.(3898-3900)ggA>ggC	p.G1300G		NM_000052	NP_000043	Q04656	ATP7A_HUMAN	Homo sapiens ATPase, Cu++ transporting, alpha polypeptide (ATP7A), mRNA.	1300			G -> E (in MNKD).		ATP biosynthetic process|T-helper cell differentiation|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						CAATGGTGGGAGATGGAATCA	0.473000														251			157		0	0	1	0	0
CLEC5A	23601	broad.mit.edu	37	7	141631620	141631620	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr7:141631620G>A	uc003vwv.1	-	5	549	c.352C>T	c.(352-354)Ctt>Ttt	p.L118F	CLEC5A_uc011krm.1_Missense_Mutation_p.L95F|CLEC5A_uc003vww.1_Missense_Mutation_p.L117F|CLEC5A_uc010lnq.1_Missense_Mutation_p.L95F|CLEC5A_uc010lnr.1_Non-coding_Transcript	NM_013252	NP_037384	Q9NY25	CLC5A_HUMAN	Homo sapiens C-type lectin domain family 5, member A (CLEC5A), mRNA.	118	C-type lectin.				anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development	cell surface|integral to plasma membrane	sugar binding|viral receptor activity	p.L118V(2)		endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					ATGTCCTGAAGAAACTTCTGG	0.373000														54			42		0	0	1	0	0
HNRNPKP3	399881	broad.mit.edu	37	11	43283949	43283949	+	RNA	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:43283949C>T	uc001mxe.1	-	1		c.987G>A								Homo sapiens heterogeneous nuclear ribonucleoprotein K pseudogene 3 (HNRNPKP3), non-coding RNA.																		CTCTGTGGTTCATAAGCCATC	0.443000														20			18		0	0	1	0	0
CENPI	2491	broad.mit.edu	37	X	100402952	100402952	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:100402952C>T	uc004egx.3	+	18	2166	c.1896C>T	c.(1894-1896)ttC>ttT	p.F632F	CENPI_uc011mrg.2_Silent_p.F632F	NM_006733	NP_006724	Q92674	CENPI_HUMAN	Homo sapiens centromere protein I (CENPI), mRNA.	632					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						AGTTCAATTTCAGCAGCAAGA	0.363000														93			53		0	0	1	0	0
OR4D1	26689	broad.mit.edu	37	17	56233203	56233203	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:56233203G>A	uc010wno.2	+	0	689	c.689G>A	c.(688-690)gGa>gAa	p.G230E	MSX2P1_uc002ivn.3_5'Flank	NM_012374	NP_036506	Q15615	OR4D1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 1 (OR4D1), mRNA.	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						TCCCACTCGGGAAAGGCAAGG	0.507000														54			30		0	0	1	0	0
PTGDR	5729	broad.mit.edu	37	14	52741658	52741658	+	Silent	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:52741658C>T	uc001wzq.3	+	1	1158	c.1056C>T	c.(1054-1056)tcC>tcT	p.S352S		NM_000953	NP_000944	Q13258	PD2R_HUMAN	Homo sapiens prostaglandin D2 receptor (DP) (PTGDR), mRNA.	352						integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	GCAGCAATTCCACTAACATGG	0.368000														17			10		0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197172734	197172734	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:197172734C>T	uc002utm.1	-	10	2693	c.2510G>A	c.(2509-2511)cGa>cAa	p.R837Q	HECW2_uc002utl.1_Missense_Mutation_p.R481Q	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	837	Interaction with TP73.|WW 1.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						AGCTGTCGGTCGCTGCCACGT	0.567000														57			46		0	0	1	0	0
OR6T1	219874	broad.mit.edu	37	11	123813782	123813782	+	Missense_Mutation	SNP	G	A	A	rs76969055		TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:123813782G>A	uc010sab.2	-	0	764	c.764C>T	c.(763-765)tCc>tTc	p.S255F		NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily T, member 1 (OR6T1), mRNA.	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S255Y(2)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GAGAAAGATGGAACTGCCATA	0.522000														91			57		0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120612003	120612004	+	Frame_Shift_Del	DEL	GG	-	-			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:120612003_120612004delGG	uc001eik.3	-	0	314_315	c.17_18delCC	c.(16-18)cccfs	p.P6fs	NOTCH2_uc001eil.3_Frame_Shift_Del_p.P6fs|NOTCH2_uc001eim.4_5'UTR	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	6					Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.P6fs*27(4)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGCAGAGCGGGGCGCAGGGC	0.762			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				---	47	---	---	7	---					
BCL9	607	broad.mit.edu	37	1	147091501	147091501	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:147091501delC	uc001epq.3	+	7	2280	c.1540delC	c.(1540-1542)cccfs	p.P514fs	BCL9_uc010ozr.1_Frame_Shift_Del_p.P440fs	NM_004326	NP_004317	O00512	BCL9_HUMAN	Homo sapiens B-cell CLL/lymphoma 9 (BCL9), mRNA.	514	Poly-Pro.|Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GGTCCGAGGACCCCCCCCTCC	0.582			T	"""IGH@, IGL@"""	B-ALL								---	339	---	---	10	---					
CDC42BPA	8476	broad.mit.edu	37	1	227288840	227288857	+	In_Frame_Del	DEL	TCATAAAAGATACTTTTC	-	-	rs67804260		TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr1:227288840_227288857delTCATAAAAGATACTTTTC	uc001hqr.3	-	14	3028_3045	c.2085_2102delGAAAAGTATCTTTTATGA	c.(2083-2103)aagaaaagtatcttttatgaa>aaa	p.KSIFYE696del	CDC42BPA_uc001hqq.3_5'UTR|CDC42BPA_uc001hqs.3_In_Frame_Del_p.KSIFYE615del|CDC42BPA_uc009xes.3_In_Frame_Del_p.KSIFYE696del|CDC42BPA_uc010pvs.2_In_Frame_Del_p.KSIFYE696del	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN	Homo sapiens CDC42 binding protein kinase alpha (DMPK-like) (CDC42BPA), transcript variant B, mRNA.	696					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.K697fs*2(2)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TAATTCTTCTTCATAAAAGATACTTTTCTTTTCCAAAT	0.307													---	78	---	---	17	---					
MYT1L	23040	broad.mit.edu	37	2	1907023	1907023	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr2:1907023delA	uc002qxe.3	-	13	2688	c.1861delT	c.(1861-1863)tacfs	p.Y621fs	MYT1L_uc002qxd.3_Frame_Shift_Del_p.Y619fs|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	621					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)		TTGTTTCTGTAGCCATACTGA	0.468													---	38	---	---	29	---					
GPX1	2876	broad.mit.edu	37	3	49395674	49395676	+	In_Frame_Del	DEL	GCC	-	-	rs56041243		TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:49395674_49395676delGCC	uc021wxw.1	-	0	116_118	c.36_38delGGC	c.(34-39)gcggcc>gcc	p.12_13AA>A	GPX1_uc021wxx.1_In_Frame_Del_p.12_13AA>A	NM_000581	NP_000572	P07203	GPX1_HUMAN	Homo sapiens glutathione peroxidase 1 (GPX1), transcript variant 1, mRNA.	12					UV protection|anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion	cytosol|mitochondrion	SH3 domain binding|endopeptidase inhibitor activity|glutathione peroxidase activity	p.A12_A13delAA(2)		breast(1)|large_intestine(2)|lung(1)	4				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Glutathione(DB00143)	CACCGACTGGgccgccgccgccg	0.690													---	4	---	---	2	---					
CCDC80	151887	broad.mit.edu	37	3	112358682	112358682	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:112358682delT	uc003dzf.3	-	1	289	c.71delA	c.(70-72)cacfs	p.H24fs	CCDC80_uc011bhv.2_Frame_Shift_Del_p.H24fs|CCDC80_uc003dzg.3_Frame_Shift_Del_p.H24fs|CCDC80_uc003dzh.1_Frame_Shift_Del_p.H24fs	NM_199512	NP_955806	Q76M96	CCD80_HUMAN	Homo sapiens coiled-coil domain containing 80 (CCDC80), transcript variant 2, mRNA.	24										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						GGCATGGGGGTGGGGTTCTGA	0.557													---	153	---	---	7	---					
BCHE	590	broad.mit.edu	37	3	165548196	165548196	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:165548196delT	uc003fem.4	-	1	786	c.626delA	c.(625-627)aatfs	p.N209fs	BCHE_uc003fen.4_Intron	NM_000055	NP_000046	P06276	CHLE_HUMAN	Homo sapiens butyrylcholinesterase (BCHE), mRNA.	209					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	p.N209Y(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	GGCTGCTATATTTTTTTGAAC	0.458													---	181	---	---	7	---					
TRA2B	6434	broad.mit.edu	37	3	185637260	185637262	+	In_Frame_Del	DEL	TCC	-	-			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr3:185637260_185637262delTCC	uc003fpv.3	-	6	1021_1023	c.745_747delGGA	c.(745-747)ggadel	p.G249del	TRA2B_uc003fpt.3_Non-coding_Transcript|TRA2B_uc003fpu.3_Non-coding_Transcript|TRA2B_uc010hym.3_In_Frame_Del_p.G149del	NM_004593	NP_001230808	P62995	TRA2B_HUMAN	Homo sapiens transformer 2 beta homolog (Drosophila) (TRA2B), transcript variant 1, mRNA.	249	Arg/Ser-rich (RS2 domain).				nuclear mRNA splicing, via spliceosome	nucleus	RNA binding|nucleotide binding|protein binding			breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						CAGCTCTCCAtcctcctcctcct	0.404													---	127	---	---	7	---					
ATAD2	29028	broad.mit.edu	37	8	124384893	124384893	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr8:124384893delT	uc003yqh.4	-	2	462	c.354delA	c.(352-354)aaafs	p.K118fs	ATAD2_uc011lii.2_5'UTR|ATAD2_uc003yqi.4_Non-coding_Transcript|ATAD2_uc003yqj.3_Frame_Shift_Del_p.K118fs	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	Homo sapiens ATPase family, AAA domain containing 2 (ATAD2), mRNA.	118					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	p.E119fs*8(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TGTGCTCTTCTTTTTTTTTAT	0.269													---	332	---	---	12	---					
FAM22F	54754	broad.mit.edu	37	9	97080945	97080947	+	In_Frame_Del	DEL	AGA	-	-			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr9:97080945_97080947delAGA	uc004aup.1	-	6	2092_2094	c.2071_2073delTCT	c.(2071-2073)tctdel	p.S691del		NM_017561	NP_060031	A1L443	FA22F_HUMAN	Homo sapiens family with sequence similarity 22, member F (FAM22F), mRNA.	691				Missing (in Ref. 2; AAI30391 and 3; CAB61394).				p.S557delS(1)		central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(2)|prostate(2)|skin(2)|urinary_tract(1)	19		Acute lymphoblastic leukemia(62;0.136)				TGCTGGCAGGAGAAGGTGATGGG	0.611													---	2	---	---	6	---					
ZMIZ1	57178	broad.mit.edu	37	10	81070787	81070789	+	In_Frame_Del	DEL	CTC	-	-			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr10:81070787_81070789delCTC	uc001kaf.2	+	23	3514_3516	c.2942_2944delCTC	c.(2941-2946)gctcct>gct	p.P986del	ZMIZ1_uc001kag.2_In_Frame_Del_p.P862del|ZMIZ1_uc010qlq.1_Intron	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.	986	Pro-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CACAGTGGGGCTCCTCCTCCTCC	0.635													---	192	---	---	8	---					
NLRP6	171389	broad.mit.edu	37	11	281553	281555	+	In_Frame_Del	DEL	GAG	-	-			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:281553_281555delGAG	uc010qvs.2	+	3	1819_1821	c.1819_1821delGAG	c.(1819-1821)gagdel	p.E611del	NLRP6_uc010qvt.2_In_Frame_Del_p.E611del	NM_138329	NP_612202	P59044	NALP6_HUMAN	Homo sapiens NLR family, pyrin domain containing 6 (NLRP6), mRNA.	611	Poly-Glu.					cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CGAAGAGCCAGAGGAGGAGGAGG	0.670													---	287	---	---	9	---					
HRAS	3265	broad.mit.edu	37	11	533880	533881	+	Frame_Shift_Del	DEL	GC	-	-			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:533880_533881delGC	uc001lpv.3	-	2	363_364	c.175_176delGC	c.(175-177)gccfs	p.A59fs	HRAS_uc010qvw.2_Frame_Shift_Del_p.A59fs|HRAS_uc010qvx.2_Frame_Shift_Del_p.A59fs|HRAS_uc010qvy.2_Non-coding_Transcript	NM_005343	NP_005334	P01112	RASH_HUMAN	Homo sapiens v-Ha-ras Harvey rat sarcoma viral oncogene homolog (HRAS), transcript variant 1, mRNA.	59					Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|synaptic transmission	Golgi membrane|cytosol|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.A59T(2)|p.A59A(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	CTCCTGGCCGGCGGTATCCAGG	0.604		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)			---	183	---	---	119	---					
LRP4	4038	broad.mit.edu	37	11	46921521	46921522	+	Frame_Shift_Ins	INS	-	G	G	rs35014453		TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr11:46921521_46921522insG	uc001ndn.4	-	3	565_566	c.322_323insC	c.(322-324)cggfs	p.R108fs	LRP4_uc009ylh.2_Frame_Shift_Ins_p.R59fs	NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	108					Wnt receptor signaling pathway|endocytosis|negative regulation of canonical Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CTCACACTCCCGGGGGGCTGTG	0.609													---	108	---	---	47	---					
RBM26	64062	broad.mit.edu	37	13	79918806	79918807	+	Frame_Shift_Ins	INS	-	T	T			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr13:79918806_79918807insT	uc001vkz.2	-	14	2201_2202	c.2187_2188insA	c.(2185-2190)aaacagfs	p.K729fs	RBM26_uc001vky.2_Frame_Shift_Ins_p.K700fs|RBM26_uc001vla.2_Frame_Shift_Ins_p.K703fs|RBM26_uc001vkx.2_Frame_Shift_Ins_p.K439fs|RBM26_uc010tia.2_Frame_Shift_Ins_p.K84fs	NM_022118	NP_071401	Q5T8P6	RBM26_HUMAN	Homo sapiens RNA binding motif protein 26 (RBM26), mRNA.	727					mRNA processing		RNA binding|nucleotide binding|protein binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		GTACTTACCTGTTTTTTTTTCT	0.332													---	45	---	---	8	---					
abParts	0	broad.mit.edu	37	14	106573362	106573364	+	RNA	DEL	ACC	-	-	rs2003432	by1000genomes	TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr14:106573362_106573364delACC	uc021ser.1	-	1890		c.35331_35333delGGT								Parts of antibodies, mostly variable regions.																		ATATGGTACTACCACTACTACTA	0.522													---	481	---	---	9	---					
DNAJA3	9093	broad.mit.edu	37	16	4475962	4475962	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr16:4475962delC	uc002cwk.3	+	0	157	c.80delC	c.(79-81)gccfs	p.A27fs	DNAJA3_uc002cwl.3_Frame_Shift_Del_p.A27fs|DNAJA3_uc010uxk.2_5'UTR	NM_005147	NP_005138	Q96EY1	DNJA3_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily A, member 3 (DNAJA3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	27					activation of caspase activity|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of cell proliferation|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of protein kinase activity|neuromuscular junction development|positive regulation of apoptosis|positive regulation of protein ubiquitination|protein folding|protein stabilization|response to heat|response to interferon-gamma	cytosol|mitochondrial matrix|mitochondrial nucleoid|nucleus	ATP binding|NF-kappaB binding|heat shock protein binding|interferon-gamma receptor binding|metal ion binding|protein kinase binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2)	15						GGTAGAGGGGCCCGGCCGCCC	0.721													---	7	---	---	5	---					
IL27	246778	broad.mit.edu	37	16	28511201	28511201	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr16:28511201delT	uc002dqc.3	-	4	526	c.503delA	c.(502-504)gagfs	p.E168fs	NPIPL1_uc010vct.2_Intron	NM_145659	NP_663634	Q8NEV9	IL27A_HUMAN	Homo sapiens interleukin 27 (IL27), mRNA.	168	Glu-rich.				inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation|regulation of defense response to virus	extracellular space	cytokine activity|interleukin-27 receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	10						ctcctcttcctcctcctcctc	0.672													---	4	---	---	2	---					
KPNB1	3837	broad.mit.edu	37	17	45755530	45755530	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr17:45755530delA	uc002ilt.1	+	17	2558	c.2222delA	c.(2221-2223)cagfs	p.Q741fs	KPNB1_uc010wkw.1_Frame_Shift_Del_p.Q596fs|KPNB1_uc010wkx.1_Frame_Shift_Del_p.Q525fs	NM_002265	NP_002256	Q14974	IMB1_HUMAN	Homo sapiens karyopherin (importin) beta 1 (KPNB1), mRNA.	741					DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding			breast(1)|ovary(1)|pancreas(1)|skin(1)	4						ACTCTTCAGCAGGCCTCCCAA	0.428													---	111	---	---	94	---					
ADNP2	22850	broad.mit.edu	37	18	77894260	77894261	+	Frame_Shift_Ins	INS	-	C	C			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr18:77894260_77894261insC	uc002lnw.3	+	3	1419_1420	c.964_965insC	c.(964-966)tccfs	p.S322fs		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	Homo sapiens ADNP homeobox 2 (ADNP2), mRNA.	322	Pro-rich.				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A325fs*59(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		CCTCACTCATTCCCCCCCTGCT	0.644													---	180	---	---	7	---					
NWD1	284434	broad.mit.edu	37	19	16908642	16908642	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:16908642delT	uc002neu.4	+	15	3826	c.3404delT	c.(3403-3405)gttfs	p.V1135fs	NWD1_uc002net.4_Frame_Shift_Del_p.V1000fs|NWD1_uc002nev.4_Frame_Shift_Del_p.V929fs|NWD1_uc021uqg.1_Frame_Shift_Del_p.V1000fs	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	1135							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GAGACGGCTGTTTTTGGTACT	0.552													---	699	---	---	9	---					
SUGP2	10147	broad.mit.edu	37	19	19136394	19136394	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr19:19136394delT	uc002nkz.1	-	2	825	c.805delA	c.(805-807)atafs	p.I269fs	SUGP2_uc002nkx.2_Frame_Shift_Del_p.I255fs|SUGP2_uc002nla.1_Frame_Shift_Del_p.I255fs|SUGP2_uc002nlb.2_Frame_Shift_Del_p.I255fs|SUGP2_uc010xqk.1_Intron	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	Homo sapiens SURP and G patch domain containing 2 (SUGP2), transcript variant 2, mRNA.	255					RNA splicing|mRNA processing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						ACGGTGGGTATTTTTTTTGTG	0.502													---	345	---	---	8	---					
MED15	51586	broad.mit.edu	37	22	20918793	20918795	+	In_Frame_Del	DEL	CAG	-	-			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr22:20918793_20918795delCAG	uc002zsp.3	+	5	588_590	c.508_510delCAG	c.(508-510)cagdel	p.Q174del	MED15_uc002zsn.1_In_Frame_Del_p.Q93del|MED15_uc002zso.2_In_Frame_Del_p.Q103del|MED15_uc002zsq.3_In_Frame_Del_p.Q174del|MED15_uc010gso.3_In_Frame_Del_p.Q174del|MED15_uc002zsr.3_In_Frame_Del_p.Q148del|MED15_uc011ahs.2_In_Frame_Del_p.Q148del|MED15_uc011aht.1_In_Frame_Del_p.Q148del|MED15_uc002zss.3_In_Frame_Del_p.Q93del|MED15_uc011ahu.2_5'Flank	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	Homo sapiens mediator complex subunit 15 (MED15), transcript variant 1, mRNA.	174	Poly-Gln.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			gcagcagttccagcagcagcagc	0.616											OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	44	---	---	8	---					
LGALS1	3956	broad.mit.edu	37	22	38074623	38074624	+	Frame_Shift_Ins	INS	-	A	A			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chr22:38074623_38074624insA	uc003atn.3	+	2	320_321	c.223_224insA	c.(223-225)gagfs	p.E75fs		NM_002305	NP_002296	P09382	LEG1_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 1 (LGALS1), mRNA.	75	Galectin.				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of apoptosis	cytoplasm|extracellular space|proteinaceous extracellular matrix	galactoside binding|signal transducer activity			endometrium(1)|large_intestine(1)|lung(1)	3	Melanoma(58;0.0574)					CGAGCAGCGGGAGGCTGTCTTT	0.688													---	6	---	---	35	---					
F8	2157	broad.mit.edu	37	X	154157686	154157686	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A2MF-06A-11D-A21A-08	TCGA-EE-A2MF-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d1e6c-a778-45f7-ba1f-e5a654682a0f	ba23b700-550d-41b6-ac36-91ab1dd5df41	g.chrX:154157686delT	uc004fmt.3	-	13	4550	c.4379delA	c.(4378-4380)aatfs	p.N1460fs		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	1460	B.		N -> K (in HEMA).		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	p.N1460fs*5(3)|p.N1460fs*2(3)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AGAAAGGTTATTTTTTTTGGC	0.413													---	147	---	---	8	---					
