Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
NLRP3	114548	broad.mit.edu	37	1	247588006	247588006	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr1:247588006G>A	ENST00000366497.2	+	4	2041	c.1261G>A	c.(1261-1263)Gga>Aga	p.G421R	NLRP3_ENST00000391827.2_Missense_Mutation_p.G421R|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Missense_Mutation_p.G421R|NLRP3_ENST00000348069.2_Missense_Mutation_p.G421R|NLRP3_ENST00000336119.3_Missense_Mutation_p.G421R|NLRP3_ENST00000366496.2_Missense_Mutation_p.G421R	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	421	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CGTGTGCACTGGACTGAAACA	0.572000													16	28					0	0	0.038395	0	0
GRID2	2895	broad.mit.edu	37	4	94436461	94436461	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr4:94436461C>T	ENST00000282020.4	+	13	2350	c.2092C>T	c.(2092-2094)Cct>Tct	p.P698S	GRID2_ENST00000510992.1_Missense_Mutation_p.P603S	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	698					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)	AGGACTGAATCCTTTTGAGAG	0.478000													16	24					0	0	0.024245	0	0
ZNF347	84671	broad.mit.edu	37	19	53645800	53645800	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr19:53645800G>A	ENST00000452676.2	-	5	710	c.284C>T	c.(283-285)tCc>tTc	p.S95F	ZNF347_ENST00000601469.2_Missense_Mutation_p.S95F|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000334197.7_Missense_Mutation_p.S94F	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	94					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TACAAATTCGGAAGAGAGAGC	0.333000													3	4					0	0	0.009096	0	0
COL5A2	1290	broad.mit.edu	37	2	189963464	189963464	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr2:189963464G>A	ENST00000374866.3	-	5	665	c.391C>T	c.(391-393)Cca>Tca	p.P131S		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	131					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)			GCCGGTCCTGGACGACCACGT	0.338000													9	13					0	0	0.080935	0	0
NPAP1	23742	broad.mit.edu	37	15	24921209	24921209	+	Silent	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr15:24921209C>T	ENST00000329468.2	+	1	669	c.195C>T	c.(193-195)ttC>ttT	p.F65F		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.F65F(1)									CCAGCATCTTCGTCGCCCCTA	0.721000													24	23					0	0	0.099896	0	0
CALB2	794	broad.mit.edu	37	16	71408689	71408689	+	Silent	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr16:71408689C>T	ENST00000302628.4	+	3	290	c.213C>T	c.(211-213)ttC>ttT	p.F71F	CALB2_ENST00000349553.5_Silent_p.F71F	NM_001740.4	NP_001731.2	P22676	CALB2_HUMAN	calbindin 2	71	EF-hand 2.						calcium ion binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				TGAAGGAGTTCATGCAGAAGT	0.483000													9	21					0	0	0.058154	0	0
OR2T10	127069	broad.mit.edu	37	1	248756584	248756584	+	Silent	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr1:248756584G>A	ENST00000330500.2	-	1	516	c.486C>T	c.(484-486)atC>atT	p.I162I		NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	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)			AGCTCATGGCGATGGGAGTGA	0.527000													21	47					0	0	0.076483	0	0
TRIM51	84767	broad.mit.edu	37	11	55658834	55658834	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr11:55658834G>A	ENST00000449290.2	+	7	1177	c.1085G>A	c.(1084-1086)tGg>tAg	p.W362*	TRIM51_ENST00000244891.3_Nonsense_Mutation_p.W219*	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	362	B30.2/SPRY.					intracellular	zinc ion binding										AACAATTATTGGAAAGAGAAG	0.453000													11	29					0	0	0.033300	0	0
GARNL3	84253	broad.mit.edu	37	9	130111235	130111235	+	Silent	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr9:130111235C>T	ENST00000373387.4	+	17	1816	c.1464C>T	c.(1462-1464)ttC>ttT	p.F488F	GARNL3_ENST00000435213.2_Silent_p.F466F|GARNL3_ENST00000314904.5_Silent_p.F488F	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	488					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						GCAGTAATTTCCCTCATGAAG	0.527000													23	31					0	0	0.076483	0	0
TPTE2P6	374491	broad.mit.edu	37	13	25144813	25144813	+	RNA	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr13:25144813G>A	ENST00000453498.1	+	0	354																											GTCCTGCCATGGGACCAGAAG	0.463000													15	16					0	0	0.028581	0	0
CFI	3426	broad.mit.edu	37	4	110687915	110687915	+	Silent	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr4:110687915G>A	ENST00000394634.2	-	2	330	c.123C>T	c.(121-123)ctC>ctT	p.L41L	CFI_ENST00000512148.1_Silent_p.L41L|CFI_ENST00000510800.1_Silent_p.L41L|CFI_ENST00000394635.3_Silent_p.L41L	NM_000204.3	NP_000195.2	P05156	CFAI_HUMAN	complement factor I	41					complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		TATCGCAGGAGAGGTGAGTAT	0.418000													10	26					0	0	0.093190	0	0
NNMT	4837	broad.mit.edu	37	11	114183152	114183152	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr11:114183152G>A	ENST00000535401.1	+	5	1012	c.748G>A	c.(748-750)Gaa>Aaa	p.E250K	NNMT_ENST00000541754.1_Missense_Mutation_p.E55K|RP11-64D24.2_ENST00000544925.1_RNA|NNMT_ENST00000545255.1_Missense_Mutation_p.E55K|NNMT_ENST00000542647.1_Missense_Mutation_p.E55K|NNMT_ENST00000299964.3_Missense_Mutation_p.E250K			P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	250					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity			kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	GGCCAACAACGAAGGACTTTT	0.512000													30	50					0	0	0.050027	0	0
PARD3B	117583	broad.mit.edu	37	2	206166605	206166605	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr2:206166605T>C	ENST00000462231.1	+	19	2942	c.2782T>C	c.(2782-2784)Tac>Cac	p.Y928H	PARD3B_ENST00000351153.1_Intron|PARD3B_ENST00000358768.2_Intron|PARD3B_ENST00000349953.3_Intron|PARD3B_ENST00000406610.2_Intron			Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	0					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		TGGGGAAAGTTACAGTGATGA	0.478000													3	2					0	0	0.004672	0	0
DNAH8	1769	broad.mit.edu	37	6	38743591	38743591	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr6:38743591G>A	ENST00000359357.3	+	11	1429	c.1175G>A	c.(1174-1176)gGa>gAa	p.G392E	DNAH8_ENST00000449981.2_Missense_Mutation_p.G609E|DNAH8_ENST00000441566.1_Missense_Mutation_p.G392E					dynein, axonemal, heavy chain 8											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						ACCATAGAAGGAATAGATATT	0.294000													25	48					0	0	0.083992	0	0
SLC1A7	6512	broad.mit.edu	37	1	53559150	53559150	+	Silent	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr1:53559150G>A	ENST00000371494.4	-	6	907	c.780C>T	c.(778-780)atC>atT	p.I260I		NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	260						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	CCACCGCCACGATCTTCATGA	0.632000													10	16					0	0	0.069234	0	0
MYPN	84665	broad.mit.edu	37	10	69966583	69966583	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr10:69966583C>T	ENST00000358913.5	+	19	4204	c.3716C>T	c.(3715-3717)tCa>tTa	p.S1239L	MYPN_ENST00000540630.1_Missense_Mutation_p.S1239L|MYPN_ENST00000354393.2_Missense_Mutation_p.S964L	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	1239	Ig-like 5.|Interaction with ACTN.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GCCAAGAAATCAGACGCTGGA	0.483000													74	8					0	0	0.048971	0	0
SIGLECL1	284369	broad.mit.edu	37	19	51771841	51771841	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr19:51771841G>T	ENST00000316401.7	+	6	965	c.584G>T	c.(583-585)cGa>cTa	p.R195L	SIGLECL1_ENST00000597824.1_Missense_Mutation_p.R101L|SIGLECL1_ENST00000593968.1_3'UTR|CTD-3187F8.2_ENST00000597569.1_RNA	NM_173635.1	NP_775906.1			SIGLEC family like 1																		CAAGATAAACGAGCCAGCTAA	0.418000													25	21					4.87955e-14	5.03798e-14	0.108266	1	0
NLRP9	338321	broad.mit.edu	37	19	56223315	56223315	+	Silent	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr19:56223315G>A	ENST00000332836.2	-	8	2721	c.2694C>T	c.(2692-2694)acC>acT	p.T898T		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	898						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		AGCAGGCACGGGTGATCGGAC	0.547000													13	21					0	0	0.020292	0	0
OR56A3	390083	broad.mit.edu	37	11	5968822	5968822	+	Silent	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr11:5968822C>T	ENST00000329564.6	+	1	253	c.246C>T	c.(244-246)atC>atT	p.I82I		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCACTGTCATCCCCAAGGTCC	0.562000													38	76					0	0	0.098360	0	0
INSL4	3641	broad.mit.edu	37	9	5233832	5233832	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr9:5233832T>G	ENST00000239316.4	+	2	480	c.375T>G	c.(373-375)tgT>tgG	p.C125W		NM_002195.1	NP_002186.1	Q14641	INSL4_HUMAN	insulin-like 4 (placenta)	125					cell proliferation|cell-cell signaling|female pregnancy|multicellular organismal development|signal transduction	extracellular space|soluble fraction	hormone activity|insulin-like growth factor receptor binding			endometrium(2)|lung(2)|skin(1)|urinary_tract(1)	6	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14)		CATTCTGTTGTGAAGTAATTT	0.378000													16	9					0	0	0.028581	0	0
UBE2O	63893	broad.mit.edu	37	17	74388154	74388154	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr17:74388154G>A	ENST00000319380.7	-	16	3051	c.2987C>T	c.(2986-2988)cCc>cTc	p.P996L		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	996							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						ATCCTCGTAGGGGGTTCGAGT	0.617000													10	13					0	0	0.105934	0	0
KIF4B	285643	broad.mit.edu	37	5	154393562	154393562	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr5:154393562C>T	ENST00000435029.4	+	1	303	c.143C>T	c.(142-144)tCc>tTc	p.S48F		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	48	Kinesin-motor.				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)			ACTGATAAATCCTTCACCTAC	0.488000													10	20					0	0	0.058154	0	0
VPS13B	157680	broad.mit.edu	37	8	100673581	100673581	+	Splice_Site	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr8:100673581G>A	ENST00000395996.1	+	36	6161		c.e36-1		VPS13B_ENST00000358544.2_Splice_Site|VPS13B_ENST00000357162.2_Splice_Site			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)						protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TGTCACTTTAGATCCTGGGAA	0.353000													77	20					0	0	0.048971	0	0
FOSB	2354	broad.mit.edu	37	19	45973918	45973918	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr19:45973918C>T	ENST00000353609.3	+	2	750	c.158C>T	c.(157-159)tCc>tTc	p.S53F	FOSB_ENST00000417353.2_Missense_Mutation_p.S53F|FOSB_ENST00000590335.1_Missense_Mutation_p.S53F|ERCC1_ENST00000423698.2_Intron|FOSB_ENST00000443841.2_Intron|FOSB_ENST00000592811.1_Missense_Mutation_p.S4F|FOSB_ENST00000586615.1_Missense_Mutation_p.S4F|FOSB_ENST00000585836.1_Intron|FOSB_ENST00000591858.1_Intron|FOSB_ENST00000592436.1_Missense_Mutation_p.S53F	NM_006732.2	NP_006723.2	P53539	FOSB_HUMAN	FBJ murine osteosarcoma viral oncogene homolog B	53					behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	13		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)		ATGCCCGGTTCCTTCGTGCCC	0.607000													60	93					0	0	0.048971	0	0
PKD1L1	168507	broad.mit.edu	37	7	47930261	47930261	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr7:47930261C>T	ENST00000289672.2	-	16	2604	c.2554G>A	c.(2554-2556)Gag>Aag	p.E852K		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	852	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CATTGTGCCTCAAAGGAAACA	0.592000													62	9					0	0	0.048971	0	0
RGS7	6000	broad.mit.edu	37	1	240969562	240969562	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr1:240969562C>T	ENST00000366565.1	-	15	1528	c.1147G>A	c.(1147-1149)Gaa>Aaa	p.E383K	RGS7_ENST00000366562.4_Missense_Mutation_p.E383K|RGS7_ENST00000348120.2_Missense_Mutation_p.E330K|RGS7_ENST00000366564.1_Missense_Mutation_p.E383K|RGS7_ENST00000331110.7_Missense_Mutation_p.E357K|RGS7_ENST00000407727.1_Missense_Mutation_p.E383K|RGS7_ENST00000366563.1_Missense_Mutation_p.E383K|RGS7_ENST00000446183.2_Missense_Mutation_p.E299K|RGS7_ENST00000401882.1_Missense_Mutation_p.E330K	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	383	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TGCCATATTTCCTGAACTCTT	0.473000													18	38					0	0	0.043863	0	0
MROH2B	133558	broad.mit.edu	37	5	41018496	41018496	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr5:41018496C>T	ENST00000399564.4	-	27	3160	c.2710G>A	c.(2710-2712)Gaa>Aaa	p.E904K	MROH2B_ENST00000506092.2_Missense_Mutation_p.E459K	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		CTTTCTCTTTCCCACTCTTTT	0.363000													7	7					0	0	0.058154	0	0
CACNA1B	774	broad.mit.edu	37	9	140952579	140952579	+	Silent	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr9:140952579C>T	ENST00000277549.5	+	29	4342	c.1773C>T	c.(1771-1773)ttC>ttT	p.F591F	CACNA1B_ENST00000277551.2_Silent_p.F1395F|CACNA1B_ENST00000371355.4_Silent_p.F1396F|CACNA1B_ENST00000371363.1_Silent_p.F1395F|CACNA1B_ENST00000371357.1_Silent_p.F1396F|CACNA1B_ENST00000371372.1_Silent_p.F1395F			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1395					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TGTCCATCTTCTACGTGGTCT	0.532000													25	39					0	0	0.083992	0	0
PCLO	27445	broad.mit.edu	37	7	82584883	82584883	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr7:82584883C>T	ENST00000423517.2	-	5	5723	c.5386G>A	c.(5386-5388)Gaa>Aaa	p.E1796K	PCLO_ENST00000333891.8_Missense_Mutation_p.E1796K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1727					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						TGTTGCTGTTCTATTTCCCTC	0.383000													62	8					0	0	0.048971	0	0
GPHB5	122876	broad.mit.edu	37	14	63784435	63784435	+	RNA	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr14:63784435G>A	ENST00000539258.1	-	0	185							Q86YW7	GPHB5_HUMAN	glycoprotein hormone beta 5							extracellular region	hormone activity			breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978)		TCTTGGCCAGGAAAGTAAACT	0.612000													11	18					0	0	0.069234	0	0
NLRP13	126204	broad.mit.edu	37	19	56424103	56424103	+	Silent	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr19:56424103C>T	ENST00000588751.1	-	5	1104	c.1080G>A	c.(1078-1080)ctG>ctA	p.L360L	NLRP13_ENST00000342929.3_Silent_p.L360L			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	360	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TGATCGTGATCAGTAAGGTAG	0.473000													23	43					0	0	0.062417	0	0
EPS15L1	58513	broad.mit.edu	37	19	16496019	16496019	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr19:16496019G>A	ENST00000455140.2	-	21	2234	c.2168C>T	c.(2167-2169)cCc>cTc	p.P723L	EPS15L1_ENST00000594975.1_Missense_Mutation_p.P725L|EPS15L1_ENST00000535753.2_Missense_Mutation_p.P723L|EPS15L1_ENST00000248070.6_Missense_Mutation_p.P723L	NM_001258374.1	NP_001245303.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	723	15 X 3 AA repeats of D-P-F.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						GGTTCCAAAGGGATCTGCAAT	0.527000													29	54					0	0	0.041601	0	0
HGD	3081	broad.mit.edu	37	3	120366744	120366744	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr3:120366744G>A	ENST00000283871.5	-	7	908	c.449C>T	c.(448-450)tCa>tTa	p.S150L		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	150					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		GTCCCCATCTGAATTGTAAAA	0.353000													62	12					0	0	0.048971	0	0
VIT	5212	broad.mit.edu	37	2	37041325	37041325	+	Splice_Site	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr2:37041325G>A	ENST00000379242.3	+	16	2205		c.e16-1		VIT_ENST00000404084.1_Splice_Site|VIT_ENST00000379241.3_Splice_Site|VIT_ENST00000401530.1_Splice_Site|VIT_ENST00000497382.1_Splice_Site|VIT_ENST00000389975.3_Splice_Site	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin							proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				TGTCCCCACAGGAGTGATCAC	0.512000													11	12					0	0	0.069234	0	0
NLRP3	114548	broad.mit.edu	37	1	247587626	247587626	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr1:247587626C>T	ENST00000366497.2	+	4	1661	c.881C>T	c.(880-882)cCc>cTc	p.P294L	NLRP3_ENST00000391827.2_Missense_Mutation_p.P294L|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Missense_Mutation_p.P294L|NLRP3_ENST00000348069.2_Missense_Mutation_p.P294L|NLRP3_ENST00000336119.3_Missense_Mutation_p.P294L|NLRP3_ENST00000366496.2_Missense_Mutation_p.P294L	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	294	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GTGAGAAAACCCTCCAGAATC	0.587000													27	41					0	0	0.108266	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76481969	76481969	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr16:76481969C>T	ENST00000307431.8	+	6	981	c.596C>T	c.(595-597)tCc>tTc	p.S199F	CNTNAP4_ENST00000377504.4_Missense_Mutation_p.S199F|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.S203F|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.S175F	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	200					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						GATCAAAAATCCCTGAGCCCA	0.378000													17	26					0	0	0.033300	0	0
MPP7	143098	broad.mit.edu	37	10	28409223	28409223	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr10:28409223G>A	ENST00000337532.5	-	11	1063	c.787C>T	c.(787-789)Cag>Tag	p.Q263*	MPP7_ENST00000375732.1_Nonsense_Mutation_p.Q263*|MPP7_ENST00000445954.2_Nonsense_Mutation_p.Q138*|MPP7_ENST00000540098.1_Nonsense_Mutation_p.Q263*|MPP7_ENST00000375719.3_Nonsense_Mutation_p.Q263*	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	263	SH3.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						CTCATAATCTGAAGAATATCT	0.448000													51	19					0	0	0.048971	0	0
CBLC	23624	broad.mit.edu	37	19	45285647	45285647	+	Silent	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr19:45285647G>A	ENST00000270279.3	+	4	741	c.678G>A	c.(676-678)aaG>aaA	p.K226K	CBLC_ENST00000341505.4_Silent_p.K226K	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	226	Cbl-PTB.|SH2-like.				cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				CACTCCTCAAGAACTGGCAGC	0.612000			M		AML								79	125					0	0	0.048971	0	0
CLSTN1	22883	broad.mit.edu	37	1	9795138	9795138	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr1:9795138C>T	ENST00000377298.4	-	14	2770	c.1978G>A	c.(1978-1980)Gtc>Atc	p.V660I	CLSTN1_ENST00000361311.4_Missense_Mutation_p.V650I|CLSTN1_ENST00000377288.3_Missense_Mutation_p.V641I	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	660					homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		AAATGGTGGACGCCACTCAGG	0.542000													46	79					0	0	0.048971	0	0
ZNF683	257101	broad.mit.edu	37	1	26688335	26688335	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr1:26688335G>A	ENST00000436292.1	-	7	1502	c.1382C>T	c.(1381-1383)cCc>cTc	p.P461L	ZNF683_ENST00000349618.3_Missense_Mutation_p.P441L|ZNF683_ENST00000403843.1_Missense_Mutation_p.P461L|ZNF683_ENST00000374204.1_Missense_Mutation_p.P441L			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	461					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		AGAGGCCAGGGGCAGCTGGGT	0.612000													28	34					0	0	0.108266	0	0
GABRA6	2559	broad.mit.edu	37	5	161116047	161116047	+	Silent	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr5:161116047G>A	ENST00000523217.1	+	4	530	c.288G>A	c.(286-288)ttG>ttA	p.L96L	RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000274545.5_Silent_p.L106L	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	106					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGAATAATTTGATGGTCAGTA	0.413000										TCGA Ovarian(5;0.080)			20	21					0	0	0.076483	0	0
TEX29	121793	broad.mit.edu	37	13	111992268	111992268	+	Silent	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr13:111992268C>T	ENST00000283547.1	+	4	357	c.228C>T	c.(226-228)acC>acT	p.T76T		NM_152324.1	NP_689537.1	Q8N6K0	CM016_HUMAN	testis expressed 29	76						integral to membrane											TCGTCATCACCATCATCTACA	0.537000													35	66					0	0	0.098360	0	0
MYLK3	91807	broad.mit.edu	37	16	46763045	46763045	+	Splice_Site	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr16:46763045C>T	ENST00000394809.4	-	7	1778	c.1662_splice	c.e7-1	p.E555_splice	MYLK3_ENST00000536476.1_Splice_Site_p.E214_splice	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	555	Protein kinase.				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TTCACGTCCTCCTTGGGGGAA	0.522000													32	39					0	0	0.041601	0	0
CMKLR1	1240	broad.mit.edu	37	12	108686389	108686389	+	Silent	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr12:108686389G>A	ENST00000312143.7	-	3	714	c.351C>T	c.(349-351)ttC>ttT	p.F117F	CMKLR1_ENST00000552995.1_Silent_p.F115F|CMKLR1_ENST00000412676.1_Silent_p.F117F|CMKLR1_ENST00000397688.2_Silent_p.F115F|CMKLR1_ENST00000550402.1_Silent_p.F117F	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	117					chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						GGATGAGAAGGAAGTTGCTGA	0.532000													13	26					0	0	0.020292	0	0
DNAH11	8701	broad.mit.edu	37	7	21882282	21882282	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr7:21882282T>A	ENST00000328843.6	+	67	10864	c.10833T>A	c.(10831-10833)aaT>aaA	p.N3611K	DNAH11_ENST00000409508.3_Missense_Mutation_p.N3604K			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3611	AAA 5 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CTCTCCTCAATTTCACAGTCA	0.403000									Kartagener syndrome				21	3					0	0	0.069288	0	0
MIR329-2	574409	broad.mit.edu	37	14	101493512	101493512	+	RNA	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr14:101493512C>T	ENST00000385029.1	+	0	76					NR_029968.1																						ACCTCTTTTCCAGTATCAAAT	0.468000													30	37					0	0	0.037714	0	0
TPTEP1	387590	broad.mit.edu	37	22	17119551	17119551	+	RNA	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr22:17119551C>T	ENST00000426585.1	+	0	363																											ACTTTATATTCCTTCGGAGTA	0.348000													23	17					0	0	0.030593	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815038	106815038	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr8:106815038G>A	ENST00000407775.2	+	8	2978	c.2728G>A	c.(2728-2730)Gaa>Aaa	p.E910K	RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.E641K|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000517361.1_Missense_Mutation_p.E778K|ZFPM2_ENST00000520492.1_Missense_Mutation_p.E778K|RP11-152P17.2_ENST00000520433.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	910					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TGTCAGCTACGAAAGAAGCAT	0.468000													7	45					0	0	0.038147	0	0
ITGA4	3676	broad.mit.edu	37	2	182322966	182322966	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr2:182322966T>G	ENST00000397033.2	+	2	671	c.241T>G	c.(241-243)Tca>Gca	p.S81A	ITGA4_ENST00000339307.4_Missense_Mutation_p.S81A	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	81					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	CGCCAACGCTTCAGTGATCAA	0.607000													5	10					0	0	0.014758	0	0
TTN	7273	broad.mit.edu	37	2	179659276	179659276	+	Silent	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr2:179659276C>T	ENST00000589042.1	-	8	1472	c.1248G>A	c.(1246-1248)gtG>gtA	p.V416V	TTN_ENST00000359218.5_Silent_p.V416V|TTN_ENST00000460472.2_Silent_p.V416V|TTN_ENST00000591111.1_Silent_p.V416V|TTN_ENST00000342992.6_Silent_p.V416V|TTN_ENST00000342175.6_Silent_p.V416V|TTN_ENST00000360870.5_Silent_p.V416V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	416	Ala-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)			CATCTTGTTTCACCTAGATTA	0.418000													17	38					0	0	0.043863	0	0
POTEG	404785	broad.mit.edu	37	14	19553803	19553803	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr14:19553803G>A	ENST00000409832.3	+	1	439	c.387G>A	c.(385-387)atG>atA	p.M129I		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	129										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GCGCTTTCATGGAGCCGAGGT	0.597000													27	397					0	0	0.111260	0	0
LAD1	3898	broad.mit.edu	37	1	201351809	201351809	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr1:201351809G>A	ENST00000391967.2	-	8	1746	c.1445C>T	c.(1444-1446)aCc>aTc	p.T482I	LAD1_ENST00000367313.3_Missense_Mutation_p.T496I	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	482						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						AGATTCCTGGGTCCTGCTGAT	0.547000													4	3					0	0	0.009096	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101834499	101834499	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr5:101834499C>T	ENST00000506729.1	-	1	221	c.50G>A	c.(49-51)aGg>aAg	p.R17K	SLCO6A1_ENST00000389019.3_Missense_Mutation_p.R17K|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.R17K|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.R17K|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.R17K			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	17						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CTCTACTCCCCTTGAGACTTC	0.677000													53	91					0	0	0.048971	0	0
SPOCK3	50859	broad.mit.edu	37	4	167658745	167658745	+	Silent	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr4:167658745G>A	ENST00000357154.3	-	11	1151	c.1014C>T	c.(1012-1014)atC>atT	p.I338I	SPOCK3_ENST00000511531.1_Silent_p.I338I|SPOCK3_ENST00000541637.1_Silent_p.I240I|SPOCK3_ENST00000511269.1_Silent_p.I335I|SPOCK3_ENST00000541354.1_Silent_p.I218I|SPOCK3_ENST00000535728.1_Silent_p.I206I|SPOCK3_ENST00000502330.1_Silent_p.I338I|SPOCK3_ENST00000534949.1_Silent_p.I242I|SPOCK3_ENST00000510741.1_Silent_p.I295I|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000357545.4_Silent_p.I335I|SPOCK3_ENST00000504953.1_Silent_p.I335I|SPOCK3_ENST00000421836.2_Silent_p.I287I|SPOCK3_ENST00000512681.1_Silent_p.I240I|SPOCK3_ENST00000506886.1_Silent_p.I338I	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	338	Thyroglobulin type-1.				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			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)		CACACAGGGGGATATACTGTC	0.423000													16	23					0	0	0.033300	0	0
CD2	914	broad.mit.edu	37	1	117297429	117297429	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr1:117297429G>A	ENST00000369478.3	+	2	346	c.238G>A	c.(238-240)Gaa>Aaa	p.E80K	CD2_ENST00000369477.1_Missense_Mutation_p.E80K	NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	80	Ig-like V-type.				blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation	integral to plasma membrane	receptor activity			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)	GACTTTCAAGGAAAAAGATAC	0.294000													7	9					0	0	0.029380	0	0
PREX2	80243	broad.mit.edu	37	8	68992692	68992692	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr8:68992692G>A	ENST00000288368.4	+	16	1934	c.1657G>A	c.(1657-1659)Gaa>Aaa	p.E553K	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	553	DEP 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TGAAAAAAGCGAATTCAAAGA	0.323000													7	73					0	0	0.038147	0	0
WBP11P1	441818	broad.mit.edu	37	18	30092797	30092797	+	RNA	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr18:30092797C>T	ENST00000567636.1	+	0	1172					NR_003558.1																						CACGATGCTTCGTATGGCAGG	0.433000													12	27					0	0	0.093190	0	0
GRIA2	2891	broad.mit.edu	37	4	158254447	158254447	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr4:158254447G>A	ENST00000296526.7	+	8	1422	c.1097G>A	c.(1096-1098)gGa>gAa	p.G366E	GRIA2_ENST00000264426.9_Missense_Mutation_p.G366E|GRIA2_ENST00000393815.2_Missense_Mutation_p.G319E|GRIA2_ENST00000449365.1_Missense_Mutation_p.G319E|GRIA2_ENST00000507898.1_Missense_Mutation_p.G319E	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	366					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	GACCAGAATGGAAAAAGAATA	0.363000													6	3					0	0	0.029380	0	0
LRRC14B	389257	broad.mit.edu	37	5	195239	195239	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr5:195239A>C	ENST00000328278.3	+	2	1344	c.1316A>C	c.(1315-1317)gAc>gCc	p.D439A		NM_001080478.1	NP_001073947.1	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	439										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	10						TACCCACAGGACGAGCTGGCC	0.642000													49	76					0	0	0.048971	0	0
KCNH3	23416	broad.mit.edu	37	12	49951466	49951466	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr12:49951466G>A	ENST00000257981.6	+	15	3242	c.2982G>A	c.(2980-2982)tgG>tgA	p.W994*		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	994	Pro-rich.				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CAGCTTTCTGGACCTCCACCT	0.692000													15	25					0	0	0.038395	0	0
PAX7	5081	broad.mit.edu	37	1	19062256	19062256	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr1:19062256C>T	ENST00000420770.2	+	8	1369	c.1286C>T	c.(1285-1287)tCc>tTc	p.S429F	PAX7_ENST00000400661.3_Missense_Mutation_p.S427F|PAX7_ENST00000375375.3_Missense_Mutation_p.S429F	NM_001135254.1	NP_001128726.1	P23759	PAX7_HUMAN	paired box 7	429					anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		CGGGCCGACTCCATCAAGCCA	0.682000			T	FOXO1A	alveolar rhabdomyosarcoma								34	51					0	0	0.080422	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18808760	18808760	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr1:18808760C>T	ENST00000400664.1	+	1	1337	c.1285C>T	c.(1285-1287)Cgc>Tgc	p.R429C		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	429						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)		CCCACAGGTCCGCCTGGATCT	0.607000													14	46					0	0	0.105934	0	0
OR14J1	442191	broad.mit.edu	37	6	29274589	29274589	+	Silent	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr6:29274589C>T	ENST00000377160.2	+	1	187	c.123C>T	c.(121-123)ctC>ctT	p.L41L		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						CAGGCAACCTCCTCATTATCA	0.458000													21	84					0	0	0.055883	0	0
GHR	2690	broad.mit.edu	37	5	42719062	42719062	+	Missense_Mutation	SNP	G	G	A	rs6176	byFrequency	TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr5:42719062G>A	ENST00000230882.4	+	10	1643	c.1453G>A	c.(1453-1455)Gac>Aac	p.D485N	GHR_ENST00000357703.3_Missense_Mutation_p.D463N|GHR_ENST00000537449.1_Missense_Mutation_p.D298N	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	485					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GTCAAACATCGACTTTTATGC	0.488000													13	24					0	0	0.105934	0	0
SPAG17	200162	broad.mit.edu	37	1	118628610	118628610	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr1:118628610G>A	ENST00000336338.5	-	13	1762	c.1697C>T	c.(1696-1698)cCc>cTc	p.P566L		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	566						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CCATGGTGGGGGTAGAGGGAA	0.418000													16	17					0	0	0.024245	0	0
OR1L8	138881	broad.mit.edu	37	9	125330256	125330256	+	Silent	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr9:125330256G>A	ENST00000304865.2	-	1	582	c.501C>T	c.(499-501)ctC>ctT	p.L167L		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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						CACAGAAGGTGAGACGATTCA	0.502000													17	39					0	0	0.033300	0	0
PGR	5241	broad.mit.edu	37	11	100922294	100922294	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr11:100922294G>A	ENST00000325455.5	-	5	3671	c.2218C>T	c.(2218-2220)Cga>Tga	p.R740*	PGR_ENST00000263463.5_Nonsense_Mutation_p.R638*|PGR_ENST00000534013.1_Nonsense_Mutation_p.R146*	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN	progesterone receptor	740	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			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)	TGTAAGTTTCGAAAACCTACA	0.323000													13	22					0	0	0.020292	0	0
TAS2R7	50837	broad.mit.edu	37	12	10954752	10954752	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr12:10954752G>A	ENST00000240687.2	-	1	474	c.418C>T	c.(418-420)Ctc>Ttc	p.L140F		NM_023919.2	NP_076408.1	Q9NYW3	TA2R7_HUMAN	taste receptor, type 2, member 7	140					sensory perception of taste	integral to membrane	taste receptor activity			kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(3)	10						AACACAGAGAGAACCACGCAC	0.423000													15	15					0	0	0.020292	0	0
PCNT	5116	broad.mit.edu	37	21	47835985	47835985	+	Silent	SNP	T	T	C			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr21:47835985T>C	ENST00000359568.5	+	30	6260	c.6153T>C	c.(6151-6153)ggT>ggC	p.G2051G	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2051					cilium assembly|G2/M transition of mitotic cell cycle	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)					ACCTGCAGGGTAAAGAAAAAG	0.493000													8	18					0	0	0.047766	0	0
DRD2	1813	broad.mit.edu	37	11	113295250	113295250	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr11:113295250T>G	ENST00000362072.3	-	2	468	c.124A>C	c.(124-126)Acc>Ccc	p.T42P	DRD2_ENST00000544518.1_Missense_Mutation_p.T42P|DRD2_ENST00000538967.1_Missense_Mutation_p.T42P|DRD2_ENST00000355319.2_Missense_Mutation_p.T42P|DRD2_ENST00000346454.3_Missense_Mutation_p.T42P|DRD2_ENST00000542968.1_Missense_Mutation_p.T42P	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	42					activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	ATGAGCAGGGTGAGCAGTGTG	0.587000													28	36					0	0	0.034045	0	0
OR8D1	283159	broad.mit.edu	37	11	124180566	124180566	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr11:124180566C>T	ENST00000357821.2	-	1	167	c.97G>A	c.(97-99)Gga>Aga	p.G33R		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		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;0.0528)		ACATAGATTCCCAGGAACAGG	0.483000													24	43					0	0	0.108266	0	0
SEZ6	124925	broad.mit.edu	37	17	27286792	27286792	+	Silent	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr17:27286792C>T	ENST00000317338.12	-	8	2123	c.1695G>A	c.(1693-1695)ctG>ctA	p.L565L	PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000442608.3_Silent_p.L565L|SEZ6_ENST00000360295.9_Silent_p.L565L|SEZ6_ENST00000335960.6_Intron			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	565	Sushi 2.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			AGCCCTGCTCCAGGGTGTAGC	0.587000													12	23					0	0	0.105934	0	0
MYH7	4625	broad.mit.edu	37	14	23900689	23900689	+	Splice_Site	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr14:23900689C>T	ENST00000355349.3	-	9	896	c.732_splice	c.e9-1	p.G245_splice		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	245	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		AATGAATTTCCCCTGGAGAGA	0.512000													38	47					0	0	0.074837	0	0
WNK1	65125	broad.mit.edu	37	12	978199	978199	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr12:978199C>T	ENST00000537687.1	+	9	3950	c.3307C>T	c.(3307-3309)Ccc>Tcc	p.P1103S	WNK1_ENST00000315939.6_Intron|WNK1_ENST00000574564.1_Missense_Mutation_p.P402S|WNK1_ENST00000530271.2_Missense_Mutation_p.P1188S|WNK1_ENST00000340908.4_Intron|WNK1_ENST00000535572.1_Intron	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	849					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CTTCTGTTTCCCCCAAGGAAC	0.458000													113	363					0	0	0.048971	0	0
SALL4	57167	broad.mit.edu	37	20	50406949	50406949	+	Silent	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr20:50406949G>A	ENST00000217086.4	-	2	2184	c.2073C>T	c.(2071-2073)atC>atT	p.I691I	SALL4_ENST00000395997.3_Intron|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	691					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCTCTACATCGATGCTTTCGA	0.582000													14	43					0	0	0.028581	0	0
IGKV1D-16	28901	broad.mit.edu	37	2	90139365	90139365	+	RNA	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr2:90139365C>T	ENST00000492446.1	+	0	163																											CATCACTTGTCGGGCGAGTCA	0.498000													48	62					0	0	0.048971	0	0
KRT16P6	353194	broad.mit.edu	37	17	16722411	16722411	+	RNA	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr17:16722411G>A	ENST00000417510.1	-	0	1319																											TCATCTCCTGGATTTGGGCCA	0.562000													9	49					0	0	0.058154	0	0
ABCA12	26154	broad.mit.edu	37	2	215809775	215809775	+	Silent	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr2:215809775G>A	ENST00000272895.7	-	49	7512	c.7293C>T	c.(7291-7293)atC>atT	p.I2431I	AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Silent_p.I2113I	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2431	ABC transporter 2.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTTCTGAAATGATCTTCCAGA	0.388000													11	17					0	0	0.093190	0	0
GPR143	4935	broad.mit.edu	37	X	9711604	9711604	+	Splice_Site	SNP	C	C	G			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chrX:9711604C>G	ENST00000467482.1	-	6	914		c.e6+1		GPR143_ENST00000380929.2_Splice_Site			P51810	GP143_HUMAN	G protein-coupled receptor 143						calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception	apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction	dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				AGAAAGGTTACCAAATAATTA	0.408000													16	3					0	0	0.033300	0	0
EIF1AX	1964	broad.mit.edu	37	X	20156723	20156723	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chrX:20156723T>C	ENST00000379607.5	-	2	237	c.34A>G	c.(34-36)Aga>Gga	p.R12G	EIF1AX_ENST00000379593.1_Intron	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	12						cytosol	translation initiation factor activity			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						CCCCTGCGTCTGTTTTTACCT	0.303000													24	2					0	0	0.099896	0	0
FBXL7	23194	broad.mit.edu	37	5	15928559	15928559	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr5:15928559G>C	ENST00000504595.1	+	3	1169	c.688G>C	c.(688-690)Gtc>Ctc	p.V230L	FBXL7_ENST00000329673.7_Missense_Mutation_p.V218L|FBXL7_ENST00000510662.1_Missense_Mutation_p.V183L	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	230					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CAACGAGGCCGTCTTTGATGT	0.582000													19	44					0	0	0.083992	0	0
ROBO4	54538	broad.mit.edu	37	11	124761259	124761259	+	Silent	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr11:124761259C>T	ENST00000306534.3	-	12	2369	c.1884G>A	c.(1882-1884)agG>agA	p.R628R	RP11-664I21.6_ENST00000524433.1_5'UTR|ROBO4_ENST00000533054.1_Silent_p.R483R	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	628					angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		AAGAGAGTCCCCTGCGGCTGC	0.632000													14	31					0	0	0.028581	0	0
DHRS2	10202	broad.mit.edu	37	14	24114377	24114377	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr14:24114377G>A	ENST00000250383.6	+	9	1234	c.758G>A	c.(757-759)gGa>gAa	p.G253E	DHRS2_ENST00000344777.7_Missense_Mutation_p.E257K	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2	231					C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		GACTGTGCAGGAATCGTGTCC	0.577000													47	52					0	0	0.048971	0	0
PROKR1	10887	broad.mit.edu	37	2	68882087	68882087	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr2:68882087G>C	ENST00000303786.3	+	3	981	c.561G>C	c.(559-561)tgG>tgC	p.W187C	PROKR1_ENST00000394342.2_Missense_Mutation_p.W187C			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	187						integral to membrane|plasma membrane	neuropeptide Y receptor activity			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCTTGGTGTGGACGGTGTCCA	0.557000													31	40					0	0	0.054565	0	0
FBXL7	23194	broad.mit.edu	37	5	15928186	15928186	+	Silent	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr5:15928186C>T	ENST00000504595.1	+	3	796	c.315C>T	c.(313-315)tcC>tcT	p.S105S	FBXL7_ENST00000329673.7_Silent_p.S93S|FBXL7_ENST00000510662.1_Silent_p.S58S	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	105					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						GGCTCGCCTCCAGACCCCAGA	0.687000													5	6					0	0	0.014758	0	0
RGS7	6000	broad.mit.edu	37	1	241094032	241094032	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr1:241094032C>T	ENST00000366565.1	-	6	751	c.370G>A	c.(370-372)Gaa>Aaa	p.E124K	RGS7_ENST00000366562.4_Missense_Mutation_p.E124K|RGS7_ENST00000348120.2_Intron|RGS7_ENST00000366564.1_Missense_Mutation_p.E124K|RGS7_ENST00000331110.7_Missense_Mutation_p.E98K|RGS7_ENST00000407727.1_Missense_Mutation_p.E124K|RGS7_ENST00000366563.1_Missense_Mutation_p.E124K|RGS7_ENST00000446183.2_Missense_Mutation_p.E40K|RGS7_ENST00000401882.1_Intron	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	124					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TCTGTGTTTTCCGGCTCCCAA	0.383000													30	74					0	0	0.050027	0	0
DSCAM	1826	broad.mit.edu	37	21	42080414	42080414	+	Silent	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr21:42080414C>T	ENST00000400454.1	-	2	804	c.327G>A	c.(325-327)ggG>ggA	p.G109G		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	109	Ig-like C2-type 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TTCTAATTTTCCCTGAAGGAT	0.443000													13	29					0	0	0.024245	0	0
HOXA6	3203	broad.mit.edu	37	7	27187315	27187315	+	Silent	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr7:27187315C>T	ENST00000222728.3	-	1	78	c.54G>A	c.(52-54)caG>caA	p.Q18Q	HOXA-AS3_ENST00000521197.1_RNA|HOXA-AS3_ENST00000521231.1_RNA|HOXA-AS3_ENST00000518947.2_RNA|HOXA3_ENST00000467897.2_Intron|HOXA-AS3_ENST00000518848.1_RNA|HOXA6_ENST00000521478.1_Intron	NM_024014.3	NP_076919.1	P31267	HXA6_HUMAN	homeobox A6	18						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1)	10						AGAAGGAGTCCTGGCCGCTGG	0.597000													61	8					0	0	0.048971	0	0
PLXNB2	23654	broad.mit.edu	37	22	50722063	50722063	+	Silent	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr22:50722063G>A	ENST00000449103.1	-	15	2678	c.2538C>T	c.(2536-2538)tcC>tcT	p.S846S	PLXNB2_ENST00000359337.4_Silent_p.S846S|PLXNB2_ENST00000496720.1_5'UTR			O15031	PLXB2_HUMAN	plexin B2	846	IPT/TIG 1.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCGGCTGAAAGGAGCAGTTCC	0.657000													7	10					0	0	0.038147	0	0
LACC1	144811	broad.mit.edu	37	13	44464257	44464257	+	Silent	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr13:44464257C>T	ENST00000441843.1	+	6	1626	c.1141C>T	c.(1141-1143)Cta>Tta	p.L381L	LACC1_ENST00000325686.6_Silent_p.L381L	NM_001128303.1	NP_001121775.1	Q8IV20	CM031_HUMAN	laccase (multicopper oxidoreductase) domain containing 1	381																	AAGGATTCTTCTAGAACAGGG	0.378000													14	17					0	0	0.038395	0	0
OR4A16	81327	broad.mit.edu	37	11	55110996	55110996	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr11:55110996G>A	ENST00000314721.2	+	1	370	c.320G>A	c.(319-321)gGt>gAt	p.G107D		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G107V(1)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TTACTTGGTGGTGCAGAGGTC	0.448000													61	71					0	0	0.048971	0	0
OPRK1	4986	broad.mit.edu	37	8	54147522	54147522	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr8:54147522G>A	ENST00000265572.3	-	3	704	c.407C>T	c.(406-408)tCc>tTc	p.S136F	OPRK1_ENST00000524278.1_Missense_Mutation_p.S47F|RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000520287.1_Missense_Mutation_p.S136F	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	136					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	GTAATCAATGGAAATTACTAT	0.473000													10	79					0	0	0.058154	0	0
SPATA6	54558	broad.mit.edu	37	1	48861019	48861019	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr1:48861019G>A	ENST00000371847.3	-	8	952	c.788C>T	c.(787-789)cCc>cTc	p.P263L	SPATA6_ENST00000396199.3_Missense_Mutation_p.P191L|SPATA6_ENST00000371843.3_Missense_Mutation_p.P263L	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	263					cell differentiation|multicellular organismal development|spermatogenesis	extracellular region		p.P263H(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						GGGACTTGGGGGATCAACCTA	0.413000													6	9					0	0	0.021553	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554243	140554243	+	Silent	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr5:140554243C>T	ENST00000231137.3	+	1	2001	c.1827C>T	c.(1825-1827)gcC>gcT	p.A609A		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		609	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTCAAGGCCACGGAGCCCG	0.711000													38	102					0	0	0.048971	0	0
ADCY9	115	broad.mit.edu	37	16	4016876	4016876	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr16:4016876G>A	ENST00000294016.3	-	11	3500	c.2962C>T	c.(2962-2964)Ctc>Ttc	p.L988F		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	988					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						AAGAGCAGGAGAAAGAAGACG	0.592000													30	101					0	0	0.086207	0	0
MUC16	94025	broad.mit.edu	37	19	9083554	9083554	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr19:9083554C>T	ENST00000397910.4	-	1	8464	c.8261G>A	c.(8260-8262)gGa>gAa	p.G2754E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2754	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						ACCAGTAGTTCCCGCAGGCAA	0.493000													27	26					0	0	0.034045	0	0
PTPN11	5781	broad.mit.edu	37	12	112940052	112940052	+	Silent	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr12:112940052C>T	ENST00000351677.2	+	14	1902	c.1704C>T	c.(1702-1704)ccC>ccT	p.P568P		NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	572					axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						CAACGCCACCCTGTGCAGAGT	0.418000			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome				27	52					0	0	0.034045	0	0
WNT8A	7478	broad.mit.edu	37	5	137424747	137424747	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr5:137424747G>A	ENST00000506684.1	+	4	789	c.553G>A	c.(553-555)Gcc>Acc	p.A185T	WNT8A_ENST00000398754.1_Missense_Mutation_p.A167T			Q9H1J5	WNT8A_HUMAN	wingless-type MMTV integration site family, member 8A	167					brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CAACAACAGGGCCGGCAGACT	0.488000													40	52					0	0	0.042209	0	0
ZNF573	126231	broad.mit.edu	37	19	38229581	38229581	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr19:38229581G>A	ENST00000339503.4	-	8	2137	c.1636C>T	c.(1636-1638)Cat>Tat	p.H546Y	ZNF573_ENST00000357309.3_Missense_Mutation_p.H516Y|ZNF573_ENST00000590414.2_Missense_Mutation_p.H604Y|ZNF573_ENST00000392138.1_Missense_Mutation_p.H517Y|ZNF573_ENST00000536220.1_Missense_Mutation_p.H516Y	NM_152360.3	NP_689573.3	Q86YE8	ZN573_HUMAN	zinc finger protein 573	584					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H546Y(1)		NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			CCACCAGTATGAATTTTCTGA	0.388000													16	15					0	0	0.024245	0	0
MUC16	94025	broad.mit.edu	37	19	9070154	9070154	+	Silent	SNP	A	A	C			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr19:9070154A>C	ENST00000397910.4	-	3	17495	c.17292T>G	c.(17290-17292)acT>acG	p.T5764T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5766	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						AGAAGGCAGGAGTTGATGTAG	0.458000													25	44					0	0	0.099896	0	0
OXA1L	5018	broad.mit.edu	37	14	23240112	23240112	+	Silent	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr14:23240112C>T	ENST00000358043.5	+	7	1203	c.885C>T	c.(883-885)ttC>ttT	p.F295F	OXA1L_ENST00000604262.1_Silent_p.F311F|OXA1L_ENST00000285848.5_Silent_p.F371F|OXA1L_ENST00000412791.1_Silent_p.F311F			Q15070	OXA1L_HUMAN	oxidase (cytochrome c) assembly 1-like	311					aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization	integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex	protein homodimerization activity|ribosome binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)		CCATGCATTTCCCCACGGTAT	0.512000													21	29					0	0	0.055883	0	0
VWC2L	402117	broad.mit.edu	37	2	215440511	215440511	+	Silent	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr2:215440511G>A	ENST00000312504.5	+	4	1438	c.636G>A	c.(634-636)tcG>tcA	p.S212S	VWC2L_ENST00000427124.1_3'UTR|AC107218.3_ENST00000412896.1_RNA|AC107218.3_ENST00000437883.1_RNA	NM_001080500.2	NP_001073969.1	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain containing protein 2-like	212						extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						CTCAGTGTTCGAAACGTGAAT	0.468000													55	69					0	0	0.048971	0	0
SYT13	57586	broad.mit.edu	37	11	45274137	45274137	+	Silent	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr11:45274137G>A	ENST00000020926.3	-	4	792	c.681C>T	c.(679-681)ctC>ctT	p.L227L		NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	227	C2 1.					transport vesicle				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						CCGCCAGGGGGAGCACCAGGC	0.677000											OREG0020928	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	51					0	0	0.076483	0	0
SPAG17	200162	broad.mit.edu	37	1	118526470	118526470	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr1:118526470C>T	ENST00000336338.5	-	42	5901	c.5836G>A	c.(5836-5838)Gaa>Aaa	p.E1946K	SPAG17_ENST00000492438.1_5'UTR	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1946						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		ACAGCTGTTTCGTTTGCATCT	0.313000													8	8					0	0	0.069234	0	0
ARHGAP28	79822	broad.mit.edu	37	18	6882253	6882253	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr18:6882253C>T	ENST00000419673.2	+	10	1148	c.931C>T	c.(931-933)Ctc>Ttc	p.L311F	ARHGAP28_ENST00000314319.3_Missense_Mutation_p.L311F|ARHGAP28_ENST00000383472.4_Missense_Mutation_p.L470F|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.L293F|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.L306F|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.L311F|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.L470F|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.L418F	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN	Rho GTPase activating protein 28	293					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)				ACCCACCTCTCTCTTCCCTGT	0.383000													15	15					0	0	0.033300	0	0
MUC5B	727897	broad.mit.edu	37	11	1261137	1261137	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr11:1261137G>A	ENST00000447027.1	+	28	3759	c.3701G>A	c.(3700-3702)gGt>gAt	p.G1234D	MUC5B_ENST00000529681.1_Missense_Mutation_p.G1231D			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1231	Cys-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TATGACGTCGGTGCAAGGGTC	0.652000													10	22					0	0	0.080935	0	0
BCRP7	100133163	broad.mit.edu	37	22	18846025	18846025	+	RNA	SNP	G	G	C	rs5993363		TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr22:18846025G>C	ENST00000412938.1	+	0	3383																											GACGTTGAAGGCTGCCTTCAG	0.647000													3	32					0	0	0.004672	0	0
SLC16A14	151473	broad.mit.edu	37	2	230914621	230914621	+	Splice_Site	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr2:230914621C>T	ENST00000295190.4	-	3	718		c.e3-1			NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14							integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		ATGAAAGGGCCTGTCACAGAG	0.468000													13	12					0	0	0.055883	0	0
ZFP64	55734	broad.mit.edu	37	20	50701141	50701141	+	Silent	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr20:50701141G>A	ENST00000361387.2	-	9	1953	c.1893C>T	c.(1891-1893)tcC>tcT	p.S631S	ZFP64_ENST00000371523.4_Silent_p.S412S|ZFP64_ENST00000371518.2_Intron	NM_199427.2	NP_955459.2	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	476					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						GCTGCCCCACGGAGACCAGGG	0.597000													15	69					0	0	0.038395	0	0
RBP4	5950	broad.mit.edu	37	10	95360166	95360166	+	Silent	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr10:95360166G>A	ENST00000371467.1	-	4	658	c.339C>T	c.(337-339)tcC>tcT	p.S113S	RBP4_ENST00000371464.3_Silent_p.S113S|FFAR4_ENST00000604414.1_Intron|RBP4_ENST00000371469.2_Silent_p.S111S			P02753	RET4_HUMAN	retinol binding protein 4, plasma	113					cardiac muscle tissue development|embryonic organ morphogenesis|embryonic retina morphogenesis in camera-type eye|embryonic skeletal system development|female genitalia morphogenesis|gluconeogenesis|glucose homeostasis|heart trabecula formation|lung development|maintenance of gastrointestinal epithelium|negative regulation of cardiac muscle cell proliferation|positive regulation of immunoglobulin secretion|positive regulation of insulin secretion|response to retinoic acid|retinol metabolic process|urinary bladder development|uterus development|vagina development	extracellular space	protein binding|retinal binding|retinol binding			large_intestine(1)|lung(3)|skin(1)	5		Colorectal(252;0.122)			Vitamin A(DB00162)	TCTGGAGAAAGGAGGCTACGC	0.557000													79	7					0	0	0.048971	0	0
ZNF101	94039	broad.mit.edu	37	19	19790500	19790500	+	Silent	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr19:19790500C>T	ENST00000592502.1	+	4	812	c.702C>T	c.(700-702)atC>atT	p.I234I	ZNF101_ENST00000415784.2_Silent_p.I114I|ZNF101_ENST00000444249.2_3'UTR			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	234					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						GAAAACCTATCGATTATCCCA	0.358000													11	11					0	0	0.069234	0	0
MYF5	4617	broad.mit.edu	37	12	81112667	81112667	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr12:81112667C>T	ENST00000228644.3	+	3	757	c.605C>T	c.(604-606)tCc>tTc	p.S202F		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	202					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						AACTCCTTATCCAGCTTGGAT	0.438000													27	46					0	0	0.045705	0	0
TTN	7273	broad.mit.edu	37	2	179585787	179585787	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr2:179585787C>T	ENST00000589042.1	-	79	23183	c.22959G>A	c.(22957-22959)tgG>tgA	p.W7653*	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Nonsense_Mutation_p.W7336*|TTN_ENST00000342992.6_Nonsense_Mutation_p.W6409*|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7336	Ig-like 58.						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)			TGTTGTATTTCCAACTTTCAT	0.413000													24	45					0	0	0.083992	0	0
PWWP2B	170394	broad.mit.edu	37	10	134219302	134219302	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr10:134219302C>T	ENST00000305233.5	+	2	1357	c.1298C>T	c.(1297-1299)tCg>tTg	p.S433L	PWWP2B_ENST00000368609.4_Missense_Mutation_p.S433L	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	433										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)		GAGGCCAGATCGTCCGGCTCG	0.697000													22	3					0	0	0.069288	0	0
BAG6	7917	broad.mit.edu	37	6	31610669	31610669	+	Silent	SNP	G	G	C			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr6:31610669G>C	ENST00000404765.2	-	15	2269	c.1980C>G	c.(1978-1980)ccC>ccG	p.P660P	BAG6_ENST00000375964.6_Silent_p.P630P|BAG6_ENST00000211379.5_Silent_p.P624P|BAG6_ENST00000439687.2_Intron|BAG6_ENST00000470875.1_5'UTR|BAG6_ENST00000362049.6_Silent_p.P624P|BAG6_ENST00000375976.4_Silent_p.P624P			P46379	BAG6_HUMAN	BCL2-associated athanogene 6	630	Pro-rich.				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						CAGTGATGGTGGGAGAAGCCA	0.592000													111	332					0	0	0.048971	0	0
MYO18A	399687	broad.mit.edu	37	17	27493346	27493346	+	Silent	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr17:27493346G>A	ENST00000527372.1	-	2	793	c.613C>T	c.(613-615)Ctg>Ttg	p.L205L	MYO18A_ENST00000354329.4_Silent_p.L205L|MYO18A_ENST00000531253.1_Silent_p.L205L|MYO18A_ENST00000533112.1_Silent_p.L205L	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	205					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GGCAGGCGCAGGTCGACTGGG	0.667000													34	64					0	0	0.042209	0	0
SHROOM3	57619	broad.mit.edu	37	4	77675569	77675569	+	Silent	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr4:77675569C>T	ENST00000296043.6	+	7	4886	c.3933C>T	c.(3931-3933)tcC>tcT	p.S1311S		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1311					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GTGATTCCTCCGTTCCTAGTG	0.577000													30	46					0	0	0.034045	0	0
OVOL2	58495	broad.mit.edu	37	20	18022287	18022287	+	Silent	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr20:18022287C>T	ENST00000278780.6	-	3	644	c.402G>A	c.(400-402)ctG>ctA	p.L134L	OVOL2_ENST00000483661.1_5'UTR	NM_021220.2	NP_067043.2	Q9BRP0	OVOL2_HUMAN	ovo-like zinc finger 2	134					negative regulation of keratinocyte differentiation|negative regulation of Notch signaling pathway|negative regulation of transcription by competitive promoter binding|regulation of cell cycle|regulation of keratinocyte proliferation|transcription, DNA-dependent	nucleus	DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)	6						GGTGACGGTTCAGCATGCGCT	0.602000													41	19					0	0	0.045515	0	0
SYT17	51760	broad.mit.edu	37	16	19194877	19194877	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr16:19194877C>T	ENST00000562034.1	+	3	3974	c.176C>T	c.(175-177)cCa>cTa	p.P59L	SYT17_ENST00000568115.1_Missense_Mutation_p.P59L|SYT17_ENST00000562711.2_Missense_Mutation_p.P116L|SYT17_ENST00000355377.2_Missense_Mutation_p.P120L			Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	120						membrane|synaptic vesicle	transporter activity			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						CCCAGCTCTCCACTCATCGAT	0.532000													41	43					0	0	0.042209	0	0
AHNAK2	113146	broad.mit.edu	37	14	105410205	105410205	+	Silent	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr14:105410205C>T	ENST00000333244.5	-	7	11702	c.11583G>A	c.(11581-11583)acG>acA	p.T3861T	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3861						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GAGCTTGGACCGTCAGGTCGG	0.617000													55	83					0	0	0.048971	0	0
P2RX2	22953	broad.mit.edu	37	12	133195513	133195513	+	Silent	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr12:133195513G>A	ENST00000389110.3	+	1	148	c.111G>A	c.(109-111)agG>agA	p.R37R	P2RX2_ENST00000352418.4_Intron|P2RX2_ENST00000449132.2_Silent_p.R37R|P2RX2_ENST00000348800.5_Silent_p.R37R|P2RX2_ENST00000351222.4_Intron|P2RX2_ENST00000350048.5_Silent_p.R37R|P2RX2_ENST00000343948.4_Silent_p.R37R	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2	37					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity			NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		TCGTGGTGAGGAACCGGCGCC	0.756000													13	28					0	0	0.038395	0	0
FAM135B	51059	broad.mit.edu	37	8	139163500	139163500	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr8:139163500G>A	ENST00000395297.1	-	13	3388	c.3218C>T	c.(3217-3219)tCc>tTc	p.S1073F		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1073										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AACTCCAAAGGATCCCAAAGG	0.522000										HNSCC(54;0.14)			77	18					0	0	0.048971	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5232586	5232586	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr5:5232586G>A	ENST00000274181.7	+	12	1945	c.1807G>A	c.(1807-1809)Gga>Aga	p.G603R		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	603	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G603R(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CAGGACCTGCGGAGGGGGAGT	0.567000													24	53					0	0	0.108266	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23816008	23816008	+	Silent	SNP	A	A	C			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr4:23816008A>C	ENST00000264867.2	-	8	1217	c.1098T>G	c.(1096-1098)ggT>ggG	p.G366G	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	366					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				CCTCGTGTCCACCAGTGAGGA	0.478000													46	54					0	0	0.042209	0	0
FSTL5	56884	broad.mit.edu	37	4	162402241	162402241	+	Silent	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr4:162402241G>A	ENST00000306100.5	-	13	1975	c.1539C>T	c.(1537-1539)ttC>ttT	p.F513F	FSTL5_ENST00000427802.2_Silent_p.F503F|FSTL5_ENST00000379164.4_Silent_p.F512F|FSTL5_ENST00000536695.1_Silent_p.F512F	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	513						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CAACATAAATGAACTTGTCTT	0.383000													31	50					0	0	0.050027	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				51	7					0	0	0.048971	0	0
AMIGO2	347902	broad.mit.edu	37	12	47471383	47471383	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr12:47471383A>G	ENST00000266581.4	-	2	1869	c.1403T>C	c.(1402-1404)tTt>tCt	p.F468S	AMIGO2_ENST00000429635.1_Missense_Mutation_p.F468S|AMIGO2_ENST00000321382.3_Missense_Mutation_p.F468S|AMIGO2_ENST00000550413.1_Missense_Mutation_p.F468S	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	468					heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					GGGTTCCAAAAACACCACTCT	0.547000													12	14					0	0	0.080935	0	0
NYNRIN	57523	broad.mit.edu	37	14	24884610	24884610	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr14:24884610T>A	ENST00000382554.3	+	9	3973	c.3655T>A	c.(3655-3657)Ttt>Att	p.F1219I		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1219					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						CCTCAAGCATTTTTCCCGCTG	0.632000													29	41					0	0	0.108266	0	0
ME3	10873	broad.mit.edu	37	11	86161345	86161345	+	Missense_Mutation	SNP	C	C	T	rs144643070		TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr11:86161345C>T	ENST00000543262.1	-	9	1341	c.1015G>A	c.(1015-1017)Gag>Aag	p.E339K	ME3_ENST00000359636.2_Missense_Mutation_p.E339K|RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000393324.3_Missense_Mutation_p.E339K	NM_001161586.1	NP_001155058.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	339					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	CCACATACCTCGCCTGCACCT	0.493000													9	15					0	0	0.047766	0	0
TTN	7273	broad.mit.edu	37	2	179611630	179611630	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr2:179611630G>A	ENST00000360870.5	-	46	15719	c.15497C>T	c.(15496-15498)tCa>tTa	p.S5166L	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	7083	Ig-like 32.						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)			TGTACCAAATGAATCGGAACG	0.398000													15	26					0	0	0.024245	0	0
CADM4	199731	broad.mit.edu	37	19	44131905	44131905	+	Silent	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr19:44131905C>T	ENST00000222374.2	-	2	150	c.102G>A	c.(100-102)gtG>gtA	p.V34V		NM_145296.1	NP_660339.1	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4	34	Ig-like V-type.				cell adhesion	integral to membrane				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				CACCCTCAGCCACTGTCACGT	0.512000													43	68					0	0	0.048971	0	0
MAP3K9	4293	broad.mit.edu	37	14	71205045	71205045	+	Silent	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr14:71205045C>T	ENST00000554752.2	-	8	1760	c.1761G>A	c.(1759-1761)gaG>gaA	p.E587E	MAP3K9_ENST00000553414.1_Silent_p.E329E|MAP3K9_ENST00000555993.2_Silent_p.E587E|MAP3K9_ENST00000554146.1_Silent_p.E324E|MAP3K9_ENST00000381250.4_Silent_p.E587E			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	587					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CCCTCTTCTCCTCCTCCTCCC	0.572000													27	39					0	0	0.099896	0	0
COPA	1314	broad.mit.edu	37	1	160305037	160305037	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr1:160305037G>A	ENST00000241704.7	-	4	533	c.304C>T	c.(304-306)Cat>Tat	p.H102Y	COPA_ENST00000368069.3_Missense_Mutation_p.H102Y	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	102					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTTACATGATGAAAAAACGTG	0.378000													3	8					0	0	0.004672	0	0
CCDC74B	91409	broad.mit.edu	37	2	130897757	130897757	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr2:130897757G>A	ENST00000392984.3	-	4	1920	c.1177C>T	c.(1177-1179)Caa>Taa	p.Q393*	CCDC74B_ENST00000409943.3_Nonsense_Mutation_p.Q225*|CCDC74B_ENST00000310463.6_Nonsense_Mutation_p.Q291*			Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	291										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					CTCACCTCTTGGGTCTGCAGG	0.662000													23	26					0	0	0.037714	0	0
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373000													4	92					0	0	0.009096	0	0
NF2	4771	broad.mit.edu	37	22	30035121	30035121	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr22:30035121C>T	ENST00000338641.4	+	3	724	c.283C>T	c.(283-285)Cac>Tac	p.H95Y	NF2_ENST00000397789.3_Missense_Mutation_p.H95Y|NF2_ENST00000361166.4_Missense_Mutation_p.H95Y|NF2_ENST00000403999.3_Missense_Mutation_p.H95Y|NF2_ENST00000353887.4_Intron|NF2_ENST00000403435.1_Missense_Mutation_p.H95Y|NF2_ENST00000413209.2_Missense_Mutation_p.H95Y|NF2_ENST00000347330.5_Intron|NF2_ENST00000361452.4_Intron|NF2_ENST00000334961.7_Intron|NF2_ENST00000361676.4_Missense_Mutation_p.H53Y	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	95	FERM.				actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.?(3)|p.H84_F100del(1)|p.F94fs*9(1)|p.V86_Q111>E(1)|p.H95fs*3(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						AGTCACCTTTCACTTCTTGGC	0.428000			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2				10	25					0	0	0.069234	0	0
AKAP4	8852	broad.mit.edu	37	X	49958326	49958326	+	Silent	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chrX:49958326G>A	ENST00000376056.2	-	5	1161	c.1011C>T	c.(1009-1011)gtC>gtT	p.V337V	AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000358526.2_Silent_p.V346V|AKAP4_ENST00000376064.3_Silent_p.V337V|AKAP4_ENST00000481402.1_5'UTR			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	346	PKA-RI-alpha subunit binding domain (By similarity).				cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					TCATGAGAGAGACCATCATGT	0.483000													4	0					0	0	0.009096	0	0
COL19A1	1310	broad.mit.edu	37	6	70778326	70778326	+	Silent	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr6:70778326G>A	ENST00000322773.4	+	15	1284	c.1182G>A	c.(1180-1182)ggG>ggA	p.G394G	COL19A1_ENST00000393344.1_Silent_p.G16G	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	394	Triple-helical region 2 (COL2).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GTTCCCTGGGGATACAAGGCC	0.418000													7	3					0	0	0.038147	0	0
ZNF267	10308	broad.mit.edu	37	16	31927748	31927748	+	Silent	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr16:31927748C>T	ENST00000300870.10	+	4	2387	c.2178C>T	c.(2176-2178)aaC>aaT	p.N726N	RP11-170L3.8_ENST00000575471.1_RNA	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405.3	Q14586	ZN267_HUMAN	zinc finger protein 267	726					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						AAGCCTTTAACTCTAGGTCAT	0.388000													14	15					0	0	0.105934	0	0
CPSF6	11052	broad.mit.edu	37	12	69656228	69656228	+	Silent	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr12:69656228C>T	ENST00000435070.2	+	9	1655	c.1545C>T	c.(1543-1545)gaC>gaT	p.D515D	CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000456847.3_Silent_p.D442D|CPSF6_ENST00000266679.8_Silent_p.D552D	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	515	Arg-rich.|Sufficient for nuclear targeting.				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			GTAGTAGAGACCGTCATGACG	0.483000													10	28					0	0	0.080935	0	0
LAMB2	3913	broad.mit.edu	37	3	49162246	49162246	+	Silent	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr3:49162246G>A	ENST00000418109.1	-	22	3161	c.2997C>T	c.(2995-2997)gcC>gcT	p.A999A	LAMB2_ENST00000305544.4_Silent_p.A999A|LAMB2_ENST00000464891.1_5'UTR	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	999	Laminin EGF-like 10.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGGGGTCACAGGCATCAGGAT	0.617000													47	9					0	0	0.048971	0	0
GSTA1	2938	broad.mit.edu	37	6	52657664	52657664	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr6:52657664G>C	ENST00000334575.5	-	6	691	c.536C>G	c.(535-537)cCt>cGt	p.P179R	GSTA1_ENST00000493331.1_5'UTR	NM_145740.3	NP_665683.1	P08263	GSTA1_HUMAN	glutathione S-transferase alpha 1	179	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)	CTTCAGCAGAGGGAAGCTGGA	0.547000													30	10					0	0	0.064281	0	0
TTF1	7270	broad.mit.edu	37	9	135277532	135277532	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr9:135277532G>A	ENST00000334270.2	-	2	716	c.677C>T	c.(676-678)tCc>tTc	p.S226F		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	226					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		CCGGTTACTGGACTTTTTCTT	0.502000													15	18					0	0	0.020292	0	0
TRPC6	7225	broad.mit.edu	37	11	101375472	101375472	+	Silent	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr11:101375472C>T	ENST00000344327.3	-	2	652	c.228G>A	c.(226-228)ggG>ggA	p.G76G	TRPC6_ENST00000532133.1_Silent_p.G76G|TRPC6_ENST00000348423.4_Silent_p.G76G|TRPC6_ENST00000526713.1_5'UTR|TRPC6_ENST00000360497.4_Silent_p.G76G	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	76					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)		CTAACCTTCTCCCCTTCTCAC	0.468000													32	53					0	0	0.050027	0	0
KCNH5	27133	broad.mit.edu	37	14	63246607	63246607	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr14:63246607C>T	ENST00000322893.7	-	10	2126	c.1858G>A	c.(1858-1860)Gaa>Aaa	p.E620K	KCNH5_ENST00000394968.1_Missense_Mutation_p.E562K|KCNH5_ENST00000420622.2_Intron	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	620					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		AGGGTGGTTTCCTTCCAGAAG	0.433000													15	18					0	0	0.024245	0	0
PCDHA7	56141	broad.mit.edu	37	5	140215867	140215867	+	Silent	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr5:140215867G>A	ENST00000525929.1	+	1	1899	c.1899G>A	c.(1897-1899)acG>acA	p.T633T	PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.T633T|PCDHA1_ENST00000504120.2_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGATCAGCACGACACGAGCCC	0.647000													32	39					0	0	0.050027	0	0
NKD1	85407	broad.mit.edu	37	16	50583352	50583352	+	Silent	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr16:50583352C>T	ENST00000268459.3	+	3	302	c.78C>T	c.(76-78)agC>agT	p.S26S	NKD1_ENST00000564336.1_3'UTR	NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	26					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		TCGCCGTGAGCGCTGCCTGGG	0.682000													3	24					0	0	0.004672	0	0
PEX19	5824	broad.mit.edu	37	1	160254895	160254895	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr1:160254895C>T	ENST00000368072.5	-	1	41	c.20G>A	c.(19-21)gGc>gAc	p.G7D	PEX19_ENST00000440949.3_5'UTR|DCAF8_ENST00000556710.1_5'UTR	NM_001193644.1|NM_002857.3	NP_001180573.1|NP_002848.1			peroxisomal biogenesis factor 19											cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)	11	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GACACTACAGCCTTCCTCAGC	0.642000													29	38					0	0	0.064281	0	0
SLC24A3	57419	broad.mit.edu	37	20	19664910	19664910	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr20:19664910G>A	ENST00000328041.6	+	11	1189	c.992G>A	c.(991-993)cGa>cAa	p.R331Q		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	331						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						GCTGGCCTTCGAATCATGATA	0.542000													24	61					0	0	0.069288	0	0
KLHL26	55295	broad.mit.edu	37	19	18775198	18775198	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr19:18775198A>G	ENST00000300976.4	+	2	301	c.211A>G	c.(211-213)Aga>Gga	p.R71G	KLHL26_ENST00000596843.1_3'UTR|KLHL26_ENST00000599006.1_Missense_Mutation_p.R71G|KLHL26_ENST00000595182.1_Missense_Mutation_p.R71G	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	71	BTB.									breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						GACTATTAACAGAGAGGCCTT	0.642000													29	51					0	0	0.050027	0	0
HAUS7	55559	broad.mit.edu	37	X	152722639	152722639	+	Silent	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chrX:152722639G>A	ENST00000421080.2	-	7	1181	c.15C>T	c.(13-15)ctC>ctT	p.L5L	TREX2_ENST00000334497.2_5'UTR|HAUS7_ENST00000484394.1_5'UTR|HAUS7_ENST00000370212.3_Silent_p.L144L|TREX2_ENST00000338525.2_5'UTR|TREX2_ENST00000370232.1_5'UTR|HAUS7_ENST00000370219.3_Silent_p.L144L|TREX2_ENST00000330912.2_5'UTR|HAUS7_ENST00000370211.4_Silent_p.L134L			Q99871	HAUS7_HUMAN	HAUS augmin-like complex, subunit 7	144					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleolus|plasma membrane|spindle	thioesterase binding			endometrium(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)	19						GGATGGTATCGAGCAACTGGT	0.577000													10	1					0	0	0.069234	0	0
SLC44A5	204962	broad.mit.edu	37	1	75704210	75704210	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr1:75704210C>T	ENST00000370855.5	-	10	757	c.644G>A	c.(643-645)gGg>gAg	p.G215E	SLC44A5_ENST00000535611.1_Missense_Mutation_p.G85E|SLC44A5_ENST00000370859.3_Missense_Mutation_p.G215E	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	215						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						TGCAGCAATCCCGAGTTCTAC	0.383000													15	19					0	0	0.020292	0	0
CD163L1	283316	broad.mit.edu	37	12	7531623	7531623	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr12:7531623C>T	ENST00000313599.3	-	9	2379	c.2322G>A	c.(2320-2322)tgG>tgA	p.W774*	CD163L1_ENST00000396630.1_Nonsense_Mutation_p.W774*|CD163L1_ENST00000416109.2_Nonsense_Mutation_p.W784*|CD163L1_ENST00000544331.1_5'UTR			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	774	SRCR 7.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CAGTCTGTTTCCACTCCCATC	0.388000													23	54					0	0	0.076483	0	0
GHR	2690	broad.mit.edu	37	5	42711312	42711312	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr5:42711312G>A	ENST00000230882.4	+	7	812	c.622G>A	c.(622-624)Gac>Aac	p.D208N	GHR_ENST00000357703.3_Missense_Mutation_p.D186N|GHR_ENST00000537449.1_Missense_Mutation_p.D21N	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	208	Fibronectin type-III.				2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TTGAAAGATGGACCCTATATT	0.368000													15	17					0	0	0.033300	0	0
OR8D1	283159	broad.mit.edu	37	11	124180567	124180567	+	Silent	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr11:124180567C>T	ENST00000357821.2	-	1	166	c.96G>A	c.(94-96)ctG>ctA	p.L32L		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		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;0.0528)		CATAGATTCCCAGGAACAGGA	0.488000													24	43					0	0	0.108266	0	0
RGS22	26166	broad.mit.edu	37	8	101065100	101065100	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr8:101065100G>A	ENST00000360863.6	-	10	1813	c.1619C>T	c.(1618-1620)cCt>cTt	p.P540L	RGS22_ENST00000523437.1_Missense_Mutation_p.P528L|RGS22_ENST00000523287.1_Missense_Mutation_p.P359L	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	540					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TTGTGGAAAAGGGTCAATATC	0.438000													46	326					0	0	0.048971	0	0
CA10	56934	broad.mit.edu	37	17	49713368	49713368	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr17:49713368C>T	ENST00000451037.2	-	7	1577	c.637G>A	c.(637-639)Gat>Aat	p.D213N	CA10_ENST00000442502.2_Missense_Mutation_p.D213N|CA10_ENST00000340813.6_Missense_Mutation_p.D219N|CA10_ENST00000285273.4_Missense_Mutation_p.D213N|CA10_ENST00000571918.1_5'UTR|CA10_ENST00000570565.1_Missense_Mutation_p.D138N	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	213					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			AAATATGCATCATCTAGAGAA	0.363000													17	20					0	0	0.038395	0	0
BRAF	673	broad.mit.edu	37	7	140453137	140453137	+	Missense_Mutation	SNP	C	C	T	rs121913227		TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr7:140453137C>T	ENST00000288602.6	-	15	1858	c.1798G>A	c.(1798-1800)Gtg>Atg	p.V600M		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600K(252)|p.V600R(44)|p.V600M(21)|p.V600L(9)|p.T599_R603>I(2)|p.T599_V600>IAL(2)|p.V600Q(2)|p.T599_V600insT(2)|p.T599_V600insTT(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	CGAGATTTCACTGTAGCTAGA	0.363000	V600M(IGR1_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				51	7					0	0	0.048971	0	0
PXDNL	137902	broad.mit.edu	37	8	52359637	52359637	+	Silent	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr8:52359637G>A	ENST00000356297.4	-	12	1552	c.1452C>T	c.(1450-1452)ggC>ggT	p.G484G	PXDNL_ENST00000543296.1_Silent_p.G484G	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	484	Ig-like C2-type 3.				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)				ATTCATATTGGCCTTGATCGT	0.473000													37	310					0	0	0.086207	0	0
KCNJ12	3768	broad.mit.edu	37	17	21319578	21319578	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr17:21319578G>A	ENST00000583088.1	+	3	1819	c.924G>A	c.(922-924)atG>atA	p.M308I	KCNJ12_ENST00000331718.5_Missense_Mutation_p.M308I	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		CCACAGCCATGACCACCCAGG	0.607000										Prostate(3;0.18)			22	99					0	0	0.091800	0	0
ABCC9	10060	broad.mit.edu	37	12	21997416	21997416	+	Splice_Site	SNP	C	C	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr12:21997416C>A	ENST00000261200.4	-	26	3315		c.e26+1		ABCC9_ENST00000345162.2_Splice_Site|ABCC9_ENST00000261201.4_Splice_Site|RP11-729I10.2_ENST00000539874.1_RNA	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9						defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CAGTTACTCACCTGATCAATG	0.328000													20	70					1.22574e-08	1.26144e-08	0.069288	1	0
DST	667	broad.mit.edu	37	6	56471716	56471716	+	Silent	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr6:56471716G>A	ENST00000370754.5	-	39	7610	c.7611C>T	c.(7609-7611)gcC>gcT	p.A2537A	DST_ENST00000361203.3_Silent_p.A2359A|DST_ENST00000244364.6_Intron|DST_ENST00000370769.4_Silent_p.A2359A|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000446842.2_Silent_p.A2033A|DST_ENST00000312431.6_Silent_p.A2359A			Q03001	DYST_HUMAN	dystonin	2359					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			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)			GAGACACAATGGCATTATCAG	0.438000													17	8					0	0	0.033300	0	0
DHRS7C	201140	broad.mit.edu	37	17	9683179	9683179	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr17:9683179C>T	ENST00000330255.4	-	3	456	c.444G>A	c.(442-444)atG>atA	p.M148I	DHRS7C_ENST00000571134.1_Missense_Mutation_p.M147I	NM_001220493.1	NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	148						extracellular region	binding|oxidoreductase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						AATTGGCATCCATGATCTTTT	0.488000													5	9					0	0	0.029380	0	0
AP5M1	55745	broad.mit.edu	37	14	57741245	57741245	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr14:57741245C>T	ENST00000261558.3	+	2	764	c.358C>T	c.(358-360)Ccg>Tcg	p.P120S	AP5M1_ENST00000431972.2_Missense_Mutation_p.P134S	NM_018229.3	NP_060699.3	Q9H0R1	MUDEN_HUMAN	adaptor-related protein complex 5, mu 1 subunit	120					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex											GTCCCCTCGTCCGCCACTAAT	0.408000													14	19					0	0	0.020292	0	0
MACC1	346389	broad.mit.edu	37	7	20198857	20198857	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr7:20198857C>T	ENST00000400331.5	-	5	1435	c.1127G>A	c.(1126-1128)gGa>gAa	p.G376E	MACC1_ENST00000589011.1_Missense_Mutation_p.G376E|MACC1_ENST00000332878.4_Missense_Mutation_p.G376E	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	376					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						ATATTTGGGTCCATAAATTCC	0.398000													36	3					0	0	0.064281	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47348955	47348955	+	RNA	SNP	T	T	G			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr1:47348955T>G	ENST00000505841.1	-	0	508					NR_002788.2																						GGCAATGTGTTCCTCCCATTT	0.463000													10	19					0	0	0.049695	0	0
LILRA4	23547	broad.mit.edu	37	19	54848889	54848889	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr19:54848889C>T	ENST00000291759.4	-	5	790	c.734G>A	c.(733-735)gGc>gAc	p.G245D		NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	245	Ig-like C2-type 3.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		GACATCAGAGCCACACTGGAG	0.662000													12	13					0	0	0.020292	0	0
SYCP1	6847	broad.mit.edu	37	1	115401288	115401288	+	Silent	SNP	A	A	C			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr1:115401288A>C	ENST00000369522.3	+	6	652	c.412A>C	c.(412-414)Aga>Cga	p.R138R	SYCP1_ENST00000369518.1_Silent_p.R138R	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	138					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)		GCAAGAAAACAGAAAGATAAT	0.323000													22	31					0	0	0.083992	0	0
P2RX7	5027	broad.mit.edu	37	12	121622599	121622599	+	Silent	SNP	T	T	C			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr12:121622599T>C	ENST00000328963.5	+	12	1726	c.1272T>C	c.(1270-1272)ccT>ccC	p.P424P	P2RX7_ENST00000443520.3_3'UTR|P2RX7_ENST00000535250.1_Silent_p.P504P|P2RX7_ENST00000541446.1_Silent_p.P305P|P2RX7_ENST00000546057.1_Silent_p.P594P			A8K2Z0	A8K2Z0_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 7	594						integral to membrane	ATP binding|ion channel activity|receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCAAGAGTCCTTACTGAAgcc	0.602000													16	16					0	0	0.024245	0	0
PLCB1	23236	broad.mit.edu	37	20	8678380	8678380	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr20:8678380G>A	ENST00000378641.3	+	11	1592	c.1117G>A	c.(1117-1119)Gaa>Aaa	p.E373K	PLCB1_ENST00000378637.2_Missense_Mutation_p.E373K|PLCB1_ENST00000338037.6_Missense_Mutation_p.E373K	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	373	PI-PLC X-box.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TGCAGAAGAGGAACCTGTCAT	0.498000													79	37					0	0	0.048971	0	0
MYT1	4661	broad.mit.edu	37	20	62848520	62848520	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr20:62848520G>A	ENST00000536311.1	+	11	2096	c.1732G>A	c.(1732-1734)Gag>Aag	p.E578K	MYT1_ENST00000360149.4_Missense_Mutation_p.E280K|MYT1_ENST00000328439.1_Missense_Mutation_p.E578K			Q01538	MYT1_HUMAN	myelin transcription factor 1	578					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CAAGGAGCTGGAGAAGTTCTC	0.577000													16	82					0	0	0.033300	0	0
CSMD3	114788	broad.mit.edu	37	8	113585876	113585876	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr8:113585876C>T	ENST00000297405.5	-	24	4140	c.3896G>A	c.(3895-3897)gGa>gAa	p.G1299E	CSMD3_ENST00000343508.3_Missense_Mutation_p.G1259E|CSMD3_ENST00000455883.2_Missense_Mutation_p.G1195E|CSMD3_ENST00000352409.3_Missense_Mutation_p.G1299E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1299	CUB 7.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTTATCTTTTCCATCATAAAT	0.308000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			9	61					0	0	0.047766	0	0
SORL1	6653	broad.mit.edu	37	11	121495832	121495832	+	Silent	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr11:121495832C>T	ENST00000260197.7	+	46	6339	c.6210C>T	c.(6208-6210)atC>atT	p.I2070I	SORL1_ENST00000525532.1_Silent_p.I1014I|SORL1_ENST00000534286.1_Silent_p.I980I|SORL1_ENST00000527934.1_Silent_p.I685I|SORL1_ENST00000532694.1_Silent_p.I916I	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	2070	Fibronectin type-III 6.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CCATGAATATCACAGCTTACC	0.393000													30	61					0	0	0.037714	0	0
SLC7A8	23428	broad.mit.edu	37	14	23634537	23634537	+	Silent	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr14:23634537G>A	ENST00000316902.7	-	3	1190	c.465C>T	c.(463-465)ttC>ttT	p.F155F	SLC7A8_ENST00000469263.1_Silent_p.F155F	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	155					blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	ACTCTGGGGGGAAGCAGGTGG	0.532000													13	15					0	0	0.020292	0	0
DROSHA	29102	broad.mit.edu	37	5	31466354	31466354	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr5:31466354G>A	ENST00000511367.2	-	18	2645	c.2401C>T	c.(2401-2403)Cgc>Tgc	p.R801C	DROSHA_ENST00000513349.1_Missense_Mutation_p.R764C|DROSHA_ENST00000442743.1_Missense_Mutation_p.R764C|DROSHA_ENST00000344624.3_Missense_Mutation_p.R801C	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	801	Necessary for interaction with DGCR8 and pri-miRNA processing activity.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						AGGAGGTGGCGAAGTTTCACA	0.428000													16	20					0	0	0.033300	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77331198	77331198	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr16:77331198G>A	ENST00000282849.5	-	18	3207	c.2789C>T	c.(2788-2790)tCc>tTc	p.S930F		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	930					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						AGCCGGGCAGGAGAAAGCGTT	0.403000													15	25					0	0	0.024245	0	0
COLEC10	10584	broad.mit.edu	37	8	120118181	120118181	+	Silent	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr8:120118181C>T	ENST00000332843.2	+	6	626	c.585C>T	c.(583-585)atC>atT	p.I195I		NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 (C-type lectin)	195	C-type lectin.					collagen|cytoplasm	mannose binding	p.I195M(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			ACACACTCATCGCTGACTATG	0.517000													97	22					0	0	0.048971	0	0
ZNF135	7694	broad.mit.edu	37	19	58579245	58579245	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr19:58579245C>T	ENST00000506786.1	+	5	1821	c.1267C>T	c.(1267-1269)Ccc>Tcc	p.P423S	ZNF135_ENST00000439855.2_Missense_Mutation_p.P465S|ZNF135_ENST00000511556.1_Missense_Mutation_p.P477S|ZNF135_ENST00000401053.4_Missense_Mutation_p.P489S|ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000313434.5_Missense_Mutation_p.P465S			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	477					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		AGGAGAGAAGCCCTATGAGTG	0.557000													12	17					0	0	0.080935	0	0
GP9	2815	broad.mit.edu	37	3	128780670	128780670	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr3:128780670G>A	ENST00000307395.4	+	3	310	c.88G>A	c.(88-90)Gaa>Aaa	p.E30K		NM_000174.3	NP_000165.1	P14770	GPIX_HUMAN	glycoprotein IX (platelet)	30	LRRNT.				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane	protein binding			NS(1)|central_nervous_system(1)|lung(4)	6					Quinine(DB00468)	CCGCGCCCTGGAAACCATGGG	0.701000													8	3					0	0	0.047766	0	0
C1orf65	164127	broad.mit.edu	37	1	223567524	223567524	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr1:223567524G>A	ENST00000366875.3	+	1	810	c.707G>A	c.(706-708)cGg>cAg	p.R236Q		NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN	chromosome 1 open reading frame 65	236										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		AAAGAGATGCGGAGCCCGCAC	0.622000													3	32					0	0	0.004672	0	0
TAOK1	57551	broad.mit.edu	37	17	27844580	27844580	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr17:27844580G>C	ENST00000261716.3	+	16	2333	c.1814G>C	c.(1813-1815)cGa>cCa	p.R605P	TAOK1_ENST00000536202.1_Intron	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	605					mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			AACCTTCTTCGACGTCAAAGA	0.443000													31	73					0	0	0.050027	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200822531	200822531	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr1:200822531G>A	ENST00000358823.2	+	13	4001	c.3731G>A	c.(3730-3732)cGt>cAt	p.R1244H	CAMSAP2_ENST00000413307.2_Missense_Mutation_p.R1228H|CAMSAP2_ENST00000236925.4_Missense_Mutation_p.R1255H	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	1255						cytoplasm|microtubule	protein binding										ATTAAACCCCGTCCTCAAGTA	0.373000													18	15					0	0	0.043863	0	0
SCN10A	6336	broad.mit.edu	37	3	38768437	38768437	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr3:38768437C>T	ENST00000449082.2	-	16	2746	c.2747G>A	c.(2746-2748)cGg>cAg	p.R916Q		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	916			R -> W (found in a renal cell carcinoma sample; somatic mutation).		sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GACCTGGATCCGTGCCAGGGC	0.587000													83	16					0	0	0.048971	0	0
ACSS3	79611	broad.mit.edu	37	12	81627142	81627142	+	Silent	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr12:81627142C>T	ENST00000548058.1	+	13	2521	c.1611C>T	c.(1609-1611)acC>acT	p.T537T	ACSS3_ENST00000548324.1_Silent_p.T219T|ACSS3_ENST00000261206.3_Silent_p.T536T			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	537						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						ATTATGATACCATGGATGCTG	0.338000													19	39					0	0	0.055883	0	0
SVEP1	79987	broad.mit.edu	37	9	113238532	113238532	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr9:113238532T>C	ENST00000401783.2	-	14	2887	c.2551A>G	c.(2551-2553)Aaa>Gaa	p.K851E	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.K828E|SVEP1_ENST00000374461.1_Missense_Mutation_p.K828E|SVEP1_ENST00000302728.8_Missense_Mutation_p.K851E	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	851					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AGGCAATATTTTTTGGTCAGG	0.363000													31	35					0	0	0.059317	0	0
P4HA1	5033	broad.mit.edu	37	10	74769646	74769646	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr10:74769646A>G	ENST00000412021.2	-	15	1786	c.1453T>C	c.(1453-1455)Tgg>Cgg	p.W485R	P4HA1_ENST00000440381.1_Missense_Mutation_p.W467R|P4HA1_ENST00000263556.3_Missense_Mutation_p.W485R|P4HA1_ENST00000394890.2_Missense_Mutation_p.W485R|P4HA1_ENST00000307116.2_Missense_Mutation_p.W485R|P4HA1_ENST00000373008.2_Missense_Mutation_p.W485R	NM_001142595.1	NP_001136067.1	P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	485	Fe2OG dioxygenase.					endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	AGATTATACCAGAAAACAGCA	0.373000													30	2					0	0	0.045705	0	0
UTP14C	9724	broad.mit.edu	37	13	52604668	52604668	+	Silent	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr13:52604668C>T	ENST00000521776.2	+	2	2461	c.1728C>T	c.(1726-1728)ccC>ccT	p.P576P		NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	576					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		TGGCAGTTCCCACAATAATAG	0.473000													15	37					0	0	0.024245	0	0
DNAH5	1767	broad.mit.edu	37	5	13735985	13735985	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr5:13735985C>T	ENST00000265104.4	-	67	11616	c.11512G>A	c.(11512-11514)Gag>Aag	p.E3838K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3838					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)					TGATACATCTCATTAACCAAG	0.488000									Kartagener syndrome				29	41					0	0	0.050027	0	0
ZNF30	90075	broad.mit.edu	37	19	35434150	35434150	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr19:35434150A>G	ENST00000439785.1	+	5	727	c.283A>G	c.(283-285)Atc>Gtc	p.I95V	ZNF30_ENST00000426813.2_Missense_Mutation_p.I13V|ZNF30_ENST00000601957.1_3'UTR|ZNF30_ENST00000601142.1_Missense_Mutation_p.I94V|ZNF30_ENST00000303586.7_Missense_Mutation_p.I95V	NM_001099438.1	NP_001092908.1	P17039	ZNF30_HUMAN	zinc finger protein 30	94					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		AGATGATACAATCGGCTGTAA	0.313000													3	3					0	0	0.004672	0	0
NPC1L1	29881	broad.mit.edu	37	7	44579241	44579241	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr7:44579241G>A	ENST00000289547.4	-	2	810	c.755C>T	c.(754-756)gCg>gTg	p.A252V	NPC1L1_ENST00000381160.3_Missense_Mutation_p.A252V|NPC1L1_ENST00000546276.1_Missense_Mutation_p.A252V|NPC1L1_ENST00000423141.1_Missense_Mutation_p.A252V	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	252					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GGAGCAGGTCGCCACGTCGTC	0.637000													95	8					0	0	0.048971	0	0
DNAH5	1767	broad.mit.edu	37	5	13920716	13920716	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr5:13920716C>T	ENST00000265104.4	-	6	775	c.671G>A	c.(670-672)cGa>cAa	p.R224Q		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	224	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R224Q(2)		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)					GTCACACTTTCGAAGGTTCAC	0.393000									Kartagener syndrome				14	23					0	0	0.024245	0	0
USP9Y	8287	broad.mit.edu	37	Y	14968653	14968653	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chrY:14968653T>G	ENST00000338981.3	+	44	8262	c.7317T>G	c.(7315-7317)agT>agG	p.S2439R	USP9Y_ENST00000426564.2_3'UTR	NM_004654.3	NP_004645.2	O00507	USP9Y_HUMAN	ubiquitin specific peptidase 9, Y-linked	2439					BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CTCAGTATAGTTACAACAATT	0.398000													20	0					0	0	0.043863	0	0
SEZ6L	23544	broad.mit.edu	37	22	26747088	26747088	+	Silent	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr22:26747088G>A	ENST00000529632.2	+	12	2674	c.2478G>A	c.(2476-2478)gtG>gtA	p.V826V	SEZ6L_ENST00000248933.6_Silent_p.V826V|SEZ6L_ENST00000343706.4_Silent_p.V826V|SEZ6L_ENST00000403121.1_Silent_p.V599V|SEZ6L_ENST00000404234.3_Silent_p.V826V|SEZ6L_ENST00000402979.1_Silent_p.V599V|SEZ6L_ENST00000360929.3_Intron|SEZ6L_ENST00000411842.2_Silent_p.V23V	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	826	Sushi 4.					endoplasmic reticulum membrane|integral to membrane		p.V826V(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TGCTGCTGGTGGGGACCACCA	0.552000													27	32					0	0	0.030593	0	0
OTX2	5015	broad.mit.edu	37	14	57268780	57268780	+	Silent	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr14:57268780C>T	ENST00000339475.5	-	5	843	c.567G>A	c.(565-567)caG>caA	p.Q189Q	OTX2_ENST00000554559.1_3'UTR|OTX2_ENST00000408990.3_Silent_p.Q181Q|OTX2_ENST00000555006.1_Silent_p.Q181Q|OTX2_ENST00000554788.1_3'UTR	NM_001270523.1|NM_001270524.1|NM_001270525.1|NM_021728.3	NP_001257452.1|NP_001257453.1|NP_001257454.1|NP_068374.1	P32243	OTX2_HUMAN	orthodenticle homeobox 2	181					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					AACCTGAAGCCTGAGTATAGG	0.522000													20	45					0	0	0.062417	0	0
ELFN2	114794	broad.mit.edu	37	22	37769278	37769278	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr22:37769278G>A	ENST00000402918.1	-	3	3082	c.2297C>T	c.(2296-2298)aCg>aTg	p.T766M	ELFN2_ENST00000349653.3_Missense_Mutation_p.T766M|RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	766						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					GATCTTGTGCGTGCTCTCGGA	0.637000													18	32					0	0	0.038395	0	0
OR4F6	390648	broad.mit.edu	37	15	102346044	102346044	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr15:102346044G>A	ENST00000328882.4	+	1	143	c.122G>A	c.(121-123)gGa>gAa	p.G41E		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	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)			AGCCTGATGGGAAATCTCCTC	0.483000													68	93					0	0	0.048971	0	0
SLC4A8	9498	broad.mit.edu	37	12	51847481	51847481	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr12:51847481C>T	ENST00000453097.2	+	5	789	c.572C>T	c.(571-573)tCa>tTa	p.S191L	SLC4A8_ENST00000535225.2_Missense_Mutation_p.S138L|SLC4A8_ENST00000514353.3_Missense_Mutation_p.S138L|SLC4A8_ENST00000394856.1_Missense_Mutation_p.S138L|SLC4A8_ENST00000358657.3_Missense_Mutation_p.S218L	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	191					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		GAAGAAATTTCAGGTAAGGTT	0.423000													10	14					0	0	0.069234	0	0
ARL3	403	broad.mit.edu	37	10	104459233	104459233	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr10:104459233T>C	ENST00000260746.5	-	3	292	c.161A>G	c.(160-162)aAa>aGa	p.K54R		NM_004311.3	NP_004302.1	P36405	ARL3_HUMAN	ADP-ribosylation factor-like 3	54					cell cycle|cytokinesis|small GTPase mediated signal transduction	centrosome|cytoplasmic microtubule|Golgi membrane|midbody|nucleus|photoreceptor connecting cilium|spindle microtubule	GDP binding|GTP binding|metal ion binding|microtubule binding			large_intestine(2)	2		Colorectal(252;0.122)		Epithelial(162;4.88e-09)|all cancers(201;1.29e-07)|BRCA - Breast invasive adenocarcinoma(275;0.22)		TTGTACACTTTTGATGTTGAA	0.308000													13	4					0	0	0.024245	0	0
AK7	122481	broad.mit.edu	37	14	96953376	96953376	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr14:96953376G>A	ENST00000267584.4	+	17	2160	c.2116G>A	c.(2116-2118)Gac>Aac	p.D706N		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	706	DPY-30.				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		CCGACCCGAAGACCCTGTTGA	0.428000													9	18					0	0	0.080935	0	0
CSMD3	114788	broad.mit.edu	37	8	113246697	113246697	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr8:113246697T>C	ENST00000297405.5	-	68	10881	c.10637A>G	c.(10636-10638)aAa>aGa	p.K3546R	CSMD3_ENST00000343508.3_Missense_Mutation_p.K3506R|CSMD3_ENST00000455883.2_Missense_Mutation_p.K3377R|CSMD3_ENST00000352409.3_Missense_Mutation_p.K3476R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3546						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTCCTGGCTTTTATATACCCC	0.323000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			49	149					0	0	0.048971	0	0
DSPP	1834	broad.mit.edu	37	4	88534195	88534195	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr4:88534195G>A	ENST00000399271.1	+	4	977	c.857G>A	c.(856-858)gGg>gAg	p.G286E	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000282478.7_Missense_Mutation_p.G286E	NM_014208.3	NP_055023.2	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	286					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)		CAGGACCATGGGAAAGAAGAT	0.428000													11	24					0	0	0.093190	0	0
SYNE3	161176	broad.mit.edu	37	14	95932576	95932576	+	Splice_Site	SNP	G	G	C			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr14:95932576G>C	ENST00000334258.5	-	3	333	c.317_splice	c.e3-1	p.R107_splice	SYNE3_ENST00000557275.1_Splice_Site_p.R107_splice|SYNE3_ENST00000553340.1_Splice_Site_p.R107_splice	NM_152592.3	NP_689805.3			spectrin repeat containing, nuclear envelope family member 3											breast(1)|endometrium(2)|lung(25)	28						CACTCGATGCGGCTGTGGGCA	0.617000													18	31					0	0	0.043863	0	0
AHNAK2	113146	broad.mit.edu	37	14	105410204	105410204	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr14:105410204C>T	ENST00000333244.5	-	7	11703	c.11584G>A	c.(11584-11586)Gtc>Atc	p.V3862I	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3862						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CGAGCTTGGACCGTCAGGTCG	0.617000													55	85					0	0	0.048971	0	0
OR2Y1	134083	broad.mit.edu	37	5	180166799	180166799	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr5:180166799C>T	ENST00000307832.2	-	1	300	c.260G>A	c.(259-261)gGg>gAg	p.G87E		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|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)			GCGGTCCACCCCGCAAAGGTT	0.592000													9	30					0	0	0.058154	0	0
KRT34	3885	broad.mit.edu	37	17	39537367	39537367	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr17:39537367C>T	ENST00000394001.1	-	3	685	c.655G>A	c.(655-657)Gag>Aag	p.E219K		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	219	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				ACCTGGGACTCCAGGTCAGAC	0.537000													29	37					0	0	0.045705	0	0
ERCC6-PGBD3	101243544	broad.mit.edu	37	10	50724338	50724338	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr10:50724338G>A	ENST00000515869.1	-	6	2347	c.2227C>T	c.(2227-2229)Cct>Tct	p.P743S	PGBD3_ENST00000374127.3_Missense_Mutation_p.P275S|ERCC6_ENST00000355832.5_Intron|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.P743S|PGBD3_ENST00000603152.1_Missense_Mutation_p.P743S|PGBD3_ENST00000508005.2_Missense_Mutation_p.P275S	NM_001277059.1	NP_001263988.1																					CCAAAATAAGGAACCATGAAT	0.398000													16	4					0	0	0.024245	0	0
PCDHB15	56121	broad.mit.edu	37	5	140626406	140626406	+	Silent	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr5:140626406C>T	ENST00000231173.3	+	1	1260	c.1260C>T	c.(1258-1260)acC>acT	p.T420T		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		420	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAACATCACCATCACCATCA	0.512000													18	33					0	0	0.038395	0	0
PGR	5241	broad.mit.edu	37	11	100912815	100912815	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr11:100912815C>T	ENST00000325455.5	-	7	3960	c.2507G>A	c.(2506-2508)cGa>cAa	p.R836Q	PGR_ENST00000263463.5_Missense_Mutation_p.R734Q|PGR_ENST00000534013.1_Missense_Mutation_p.R242Q	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN	progesterone receptor	836	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.R836Q(1)		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)	GGTTTGACTTCGTAGCCCTTC	0.383000													14	16					0	0	0.038395	0	0
CSF2RA	1438	broad.mit.edu	37	X	1428361	1428361	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chrX:1428361G>A	ENST00000381524.3	+	13	1378	c.1192G>A	c.(1192-1194)Gaa>Aaa	p.E398K	CSF2RA_ENST00000381529.3_Missense_Mutation_p.E398K|CSF2RA_ENST00000432318.2_Missense_Mutation_p.E398K|CSF2RA_ENST00000361536.3_3'UTR|CSF2RA_ENST00000417535.2_Missense_Mutation_p.E432K|CSF2RA_ENST00000355432.3_Missense_Mutation_p.G338E|CSF2RA_ENST00000381500.1_3'UTR|CSF2RA_ENST00000355805.2_3'UTR|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000501036.2_Missense_Mutation_p.E265K			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	398						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GACCGTGAAGGAAATTACCTG	0.512000													99	75					0	0	0.048971	0	0
TTN	7273	broad.mit.edu	37	2	179659761	179659761	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr2:179659761C>T	ENST00000589042.1	-	7	1357	c.1133G>A	c.(1132-1134)gGg>gAg	p.G378E	TTN_ENST00000359218.5_Missense_Mutation_p.G378E|TTN_ENST00000460472.2_Missense_Mutation_p.G378E|TTN_ENST00000591111.1_Missense_Mutation_p.G378E|TTN_ENST00000342992.6_Missense_Mutation_p.G378E|TTN_ENST00000342175.6_Missense_Mutation_p.G378E|TTN_ENST00000360870.5_Missense_Mutation_p.G378E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	378							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)			ACCGTATCTCCCTTCCCATCT	0.577000													19	38					0	0	0.049695	0	0
POLR3A	11128	broad.mit.edu	37	10	79741291	79741291	+	Silent	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr10:79741291G>A	ENST00000372371.3	-	29	3923	c.3786C>T	c.(3784-3786)gcC>gcT	p.A1262A		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	1262					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			TTGTCCGGGCGGCCTCGATGC	0.552000													227	41					0	0	0.048971	0	0
DUOX2	50506	broad.mit.edu	37	15	45396251	45396251	+	Splice_Site	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr15:45396251C>T	ENST00000389039.6	-	20	2946	c.2560_splice	c.e20-1	p.G854_splice	DUOX2_ENST00000603300.1_Splice_Site_p.G854_splice			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	854	EF-hand 1.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CTCTGGGGAGCCTGGGAAGAA	0.512000													11	5					0	0	0.069234	0	0
BRWD3	254065	broad.mit.edu	37	X	79947391	79947391	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chrX:79947391A>C	ENST00000373275.4	-	30	3628	c.3412T>G	c.(3412-3414)Tgg>Ggg	p.W1138G	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1138										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TGAGCCCCCCACTCTCCTTCC	0.463000													13	1					0	0	0.020292	0	0
PAPD4	167153	broad.mit.edu	37	5	78915896	78915896	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr5:78915896C>T	ENST00000453514.1	+	3	910	c.217C>T	c.(217-219)Cga>Tga	p.R73*	PAPD4_ENST00000296783.3_Nonsense_Mutation_p.R73*|PAPD4_ENST00000423041.2_Nonsense_Mutation_p.R73*|PAPD4_ENST00000428308.2_Nonsense_Mutation_p.R73*|PAPD4_ENST00000504233.1_Nonsense_Mutation_p.R73*	NM_001114394.1	NP_001107866.1	Q6PIY7	GLD2_HUMAN	PAP associated domain containing 4	73					histone mRNA catabolic process|mRNA processing|RNA polyadenylation	cytoplasm	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity	p.R73*(1)		biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		CCCATTATTTCGAGGAAGGAA	0.338000													5	6					0	0	0.014758	0	0
FAT1	2195	broad.mit.edu	37	4	187535364	187535364	+	Silent	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr4:187535364G>A	ENST00000441802.2	-	12	9419	c.9210C>T	c.(9208-9210)ttC>ttT	p.F3070F		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3070	Cadherin 28.				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						GATTTAGTTTGAATTTTTCTG	0.373000										HNSCC(5;0.00058)			46	56					0	0	0.048971	0	0
MYH2	4620	broad.mit.edu	37	17	10441152	10441152	+	Splice_Site	SNP	A	A	G			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr17:10441152A>G	ENST00000245503.5	-	15	1801	c.1416_splice	c.e15-1	p.F473_splice	MYH2_ENST00000532183.1_Splice_Site_p.F473_splice|MYH2_ENST00000397183.2_Splice_Site_p.F473_splice|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	473	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AGGCTGTTGAACTAAATAAAT	0.358000													22	34					0	0	0.083992	0	0
ZNF772	400720	broad.mit.edu	37	19	57984993	57984993	+	Silent	SNP	A	A	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr19:57984993A>T	ENST00000343280.4	-	5	1379	c.1119T>A	c.(1117-1119)acT>acA	p.T373T	ZNF772_ENST00000425074.3_3'UTR|ZNF772_ENST00000600175.1_Intron|ZNF772_ENST00000601768.1_Intron|AC004076.9_ENST00000415705.3_Intron|AC004076.9_ENST00000596831.1_Intron|ZNF772_ENST00000356584.3_Silent_p.T332T|ZNF772_ENST00000427512.2_Silent_p.T261T	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN	zinc finger protein 772	373					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)		GCCTTTCTCCAGTATGGATAC	0.423000													28	47					0	0	0.045705	0	0
PKHD1	5314	broad.mit.edu	37	6	51918008	51918008	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr6:51918008C>T	ENST00000371117.3	-	21	2281	c.2006G>A	c.(2005-2007)cGt>cAt	p.R669H	PKHD1_ENST00000340994.4_Missense_Mutation_p.R669H	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	669					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CCCGAAGCAACGCACACAAGT	0.582000													6	9					0	0	0.021553	0	0
GRIK4	2900	broad.mit.edu	37	11	120776100	120776100	+	Silent	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr11:120776100C>T	ENST00000527524.2	+	13	1661	c.1374C>T	c.(1372-1374)atC>atT	p.I458I	GRIK4_ENST00000438375.2_Silent_p.I458I			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	458					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	TGGCAGAGATCCTCCGATTCA	0.572000													55	75					0	0	0.048971	0	0
PXDNL	137902	broad.mit.edu	37	8	52321481	52321481	+	Silent	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr8:52321481C>T	ENST00000356297.4	-	17	2803	c.2703G>A	c.(2701-2703)ggG>ggA	p.G901G	PXDNL_ENST00000543296.1_Silent_p.G901G	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	901					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)				GCTCCGAGCTCCCGTAAACGT	0.602000													115	17					0	0	0.048971	0	0
SLC25A26	115286	broad.mit.edu	37	3	66413327	66413327	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr3:66413327A>C	ENST00000354883.6	+	8	1270	c.542A>C	c.(541-543)cAg>cCg	p.Q181P	SLC25A26_ENST00000336733.5_Missense_Mutation_p.Q93P|SLC25A26_ENST00000536651.1_3'UTR|SLC25A26_ENST00000484768.1_Intron			Q70HW3	SAMC_HUMAN	solute carrier family 25 (S-adenosylmethionine carrier), member 26	181						integral to membrane|mitochondrial inner membrane|nucleus	S-adenosylmethionine transmembrane transporter activity			endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)|stomach(2)|urinary_tract(1)	8		Lung NSC(201;0.00774)		BRCA - Breast invasive adenocarcinoma(55;0.00046)|KIRC - Kidney renal clear cell carcinoma(15;0.0515)|Kidney(15;0.0648)		GATTCTTGGCAGTCAGCAGTC	0.393000													4	5					0	0	0.021553	0	0
ADAMTSL4	54507	broad.mit.edu	37	1	150526312	150526312	+	Missense_Mutation	SNP	G	G	A	rs150503018		TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr1:150526312G>A	ENST00000271643.4	+	6	1081	c.845G>A	c.(844-846)cGa>cAa	p.R282Q	RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.R282Q|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.R282Q|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.R282Q	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	282					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CCTCAGCCACGAAGGCCAAGT	0.662000													7	22					0	0	0.029380	0	0
ZWILCH	55055	broad.mit.edu	37	15	66829534	66829534	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr15:66829534C>T	ENST00000307897.5	+	16	1887	c.1507C>T	c.(1507-1509)Cct>Tct	p.P503S	ZWILCH_ENST00000535141.2_Missense_Mutation_p.P389S|ZWILCH_ENST00000446801.2_Missense_Mutation_p.P389S|ZWILCH_ENST00000565627.1_Missense_Mutation_p.P389S	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN	zwilch kinetochore protein	503					cell division|mitotic cell cycle checkpoint|mitotic prometaphase	condensed chromosome kinetochore|cytosol	protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						CAAACAAAATCCTCTTGATGA	0.368000													6	18					0	0	0.021553	0	0
BCAS1	8537	broad.mit.edu	37	20	52570090	52570090	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr20:52570090C>T	ENST00000395961.3	-	11	1727	c.1561G>A	c.(1561-1563)Gaa>Aaa	p.E521K	BCAS1_ENST00000371440.3_Missense_Mutation_p.E530K|BCAS1_ENST00000371435.2_Missense_Mutation_p.E443K|BCAS1_ENST00000434986.2_Missense_Mutation_p.E187K	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	521						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			TGGGCTGGTTCTTTGGCTTCC	0.557000													78	43					0	0	0.048971	0	0
DNAH5	1767	broad.mit.edu	37	5	13717540	13717540	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr5:13717540C>T	ENST00000265104.4	-	73	12693	c.12589G>A	c.(12589-12591)Gag>Aag	p.E4197K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4197	AAA 6 (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)					TTGCGCCTCTCCTGGACAGTG	0.552000									Kartagener syndrome				15	11					0	0	0.028581	0	0
NUP37	79023	broad.mit.edu	37	12	102512251	102512251	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr12:102512251C>G	ENST00000552283.1	-	2	185	c.46G>C	c.(46-48)Gaa>Caa	p.E16Q	NUP37_ENST00000543021.1_5'UTR|NUP37_ENST00000251074.1_Missense_Mutation_p.E16Q			Q8NFH4	NUP37_HUMAN	nucleoporin 37kDa	16					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding			endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						ACATAATCTTCACAATCCACA	0.388000													30	38					0	0	0.045705	0	0
CTNND2	1501	broad.mit.edu	37	5	11082825	11082825	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr5:11082825C>T	ENST00000304623.8	-	16	2960	c.2771G>A	c.(2770-2772)aGa>aAa	p.R924K	CTNND2_ENST00000359640.2_Missense_Mutation_p.R866K|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Missense_Mutation_p.R491K|CTNND2_ENST00000511377.1_Missense_Mutation_p.R833K|CTNND2_ENST00000503622.1_Missense_Mutation_p.R587K	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	924					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						CTCCTTATTTCTGACGTCCAA	0.522000													32	60					0	0	0.080422	0	0
BRDT	676	broad.mit.edu	37	1	92428328	92428328	+	Missense_Mutation	SNP	G	G	A	rs56273490		TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr1:92428328G>A	ENST00000362005.3	+	3	435	c.17G>A	c.(16-18)cGa>cAa	p.R6Q	BRDT_ENST00000402388.1_Missense_Mutation_p.R6Q|BRDT_ENST00000370389.2_Intron|BRDT_ENST00000394530.3_Missense_Mutation_p.R6Q|BRDT_ENST00000399546.2_Missense_Mutation_p.R6Q	NM_001242805.1	NP_001229734.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	6			R -> Q (in dbSNP:rs56273490).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		CTGCCAAGTCGACAAACAGCT	0.358000													12	17					0	0	0.093190	0	0
RNF141	50862	broad.mit.edu	37	11	10546787	10546787	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr11:10546787T>C	ENST00000265981.2	-	4	528	c.386A>G	c.(385-387)gAa>gGa	p.E129G	RNF141_ENST00000528665.1_Missense_Mutation_p.E129G	NM_016422.3	NP_057506.2	Q8WVD5	RN141_HUMAN	ring finger protein 141	129							zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9				all cancers(16;4.63e-08)|Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.064)		GGATGAGTTTTCATCAGGTTC	0.358000													22	27					0	0	0.069288	0	0
CGNL1	84952	broad.mit.edu	37	15	57820972	57820972	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr15:57820972C>T	ENST00000281282.5	+	13	3238	c.3160C>T	c.(3160-3162)Cac>Tac	p.H1054Y	CTD-2515H24.4_ENST00000566990.1_lincRNA	NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	1054						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)		AGCCAAGAGTCACCTCAAAGA	0.582000													13	23					0	0	0.105934	0	0
FABP9	646480	broad.mit.edu	37	8	82370842	82370842	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr8:82370842C>T	ENST00000379071.2	-	3	398	c.343G>A	c.(343-345)Gta>Ata	p.V115I	RP11-157I4.4_ENST00000524085.2_RNA	NM_001080526.1	NP_001073995.1	Q0Z7S8	FABP9_HUMAN	fatty acid binding protein 9, testis	115							lipid binding|transporter activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6			Epithelial(68;0.186)			CTTACCACTACCATTTTTTCA	0.323000													77	17					0	0	0.048971	0	0
COL3A1	1281	broad.mit.edu	37	2	189870969	189870969	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr2:189870969G>A	ENST00000304636.3	+	42	3247	c.3077G>A	c.(3076-3078)gGa>gAa	p.G1026E	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1026	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GGCCGAGATGGATCTCCTGGT	0.353000													16	30					0	0	0.043863	0	0
KIAA1199	57214	broad.mit.edu	37	15	81214441	81214441	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr15:81214441G>A	ENST00000394685.3	+	17	2584	c.2165G>A	c.(2164-2166)gGa>gAa	p.G722E	KIAA1199_ENST00000220244.3_Missense_Mutation_p.G722E|KIAA1199_ENST00000356249.5_Missense_Mutation_p.G722E|RP11-351M8.2_ENST00000560873.1_RNA			Q8WUJ3	K1199_HUMAN	KIAA1199	722										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						ATTCCACTGGGAAAATTCTAT	0.532000													33	35					0	0	0.059317	0	0
MAN2B2	23324	broad.mit.edu	37	4	6611572	6611572	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr4:6611572C>T	ENST00000285599.3	+	13	2090	c.2054C>T	c.(2053-2055)aCc>aTc	p.T685I	MAN2B2_ENST00000504960.1_3'UTR|MAN2B2_ENST00000504248.1_Missense_Mutation_p.T634I	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	685					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						TCCCGGCTCACCCATGTGCCG	0.592000													19	27					0	0	0.049695	0	0
IGHA2	3494	broad.mit.edu	37	14	106054663	106054663	+	RNA	SNP	C	C	T	rs116634885	by1000genomes	TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr14:106054663C>T	ENST00000390539.2	-	0	69																											AGGCATGCGACGACCACGTTC	0.632000													5	92					0	0	0.021553	0	0
CDH18	1016	broad.mit.edu	37	5	19520786	19520786	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr5:19520786C>T	ENST00000507958.1	-	12	2482	c.1492G>A	c.(1492-1494)Gaa>Aaa	p.E498K	CDH18_ENST00000274170.4_Missense_Mutation_p.E498K|CDH18_ENST00000382275.1_Missense_Mutation_p.E498K|CDH18_ENST00000506372.1_Missense_Mutation_p.E498K|CDH18_ENST00000502796.1_Missense_Mutation_p.E498K|CDH18_ENST00000511273.1_Missense_Mutation_p.E498K			Q13634	CAD18_HUMAN	cadherin 18, type 2	498	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TTAGAATTTTCACATACAATA	0.373000													13	10					0	0	0.105934	0	0
COL4A6	1288	broad.mit.edu	37	X	107407869	107407869	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chrX:107407869G>A	ENST00000394872.2	-	40	4264	c.4033C>T	c.(4033-4035)Cca>Tca	p.P1345S	COL4A6_ENST00000372216.4_Missense_Mutation_p.P1345S|COL4A6_ENST00000538570.1_Intron|COL4A6_ENST00000545689.1_Missense_Mutation_p.P1320S|COL4A6_ENST00000334504.7_Missense_Mutation_p.P1344S			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1345	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						GGAAATCCTGGGTCTCCAGGT	0.597000									Alport syndrome with Diffuse Leiomyomatosis				66	4					0	0	0.048971	0	0
FRMPD4	9758	broad.mit.edu	37	X	12627935	12627935	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chrX:12627935C>T	ENST00000380682.1	+	3	760	c.254C>T	c.(253-255)cCc>cTc	p.P85L		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	85	PDZ.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AGAAGGGACCCCGTGCTGGGA	0.547000													38	4					0	0	0.111260	0	0
ATP13A1	57130	broad.mit.edu	37	19	19766392	19766392	+	Silent	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr19:19766392G>A	ENST00000357324.6	-	10	1367	c.1341C>T	c.(1339-1341)ttC>ttT	p.F447F	ATP13A1_ENST00000496082.1_5'UTR|ATP13A1_ENST00000291503.5_Silent_p.F329F	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	447					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GGAAGAGGATGAAGATGAAGG	0.592000													13	19					0	0	0.105934	0	0
HPS6	79803	broad.mit.edu	37	10	103825888	103825888	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr10:103825888G>A	ENST00000299238.5	+	1	742	c.657G>A	c.(655-657)tgG>tgA	p.W219*		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	219						cytosol|early endosome membrane|endoplasmic reticulum|microsome				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		TACTCATCTGGAGCCCAGGCA	0.622000									Hermansky-Pudlak syndrome				68	15					0	0	0.048971	0	0
LUM	4060	broad.mit.edu	37	12	91502198	91502198	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr12:91502198C>T	ENST00000266718.4	-	2	1013	c.559G>A	c.(559-561)Gaa>Aaa	p.E187K	LUM_ENST00000548071.1_Intron	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	187					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						TCAAGGTATTCGAGTGATTTA	0.428000													26	28					0	0	0.108266	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814408	106814408	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr8:106814408G>A	ENST00000407775.2	+	8	2348	c.2098G>A	c.(2098-2100)Gaa>Aaa	p.E700K	RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.E431K|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000517361.1_Missense_Mutation_p.E568K|ZFPM2_ENST00000520492.1_Missense_Mutation_p.E568K|RP11-152P17.2_ENST00000520433.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	700					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CAGCCGGCACGAAACATACAT	0.488000													16	74					0	0	0.038395	0	0
SALL1	6299	broad.mit.edu	37	16	51175273	51175273	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr16:51175273G>A	ENST00000440970.1	-	2	1000	c.569C>T	c.(568-570)tCc>tTc	p.S190F	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.S287F	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	287					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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)			AGATAAATGGGAACTTAGCGT	0.507000													34	61					0	0	0.054565	0	0
PRB3	5544	broad.mit.edu	37	12	11420962	11420962	+	RNA	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr12:11420962C>T	ENST00000381842.3	-	0	258				PRB3_ENST00000440870.3_RNA|PRB3_ENST00000538488.1_RNA|PRB3_ENST00000279573.6_RNA	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3							extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			CTTTCCTGGACGAGGTGGGGG	0.622000													76	249					0	0	0.048971	0	0
SYT13	57586	broad.mit.edu	37	11	45274136	45274136	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr11:45274136G>A	ENST00000020926.3	-	4	793	c.682C>T	c.(682-684)Ccc>Tcc	p.P228S		NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	228	C2 1.					transport vesicle		p.P228T(1)		breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						TCCGCCAGGGGGAGCACCAGG	0.682000											OREG0020928	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	51					0	0	0.076483	0	0
AC010731.4	0	broad.mit.edu	37	2	207513416	207513416	+	RNA	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr2:207513416C>T	ENST00000543490.1	+	0	619																											GGACCTCCTTCCTAAAGAAGA	0.353000													3	1					0	0	0.009096	0	0
TIE1	7075	broad.mit.edu	37	1	43783566	43783566	+	Silent	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr1:43783566C>T	ENST00000372476.3	+	17	2824	c.2745C>T	c.(2743-2745)atC>atT	p.I915I	TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Silent_p.I560I	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	915	Protein kinase.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ACTTGTATATCGCTATTGAAT	0.522000													155	187					0	0	0.048971	0	0
DNAH10	196385	broad.mit.edu	37	12	124323233	124323233	+	Silent	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr12:124323233C>T	ENST00000409039.3	+	28	4804	c.4779C>T	c.(4777-4779)atC>atT	p.I1593I		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1593	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.I185M(2)|p.I1593M(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGCACATGATCAAGGTCAGCC	0.557000													19	31					0	0	0.049695	0	0
MECOM	2122	broad.mit.edu	37	3	168819869	168819869	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr3:168819869C>T	ENST00000464456.1	-	9	3359	c.2159G>A	c.(2158-2160)gGa>gAa	p.G720E	MECOM_ENST00000264674.3_Missense_Mutation_p.G794E|MECOM_ENST00000494292.1_Missense_Mutation_p.G908E|MECOM_ENST00000460814.1_Missense_Mutation_p.G720E|MECOM_ENST00000433243.2_Missense_Mutation_p.G730E|MECOM_ENST00000472280.1_Missense_Mutation_p.G730E|MECOM_ENST00000392736.3_Missense_Mutation_p.G729E|MECOM_ENST00000468789.1_Missense_Mutation_p.G729E	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GCGCTCCTTTCCCTTCCGCAG	0.502000													11	6					0	0	0.080935	0	0
OR10T2	128360	broad.mit.edu	37	1	158368662	158368662	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr1:158368662C>T	ENST00000334438.1	-	1	594	c.595G>A	c.(595-597)Gct>Act	p.A199T		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					CTAAATAAAGCCAGCTCTTTC	0.448000													10	15					0	0	0.058154	0	0
CSRNP3	80034	broad.mit.edu	37	2	166451582	166451582	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr2:166451582G>A	ENST00000314499.7	+	4	383	c.7G>A	c.(7-9)Gga>Aga	p.G3R	CSRNP3_ENST00000342316.4_Missense_Mutation_p.G3R|CSRNP3_ENST00000409420.1_Missense_Mutation_p.G35R	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	3					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						AGCGATGAGTGGAATTTTAAA	0.478000													12	24					0	0	0.020292	0	0
IFNGR1	3459	broad.mit.edu	37	6	137524860	137524860	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr6:137524860C>T	ENST00000367735.2	-	6	699	c.524G>A	c.(523-525)aGa>aAa	p.R175K	IFNGR1_ENST00000367739.4_Intron|IFNGR1_ENST00000543628.1_Intron			P15260	INGR1_HUMAN	interferon gamma receptor 1	416					regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	TGCACAGCTTCTTTTAATCTG	0.323000													3	0					0	0	0.004672	0	0
GAS7	8522	broad.mit.edu	37	17	9820593	9820593	+	Silent	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr17:9820593G>A	ENST00000396115.1	-	14	1513	c.1203C>T	c.(1201-1203)gtC>gtT	p.V401V	GAS7_ENST00000323816.4_Silent_p.V397V|GAS7_ENST00000437099.2_Silent_p.V397V|GAS7_ENST00000580865.1_Silent_p.V321V|GAS7_ENST00000585266.1_Silent_p.V397V|GAS7_ENST00000432992.2_Silent_p.V461V|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000542249.1_Silent_p.V406V|GAS7_ENST00000579158.1_Silent_p.V413V|GAS7_ENST00000540214.1_Silent_p.V166V	NM_201432.1	NP_958836.1	O60861	GAS7_HUMAN	growth arrest-specific 7	461					cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						TGTGCTCTCTGACCCACAGCT	0.607000			T	MLL	AML*								23	23					0	0	0.030593	0	0
THOC2	57187	broad.mit.edu	37	X	122755259	122755259	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chrX:122755259G>A	ENST00000245838.8	-	31	3996	c.3965C>T	c.(3964-3966)cCg>cTg	p.P1322L	THOC2_ENST00000491737.1_Missense_Mutation_p.P1207L|THOC2_ENST00000355725.4_Missense_Mutation_p.P1322L	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1322	Lys-rich.				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						GTCAGACTTCGGCGTTCTTTC	0.398000													40	6					0	0	0.104719	0	0
DCAF8L2	347442	broad.mit.edu	37	X	27765058	27765058	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chrX:27765058A>G	ENST00000451261.2	+	5	445	c.46A>G	c.(46-48)Act>Gct	p.T16A		NM_001136533.1	NP_001130005.1			DDB1 and CUL4 associated factor 8-like 2											central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						AGACTTAGGGACTGAAAGCCT	0.552000													3	0					0	0	0.004672	0	0
SF3B2	10992	broad.mit.edu	37	11	65824824	65824824	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr11:65824824C>T	ENST00000528302.1	+	6	758	c.704C>T	c.(703-705)cCc>cTc	p.P235L	SF3B2_ENST00000322535.6_Missense_Mutation_p.P252L			Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	252					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						CCCCCACCGCCCCCTGGAGAT	0.542000													51	49					0	0	0.048971	0	0
EXO1	9156	broad.mit.edu	37	1	242015641	242015641	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr1:242015641G>A	ENST00000366548.3	+	5	802	c.209G>A	c.(208-210)gGg>gAg	p.G70E	EXO1_ENST00000348581.5_Missense_Mutation_p.G70E|EXO1_ENST00000493702.1_Intron|EXO1_ENST00000518483.1_Missense_Mutation_p.G70E	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	70	N-domain.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			CTATCTCATGGGATCAAGCCT	0.308000								Editing and processing nucleases					34	41					0	0	0.054565	0	0
SYT1	6857	broad.mit.edu	37	12	79689957	79689957	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr12:79689957G>C	ENST00000261205.4	+	7	1240	c.583G>C	c.(583-585)Gag>Cag	p.E195Q	SYT1_ENST00000457153.2_Missense_Mutation_p.E192Q|SYT1_ENST00000552744.1_Missense_Mutation_p.E195Q|SYT1_ENST00000393240.3_Missense_Mutation_p.E195Q	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	195	C2 1.|Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						GAAGAAATTTGAGACAAAAGT	0.403000													18	24					0	0	0.043863	0	0
PCDHA9	9752	broad.mit.edu	37	5	140229659	140229659	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr5:140229659G>A	ENST00000378122.3	+	1	2303	c.1579G>A	c.(1579-1581)Gag>Aag	p.E527K	PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.E527K|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACCACGAGGAGCTGGAGCT	0.682000													51	88					0	0	0.048971	0	0
SERPINB12	89777	broad.mit.edu	37	18	61226939	61226939	+	Silent	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr18:61226939C>T	ENST00000382768.1	+	3	432	c.432C>T	c.(430-432)ttC>ttT	p.F144F	SERPINB12_ENST00000269491.1_Silent_p.F124F			Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	124					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						AGCAGGAATTCCCAATCTGTC	0.448000													15	26					0	0	0.028581	0	0
RNF112	7732	broad.mit.edu	37	17	19316290	19316290	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr17:19316290C>T	ENST00000461366.1	+	4	636	c.421C>T	c.(421-423)Cgc>Tgc	p.R141C	CTB-187M2.2_ENST00000579897.1_RNA|RNF112_ENST00000580109.1_Intron	NM_007148.4	NP_009079.2	Q7Z5V9	Q7Z5V9_HUMAN	ring finger protein 112	141							GTP binding|GTPase activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						GCTGCTGGTTCGCATCAATGC	0.647000													7	7					0	0	0.029380	0	0
DEFB115	245929	broad.mit.edu	37	20	29847381	29847381	+	Silent	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr20:29847381G>A	ENST00000400552.1	+	2	213	c.213G>A	c.(211-213)aaG>aaA	p.K71K		NM_001037730.1	NP_001032819.1	Q30KQ5	DB115_HUMAN	defensin, beta 115	71					defense response to bacterium	extracellular region				kidney(1)|lung(3)|ovary(1)|skin(1)	6			Colorectal(19;0.00445)|COAD - Colon adenocarcinoma(19;0.0347)			CTAAAGAAAAGGATAAACTAT	0.353000													11	30					0	0	0.080935	0	0
GPR158	57512	broad.mit.edu	37	10	25885644	25885644	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr10:25885644C>T	ENST00000376351.3	+	10	2430	c.2071C>T	c.(2071-2073)Cga>Tga	p.R691*	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	691						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AGACATGGGCCGATCTGGATC	0.443000													34	8					0	0	0.050027	0	0
TBX19	9095	broad.mit.edu	37	1	168282080	168282080	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr1:168282080C>T	ENST00000367821.3	+	8	1238	c.1187C>T	c.(1186-1188)tCc>tTc	p.S396F	TBX19_ENST00000465440.1_3'UTR	NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	396					anatomical structure morphogenesis	nucleus	DNA binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					TCTGTGCTCTCCACCCAAGCA	0.652000													21	22					0	0	0.055883	0	0
TECTA	7007	broad.mit.edu	37	11	120983847	120983847	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr11:120983847G>A	ENST00000392793.1	+	5	824	c.553G>A	c.(553-555)Gaa>Aaa	p.E185K	TECTA_ENST00000264037.2_Missense_Mutation_p.E185K			O75443	TECTA_HUMAN	tectorin alpha	185	NIDO.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		p.E185Q(2)	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)		CAATTATTACGAAATCAACTG	0.572000											OREG0021430	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	29					0	0	0.076483	0	0
SPINT2	10653	broad.mit.edu	37	19	38780919	38780919	+	Splice_Site	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr19:38780919C>T	ENST00000301244.7	+	5	987	c.553_splice	c.e5+1	p.F184_splice	SPINT2_ENST00000454580.3_Splice_Site_p.F127_splice|CTB-102L5.4_ENST00000591889.1_Splice_Site_p.S62_splice|SPINT2_ENST00000587090.1_Splice_Site_p.F134_splice	NM_021102.3	NP_066925.1	O43291	SPIT2_HUMAN	serine peptidase inhibitor, Kunitz type, 2	184					cellular component movement	cytoplasm|extracellular region|integral to membrane|soluble fraction	serine-type endopeptidase inhibitor activity			large_intestine(2)|lung(1)|ovary(1)	4	all_cancers(60;6.83e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TCCGCTGCTTCCGTAAGTCTG	0.562000													6	9					0	0	0.021553	0	0
DEPDC5	9681	broad.mit.edu	37	22	32215150	32215150	+	Silent	SNP	C	C	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr22:32215150C>A	ENST00000400246.1	+	22	1951	c.1809C>A	c.(1807-1809)ccC>ccA	p.P603P	DEPDC5_ENST00000382111.2_Silent_p.P603P|DEPDC5_ENST00000400248.1_Silent_p.P603P|DEPDC5_ENST00000400249.2_Silent_p.P603P|DEPDC5_ENST00000382105.2_Silent_p.P603P|DEPDC5_ENST00000266091.3_Silent_p.P603P|DEPDC5_ENST00000536766.1_Silent_p.P575P|DEPDC5_ENST00000535622.1_Silent_p.P603P|DEPDC5_ENST00000382112.3_Silent_p.P603P			O75140	DEPD5_HUMAN	DEP domain containing 5	603					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CCTTCGCTCCCTCTCGGATGC	0.547000													4	70					2.56e-06	2.62606e-06	0.009096	1	0
TMEM176A	55365	broad.mit.edu	37	7	150499311	150499311	+	Silent	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr7:150499311G>A	ENST00000484928.1	+	3	764	c.183G>A	c.(181-183)caG>caA	p.Q61Q	TMEM176A_ENST00000461345.1_Silent_p.Q2Q|TMEM176A_ENST00000004103.3_Silent_p.Q61Q			Q96HP8	T176A_HUMAN	transmembrane protein 176A	61						integral to membrane				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGTGATGCAGATCGTGCTGG	0.557000													84	11					0	0	0.048971	0	0
C10orf54	64115	broad.mit.edu	37	10	73512752	73512752	+	Silent	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr10:73512752C>T	ENST00000394957.3	-	5	742	c.684G>A	c.(682-684)caG>caA	p.Q228Q	CDH23_ENST00000224721.6_Intron	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN	chromosome 10 open reading frame 54	228						integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						GCACCAGCTCCTGGGCACCTA	0.582000													6	5					0	0	0.021553	0	0
ASH1L	55870	broad.mit.edu	37	1	155448752	155448752	+	Silent	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr1:155448752G>A	ENST00000368346.3	-	3	4548	c.3909C>T	c.(3907-3909)atC>atT	p.I1303I	ASH1L_ENST00000392403.3_Silent_p.I1303I			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1303					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TTCGATGAGTGATCCGAATTT	0.403000													17	26					0	0	0.033300	0	0
NLRP13	126204	broad.mit.edu	37	19	56443522	56443522	+	Silent	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr19:56443522G>A	ENST00000588751.1	-	1	180	c.156C>T	c.(154-156)ttC>ttT	p.F52F	NLRP13_ENST00000342929.3_Silent_p.F52F			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	52	DAPIN.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GGATACGCGGGAAGTGCCCCT	0.547000													22	37					0	0	0.076483	0	0
MTNR1A	4543	broad.mit.edu	37	4	187455465	187455465	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr4:187455465G>A	ENST00000307161.5	-	2	632	c.431C>T	c.(430-432)tCc>tTc	p.S144F	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	144					circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	GTAGCAGAGGGAGTTCTTGCT	0.572000													16	28					0	0	0.028581	0	0
POTEG	404785	broad.mit.edu	37	14	19553804	19553804	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr14:19553804G>A	ENST00000409832.3	+	1	440	c.388G>A	c.(388-390)Gag>Aag	p.E130K		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	130								p.E130*(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						CGCTTTCATGGAGCCGAGGTA	0.592000													28	392					0	0	0.111260	0	0
SLC8A1	6546	broad.mit.edu	37	2	40366764	40366764	+	Silent	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr2:40366764G>A	ENST00000406785.1	-	7	2403	c.2214C>T	c.(2212-2214)ttC>ttT	p.F738F	SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1_ENST00000403092.1_Silent_p.F774F|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000402441.1_Silent_p.F738F|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000332839.4_Silent_p.F774F|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000542756.1_Silent_p.F769F|SLC8A1_ENST00000542024.1_Silent_p.F738F|SLC8A1_ENST00000408028.2_Silent_p.F766F|SLC8A1_ENST00000406391.2_Silent_p.F738F|SLC8A1_ENST00000405901.3_Silent_p.F769F|SLC8A1_ENST00000405269.1_Silent_p.F738F|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	774					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)	TCACGTAATCGAAACAGGAGG	0.502000													23	47					0	0	0.099896	0	0
CSMD1	64478	broad.mit.edu	37	8	3265737	3265737	+	Silent	SNP	G	G	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr8:3265737G>A	ENST00000520002.1	-	15	2313	c.1758C>T	c.(1756-1758)ttC>ttT	p.F586F	CSMD1_ENST00000602723.1_Silent_p.F586F|CSMD1_ENST00000602557.1_Silent_p.F586F|CSMD1_ENST00000542608.1_Silent_p.F585F|CSMD1_ENST00000539096.1_Silent_p.F585F|CSMD1_ENST00000400186.3_Silent_p.F586F|CSMD1_ENST00000537824.1_Silent_p.F585F			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	586	CUB 4.					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)		TAAAGTTGAAGAAACATGAAA	0.388000													7	1					0	0	0.029380	0	0
CCER1	196477	broad.mit.edu	37	12	91348040	91348040	+	Silent	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr12:91348040C>T	ENST00000358859.2	-	1	913	c.480G>A	c.(478-480)cgG>cgA	p.R160R	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1			coiled-coil glutamate-rich protein 1																		CTGGCGGGCTCCGCGGGTAGG	0.697000													16	20					0	0	0.028581	0	0
PLD2	5338	broad.mit.edu	37	17	4725970	4725970	+	Silent	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr17:4725970C>T	ENST00000263088.6	+	25	2744	c.2613C>T	c.(2611-2613)tcC>tcT	p.S871S	PLD2_ENST00000572940.1_Silent_p.S860S	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	871					cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	CCACGCGTTCCCTGCGGACTC	0.647000													23	26					0	0	0.069288	0	0
DRC1	92749	broad.mit.edu	37	2	26677603	26677603	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr2:26677603C>T	ENST00000288710.2	+	15	2082	c.2008C>T	c.(2008-2010)Cct>Tct	p.P670S		NM_145038.2	NP_659475.2			dynein regulatory complex subunit 1 homolog (Chlamydomonas)																		CACAGTGATCCCTTCCTCCAA	0.597000													17	35					0	0	0.033300	0	0
SV2C	22987	broad.mit.edu	37	5	75621287	75621287	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr5:75621287C>T	ENST00000502798.2	+	13	2541	c.2099C>T	c.(2098-2100)cCc>cTc	p.P700L	SV2C_ENST00000322285.7_Intron	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	700					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		AAATCAATCCCCATCCTGCTG	0.517000													21	41					0	0	0.062417	0	0
SRGAP2B	647135	broad.mit.edu	37	1	144043905	144043906	+	RNA	INS	-	-	G			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr1:144043905_144043906insG	ENST00000467933.1	+	0	1108																											tcgctcacgctggagctgtaga	0.535													2	4	---	---	---	---					
KRT8P40	100418728	broad.mit.edu	37	2	178063145	178063168	+	RNA	DEL	TGGGCTCCAGCTTTGGCTCTGGCG	TGGGCTCCAGCTTTGGCTCTGGCG	-			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr2:178063145_178063168delTGGGCTCCAGCTTTGGCTCTGGCG	ENST00000455416.1	-	0	166																											AGCTACGGCCTGGGCTCCAGCTTTGGCTCTGGCGTGGGCTCCAG	0.598													5	6	---	---	---	---					
PTEN	5728	broad.mit.edu	37	10	89693002	89693003	+	Frame_Shift_Ins	INS	-	-	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr10:89693002_89693003insA	ENST00000371953.3	+	5	1843_1844	c.486_487insA	c.(484-489)gaaaaafs	p.EK162fs		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	162	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.K163*(2)|p.Y27fs*1(2)|p.F56fs*2(1)|p.D162fs*8(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGACCAGAGACAAAAAGGTAAG	0.351		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			26	11	---	---	---	---					
PNLIPRP2	5408	broad.mit.edu	37	10	118396277	118396277	+	RNA	DEL	G	G	-	rs148140777	by1000genomes	TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr10:118396277delG	ENST00000537242.1	+	0	962				PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		GACAAATTATGGTTTTTTTTT	0.423													2	4	---	---	---	---					
FOLH1B	219595	broad.mit.edu	37	11	89407177	89407177	+	RNA	DEL	C	C	-			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr11:89407177delC	ENST00000532352.1	+	0	1114							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TTTTTTTTTTCCCCAATCTGG	0.303													2	4	---	---	---	---					
DUSP6	1848	broad.mit.edu	37	12	89744592	89744593	+	Frame_Shift_Ins	INS	-	-	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr12:89744592_89744593insT	ENST00000279488.7	-	2	1841_1842	c.610_611insA	c.(610-612)ttcfs	p.F204fs	DUSP6_ENST00000308385.6_Intron|DUSP6_ENST00000547291.1_Frame_Shift_Ins_p.F79fs|DUSP6_ENST00000547140.1_5'UTR	NM_001946.2	NP_001937.2	Q16828	DUS6_HUMAN	dual specificity phosphatase 6	204					dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						TGGGAAGGAAGGCTGGCTGTTG	0.545													19	62	---	---	---	---					
SRP54	6729	broad.mit.edu	37	14	35497348	35497350	+	In_Frame_Del	DEL	AAA	AAA	-			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr14:35497348_35497350delAAA	ENST00000556994.1	+	16	1779_1781	c.1382_1384delAAA	c.(1381-1386)ctg>c	p.QM461del	SRP54_ENST00000555557.1_In_Frame_Del_p.QM397del|SRP54_ENST00000216774.6_In_Frame_Del_p.QM461del|SRP54_ENST00000546080.1_In_Frame_Del_p.QM412del			P61011	SRP54_HUMAN	signal recognition particle 54kDa	461	M-domain.				GTP catabolic process|response to drug|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation	cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|drug binding|endoplasmic reticulum signal peptide binding|GDP binding|GTP binding|nucleoside-triphosphatase activity|ribonucleoprotein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)		TTGAACCAACAAATGGCCAAAAT	0.389													20	37	---	---	---	---					
MAP1A	4130	broad.mit.edu	37	15	43820181	43820183	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr15:43820181_43820183delCTC	ENST00000382031.1	+	5	7255_7257	c.7224_7226delCTC	c.(7222-7227)ttc>tt	p.FS2408del	MAP1A_ENST00000300231.5_In_Frame_Del_p.FS2170del|MAP1A_ENST00000399453.1_In_Frame_Del_p.FS2170del			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2170						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CCTTTGGCTTCTCCTCATTGCAG	0.621													50	28	---	---	---	---					
TFIP11	24144	broad.mit.edu	37	22	26895102	26895103	+	Frame_Shift_Ins	INS	-	-	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr22:26895102_26895103insA	ENST00000407690.1	-	9	1579_1580	c.1296_1297insT	c.(1294-1299)ataggafs	p.G433fs	TFIP11_ENST00000407148.1_Frame_Shift_Ins_p.G433fs|TFIP11_ENST00000405938.1_Frame_Shift_Ins_p.G433fs|TFIP11_ENST00000407431.1_Frame_Shift_Ins_p.G433fs	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	433					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						AAGTACTCCTTCATGAGTGGAT	0.525													30	49	---	---	---	---					
TSPAN7	7102	broad.mit.edu	37	X	38533500	38533500	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chrX:38533500delA	ENST00000378482.2	+	4	548	c.371delA	c.(370-372)tcfs	p.Y124fs	TSPAN7_ENST00000488893.1_3'UTR|TSPAN7_ENST00000286824.6_Frame_Shift_Del_p.Y141fs|TM4SF2_ENST00000465127.1_Frame_Shift_Del_p.Y154fs|TSPAN7_ENST00000545599.1_Frame_Shift_Del_p.Y98fs|TSPAN7_ENST00000422612.2_Frame_Shift_Del_p.Y150fs	NM_004615.3	NP_004606.2	P41732	TSN7_HUMAN	tetraspanin 7	124					interspecies interaction between organisms	integral to plasma membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	11						CTGAGGACTTACACGGACGCT	0.512													2	4	---	---	---	---