Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
SLC44A4	80736	broad.mit.edu	37	6	31832678	31832678	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:31832678G>A	uc010jti.3	-	18	1907	c.1841C>T	c.(1840-1842)tCc>tTc	p.S614F	NEU1_uc003nxq.4_5'Flank|SLC44A4_uc011dol.2_Missense_Mutation_p.S538F|SLC44A4_uc011dom.2_Missense_Mutation_p.S572F	NM_025257	NP_079533	Q53GD3	CTL4_HUMAN	Homo sapiens solute carrier family 44, member 4 (SLC44A4), transcript variant 1, mRNA.	614						integral to membrane|plasma membrane	choline transmembrane transporter activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	AAAAAAGAAGGACAGGACCCC	0.567000														30			3		0	0	1	0	0
KLK8	11202	broad.mit.edu	37	19	51503514	51503514	+	Splice_Site	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:51503514C>T	uc002puq.1	-	4	552	c.366_splice	c.e4-1	p.P122_splice	KLK8_uc002pur.1_Splice_Site_p.P77_splice|KLK8_uc002pus.1_Intron|KLK8_uc002put.1_Intron|KLK8_uc002puu.1_Splice_Site_p.P77_splice|KLK8_uc002puv.1_Intron	NM_144505	NP_653088	O60259	KLK8_HUMAN	Homo sapiens kallikrein-related peptidase 8 (KLK8), transcript variant 2, mRNA.	77	Peptidase S1.				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		CTGTGTATTTCCTGTAATGGT	0.557000														142			40		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38954406	38954406	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:38954406G>A	uc002oit.3	+	21	2832	c.2702G>A	c.(2701-2703)aGg>aAg	p.R901K	RYR1_uc002oiu.3_Missense_Mutation_p.R901K	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	901	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GACAACAAGAGGCTGCACCCG	0.582000														150			39		0	0	1	0	0
OR52H1	390067	broad.mit.edu	37	11	5566169	5566169	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:5566169G>A	uc010qzh.2	-	0	585	c.585C>T	c.(583-585)ctC>ctT	p.L195L	HBG1_uc001mak.1_Intron	NM_001005289	NP_001005289	Q8NGJ2	O52H1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily H, member 1 (OR52H1), mRNA.	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGCACAGGCGAGCTGGGCAA	0.488000														66			15		0	0	1	0	0
RBM48	84060	broad.mit.edu	37	7	92158808	92158808	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:92158808G>A	uc003uma.3	+	1	171	c.130G>A	c.(130-132)Gaa>Aaa	p.E44K	PEX1_uc003uly.3_5'Flank|PEX1_uc011khr.2_5'Flank|PEX1_uc010ley.3_5'Flank|PEX1_uc011khs.2_5'Flank|RBM48_uc011khu.1_Missense_Mutation_p.E44K|RBM48_uc003ulz.3_Missense_Mutation_p.E44K			Q5RL73	CG064_HUMAN	Homo sapiens RNA binding motif protein 48 (RBM48), mRNA.	44							nucleotide binding										AATCAATTTGGAATCTCAGTA	0.353000														69			12		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100685682	100685682	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:100685682C>T	uc003uxp.1	+	2	11038	c.10985C>T	c.(10984-10986)aCc>aTc	p.T3662I	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3662	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCTGTTGACACCAGCACACCT	0.502000														224			34		0	0	1	0	0
WDR62	284403	broad.mit.edu	37	19	36587934	36587934	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:36587934C>T	uc002odd.2	+	20	2564	c.2473C>T	c.(2473-2475)Cgt>Tgt	p.R825C	WDR62_uc002odc.2_Missense_Mutation_p.R825C	NM_001083961	NP_001077430	O43379	WDR62_HUMAN	Homo sapiens WD repeat domain 62 (WDR62), transcript variant 1, mRNA.	825					cerebral cortex development	nucleus		p.R825C(2)		cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TCCAGATCCTCGTTGCCTGCT	0.552000														30			7		0	0	1	0	0
TRPV6	55503	broad.mit.edu	37	7	142575760	142575760	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:142575760G>A	uc003wbx.2	-	1	377	c.148C>T	c.(148-150)Ctt>Ttt	p.L50F	TRPV6_uc003wbw.1_5'Flank|TRPV6_uc010lou.1_5'UTR	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	50					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GCAGCTAGAAGGAGAGGAGAC	0.488000														56			14		0	0	1	0	0
LOC646214	646214	broad.mit.edu	37	15	21936638	21936638	+	RNA	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:21936638G>A	uc010tzj.1	-	0		c.4102C>T								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		CTAGTTTCAGGAAAAGATGCT	0.403000														242			14		0	0	1	0	0
SLC26A5	375611	broad.mit.edu	37	7	103029793	103029793	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:103029793T>C	uc003vbz.3	-	12	1652	c.1390A>G	c.(1390-1392)Acc>Gcc	p.T464A	SLC26A5_uc003vbt.2_Missense_Mutation_p.T464A|SLC26A5_uc003vbu.2_Missense_Mutation_p.T464A|SLC26A5_uc003vbv.2_Intron|SLC26A5_uc003vbw.3_Non-coding_Transcript|SLC26A5_uc003vby.3_Intron|SLC26A5_uc010liy.3_Intron|SLC26A5_uc003vbx.3_Intron	NM_198999	NP_945350	P58743	S26A5_HUMAN	Homo sapiens solute carrier family 26, member 5 (prestin) (SLC26A5), transcript variant a, mRNA.	464					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						ATTTTGCTGGTTCTCCAGAAA	0.413000														111			16		0	0	1	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12854125	12854125	+	Missense_Mutation	SNP	C	T	T	rs141554509		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:12854125C>T	uc001auj.2	+	2	452	c.349C>T	c.(349-351)Cct>Tct	p.P117S		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	117										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGCCAGATGGCCTGGAGCCTG	0.537000														307			53		0	0	1	0	0
HRH4	59340	broad.mit.edu	37	18	22057305	22057305	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr18:22057305C>T	uc002kvi.3	+	2	1052	c.952C>T	c.(952-954)Cca>Tca	p.P318S	HRH4_uc010xbd.2_3'UTR|HRH4_uc010dlx.3_Missense_Mutation_p.P230S	NM_021624	NP_067637	Q9H3N8	HRH4_HUMAN	Homo sapiens histamine receptor H4 (HRH4), transcript variant 1, mRNA.	318						integral to membrane|plasma membrane	histamine receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Clozapine(DB00363)	TTGCTGGGCTCCATATTCTCT	0.423000														169			41		0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18691178	18691178	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:18691178G>A	uc001rdt.3	+	23	3405	c.3289G>A	c.(3289-3291)Gaa>Aaa	p.E1097K	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.E1138K|PIK3C2G_uc010sic.2_Missense_Mutation_p.E916K	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	1097	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				AGATTTTGTGGAACTTTGCTG	0.383000														23			3		0	0	1	0	0
SLC3A2	6520	broad.mit.edu	37	11	62650391	62650391	+	Missense_Mutation	SNP	A	C	C			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:62650391A>C	uc001nwd.3	+	5	1171	c.913A>C	c.(913-915)Att>Ctt	p.I305L	SLC3A2_uc001nwc.3_Missense_Mutation_p.I306L|SLC3A2_uc001nwf.3_Missense_Mutation_p.I243L|SLC3A2_uc001nwg.3_Missense_Mutation_p.I204L|SLC3A2_uc010rml.1_Non-coding_Transcript	NM_002394	NP_001013269	P08195	4F2_HUMAN	Homo sapiens solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2 (SLC3A2), transcript variant 3, mRNA.	305					blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						CATCCGTGTCATTCTGGACCT	0.483000														106			22		0	0	1	0	0
SLC22A3	6581	broad.mit.edu	37	6	160829906	160829906	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:160829906C>T	uc003qti.3	+	3	837	c.810C>T	c.(808-810)atC>atT	p.I270I	SLC22A3_uc011efx.2_Non-coding_Transcript	NM_021977	NP_068812	O75751	S22A3_HUMAN	Homo sapiens solute carrier family 22 (extraneuronal monoamine transporter), member 3 (SLC22A3), mRNA.	270						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity	p.G269E(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		GGCAAGGAATCCAGTTAGCCA	0.408000														47			17		0	0	1	0	0
ARHGEF6	9459	broad.mit.edu	37	X	135827495	135827495	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chrX:135827495C>T	uc004fab.3	-	3	808	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K	ARHGEF6_uc011mwd.2_5'UTR|ARHGEF6_uc011mwe.2_5'UTR	NM_004840	NP_004831	Q15052	ARHG6_HUMAN	Homo sapiens Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 (ARHGEF6), mRNA.	116					JNK cascade|apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					CATGGTCTTTCTGATAGCTGA	0.428000														67			28		0	0	1	0	0
IKZF2	22807	broad.mit.edu	37	2	213872264	213872264	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:213872264C>T	uc002vem.3	-	7	1570	c.1401G>A	c.(1399-1401)caG>caA	p.Q467Q	IKZF2_uc010fuu.3_Silent_p.Q322Q|IKZF2_uc002vej.3_Silent_p.Q414Q|IKZF2_uc002vek.3_Non-coding_Transcript|IKZF2_uc010fuv.3_Silent_p.Q393Q|IKZF2_uc002vel.3_Silent_p.Q388Q|IKZF2_uc010fuw.3_Silent_p.Q241Q|IKZF2_uc010fux.3_Silent_p.Q241Q|IKZF2_uc010fuy.3_Silent_p.Q395Q|IKZF2_uc002ven.3_Silent_p.Q441Q|IKZF2_uc002vei.3_Silent_p.Q245Q	NM_016260	NP_057344	Q9UKS7	IKZF2_HUMAN	Homo sapiens IKAROS family zinc finger 2 (Helios) (IKZF2), transcript variant 1, mRNA.	467					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		AGGCCCTAATCTGTTCTCCTT	0.493000														92			22		0	0	1	0	0
CATSPERG	57828	broad.mit.edu	37	19	38860892	38860892	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:38860892C>T	uc002oih.4	+	27	3294	c.3207C>T	c.(3205-3207)atC>atT	p.I1069I	CATSPERG_uc002oig.4_Silent_p.I1029I|CATSPERG_uc002oif.4_Silent_p.I709I|CATSPERG_uc010efw.3_Non-coding_Transcript	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN	Homo sapiens cation channel, sperm-associated, gamma (CATSPERG), mRNA.	1069					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CCCTTTTCATCATCATGGTGA	0.577000														46			8		0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117180273	117180273	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:117180273G>A	uc003vjd.3	+	7	1121	c.989G>A	c.(988-990)gGa>gAa	p.G330E	CFTR_uc011knq.2_5'UTR	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	330	ABC transmembrane type-1 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	CTAATCAAAGGAATCATCCTC	0.463000									Cystic Fibrosis					91			10		0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198721378	198721378	+	Splice_Site	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:198721378G>A	uc001gur.1	+	30	3382	c.3202_splice	c.e30-1	p.E1068_splice	PTPRC_uc001gut.1_Splice_Site_p.E907_splice	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	1068	Tyrosine-protein phosphatase 2.				B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TTTTATCTAGGAAATCTGTGC	0.383000														25			6		0	0	1	0	0
OR6T1	219874	broad.mit.edu	37	11	123813765	123813765	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:123813765G>A	uc010sab.2	-	0	781	c.781C>T	c.(781-783)Cgt>Tgt	p.R261C		NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily T, member 1 (OR6T1), mRNA.	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R261H(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TCTGACATACGAATGTAGAGA	0.517000														91			17		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13850880	13850880	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:13850880G>A	uc003jfd.2	-	30	5037	c.4995C>T	c.(4993-4995)atC>atT	p.I1665I		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1665	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCCGAGTCATGATCTTCACCC	0.463000									Kartagener syndrome					80			16		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	8999545	8999545	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:8999545C>T	uc002mkp.3	-	55	40834	c.40630G>A	c.(40630-40632)Gcc>Acc	p.A13544T	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.A361T|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13546	SEA 10.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACTTTGGTGGCTGCCCCATCC	0.592000														68			18		0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108475848	108475848	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:108475848G>A	uc010ywk.2	+	10	1554	c.1472G>A	c.(1471-1473)gGa>gAa	p.G491E	RGPD4_uc002tdu.3_5'UTR|RGPD4_uc010ywl.2_Non-coding_Transcript	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	491					intracellular transport		binding	p.G491*(1)		breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TTTCTCCTTGGAGTAGTATAT	0.318000														45			38		0	0	1	0	0
FUT8	2530	broad.mit.edu	37	14	66082996	66082996	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:66082996C>T	uc001xin.3	+	4	2114	c.387C>T	c.(385-387)ttC>ttT	p.F129F	FUT8_uc001xio.3_Silent_p.F129F|FUT8_uc010tsp.2_5'UTR|FUT8_uc001xir.4_Non-coding_Transcript|FUT8_uc001xip.3_Silent_p.F129F|FUT8_uc001xiq.3_5'UTR|FUT8_uc021ruy.1_5'Flank	NM_178155	NP_004471	Q9BYC5	FUT8_HUMAN	Homo sapiens fucosyltransferase 8 (alpha (1,6) fucosyltransferase) (FUT8), transcript variant 1, mRNA.	129					L-fucose catabolic process|N-glycan processing|in utero embryonic development|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein glycosylation in Golgi	Golgi cisterna membrane|integral to membrane	SH3 domain binding|glycoprotein 6-alpha-L-fucosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		TCTGGTTTTTCCTACAGAGTG	0.378000														44			16		0	0	1	0	0
IRGC	56269	broad.mit.edu	37	19	44223004	44223004	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:44223004C>T	uc002oxh.3	+	1	441	c.294C>T	c.(292-294)ccC>ccT	p.P98P	IRGC_uc021uvh.1_Silent_p.P98P	NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN	Homo sapiens immunity-related GTPase family, cinema (IRGC), mRNA.	98						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				AACCGTCGCCCTATCCACACC	0.647000														53			14		0	0	1	0	0
FCRL3	115352	broad.mit.edu	37	1	157665297	157665297	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:157665297G>A	uc001fqz.4	-	7	1525	c.1233C>T	c.(1231-1233)ccC>ccT	p.P411P	FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Non-coding_Transcript|FCRL3_uc009wso.3_Non-coding_Transcript|FCRL3_uc001fra.3_Silent_p.P137P|FCRL3_uc001frb.3_Silent_p.P411P|FCRL3_uc001frc.1_Silent_p.P411P	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Homo sapiens Fc receptor-like 3 (FCRL3), mRNA.	411	Ig-like C2-type 5.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					ACAGGATCGGGGGAGAGCCTC	0.597000														70			13		0	0	1	0	0
OXCT1	5019	broad.mit.edu	37	5	41850282	41850282	+	Splice_Site	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:41850282C>T	uc003jmn.3	-	5	746	c.415_splice	c.e5-1	p.G139_splice		NM_000436	NP_000427	P55809	SCOT1_HUMAN	Homo sapiens 3-oxoacid CoA transferase 1 (OXCT1), nuclear gene encoding mitochondrial protein, mRNA.	139					cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	CAAGTGTGCCCTGCAAGTGAG	0.502000														34			3		0	0	1	0	0
CNGA4	1262	broad.mit.edu	37	11	6261005	6261005	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:6261005G>A	uc001mco.3	+	2	371	c.256G>A	c.(256-258)Gtg>Atg	p.V86M	CNGA4_uc010raa.2_Missense_Mutation_p.V46M|CNGA4_uc001mcn.3_Missense_Mutation_p.V46M	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 4 (CNGA4), mRNA.	86					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGACATGGTGGTGCGCTTCCA	0.542000														31			4		0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	132193002	132193002	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:132193002C>T	uc003vra.4	-	1	680	c.451G>A	c.(451-453)Gag>Aag	p.E151K	PLXNA4_uc003vrc.2_Missense_Mutation_p.E151K|PLXNA4_uc003vrb.3_Missense_Mutation_p.E151K	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	151	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGATAAGGCTCCCCCAGCTTG	0.532000														78			17		0	0	1	0	0
TNFSF8	944	broad.mit.edu	37	9	117692581	117692581	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:117692581C>T	uc004bji.2	-	0	295	c.3G>A	c.(1-3)atG>atA	p.M1I	TNFSF8_uc022bmi.1_Missense_Mutation_p.M1I	NM_001244	NP_001235	P32971	TNFL8_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 8 (TNFSF8), transcript variant 1, mRNA.	1					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						GCCCTGGGTCCATTCTTTATA	0.562000														66			16		0	0	1	0	0
CYP27A1	1593	broad.mit.edu	37	2	219677362	219677362	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:219677362G>A	uc002viz.4	+	3	1168	c.734G>A	c.(733-735)gGg>gAg	p.G245E		NM_000784	NP_000775	Q02318	CP27A_HUMAN	Homo sapiens cytochrome P450, family 27, subfamily A, polypeptide 1 (CYP27A1), nuclear gene encoding mitochondrial protein, mRNA.	245					bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)	AGATCCATCGGGTTAATGTTC	0.547000														378			254		0	0	1	0	0
BPIFA1	51297	broad.mit.edu	37	20	31828181	31828181	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr20:31828181C>T	uc002wyt.4	+	4	641	c.571C>T	c.(571-573)Ctg>Ttg	p.L191L	BPIFA1_uc002wyu.4_Silent_p.L191L|BPIFA1_uc002wyv.3_Silent_p.L191L	NM_130852	NP_570913	Q9NP55	PLUNC_HUMAN	Homo sapiens BPI fold containing family A, member 1 (BPIFA1), transcript variant 2, mRNA.	191					innate immune response	extracellular region	lipid binding	p.L191M(1)									GCAAATTTCTCTGCTTGATGG	0.517000														183			39		0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111603641	111603641	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:111603641G>A	uc010hqa.3	+	1	1128	c.717G>A	c.(715-717)agG>agA	p.R239R	PHLDB2_uc003dyc.3_Silent_p.R266R|PHLDB2_uc003dyd.3_Silent_p.R239R|PHLDB2_uc003dyg.3_Silent_p.R239R|PHLDB2_uc003dyh.3_Silent_p.R239R|PHLDB2_uc003dye.4_Silent_p.R239R|PHLDB2_uc003dyf.4_Silent_p.R239R	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	239						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						TGAGAACTAGGAAGTACTCCA	0.507000														74			9		0	0	1	0	0
CD1E	913	broad.mit.edu	37	1	158326534	158326534	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:158326534C>T	uc001fse.3	+	5	1308	c.1015C>T	c.(1015-1017)Ctt>Ttt	p.L339F	CD1E_uc001fsh.3_Intron|CD1E_uc001fry.3_Intron|CD1E_uc001fsf.3_Intron|CD1E_uc001fsg.3_3'UTR|CD1E_uc009wsv.3_Missense_Mutation_p.L240F|CD1E_uc001fsj.3_Intron|CD1E_uc001fsk.3_Missense_Mutation_p.L249F|CD1E_uc001fsa.3_Missense_Mutation_p.L95F|CD1E_uc001fsd.3_3'UTR|CD1E_uc001frz.3_Intron|CD1E_uc010pig.2_Intron|CD1E_uc001fsc.3_Missense_Mutation_p.L150F|CD1E_uc021pbm.1_Intron|CD1E_uc009wsw.3_Intron	NM_030893	NP_112155	P15812	CD1E_HUMAN	Homo sapiens CD1e molecule (CD1E), transcript variant 1, mRNA.	339					antigen processing and presentation|immune response	Golgi membrane|early endosome|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TAAGAACATTCTTTCTCCCCA	0.413000														90			17		0	0	1	0	0
TTLL13	440307	broad.mit.edu	37	15	90799107	90799107	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:90799107C>T	uc002bpd.1	+	4	826	c.538C>T	c.(538-540)Ctc>Ttc	p.L180F	TTLL13_uc002bpe.1_Intron	NM_001029964	NP_001025135	A6NNM8	TTL13_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 13 (TTLL13), mRNA.	180	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	16	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			CACCTGGTGCCTCCCCGCAGA	0.552000														449			78		0	0	1	0	0
PTPN21	11099	broad.mit.edu	37	14	88970769	88970769	+	Splice_Site	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:88970769C>T	uc001xwv.4	-	6	918	c.587_splice	c.e6+1	p.R196_splice	PTPN21_uc010twc.2_Splice_Site|PTPN21_uc010atf.1_Splice_Site_p.R196_splice	NM_007039	NP_008970	Q16825	PTN21_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 21 (PTPN21), mRNA.	196	FERM.					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TTAGAGTTACCTGTATTTCTG	0.303000														65			17		0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57209928	57209928	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:57209928C>T	uc001cym.4	-	9	1805	c.1399G>A	c.(1399-1401)Gag>Aag	p.E467K	C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc001cyl.3_Non-coding_Transcript	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	467										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						TCCAAAACCTCCAGATGCCCA	0.453000														10			3		0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103121890	103121890	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:103121890C>T	uc002tbz.4	+	3	1615	c.1158C>T	c.(1156-1158)atC>atT	p.I386I		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	386					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GGGCCTTCATCTGCTTCACCC	0.527000														96			12		0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96447648	96447648	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr10:96447648G>A	uc001kjv.4	+	1	616	c.290G>A	c.(289-291)aGa>aAa	p.R97K	CYP2C19_uc001kjw.4_Missense_Mutation_p.R97K|CYP2C19_uc009xus.1_5'Flank|CYP2C19_uc010qny.2_5'Flank	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	97					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	TTTTCTGGAAGAGGAAGTTTT	0.443000														80			14		0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28965102	28965102	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr18:28965102G>A	uc002kwr.2	+	1	187	c.52G>A	c.(52-54)Gtg>Atg	p.V18M	DSG4_uc002kwq.2_Missense_Mutation_p.V18M	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	18					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AAAACAGGTGGTGATGGAAGT	0.234000														72			19		0	0	1	0	0
IRF4	3662	broad.mit.edu	37	6	401567	401567	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:401567G>A	uc003msz.4	+	6	1015	c.889G>A	c.(889-891)Gac>Aac	p.D297N	IRF4_uc010jne.2_Missense_Mutation_p.D297N|IRF4_uc003mtb.4_Missense_Mutation_p.D296N|IRF4_uc021ykl.1_Missense_Mutation_p.D143N|IRF4_uc003mta.4_Non-coding_Transcript|IRF4_uc003mtc.1_Missense_Mutation_p.D127N	NM_002460	NP_002451	Q15306	IRF4_HUMAN	Homo sapiens interferon regulatory factor 4 (IRF4), transcript variant 1, mRNA.	297					T cell activation|interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		CTACCCAGAGGACAATGGCCA	0.607000			T	IGH@	MM									56			5		0	0	1	0	0
FXN	2395	broad.mit.edu	37	9	71668065	71668065	+	Silent	SNP	T	C	C			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:71668065T>C	uc004aha.2	+	2	493	c.273T>C	c.(271-273)gaT>gaC	p.D91D	FXN_uc011lrr.1_Silent_p.D91D|FXN_uc004agz.2_Silent_p.D91D	NM_000144	NP_000135	Q16595	FRDA_HUMAN	Homo sapiens frataxin (FXN), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	91					cellular iron ion homeostasis|cellular response to hydrogen peroxide|heme biosynthetic process|ion transport|iron incorporation into metallo-sulfur cluster|negative regulation of apoptosis|negative regulation of release of cytochrome c from mitochondria|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity|protein autoprocessing|regulation of ferrochelatase activity|response to iron ion	cytosol|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferric iron binding|ferrous iron binding|ferroxidase activity|iron chaperone activity|protein binding			large_intestine(1)|lung(1)	2						GCTCTCTAGATGAGACCACCT	0.363000														46			5		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79300958	79300958	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:79300958C>T	uc003hlb.2	+	26	3811	c.3371C>T	c.(3370-3372)tCc>tTc	p.S1124F	FRAS1_uc003hkw.3_Missense_Mutation_p.S1124F	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	1123					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CTGGATTTTTCCCTCCTGAAT	0.448000														26			3		0	0	1	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83400519	83400519	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chrX:83400519C>T	uc004eej.2	-	5	504	c.468G>A	c.(466-468)agG>agA	p.R156R	RPS6KA6_uc011mqt.2_Silent_p.R156R|RPS6KA6_uc011mqu.2_Silent_p.R53R|RPS6KA6_uc010nmo.1_Non-coding_Transcript	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 6 (RPS6KA6), mRNA.	156	Protein kinase 1.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						CATCTCCTCCCCTGAGAAAAT	0.303000														8			4		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117680496	117680496	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:117680496G>A	uc001twn.2	-	20	3790	c.3079C>T	c.(3079-3081)Cac>Tac	p.H1027Y	NOS1_uc021ren.1_Missense_Mutation_p.H657Y|NOS1_uc021reo.1_Missense_Mutation_p.H657Y|NOS1_uc001twm.2_Missense_Mutation_p.H993Y	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	993	FAD-binding FR-type.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CGCTTTTTGTGGACATTGGAT	0.517000														67			9		0	0	1	0	0
GAN	8139	broad.mit.edu	37	16	81411177	81411177	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:81411177C>T	uc002fgo.3	+	10	1918	c.1770C>T	c.(1768-1770)ttC>ttT	p.F590F		NM_022041	NP_071324	Q9H2C0	GAN_HUMAN	Homo sapiens gigaxonin (GAN), mRNA.	590					cell death	cytoplasm|neurofilament	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				AAGGCTTATTCCGTATTCGTG	0.527000														129			33		0	0	1	0	0
GALNTL4	374378	broad.mit.edu	37	11	11348663	11348663	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:11348663G>A	uc001mjo.2	-	8	1903	c.1482C>T	c.(1480-1482)atC>atT	p.I494I		NM_198516	NP_940918	Q6P9A2	GLTL4_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4 (GALNTL4), mRNA.	494	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26				all cancers(16;3.67e-05)|Epithelial(150;0.000184)		AGATGTACATGATGGGGACAT	0.512000														86			20		0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44035274	44035274	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:44035274C>T	uc001cjr.3	+	5	733	c.393C>T	c.(391-393)ccC>ccT	p.P131P	PTPRF_uc001cjq.4_Silent_p.P131P|PTPRF_uc001cjs.3_Silent_p.P131P|PTPRF_uc001cjt.4_Silent_p.P131P	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	131					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AACAGCTGCCCCCTGGGTTCC	0.602000														86			16		0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29608172	29608172	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr13:29608172C>T	uc001usl.4	+	1	2444	c.2386C>T	c.(2386-2388)Ctg>Ttg	p.L796L		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	786	Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GAGCAGGATTCTGATTGCAAG	0.517000														36			14		0	0	1	0	0
CBFA2T2	9139	broad.mit.edu	37	20	32217568	32217568	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr20:32217568C>T	uc002wzg.1	+	8	1640	c.1103C>T	c.(1102-1104)tCt>tTt	p.S368F	CBFA2T2_uc010zug.1_Missense_Mutation_p.S142F|CBFA2T2_uc002wze.1_Missense_Mutation_p.S359F|CBFA2T2_uc002wzf.1_Non-coding_Transcript|CBFA2T2_uc002wzh.1_Missense_Mutation_p.S339F|CBFA2T2_uc002wzi.1_Non-coding_Transcript|CBFA2T2_uc002wzj.1_Non-coding_Transcript	NM_005093	NP_001034798	O43439	MTG8R_HUMAN	Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 2 (CBFA2T2), transcript variant 2, mRNA.	368						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						ACAAGGCGCTCTATGGCAGTT	0.483000														104			29		0	0	1	0	0
CEACAM20	125931	broad.mit.edu	37	19	45028187	45028187	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:45028187C>T	uc010ejn.1	-	2	320	c.304G>A	c.(304-306)Gtt>Att	p.V102I	CEACAM20_uc010ejo.1_Missense_Mutation_p.V102I|CEACAM20_uc010ejp.1_Missense_Mutation_p.V102I|CEACAM20_uc010ejq.1_Missense_Mutation_p.V102I	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA.	102	Ig-like C2-type 1.					integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				TTGTTGGAAACCCAGTGGATG	0.537000														32			8		0	0	1	0	0
OR6K6	128371	broad.mit.edu	37	1	158725074	158725074	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:158725074C>T	uc001fsw.1	+	0	469	c.469C>T	c.(469-471)Cca>Tca	p.P157S		NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 6 (OR6K6), mRNA.	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					TATCTGCAATCCACTCCGTTA	0.478000														78			17		0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54307284	54307284	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:54307284C>T	uc002qcj.4	-	5	2730	c.2510G>A	c.(2509-2511)gGa>gAa	p.G837E	NLRP12_uc010eqw.3_Missense_Mutation_p.G119E|NLRP12_uc002qch.4_Missense_Mutation_p.G836E|NLRP12_uc002qci.4_Missense_Mutation_p.G836E|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.G837E	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	836					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CAGTGCATTTCCTGTCAGGTC	0.562000														62			6		0	0	1	0	0
ARHGAP25	9938	broad.mit.edu	37	2	68962352	68962352	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:68962352G>A	uc010fdg.3	+	0	440	c.21G>A	c.(19-21)agG>agA	p.R7R	ARHGAP25_uc010yqk.2_Intron|ARHGAP25_uc010yql.2_Silent_p.R7R	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Homo sapiens Rho GTPase activating protein 25 (ARHGAP25), transcript variant 1, mRNA.	7					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						AATTGCCAAGGAACTGGGATT	0.443000														122			19		0	0	1	0	0
CYP2C8	1558	broad.mit.edu	37	10	96818161	96818161	+	Missense_Mutation	SNP	T	G	G			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr10:96818161T>G	uc001kkb.3	-	4	845	c.750A>C	c.(748-750)gaA>gaC	p.E250D	CYP2C8_uc010qoa.2_Missense_Mutation_p.E180D|CYP2C8_uc010qoc.2_Missense_Mutation_p.E148D|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_Missense_Mutation_p.E164D|CYP2C8_uc021pwl.1_Missense_Mutation_p.E180D|CYP2C8_uc010qod.1_Missense_Mutation_p.E164D	NM_000770	NP_000761	P10632	CP2C8_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA.	250					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	ATGCTTGGTGTTCTTTTACTT	0.373000														23			10		0	0	1	0	0
GCOM1	145781	broad.mit.edu	37	15	57910263	57910263	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:57910263G>A	uc002aei.3	+	2	326	c.195G>A	c.(193-195)agG>agA	p.R65R	GCOM1_uc002aej.3_Silent_p.R65R|GCOM1_uc002aek.3_Non-coding_Transcript|GCOM1_uc002ael.3_Non-coding_Transcript|GCOM1_uc002aem.3_Silent_p.R65R|GCOM1_uc002aep.3_Non-coding_Transcript|GCOM1_uc010bfx.3_Non-coding_Transcript|GCOM1_uc002aeq.3_Non-coding_Transcript|GCOM1_uc002aen.3_Non-coding_Transcript|GCOM1_uc010bfy.3_Non-coding_Transcript|GCOM1_uc002aeo.3_Silent_p.R65R	NM_001018100	NP_001018110	P0CAP1	GCOM1_HUMAN	Homo sapiens myocardial zonula adherens protein (MYZAP), transcript variant 1, mRNA.	65					intracellular signal transduction	I band|extrinsic to internal side of plasma membrane				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						AACCTACCAGGAAACTTCCTC	0.423000														50			10		0	0	1	0	0
AACSP1	729522	broad.mit.edu	37	5	178199573	178199573	+	RNA	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:178199573C>T	uc011dgk.2	-	3		c.316G>A			AACSP1_uc011dgl.2_Non-coding_Transcript|AACSP1_uc003mjk.3_Non-coding_Transcript					Homo sapiens acetoacetyl-CoA synthetase pseudogene 1 (AACSP1), non-coding RNA.																		ACCCTCTCTTCCCCGTACTTG	0.582000														35			5		0	0	1	0	0
FRMD4B	23150	broad.mit.edu	37	3	69245538	69245538	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:69245538G>A	uc003dnv.2	-	13	1392	c.1102C>T	c.(1102-1104)Cct>Tct	p.P368S	FRMD4B_uc003dnw.2_Intron|FRMD4B_uc003dnu.2_Missense_Mutation_p.P20S|FRMD4B_uc011bga.1_Missense_Mutation_p.P212S	NM_015123	NP_055938	Q9Y2L6	FRM4B_HUMAN	Homo sapiens FERM domain containing 4B (FRMD4B), mRNA.	368						cytoplasm|cytoskeleton	binding	p.P314S(1)		NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		CTGGCTGAAGGAATTTTTGCC	0.363000														60			8		0	0	1	0	0
AGRN	375790	broad.mit.edu	37	1	979020	979020	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:979020C>T	uc001ack.2	+	8	1756	c.1706C>T	c.(1705-1707)tCc>tTc	p.S569F		NM_198576	NP_940978	O00468	AGRIN_HUMAN	Homo sapiens agrin (AGRN), mRNA.	569	Kazal-like 6.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GTGTGTGGCTCCGACGGGCAC	0.682000														114			17		0	0	1	0	0
OR2L13	284521	broad.mit.edu	37	1	248263268	248263268	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:248263268G>A	uc001ids.3	+	2	928	c.591G>A	c.(589-591)atG>atA	p.M197I	OR2L13_uc021pmc.1_Missense_Mutation_p.M197I	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 13 (OR2L13), mRNA.	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			ATGAATATATGGTTTTTGTAA	0.438000														65			17		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24832141	24832141	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr10:24832141G>A	uc001iru.4	+	18	4345	c.3942G>A	c.(3940-3942)acG>acA	p.T1314T	KIAA1217_uc001irs.3_Intron|KIAA1217_uc001irt.4_Intron|KIAA1217_uc010qcy.2_Intron|KIAA1217_uc010qcz.2_Intron|KIAA1217_uc001irw.3_Intron|KIAA1217_uc001irz.3_Intron|KIAA1217_uc001irx.3_Silent_p.T997T|KIAA1217_uc001iry.3_Intron|KIAA1217_uc001isa.1_Silent_p.T150T	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1314					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AGCAAAATACGGATAAGTGTC	0.418000														66			22		0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73962824	73962824	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chrX:73962824C>T	uc004eby.3	-	2	2185	c.1568G>A	c.(1567-1569)tGg>tAg	p.W523*		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	523					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTTGGGACACCATTCATCATC	0.393000														9			6		0	0	1	0	0
OR1L4	254973	broad.mit.edu	37	9	125486428	125486428	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:125486428C>T	uc004bmu.1	+	0	160	c.160C>T	c.(160-162)Ccc>Tcc	p.P54S		NM_001005235	NP_001005235	Q8NGR5	OR1L4_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 4 (OR1L4), mRNA.	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						CTACTCTGACCCCAGGCTCCA	0.473000														62			13		0	0	1	0	0
SOHLH1	402381	broad.mit.edu	37	9	138588462	138588462	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:138588462G>A	uc010nbe.3	-	4	718	c.657C>T	c.(655-657)ttC>ttT	p.F219F	SOHLH1_uc004cgl.3_Silent_p.F219F	NM_001101677	NP_001095147	Q5JUK2	SOLH1_HUMAN	Homo sapiens spermatogenesis and oogenesis specific basic helix-loop-helix 1 (SOHLH1), transcript variant 1, mRNA.	219					cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		ACTCACCTGAGAAAGGGGGCA	0.657000														31			5		0	0	1	0	0
RASGRF1	5923	broad.mit.edu	37	15	79382829	79382829	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:79382829C>T	uc002beq.3	-	0	387	c.12G>A	c.(10-12)ggG>ggA	p.G4G	RASGRF1_uc002bep.3_Silent_p.G4G|RASGRF1_uc002ber.4_Silent_p.G4G	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA.	4					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TCAGCCGGATCCCCTTCTGCA	0.662000														259			50		0	0	1	0	0
OR1F1	4992	broad.mit.edu	37	16	3254267	3254267	+	Silent	SNP	G	A	A	rs144582974		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:3254267G>A	uc010uwu.2	+	0	21	c.21G>A	c.(19-21)tcG>tcA	p.S7S		NM_012360	NP_036492	O43749	OR1F1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily F, member 1 (OR1F1), mRNA.	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						CAAACCAGTCGAGTGTCTCCG	0.557000														38			4		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71163659	71163659	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:71163659C>T	uc002ezr.3	-	8	1262	c.1111G>A	c.(1111-1113)Gat>Aat	p.D371N	HYDIN_uc010cfz.2_Missense_Mutation_p.D116N|HYDIN_uc021tkq.1_Missense_Mutation_p.D371N|HYDIN_uc010vmc.2_Missense_Mutation_p.D388N|HYDIN_uc010vmd.2_Missense_Mutation_p.D398N|HYDIN_uc002ezw.4_Missense_Mutation_p.D388N	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	371										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGTAAAGGATCAGTAATGCAC	0.443000														22			4		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69136817	69136817	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:69136817G>A	uc003xxv.1	+	38	4758	c.4731G>A	c.(4729-4731)gcG>gcA	p.A1577A		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	1577					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding	p.A1577V(1)		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						AGAACACAGCGAAGAATTTGG	0.458000														53			8		0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39228702	39228702	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:39228702G>A	uc003cjk.2	-	1	2464	c.2235C>T	c.(2233-2235)atC>atT	p.I745I	XIRP1_uc003cji.3_Silent_p.I745I|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Silent_p.I745I	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	745							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TGCCCCCTTGGATGCTCTCAG	0.612000														36			17		0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56482034	56482034	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:56482034C>T	uc002qmh.3	+	5	2577	c.2506C>T	c.(2506-2508)Ctg>Ttg	p.L836L	NLRP8_uc010etg.3_Silent_p.L836L	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	836						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GGCGTATTACCTGTCTGTGGC	0.463000														176			23		0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168834131	168834131	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:168834131G>A	uc011bpj.1	-	7	1932	c.1529C>T	c.(1528-1530)tCt>tTt	p.S510F	MECOM_uc010hwk.1_Missense_Mutation_p.S345F|MECOM_uc003ffj.3_Missense_Mutation_p.S387F|MECOM_uc003ffi.3_Missense_Mutation_p.S322F|MECOM_uc011bpi.1_Missense_Mutation_p.S323F|MECOM_uc003ffn.3_Missense_Mutation_p.S322F|MECOM_uc003ffk.2_Missense_Mutation_p.S322F|MECOM_uc003ffl.2_Missense_Mutation_p.S482F|MECOM_uc011bpk.1_Missense_Mutation_p.S322F|MECOM_uc010hwn.2_Missense_Mutation_p.S510F	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TTTAACAGGAGAACTAGCAGG	0.453000														51			14		0	0	1	0	0
TFCP2	7024	broad.mit.edu	37	12	51497944	51497944	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:51497944G>A	uc001rxw.3	-	8	1681	c.960C>T	c.(958-960)gtC>gtT	p.V320V	TFCP2_uc001rxv.2_Silent_p.V320V|TFCP2_uc009zlx.2_Silent_p.V269V|TFCP2_uc009zly.1_Silent_p.V222V	NM_005653	NP_005644	Q12800	TFCP2_HUMAN	Homo sapiens transcription factor CP2 (TFCP2), transcript variant 1, mRNA.	320	DNA-binding.				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.P319A(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						TTACATCTGTGACTGGAGGGG	0.408000														114			13		0	0	1	0	0
HSP90B3P	343477	broad.mit.edu	37	1	92109137	92109137	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:92109137G>A	uc010osx.2	+	2	1164	c.1164G>A	c.(1162-1164)aaG>aaA	p.K388K						Homo sapiens heat shock protein 90kDa beta (Grp94), member 3, pseudogene (HSP90B3P), non-coding RNA.																		AAATTGAGAAGGCTGTGGTGT	0.458000														17			6		0	0	1	0	0
C3orf25	90288	broad.mit.edu	37	3	129127593	129127593	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:129127593C>T	uc003emg.3	-	5	1307	c.1144G>A	c.(1144-1146)Gag>Aag	p.E382K		NM_207307	NP_997190			Homo sapiens chromosome 3 open reading frame 25 (C3orf25), mRNA.											breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|prostate(2)	23						TCAATGAGCTCCCTCATATCC	0.577000														16			3		0	0	1	0	0
ABCC1	4363	broad.mit.edu	37	16	16138472	16138472	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:16138472C>T	uc010bvi.3	+	7	1150	c.975C>T	c.(973-975)ttC>ttT	p.F325F	ABCC1_uc010bvj.3_Silent_p.F325F|ABCC1_uc010bvk.3_Silent_p.F325F|ABCC1_uc010bvl.3_Silent_p.F325F|ABCC1_uc010bvm.3_Silent_p.F325F|ABCC1_uc002del.4_Silent_p.F209F|ABCC1_uc010bvn.3_Silent_p.F188F	NM_004996	NP_004987	P33527	MRP1_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA.	325	ABC transmembrane type-1 1.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GGCCCTACTTCCTCATGAGCT	0.512000														80			13		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237843765	237843765	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:237843765C>T	uc001hyl.1	+	61	9025	c.8905C>T	c.(8905-8907)Cct>Tct	p.P2969S	RYR2_uc010pxz.1_5'UTR	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	2969	Modulator (Potential).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGTCGTTCTTCCTTTAATTGA	0.423000														13			3		0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19451450	19451450	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:19451450G>A	uc002dgc.4	+	2	839	c.90G>A	c.(88-90)ttG>ttA	p.L30L	TMC5_uc010vaq.2_Silent_p.L30L|TMC5_uc002dgb.4_Silent_p.L30L|TMC5_uc010var.2_Silent_p.L30L	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	30						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						AGGGGTATTTGAAAACTCAAG	0.498000														67			18		0	0	1	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70712832	70712832	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:70712832C>T	uc010ttg.2	-	0	1687	c.1036G>A	c.(1036-1038)Gag>Aag	p.E346K						Homo sapiens ADAM metallopeptidase domain 21 pseudogene 1 (ADAM21P1), non-coding RNA.																		CCAAAAATCTCCCTGCAATGC	0.423000														65			4		0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18435666	18435666	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:18435666G>A	uc001rdt.3	+	1	767	c.651G>A	c.(649-651)tgG>tgA	p.W217*	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Nonsense_Mutation_p.W217*|PIK3C2G_uc010sic.2_5'UTR	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	217					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CCGGAATGTGGGAAAGTACAT	0.358000														115			27		0	0	1	0	0
AMIGO2	347902	broad.mit.edu	37	12	47472017	47472017	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:47472017C>T	uc001rpm.3	-	2	1424	c.769G>A	c.(769-771)Gat>Aat	p.D257N	FAM113B_uc001rpn.3_5'Flank|AMIGO2_uc001rpk.3_Missense_Mutation_p.D257N|AMIGO2_uc001rpl.3_Missense_Mutation_p.D257N|AMIGO2_uc021qxg.1_Missense_Mutation_p.D257N	NM_001143668	NP_862830	Q86SJ2	AMGO2_HUMAN	Homo sapiens adhesion molecule with Ig-like domain 2 (AMIGO2), transcript variant 1, mRNA.	257	LRRCT.				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)					CAGGTGTAATCGTTCTTAAAA	0.473000														52			13		0	0	1	0	0
VAV3	10451	broad.mit.edu	37	1	108247175	108247175	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:108247175C>T	uc001dvk.1	-	16	1756	c.1702G>A	c.(1702-1704)Ggt>Agt	p.G568S	VAV3_uc010ouw.1_Missense_Mutation_p.G568S|VAV3_uc001dvl.1_Missense_Mutation_p.G392S|VAV3_uc010oux.1_Missense_Mutation_p.G568S	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	Homo sapiens vav 3 guanine nucleotide exchange factor (VAV3), transcript variant 1, mRNA.	568					B cell receptor signaling pathway|angiogenesis|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		GACTTACCACCAGAATTAACT	0.338000														47			10		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141072507	141072507	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:141072507G>A	uc002tvj.1	-	82	13774	c.12802C>T	c.(12802-12804)Cta>Tta	p.L4268L		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	4268	EGF-like 11.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.L4268I(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TATTTACCTAGAACTGATGGT	0.353000										TSP Lung(27;0.18)				25			10		0	0	1	0	0
UNC13B	10497	broad.mit.edu	37	9	35381639	35381639	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:35381639C>T	uc003zwr.3	+	18	2623	c.2331C>T	c.(2329-2331)taC>taT	p.Y777Y	UNC13B_uc003zwq.3_Silent_p.Y777Y	NM_006377	NP_006368	O14795	UN13B_HUMAN	Homo sapiens unc-13 homolog B (C. elegans) (UNC13B), mRNA.	777					excretion|induction of apoptosis|intracellular signal transduction	Golgi apparatus|cell junction|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GGAAGGTGTACTTTGATGAGA	0.512000														187			34		0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2367652	2367652	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:2367652G>A	uc002cpy.1	-	8	1699	c.987C>T	c.(985-987)gtC>gtT	p.V329V	ABCA3_uc010bsk.1_Silent_p.V329V|ABCA3_uc010bsl.1_Silent_p.V329V	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.	329					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				TGCTCACCTTGACACAGAAGA	0.607000														73			12		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227924301	227924301	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:227924301C>T	uc021vxr.1	-	26	2304	c.2203G>A	c.(2203-2205)Gaa>Aaa	p.E735K	COL4A4_uc021vxs.1_Missense_Mutation_p.E735K	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	735	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GACCCCTTTTCACCTCCAAAA	0.483000														68			39		0	0	1	0	0
MCM2	4171	broad.mit.edu	37	3	127339643	127339643	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:127339643G>A	uc003ejp.3	+	13	2425	c.2368G>A	c.(2368-2370)Gac>Aac	p.D790N	MCM2_uc011bkm.2_Missense_Mutation_p.D660N|MCM2_uc010hsl.3_Non-coding_Transcript|MCM2_uc011bkn.2_Missense_Mutation_p.D743N	NM_004526	NP_004517	P49736	MCM2_HUMAN	Homo sapiens minichromosome maintenance complex component 2 (MCM2), mRNA.	790					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex|chromatin	ATP binding|helicase activity|metal ion binding	p.D790N(2)		ovary(3)|skin(2)|stomach(1)	6						GATCGAAGACGACGTCAACAT	0.597000														148			56		0	0	1	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111595675	111595675	+	Splice_Site	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:111595675C>T	uc003kpv.1	-	8	917	c.643_splice	c.e8-1	p.G215_splice		NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4A (EPB41L4A), mRNA.	215	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		CTTGTTTTCTCCCTGCAAAAA	0.323000														42			11		0	0	1	0	0
CTIF	9811	broad.mit.edu	37	18	46237999	46237999	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr18:46237999C>T	uc002ldd.3	+	7	876	c.517C>T	c.(517-519)Ccg>Tcg	p.P173S	CTIF_uc002ldc.3_Missense_Mutation_p.P173S	NM_001142397	NP_001135869	O43310	CTIF_HUMAN	Homo sapiens CBP80/20-dependent translation initiation factor (CTIF), transcript variant 2, mRNA.	173	Interaction with NCBP1/CBP80.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						GGGCTACCACCCGATGCCCCA	0.522000											OREG0024973	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		296			50		0	0	1	0	0
LUM	4060	broad.mit.edu	37	12	91502721	91502721	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:91502721C>T	uc001tbm.3	-	1	425	c.36G>A	c.(34-36)ttG>ttA	p.L12L		NM_002345	NP_002336	P51884	LUM_HUMAN	Homo sapiens lumican (LUM), mRNA.	12					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent	p.A11T(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						TACCACCAATCAATGCCAGGA	0.343000														36			9		0	0	1	0	0
ILDR1	286676	broad.mit.edu	37	3	121712496	121712496	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:121712496C>T	uc003ees.3	-	6	1303	c.1100G>A	c.(1099-1101)gGg>gAg	p.G367E	ILDR1_uc003eeq.3_Missense_Mutation_p.G335E|ILDR1_uc003eer.3_Missense_Mutation_p.G323E|ILDR1_uc010hrg.3_Missense_Mutation_p.G278E	NM_001199799	NP_001186728	Q86SU0	ILDR1_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 1 (ILDR1), transcript variant 1, mRNA.	367						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		GTGGCTTCTCCCCTCCCTCAG	0.592000														72			15		0	0	1	0	0
NAP1L3	4675	broad.mit.edu	37	X	92926790	92926790	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chrX:92926790C>T	uc004efq.3	-	0	1893	c.1514G>A	c.(1513-1515)aGa>aAa	p.R505K	FAM133A_uc022bzw.1_5'Flank|FAM133A_uc022bzu.1_5'Flank|FAM133A_uc004efr.2_5'Flank|FAM133A_uc022bzv.1_5'Flank	NM_004538	NP_004529	Q99457	NP1L3_HUMAN	Homo sapiens nucleosome assembly protein 1-like 3 (NAP1L3), mRNA.	505					nucleosome assembly	chromatin assembly complex				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						GACTTATTTTCTGTATTTCTT	0.318000														7			9		0	0	1	0	0
ZNF737	100129842	broad.mit.edu	37	19	20727979	20727979	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:20727979C>T	uc002npa.3	-	3	1210	c.1030G>A	c.(1030-1032)Gaa>Aaa	p.E344K		NM_001159293	NP_001152765	C9JHM3	C9JHM3_HUMAN	Homo sapiens zinc finger protein 737 (ZNF737), mRNA.	344					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						CCACATTCTTCACATTTGTAG	0.403000														38			10		0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29557326	29557326	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:29557326G>A	uc002hgg.3	+	22	3422	c.3039G>A	c.(3037-3039)acG>acA	p.T1013T	NF1_uc002hgh.3_Silent_p.T1013T|NF1_uc010csn.2_Silent_p.T873T|NF1_uc002hgi.1_Silent_p.T46T	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1013					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AAATAAAAACGAAACTGTGTC	0.338000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				34			11		0	0	1	0	0
BHLHE40	8553	broad.mit.edu	37	3	5023178	5023179	+	Silent	DNP	CC	TT	TT			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:5023178_5023179CC>TT	uc003bqf.3	+	3	667_668	c.360_361CC>TT	c.(358-363)gccctg>gcTTtg	p.120_121AL>AL	LOC100507582_uc003bqe.1_5'Flank|LOC100507582_uc010hce.2_5'Flank|BHLHE40_uc011asw.2_5'UTR	NM_003670	NP_003661	O14503	BHE40_HUMAN	Homo sapiens basic helix-loop-helix family, member e40 (BHLHE40), mRNA.	120						Golgi apparatus|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						AAATCATTGCCCTGCAGAGTGG	0.441000														441			69		0	0	1	0	0
MCF2	4168	broad.mit.edu	37	X	138669927	138669927	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chrX:138669927C>T	uc011mwn.1	-	24	2911	c.2905G>A	c.(2905-2907)Gat>Aat	p.D969N	MCF2_uc004fav.3_Missense_Mutation_p.D840N|MCF2_uc004fau.3_Missense_Mutation_p.D824N|MCF2_uc010nsh.2_Missense_Mutation_p.D824N|MCF2_uc011mwm.2_Missense_Mutation_p.D785N|MCF2_uc011mwl.2_Missense_Mutation_p.D801N|MCF2_uc011mwo.1_Missense_Mutation_p.D900N|MCF2_uc004faw.2_Missense_Mutation_p.D884N	NM_001171878	NP_001165349	P10911	MCF2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence (MCF2), transcript variant 5, mRNA.	824					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	Rho guanyl-nucleotide exchange factor activity|protein binding			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					GTTAATTGATCCTGTTGCTTT	0.333000														20			13		0	0	1	0	0
AXIN1	8312	broad.mit.edu	37	16	396885	396885	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:396885C>T	uc002cgp.2	-	1	530	c.141G>A	c.(139-141)ggG>ggA	p.G47G	AXIN1_uc002cgq.2_Silent_p.G47G	NM_003502	NP_003493	O15169	AXIN1_HUMAN	Homo sapiens axin 1 (AXIN1), transcript variant 1, mRNA.	47					Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis|activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	GTPase activator activity|I-SMAD binding|armadillo repeat domain binding|beta-catenin binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	p.G47R(1)		biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CAACACCTTTCCCGGAGCAGA	0.627000											OREG0003698	type=REGULATORY REGION|Gene=AXIN1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		51			11		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20990798	20990798	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:20990798G>A	uc010vbe.2	-	49	7930	c.7930C>T	c.(7930-7932)Cga>Tga	p.R2644*	DNAH3_uc010vbd.2_Nonsense_Mutation_p.R79*	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2644	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TTGTGTCTTCGAAGTTTGTTG	0.478000														80			15		0	0	1	0	0
OR10W1	81341	broad.mit.edu	37	11	58035226	58035226	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:58035226G>A	uc001nmq.1	-	0	507	c.105C>T	c.(103-105)ctC>ctT	p.L35L		NM_207374	NP_997257	Q8NGF6	O10W1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily W, member 1 (OR10W1), mRNA.	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				ACACCACAATGAGAATGTTCC	0.473000														62			14		0	0	1	0	0
ARID4A	5926	broad.mit.edu	37	14	58832826	58832826	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:58832826C>T	uc001xdp.3	+	21	3655	c.3401C>T	c.(3400-3402)cCa>cTa	p.P1134L	ARID4A_uc001xdo.3_Intron|ARID4A_uc001xdq.3_Intron	NM_002892	NP_002883	P29374	ARI4A_HUMAN	Homo sapiens AT rich interactive domain 4A (RBP1-like) (ARID4A), transcript variant 1, mRNA.	1134					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GTATCTAAGCCACAGAAACTT	0.383000														233			62		0	0	1	0	0
OR5H15	403274	broad.mit.edu	37	3	97888463	97888463	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:97888463G>A	uc011bgu.2	+	0	920	c.920G>A	c.(919-921)aGa>aAa	p.R307K		NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 15 (OR5H15), mRNA.	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R307K(2)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						ATGTTAAAAAGAAATGTTAAG	0.303000														11			4		0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55873194	55873194	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:55873194C>T	uc010riy.2	+	0	676	c.676C>T	c.(676-678)Ctg>Ttg	p.L226L		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA.	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CTTTACCATCCTGAAAATTAA	0.383000										HNSCC(53;0.14)				77			15		0	0	1	0	0
AZGP1	563	broad.mit.edu	37	7	99565827	99565827	+	Silent	SNP	C	T	T	rs150096066	by1000genomes	TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:99565827C>T	uc003ush.3	-	2	656	c.564G>A	c.(562-564)gcG>gcA	p.A188A		NM_001185	NP_001176	P25311	ZA2G_HUMAN	Homo sapiens alpha-2-glycoprotein 1, zinc-binding (AZGP1), mRNA.	188					antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	MHC class I protein complex|extracellular region	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					TCCGCAGAGTCGCAGGGCACT	0.552000														128			16		0	0	1	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52001304	52001304	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:52001304G>A	uc002pwx.1	-	4	1429	c.1373C>T	c.(1372-1374)tCc>tTc	p.S458F	SIGLEC12_uc002pww.1_Missense_Mutation_p.S340F|SIGLEC12_uc010eoy.1_Missense_Mutation_p.S185F	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 12 (gene/pseudogene) (SIGLEC12), transcript variant 1, mRNA.	458	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GAGGCTCAGGGAAATGTGCTG	0.592000														69			11		0	0	1	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69100213	69100213	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:69100213C>T	uc003hdw.4	-	4	573	c.437G>A	c.(436-438)tGg>tAg	p.W146*		NM_182502	NP_872308	Q86T26	TM11B_HUMAN	Homo sapiens transmembrane protease, serine 11B (TMPRSS11B), mRNA.	146	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						AACTGCATTCCAGGATGCCAT	0.333000														57			9		0	0	1	0	0
YTHDF3	253943	broad.mit.edu	37	8	64098919	64098919	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:64098919C>T	uc003xuy.3	+	4	663	c.347C>T	c.(346-348)cCa>cTa	p.P116L	YTHDF3_uc010lys.3_Missense_Mutation_p.P61L|YTHDF3_uc003xuz.3_Missense_Mutation_p.P61L|YTHDF3_uc003xva.3_Missense_Mutation_p.P61L|YTHDF3_uc011len.2_Missense_Mutation_p.P61L	NM_152758	NP_689971	Q7Z739	YTHD3_HUMAN	Homo sapiens YTH domain family, member 3 (YTHDF3), mRNA.	117												Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			AATACCCCTCCATTTCTTGGT	0.408000														30			7		0	0	1	0	0
VARS	7407	broad.mit.edu	37	6	31759515	31759515	+	Splice_Site	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:31759515C>T	uc003nxe.3	-	8	1396	c.973_splice	c.e8-1	p.R325_splice	VARS_uc011doi.1_Splice_Site	NM_006295	NP_006286	P26640	SYVC_HUMAN	Homo sapiens valyl-tRNA synthetase (VARS), nuclear gene encoding mitochondrial protein, mRNA.	325					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CATTAGGACGCTGATGGTGGA	0.592000														153			23		0	0	1	0	0
ZNF682	91120	broad.mit.edu	37	19	20117876	20117876	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:20117876G>A	uc002noq.3	-	3	558	c.435C>T	c.(433-435)ttC>ttT	p.F145F	ZNF682_uc002noo.3_Silent_p.F113F|ZNF682_uc002nop.3_Silent_p.F113F|ZNF682_uc010eck.3_Silent_p.F69F	NM_033196	NP_001070817	O95780	ZN682_HUMAN	Homo sapiens zinc finger protein 682 (ZNF682), transcript variant 1, mRNA.	145					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						TATTATATGGGAAAATTTTGC	0.308000														45			11		0	0	1	0	0
EFHC1	114327	broad.mit.edu	37	6	52317558	52317558	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:52317558C>T	uc003pap.4	+	3	861	c.646C>T	c.(646-648)Cga>Tga	p.R216*	EFHC1_uc011dwv.1_Nonsense_Mutation_p.R125*|EFHC1_uc011dww.2_Nonsense_Mutation_p.R197*	NM_018100	NP_060570	Q5JVL4	EFHC1_HUMAN	Homo sapiens EF-hand domain (C-terminal) containing 1 (EFHC1), transcript variant A, mRNA.	216						axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					CACTGAACTCCGAAAACAGCC	0.378000														119			15		0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25839976	25839976	+	Silent	SNP	T	C	C			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr10:25839976T>C	uc001isj.3	+	5	1536	c.1476T>C	c.(1474-1476)ttT>ttC	p.F492F		NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	492						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						TTCTCGGTTTTGCTACTGTTT	0.398000														93			23		0	0	1	0	0
GRXCR1	389207	broad.mit.edu	37	4	42965003	42965003	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:42965003G>A	uc003gwt.3	+	1	480	c.479G>A	c.(478-480)aGa>aAa	p.R160K		NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN	Homo sapiens glutaredoxin, cysteine rich 1 (GRXCR1), mRNA.	160	Glutaredoxin.				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						GAACTGGTTAGAAAGATTTTC	0.413000														80			22		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237806680	237806680	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:237806680C>T	uc001hyl.1	+	47	7395	c.7275C>T	c.(7273-7275)tcC>tcT	p.S2425S		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	2425	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTTTGAGATCCCTCATTCCCC	0.423000														109			12		0	0	1	0	0
CER1	9350	broad.mit.edu	37	9	14722289	14722289	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:14722289C>T	uc003zlj.3	-	0	427	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K		NM_005454	NP_005445	O95813	CER1_HUMAN	Homo sapiens cerberus 1, cysteine knot superfamily, homolog (Xenopus laevis) (CER1), mRNA.	128					BMP signaling pathway	extracellular space	cytokine activity			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		TTGGCTTCTTCCCGAAGAGGA	0.507000														47			6		0	0	1	0	0
LTB	4050	broad.mit.edu	37	6	31550180	31550180	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:31550180C>T	uc003nuk.3	-	0	23	c.15G>A	c.(13-15)ggG>ggA	p.G5G	LTB_uc003nul.3_Silent_p.G5G	NM_002341	NP_002332	Q06643	TNFC_HUMAN	Homo sapiens lymphotoxin beta (TNF superfamily, member 3) (LTB), transcript variant 1, mRNA.	5					cell-cell signaling|immune response|positive regulation of interleukin-12 biosynthetic process|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	9					Infliximab(DB00065)|Simvastatin(DB00641)	TGCCCTCCAGCCCCAGTGCCC	0.652000														41			13		0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47432958	47432958	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr18:47432958G>A	uc002leb.2	-	18	2533	c.2245C>T	c.(2245-2247)Cga>Tga	p.R749*		NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	749	Myosin head-like.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TGGCCTGCTCGAAAGAAGATC	0.557000														68			23		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55540140	55540140	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:55540140C>T	uc003xsd.1	+	3	3846	c.3698C>T	c.(3697-3699)tCc>tTc	p.S1233F	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1233					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CAAGGAATCTCCTCTTTGGAT	0.443000														94			22		0	0	1	0	0
TCR-alpha	0	broad.mit.edu	37	14	22573859	22573859	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:22573859G>A	uc001wdb.2	+	1	116	c.79G>A	c.(79-81)Gaa>Aaa	p.E27K	TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron					SubName: Full=cDNA FLJ59026;																		ACTGAACGTGGAACAAAGTCC	0.438000														10			4		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995261	140995261	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chrX:140995261C>T	uc004fbt.3	+	3	2395	c.2071C>T	c.(2071-2073)Cct>Tct	p.P691S	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.P350S	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	691							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCCTGTCTCCTCTCCAAAT	0.567000										HNSCC(15;0.026)				29			21		0	0	1	0	0
ERC1	23085	broad.mit.edu	37	12	1289817	1289817	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:1289817A>G	uc001qjb.2	+	8	2090	c.1849A>G	c.(1849-1851)Act>Gct	p.T617A	ERC1_uc001qiz.2_Non-coding_Transcript|ERC1_uc001qjc.2_Missense_Mutation_p.T589A|ERC1_uc001qja.2_Non-coding_Transcript|ERC1_uc001qjd.2_Non-coding_Transcript|ERC1_uc001qjf.2_Missense_Mutation_p.T617A|ERC1_uc010sdv.1_Missense_Mutation_p.T365A|ERC1_uc009zdp.3_Missense_Mutation_p.T257A	NM_178040	NP_829884	Q8IUD2	RB6I2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 1 (ERC1), transcript variant epsilon, mRNA.	617					I-kappaB phosphorylation|multicellular organismal development|positive regulation of NF-kappaB transcription factor activity|positive regulation of anti-apoptosis|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			TGCCTTGACAACTTTGGAGGA	0.473000														122			30		0	0	1	0	0
ZNF862	643641	broad.mit.edu	37	7	149543252	149543252	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:149543252C>T	uc010lpn.3	+	2	341	c.149C>T	c.(148-150)gCc>gTc	p.A50V		NM_001099220	NP_001092690	O60290	ZN862_HUMAN	Homo sapiens zinc finger protein 862 (ZNF862), mRNA.	50	KRAB 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						CCAACTGTTGCCAATCCTGAG	0.547000														39			5		0	0	1	0	0
CD177	57126	broad.mit.edu	37	19	43864489	43864489	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:43864489C>T	uc002owi.3	+	5	734	c.692C>T	c.(691-693)aCc>aTc	p.T231I	CD177_uc010eis.3_Non-coding_Transcript|CD177_uc002owj.3_Non-coding_Transcript	NM_020406	NP_065139	Q8N6Q3	CD177_HUMAN	Homo sapiens CD177 molecule (CD177), mRNA.	231					blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				ACTGATTGGACCACATCGAAT	0.542000														13			8		0	0	1	0	0
ZNF679	168417	broad.mit.edu	37	7	63726636	63726636	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:63726636G>A	uc003tsx.3	+	4	894	c.625G>A	c.(625-627)Gag>Aag	p.E209K		NM_153363	NP_699194	Q8IYX0	ZN679_HUMAN	Homo sapiens zinc finger protein 679 (ZNF679), mRNA.	209					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						TCATACTAGGGAGAATTCCTA	0.358000														10			5		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179444921	179444921	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:179444921C>T	uc021vsy.1	-	266	59614	c.59389G>A	c.(59389-59391)Gaa>Aaa	p.E19797K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E13492K|TTN_uc021vta.1_Missense_Mutation_p.E13425K|TTN_uc021vtb.1_Missense_Mutation_p.E13300K|AX746670_uc002umv.1_3'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	20724	Fibronectin type-III 43.						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)			TTGGATATTTCCTTAACAGTC	0.373000														14			12		0	0	1	0	0
CHRD	8646	broad.mit.edu	37	3	184106376	184106376	+	Splice_Site	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:184106376G>A	uc003fov.3	+	21	2801	c.2555_splice	c.e21-1	p.V852_splice	CHRD_uc003fow.3_Splice_Site_p.V482_splice|CHRD_uc003fox.3_Splice_Site_p.V852_splice|CHRD_uc003foy.3_Splice_Site_p.V482_splice|CHRD_uc010hyc.3_Splice_Site_p.V442_splice|CHRD_uc011brr.2_Splice_Site_p.V394_splice	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	Homo sapiens chordin (CHRD), mRNA.	852					BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCTCAACAGTGGGGTCGGGGG	0.587000														148			53		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176760588	176760588	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:176760588G>A	uc001gkz.3	+	18	6154	c.4990G>A	c.(4990-4992)Gag>Aag	p.E1664K	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1664	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.V1663fs*17(2)|p.E1664D(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GAATTCTGTGGAGTACAAATG	0.423000														50			13		0	0	1	0	0
CTSA	5476	broad.mit.edu	37	20	44521930	44521931	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr20:44521930_44521931CC>TT	uc002xqh.3	+	6	1100_1101	c.726_727CC>TT	c.(724-729)taccat>taTTat	p.H243Y	NEURL2_uc002xqg.1_5'Flank|CTSA_uc002xqj.4_Missense_Mutation_p.H225Y|CTSA_uc010zxi.2_Missense_Mutation_p.H226Y|CTSA_uc002xqi.3_Non-coding_Transcript	NM_000308	NP_001121167	P10619	PPGB_HUMAN	Homo sapiens cathepsin A (CTSA), transcript variant 1, mRNA.	225					intracellular protein transport|proteolysis	endoplasmic reticulum|lysosome|nucleus	enzyme activator activity|protein binding|serine-type carboxypeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				TTGCCTACTACCATGGCCTTCT	0.550000														98			11		0	0	1	0	0
TNFSF11	8600	broad.mit.edu	37	13	43180672	43180672	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr13:43180672G>A	uc001uyu.2	+	4	721	c.572G>A	c.(571-573)cGg>cAg	p.R191Q	TNFSF11_uc001uyt.2_Missense_Mutation_p.R118Q	NM_003701	NP_143026	O14788	TNF11_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 11 (TNFSF11), transcript variant 1, mRNA.	191					immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell activation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of osteoclast differentiation	cytoplasm|extracellular space|integral to plasma membrane	cytokine activity|receptor activity|tumor necrosis factor receptor binding			kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	10		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)		TACCATGATCGGGGTTGGGCC	0.418000														71			18		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11774915	11774915	+	Splice_Site	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:11774915G>A	uc002gne.3	+	52	10122	c.10054_splice	c.e52-1	p.V3352_splice	DNAH9_uc010coo.3_Splice_Site_p.V2646_splice	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	3352					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAAATGGTAGGTTGGAGGACT	0.512000														93			26		0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41566326	41566326	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:41566326C>T	uc003xok.3	-	16	2052	c.1968G>A	c.(1966-1968)tcG>tcA	p.S656S	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_5'Flank|ANK1_uc003xoi.3_Silent_p.S656S|ANK1_uc003xoj.3_Silent_p.S656S|ANK1_uc003xol.3_Silent_p.S656S|ANK1_uc003xom.3_Silent_p.S689S	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	656	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGGCTTGTTTCGAGAGCAGCA	0.582000														176			39		0	0	1	0	0
HBG1	3047	broad.mit.edu	37	11	5275566	5275566	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:5275566C>T	uc001mai.1	-	1	708	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K	HBG1_uc001mak.1_Non-coding_Transcript|HBG1_uc001maj.1_Missense_Mutation_p.E91K	NM_000559	NP_000550	P69891	HBG1_HUMAN	Homo sapiens hemoglobin, gamma A (HBG1), mRNA.	91					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity|protein binding			large_intestine(1)|lung(3)|skin(1)	5		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGTGCAGTTCACTCAGCTGG	0.507000														139			8		0	0	1	0	0
VPS37B	79720	broad.mit.edu	37	12	123351786	123351786	+	Silent	SNP	G	A	A	rs138310143	byFrequency	TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:123351786G>A	uc001udl.3	-	3	838	c.735C>T	c.(733-735)ccC>ccT	p.P245P		NM_024667	NP_078943	Q9H9H4	VP37B_HUMAN	Homo sapiens vacuolar protein sorting 37 homolog B (S. cerevisiae) (VPS37B), mRNA.	245	Pro-rich.				cellular membrane organization|endosome transport|protein transport	late endosome membrane				breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		GGCCCACGCGGGGGGGCAGGG	0.687000														66			18		0	0	1	0	0
C12orf63	374467	broad.mit.edu	37	12	97057618	97057618	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:97057618G>A	uc021rcc.1	+	5	824	c.746G>A	c.(745-747)cGa>cAa	p.R249Q				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	249								p.R249Q(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						ATAACTTGCCGAAATTTCATT	0.308000														37			6		0	0	1	0	0
QKI	9444	broad.mit.edu	37	6	163876429	163876429	+	Nonsense_Mutation	SNP	T	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:163876429T>A	uc003qui.3	+	1	812	c.261T>A	c.(259-261)taT>taA	p.Y87*	QKI_uc003quj.3_Nonsense_Mutation_p.Y87*|QKI_uc003quh.3_Nonsense_Mutation_p.Y87*|QKI_uc003que.3_Nonsense_Mutation_p.Y87*|QKI_uc003quf.3_Nonsense_Mutation_p.Y87*|QKI_uc003qug.3_Nonsense_Mutation_p.Y87*	NM_006775	NP_006766	Q96PU8	QKI_HUMAN	Homo sapiens QKI, KH domain containing, RNA binding (QKI), transcript variant 1, mRNA.	87	KH.				RNA splicing|mRNA processing|mRNA transport|regulation of translation	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		AGAAACTTTATGTGCCTGTAA	0.348000														107			27		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65262322	65262322	+	Silent	SNP	G	A	A	rs146670683		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:65262322G>A	uc001xht.3	-	10	1428	c.1377C>T	c.(1375-1377)gcC>gcT	p.A459A	SPTB_uc001xhr.3_Silent_p.A459A|SPTB_uc001xhs.3_Silent_p.A459A|SPTB_uc001xhu.3_Silent_p.A459A	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	459					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TCTTCTTGGCGGCCTCCACAG	0.602000														72			14		0	0	1	0	0
EEF1A1	1915	broad.mit.edu	37	6	74229188	74229188	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:74229188C>T	uc003phi.3	-	1	1188	c.196G>A	c.(196-198)Gag>Aag	p.E66K	EEF1A1_uc003phj.3_Missense_Mutation_p.E66K|EEF1A1_uc021zbs.1_Non-coding_Transcript|EEF1A1_uc003phl.3_Missense_Mutation_p.E66K|EEF1A1_uc003phm.1_Intron|EEF1A1_uc021zbt.1_5'Flank|EEF1A1_uc021zbu.1_5'Flank	NM_001402	NP_001393	P68104	EF1A1_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 alpha 1 (EEF1A1), mRNA.	66						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						CGTTCACGCTCAGCTTTCAGT	0.433000											OREG0003890	type=REGULATORY REGION|Gene=LOC477388|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		97			22		0	0	1	0	0
CCDC67	159989	broad.mit.edu	37	11	93127724	93127724	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:93127724G>A	uc001pdq.3	+	9	1241	c.1141G>A	c.(1141-1143)Gag>Aag	p.E381K	CCDC67_uc001pdo.1_Missense_Mutation_p.E381K|CCDC67_uc001pdp.3_Missense_Mutation_p.E381K	NM_181645	NP_857596	Q05D60	CCD67_HUMAN	Homo sapiens coiled-coil domain containing 67 (CCDC67), mRNA.	381										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				TCATCAGAAGGAGATCACTAT	0.373000														18			4		0	0	1	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21794020	21794020	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:21794020G>A	uc001wag.3	+	15	2398	c.2398G>A	c.(2398-2400)Gag>Aag	p.E800K	RPGRIP1_uc001wah.3_Missense_Mutation_p.E442K|RPGRIP1_uc001wai.3_Intron|RPGRIP1_uc001wak.3_Missense_Mutation_p.E275K|RPGRIP1_uc010aim.3_Missense_Mutation_p.E183K|RPGRIP1_uc001wal.3_Missense_Mutation_p.E159K|RPGRIP1_uc001wam.3_Missense_Mutation_p.E117K	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA.	800					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		ACCTCAGAACGAGCTGTGGAT	0.502000														36			9		0	0	1	0	0
OR8A1	390275	broad.mit.edu	37	11	124440102	124440102	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:124440102C>T	uc010san.2	+	0	138	c.138C>T	c.(136-138)ctC>ctT	p.L46L		NM_001005194	NP_001005194	Q8NGG7	OR8A1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily A, member 1 (OR8A1), mRNA.	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		CCCTCTTTCTCCTCTTCCTCG	0.512000														57			12		0	0	1	0	0
BNIP2	663	broad.mit.edu	37	15	59964837	59964837	+	Splice_Site	SNP	T	C	C			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:59964837T>C	uc010uhc.2	-	6	941	c.938_splice	c.e6+1	p.K313_splice	BNIP2_uc010uhb.2_Splice_Site_p.K254_splice	NM_004330	NP_004321	Q12982	BNIP2_HUMAN	Homo sapiens BCL2/adenovirus E1B 19kDa interacting protein 2 (BNIP2), mRNA.	192					anti-apoptosis|apoptosis|positive regulation of muscle cell differentiation	nuclear envelope|perinuclear region of cytoplasm	GTPase activator activity|calcium ion binding|protein binding			NS(1)|large_intestine(2)|lung(5)|ovary(1)	9						TATACTTACTTAAAAAGATTG	0.308000														58			14		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122002865	122002865	+	Silent	SNP	C	T	T	rs150869744	byFrequency	TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:122002865C>T	uc003eew.4	+	6	2532	c.2094C>T	c.(2092-2094)ttC>ttT	p.F698F	CASR_uc003eev.4_Silent_p.F688F	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	688					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GCATCAGCTTCGTGCTCTGCA	0.612000														80			29		0	0	1	0	0
ZNF614	80110	broad.mit.edu	37	19	52520153	52520153	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:52520153C>T	uc002pyj.3	-	4	1100	c.698G>A	c.(697-699)gGa>gAa	p.G233E	ZNF614_uc002pyi.4_Intron|ZNF614_uc010epj.3_5'UTR	NM_025040	NP_079316	Q8N883	ZN614_HUMAN	Homo sapiens zinc finger protein 614 (ZNF614), mRNA.	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TTGACCACTTCCAGGATTCTC	0.363000														53			18		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24921643	24921643	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:24921643G>A	uc001ywo.3	+	0	1103	c.629G>A	c.(628-630)gGa>gAa	p.G210E		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	210					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CCTCTGGAGGGAAATGTCTAC	0.612000														24			8		0	0	1	0	0
OR2AE1	81392	broad.mit.edu	37	7	99474348	99474348	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:99474348G>A	uc003usc.1	-	0	309	c.309C>T	c.(307-309)ctC>ctT	p.L103L		NM_001005276	NP_001005276	Q8NHA4	O2AE1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AE, member 1 (OR2AE1), mRNA.	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					GACACAAATAGAGGAAGTGCT	0.468000														85			12		0	0	1	0	0
ATP6V0E2	155066	broad.mit.edu	37	7	149576474	149576474	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:149576474C>T	uc003wgr.3	+	3	1370	c.419C>T	c.(418-420)tCg>tTg	p.S140L	ATP6V0E2_uc003wgp.3_3'UTR|ATP6V0E2_uc003wgs.3_Missense_Mutation_p.S117L|ATP6V0E2_uc003wgq.3_Non-coding_Transcript|DQ590227_uc003wgt.1_5'Flank	NM_145230	NP_660265	Q8NHE4	VA0E2_HUMAN	Homo sapiens ATPase, H+ transporting V0 subunit e2 (ATP6V0E2), transcript variant 1, mRNA.	0					ATP hydrolysis coupled proton transport|cell growth|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport|vacuolar acidification	endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuole	ATPase activity, coupled to transmembrane movement of ions|hydrogen ion transmembrane transporter activity			lung(1)	1			OV - Ovarian serous cystadenocarcinoma(82;0.00256)			ACAACCCCTTCGTCCGGACCC	0.622000														40			6		0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86394693	86394693	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:86394693G>A	uc003uid.3	+	1	1331	c.232G>A	c.(232-234)Gaa>Aaa	p.E78K	GRM3_uc010lef.3_Missense_Mutation_p.E76K|GRM3_uc010leg.3_Intron|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	78					synaptic transmission	integral to plasma membrane		p.D77Y(2)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TGCTATTGATGAAATCAACAA	0.423000														107			16		0	0	1	0	0
UGT2B17	7367	broad.mit.edu	37	4	69403518	69403518	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:69403518C>T	uc021xov.1	-	5	1461	c.1418G>A	c.(1417-1419)gGa>gAa	p.G473E		NM_001077	NP_001068	O75795	UDB17_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B17 (UGT2B17), mRNA.	473					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						GTGCTTGGCTCCTTTATGGCG	0.483000														105			32		0	0	1	0	0
C11orf46	120534	broad.mit.edu	37	11	30352784	30352784	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:30352784G>A	uc001mso.1	+	1	453	c.289G>A	c.(289-291)Gat>Aat	p.D97N		NM_152316	NP_689529	Q8N8R7	CK046_HUMAN	Homo sapiens chromosome 11 open reading frame 46 (C11orf46), mRNA.	97										cervix(1)|endometrium(1)|kidney(2)|lung(7)	11						TGACTTAGATGATGCCACTTT	0.358000														86			19		0	0	1	0	0
BPIFB2	80341	broad.mit.edu	37	20	31607401	31607401	+	Missense_Mutation	SNP	C	T	T	rs150536106		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr20:31607401C>T	uc002wyj.3	+	10	1119	c.925C>T	c.(925-927)Ccc>Tcc	p.P309S		NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN	Homo sapiens BPI fold containing family B, member 2 (BPIFB2), mRNA.	309						extracellular region	lipid binding	p.P309S(1)									CCGCCAGTTTCCCGAGCCCAT	0.667000														36			7		0	0	1	0	0
EPHA4	2043	broad.mit.edu	37	2	222347181	222347181	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:222347181G>A	uc002vmq.3	-	4	1251	c.1209C>T	c.(1207-1209)ctC>ctT	p.L403L	EPHA4_uc002vmr.2_Silent_p.L403L|EPHA4_uc010zlm.1_Silent_p.L344L	NM_004438	NP_004429	P54764	EPHA4_HUMAN	Homo sapiens EPH receptor A4 (EPHA4), mRNA.	403	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TATGAGCTAGGAGGTCAGTGA	0.512000														241			97		0	0	1	0	0
DLK2	65989	broad.mit.edu	37	6	43418978	43418978	+	Missense_Mutation	SNP	C	T	T	rs142658388		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:43418978C>T	uc003ova.3	-	5	660	c.451G>A	c.(451-453)Gac>Aac	p.D151N	DLK2_uc003ovb.3_Missense_Mutation_p.D151N	NM_023932	NP_996262	Q6UY11	DLK2_HUMAN	Homo sapiens delta-like 2 homolog (Drosophila) (DLK2), transcript variant 1, mRNA.	151	EGF-like 4.					integral to membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			AAGCCCTGGTCGTCCTGGCAC	0.597000														55			10		0	0	1	0	0
FAM75D1	389763	broad.mit.edu	37	9	84608425	84608425	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:84608425G>A	uc004amn.3	+	3	3087	c.3040G>A	c.(3040-3042)Gag>Aag	p.E1014K		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	1014						integral to membrane				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						TGACCTTATAGAGACAGATTC	0.488000														158			34		0	0	1	0	0
ZC4H2	55906	broad.mit.edu	37	X	64140111	64140111	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chrX:64140111G>A	uc004dvu.3	-	2	404	c.248C>T	c.(247-249)tCt>tTt	p.S83F	ZC4H2_uc004dvv.3_Missense_Mutation_p.S60F|ZC4H2_uc022byd.1_Missense_Mutation_p.S60F|ZC4H2_uc022byc.1_Missense_Mutation_p.S60F|ZC4H2_uc011mow.2_Missense_Mutation_p.S83F|ZC4H2_uc011mov.2_Missense_Mutation_p.S60F|ZC4H2_uc004dvw.2_Missense_Mutation_p.S83F	NM_018684	NP_001230733	Q9NQZ6	ZC4H2_HUMAN	Homo sapiens zinc finger, C4H2 domain containing (ZC4H2), transcript variant 1, mRNA.	83							metal ion binding|protein binding			endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GTCATTCTCAGATTGTTTGAT	0.443000														55			25		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57334199	57334199	+	Missense_Mutation	SNP	G	A	A	rs151090043		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:57334199G>A	uc002qnu.2	-	2	838	c.487C>T	c.(487-489)Cgg>Tgg	p.R163W	PEG3_uc010ygr.1_5'UTR|PEG3_uc010ygq.1_5'UTR|PEG3_uc002qnr.2_Missense_Mutation_p.R38W|PEG3_uc010etp.2_Missense_Mutation_p.R38W|PEG3_uc010ygs.1_Missense_Mutation_p.R38W|PEG3_uc002qnq.2_Missense_Mutation_p.R38W|PEG3_uc002qnt.2_Missense_Mutation_p.R164W|PEG3_uc002qnv.2_Missense_Mutation_p.R163W|PEG3_uc002qnw.2_Missense_Mutation_p.R38W|PEG3_uc002qnx.2_Missense_Mutation_p.R37W|PEG3_uc010etr.2_Missense_Mutation_p.R163W	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	163					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCCCAGTCCCGGTCACCTAAG	0.532000														16			3		0	0	1	0	0
GABRA3	2556	broad.mit.edu	37	X	151424446	151424446	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chrX:151424446G>A	uc010ntk.1	-	4	595	c.355C>T	c.(355-357)Cgg>Tgg	p.R119W		NM_000808	NP_000799	P34903	GBRA3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 3 (GABRA3), mRNA.	119					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding	p.R119fs*6(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CATGTCTGCCGAAAAAATACA	0.423000														15			11		0	0	1	0	0
MOGAT1	116255	broad.mit.edu	37	2	223559157	223559157	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:223559157C>T	uc010fws.1	+	3	603	c.555C>T	c.(553-555)gtC>gtT	p.V185V	MOGAT1_uc010fwt.1_Silent_p.V145V	NM_058165	NP_477513	Q96PD6	MOGT1_HUMAN	Homo sapiens monoacylglycerol O-acyltransferase 1 (MOGAT1), mRNA.	185					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			breast(1)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1)	9		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)		CTGTCATTGTCCTTGGGGGTG	0.438000														40			5		0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57640376	57640376	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:57640376G>A	uc002qny.3	+	3	689	c.333G>A	c.(331-333)atG>atA	p.M111I	USP29_uc021vci.1_Missense_Mutation_p.M111I	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	111					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGCAACCCATGAAATCTGATG	0.353000														63			9		0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122645327	122645328	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:122645327_122645328CC>TT	uc003efz.1	-	8	1351_1352	c.1047_1048GG>AA	c.(1045-1050)ccgggc>ccAAgc	p.G350S	SEMA5B_uc011bju.1_Missense_Mutation_p.G292S|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Missense_Mutation_p.G350S|SEMA5B_uc010hro.1_Missense_Mutation_p.G292S|SEMA5B_uc010hrp.1_Non-coding_Transcript	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA.	350	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GGGACCTCGCCCGGGCGGGAGC	0.604000														42			16		0	0	1	0	0
IFNA7	3444	broad.mit.edu	37	9	21202101	21202101	+	Missense_Mutation	SNP	G	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:21202101G>T	uc003zop.1	-	0	104	c.64C>A	c.(64-66)Ctg>Atg	p.L22M	IFNA14_uc003zoo.1_Intron	NM_021057	NP_066401	P01567	IFNA7_HUMAN	Homo sapiens interferon, alpha 7 (IFNA7), mRNA.	22					blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TCACAGCCCAGAGAGCAGATG	0.507000														64			9		0.0692343	0.0693185	1	1	0
HFM1	164045	broad.mit.edu	37	1	91740286	91740286	+	Splice_Site	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:91740286C>T	uc001doa.4	-	33	3767	c.3668_splice	c.e33+1	p.R1223_splice	HFM1_uc009wdb.3_Splice_Site|HFM1_uc010osu.2_Splice_Site_p.R902_splice|HFM1_uc001dob.4_Splice_Site_p.R411_splice|HFM1_uc010osv.1_Splice_Site_p.R907_splice	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA.	1223							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TATATTTGTACCTTGATATAC	0.323000														27			5		0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71509557	71509557	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:71509557G>A	uc011caw.1	+	8	2695	c.2414G>A	c.(2413-2415)gGt>gAt	p.G805D		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	805					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			GACCAGAAAGGTAACCAGCCC	0.453000														53			10		0	0	1	0	0
WFIKKN2	124857	broad.mit.edu	37	17	48917212	48917212	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:48917212C>T	uc002isv.4	+	1	1257	c.563C>T	c.(562-564)cCa>cTa	p.P188L	WFIKKN2_uc010dbu.3_Missense_Mutation_p.P95L	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	Homo sapiens WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 (WFIKKN2), mRNA.	188						extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			AGCCCCCCACCACCTGAGACC	0.637000														56			19		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13900363	13900363	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:13900363G>A	uc003jfd.2	-	14	2253	c.2211C>T	c.(2209-2211)tcC>tcT	p.S737S		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	737	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCTGGAAGAGGGAAGTTGCCA	0.403000									Kartagener syndrome					63			7		0	0	1	0	0
ANKS4B	257629	broad.mit.edu	37	16	21261887	21261887	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:21261887G>A	uc010bwp.1	+	1	1043	c.1000G>A	c.(1000-1002)Gat>Aat	p.D334N	CRYM_uc010bwq.1_Intron	NM_145865	NP_665872	Q8N8V4	ANS4B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 4B (ANKS4B), mRNA.	334								p.D334N(2)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		GTGGGATGACGATGAAGTGGA	0.517000														52			18		0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	72680484	72680484	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:72680484C>T	uc001sxa.3	+	1	833	c.803C>T	c.(802-804)tCg>tTg	p.S268L		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	268					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ACTCAGTTTTCGCCTACACAT	0.363000														52			9		0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28918418	28918418	+	Splice_Site	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr18:28918418G>A	uc002kwp.3	+	10	1617	c.1405_splice	c.e10+1	p.D469_splice		NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	469	Cadherin 4.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TCTATAGATGGTAAGAAATTA	0.308000														50			8		0	0	1	0	0
GCKR	2646	broad.mit.edu	37	2	27731112	27731112	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:27731112C>T	uc002rky.3	+	15	1482	c.1416C>T	c.(1414-1416)ttC>ttT	p.F472F	GCKR_uc010ezd.3_Silent_p.F470F|GCKR_uc010ylu.2_Silent_p.F282F	NM_001486	NP_001477	Q14397	GCKR_HUMAN	Homo sapiens glucokinase (hexokinase 4) regulator (GCKR), mRNA.	472	SIS 2.				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					AAGGGAACTTCATCCAGGTAT	0.478000														70			16		0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131912288	131912289	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:131912288_131912289CC>TT	uc003vra.4	-	6	2032_2033	c.1803_1804GG>AA	c.(1801-1806)atggat>atAAat	p.601_602MD>IN		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	601						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						ACCAGCCCATCCATCTCTGACA	0.609000														108			9		0	0	1	0	0
VANGL1	81839	broad.mit.edu	37	1	116206470	116206470	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:116206470C>T	uc001efv.1	+	3	664	c.393C>T	c.(391-393)atC>atT	p.I131I	VANGL1_uc009wgy.1_Silent_p.I129I|VANGL1_uc021ose.1_Silent_p.I131I	NM_138959	NP_620409	Q8TAA9	VANG1_HUMAN	Homo sapiens vang-like 1 (van gogh, Drosophila) (VANGL1), transcript variant 1, mRNA.	131					multicellular organismal development	integral to membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TTGCCTTCATCCTTTTACCTC	0.522000														54			15		0	0	1	0	0
ANKRD5	63926	broad.mit.edu	37	20	10030780	10030780	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr20:10030780G>A	uc002wno.3	+	6	1956	c.1563G>A	c.(1561-1563)aaG>aaA	p.K521K	LOC100131208_uc002wnn.2_Intron|ANKRD5_uc002wnp.3_Silent_p.K521K|ANKRD5_uc010gbz.3_Silent_p.K332K	NM_022096	NP_942093	Q9NU02	ANKR5_HUMAN	Homo sapiens ankyrin repeat domain 5 (ANKRD5), transcript variant 1, mRNA.	521							calcium ion binding			breast(2)|endometrium(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	37						TGGATATGAAGGATAATTATT	0.413000														32			8		0	0	1	0	0
EPHA2	1969	broad.mit.edu	37	1	16455930	16455930	+	Splice_Site	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:16455930C>T	uc001aya.2	-	16	2980	c.2825_splice	c.e16+1	p.D942_splice		NM_004431	NP_004422	P29317	EPHA2_HUMAN	Homo sapiens EPH receptor A2 (EPHA2), mRNA.	942	Negatively regulates interaction with ARHGEF16.|SAM.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	CTGACTTACTCGTTGGTCATC	0.637000														123			23		0	0	1	0	0
FBXL12	54850	broad.mit.edu	37	19	9921728	9921728	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:9921728G>A	uc002mme.3	-	2	1067	c.825C>T	c.(823-825)ctC>ctT	p.L275L	FBXL12_uc002mmd.3_Silent_p.L222L|FBXL12_uc002mmf.3_Silent_p.L222L|FBXL12_uc002mmg.3_Silent_p.L222L	NM_017703	NP_060173	Q9NXK8	FXL12_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 12 (FBXL12), mRNA.	275							protein binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2)	10						GGCAGGAGGAGAGGATTTCAG	0.652000														27			6		0	0	1	0	0
TGM1	7051	broad.mit.edu	37	14	24730925	24730925	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:24730925G>A	uc001wod.3	-	2	608	c.484C>T	c.(484-486)Cgc>Tgc	p.R162C	TGM1_uc010tog.2_Intron|TGM1_uc021rrn.1_5'Flank	NM_000359	NP_000350	P22735	TGM1_HUMAN	Homo sapiens transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase) (TGM1), mRNA.	162					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	AGGGTGATGCGATCAGAGGAT	0.572000														137			29		0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29608252	29608252	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr13:29608252C>T	uc001usl.4	+	1	2524	c.2466C>T	c.(2464-2466)tcC>tcT	p.S822S		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	812	Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.|Sufficient for interaction with KIF2C.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	p.S822S(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TCTACAGTTCCGATCCTTCAG	0.463000														41			26		0	0	1	0	0
METTL19	152992	broad.mit.edu	37	4	8467274	8467274	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:8467274C>T	uc003glg.2	+	7	1498	c.1480C>T	c.(1480-1482)Cct>Tct	p.P494S	METTL19_uc003glf.1_Missense_Mutation_p.P253S|METTL19_uc003glh.1_Missense_Mutation_p.P102S	NM_152544	NP_689757	Q8IYL2	TRM44_HUMAN	Homo sapiens methyltransferase like 19 (METTL19), transcript variant 2, mRNA.	494					tRNA processing	cytoplasm	methyltransferase activity|nucleic acid binding|zinc ion binding			kidney(1)|lung(6)|ovary(3)|prostate(1)	11						CCTCAGGATTCCTTCAACCAA	0.498000														55			10		0	0	1	0	0
C17orf77	146723	broad.mit.edu	37	17	72588657	72588657	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:72588657G>A	uc002jla.1	+	2	834	c.472G>A	c.(472-474)Gga>Aga	p.G158R	CD300LD_uc002jkz.2_5'Flank|C17orf77_uc021ucq.1_Missense_Mutation_p.G158R	NM_152460	NP_689673	Q96MU5	CQ077_HUMAN	Homo sapiens chromosome 17 open reading frame 77 (C17orf77), mRNA.	158						extracellular region				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						GGAGGAGCCAGGAGGAACCCA	0.577000														43			9		0	0	1	0	0
KCNJ3	3760	broad.mit.edu	37	2	155566141	155566141	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:155566141C>T	uc002tyv.1	+	1	924	c.729C>T	c.(727-729)ttC>ttT	p.F243F	KCNJ3_uc010zce.1_Intron|KCNJ3_uc021vrh.1_Silent_p.F243F	NM_002239	NP_002230	P48549	IRK3_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 3 (KCNJ3), mRNA.	243					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	p.E242K(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	AGGGTGAGTTCCTTCCCCTTG	0.458000														36			26		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36897417	36897417	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:36897417C>T	uc003cgj.3	-	11	3912	c.3664G>A	c.(3664-3666)Gaa>Aaa	p.E1222K		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1222					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	p.E672K(2)|p.E1222K(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CTTCCATCTTCGTTTCTCAGA	0.483000														59			29		0	0	1	0	0
SH2D7	646892	broad.mit.edu	37	15	78390807	78390807	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:78390807G>A	uc010blb.1	+	3	514	c.514G>A	c.(514-516)Gca>Aca	p.A172T		NM_001101404	NP_001094874	A6NKC9	SH2D7_HUMAN	Homo sapiens SH2 domain containing 7 (SH2D7), mRNA.	172										endometrium(2)|kidney(2)|lung(3)	7						ACCTGCCACGGCATTCCTCAC	0.607000														57			9		0	0	1	0	0
P2RY13	53829	broad.mit.edu	37	3	151046014	151046014	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:151046014G>A	uc003eyv.2	-	1	851	c.830C>T	c.(829-831)cCa>cTa	p.P277L	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron	NM_176894	NP_795713	Q9BPV8	P2Y13_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 13 (P2RY13), mRNA.	277						integral to membrane|plasma membrane				biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			GTGAGTATATGGAACTCTGGC	0.368000														36			19		0	0	1	0	0
OR52A5	390054	broad.mit.edu	37	11	5153029	5153029	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:5153029G>A	uc010qyx.2	-	0	844	c.844C>T	c.(844-846)Ctt>Ttt	p.L282F		NM_001005160	NP_001005160	Q9H2C5	O52A5_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily A, member 5 (OR52A5), mRNA.	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		AACAGGTAAAGATTTGACAAG	0.383000														64			16		0	0	1	0	0
MCM10	55388	broad.mit.edu	37	10	13217513	13217513	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr10:13217513C>T	uc001ima.3	+	5	727	c.599C>T	c.(598-600)cCc>cTc	p.P200L	MCM10_uc001imb.3_Missense_Mutation_p.P199L|MCM10_uc001imc.3_Missense_Mutation_p.P199L	NM_182751	NP_877428	Q7L590	MCM10_HUMAN	Homo sapiens minichromosome maintenance complex component 10 (MCM10), transcript variant 1, mRNA.	200					DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|cell cycle checkpoint	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						TTTCTAGATCCCAAAAGCTCA	0.408000														61			18		0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128327434	128327434	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:128327434C>T	uc002top.3	+	5	594	c.541C>T	c.(541-543)Cag>Tag	p.Q181*		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	181	Myosin head-like.					apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CATCAGTGGCCAGCATTCGTG	0.627000														20			22		0	0	1	0	0
UGT2B17	7367	broad.mit.edu	37	4	69403366	69403366	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:69403366C>T	uc021xov.1	-	5	1613	c.1570G>A	c.(1570-1572)Gga>Aga	p.G524R		NM_001077	NP_001068	O75795	UDB17_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B17 (UGT2B17), mRNA.	524					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						TTCTTCTTTCCTGTTTTGGCA	0.408000														60			21		0	0	1	0	0
CHSY3	337876	broad.mit.edu	37	5	129240643	129240644	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:129240643_129240644GG>AA	uc003kvd.3	+	0	121_122	c.121_122GG>AA	c.(121-123)ggc>AAc	p.G41N		NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	Homo sapiens chondroitin sulfate synthase 3 (CHSY3), mRNA.	41						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		GAAGAGACGTGGCTCCAGCCTC	0.713000														8			4		0	0	1	0	0
TXNDC2	84203	broad.mit.edu	37	18	9886878	9886878	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr18:9886878C>T	uc002koi.4	+	1	851	c.402C>T	c.(400-402)ctC>ctT	p.L134L	TXNDC2_uc002koh.4_Silent_p.L67L|TXNDC2_uc021ugx.1_Silent_p.L67L	NM_001098529	NP_115619	Q86VQ3	TXND2_HUMAN	Homo sapiens thioredoxin domain containing 2 (spermatozoa) (TXNDC2), transcript variant 2, mRNA.	134	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						AGGAGGACCTCCCCAAGTCCT	0.542000														127			21		0	0	1	0	0
ADCY6	112	broad.mit.edu	37	12	49169833	49169834	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:49169833_49169834CC>TT	uc001rsh.4	-	7	2378_2379	c.1718_1719GG>AA	c.(1717-1719)cgg>cAA	p.R573Q	ADCY6_uc001rsi.4_Missense_Mutation_p.R573Q|ADCY6_uc001rsj.4_Missense_Mutation_p.R573Q|ADCY6_uc010slw.1_5'Flank	NM_015270	NP_056085	O43306	ADCY6_HUMAN	Homo sapiens adenylate cyclase 6 (ADCY6), transcript variant 1, mRNA.	573					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						TGGAGTTGGCCCGAGTCCGCTG	0.649000														22			4		0	0	1	0	0
OAS3	4940	broad.mit.edu	37	12	113405379	113405379	+	Missense_Mutation	SNP	T	G	G			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:113405379T>G	uc001tug.3	+	12	2933	c.2846T>G	c.(2845-2847)gTg>gGg	p.V949G		NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 3, 100kDa (OAS3), mRNA.	949	OAS domain 3.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|RNA binding|nucleotidyltransferase activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						ATCCGGCTGGTGAAGCACTGG	0.582000														25			6		0	0	1	0	0
PLEKHG6	55200	broad.mit.edu	37	12	6437012	6437012	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:6437012G>A	uc001qnr.3	+	14	2411	c.2263G>A	c.(2263-2265)Gag>Aag	p.E755K	PLEKHG6_uc010sew.2_Missense_Mutation_p.E755K|PLEKHG6_uc010sex.2_Missense_Mutation_p.E723K	NM_018173	NP_060643	Q3KR16	PKHG6_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 6 (PLEKHG6), transcript variant 1, mRNA.	755					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						TGAGGGGGCCGAGGAGCCCCG	0.657000														21			4		0	0	1	0	0
CYP4F11	57834	broad.mit.edu	37	19	16024612	16024612	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:16024612G>A	uc002nbu.2	-	12	1541	c.1505C>T	c.(1504-1506)cCc>cTc	p.P502L	CYP4F11_uc010eab.1_3'UTR|CYP4F11_uc002nbt.2_Missense_Mutation_p.P502L	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.	502					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	p.K501K(1)		NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						TATCAGCTCGGGTTTCCTGCG	0.632000														52			15		0	0	1	0	0
ATRN	8455	broad.mit.edu	37	20	3520922	3520922	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr20:3520922G>A	uc002wim.2	+	2	638	c.548G>A	c.(547-549)tGg>tAg	p.W183*	ATRN_uc002wil.2_Nonsense_Mutation_p.W183*|ATRN_uc021vzz.1_Nonsense_Mutation_p.W67*	NM_139321	NP_647537	O75882	ATRN_HUMAN	Homo sapiens attractin (ATRN), transcript variant 1, mRNA.	183	CUB.				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding	p.S182C(1)		breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						GAGTGTAGTTGGGACCATTTA	0.328000														210			58		0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11169017	11169017	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:11169017C>T	uc010dxp.3	+	31	4871	c.4511C>T	c.(4510-4512)cCc>cTc	p.P1504L	SMARCA4_uc010dxo.3_Missense_Mutation_p.P1536L|SMARCA4_uc002mqf.4_Missense_Mutation_p.P1504L|SMARCA4_uc010dxq.3_Missense_Mutation_p.P1471L|SMARCA4_uc010dxr.3_Missense_Mutation_p.P1470L|SMARCA4_uc002mqj.4_Missense_Mutation_p.P1474L|SMARCA4_uc010dxs.3_Missense_Mutation_p.P1473L|SMARCA4_uc002mqh.4_Missense_Mutation_p.P594L	NM_001128844	NP_003063	P51532	SMCA4_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA.	1504	Bromo.				chromatin remodeling|negative regulation of S phase of mitotic cell cycle|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nuclear chromatin	ATP binding|DNA binding|DNA-dependent ATPase activity|androgen receptor binding|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				ATCCGCAAGCCCGTGGACTTC	0.612000			"""F, N, Mis"""		NSCLC									58			9		0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80732864	80732864	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:80732864G>A	uc001szd.3	+	41	4849	c.4843G>A	c.(4843-4845)Gat>Aat	p.D1615N		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GGTAGAAGTGGATTCCATTGT	0.318000														31			3		0	0	1	0	0
IK	3550	broad.mit.edu	37	5	140038606	140038606	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:140038606G>A	uc003lgq.3	+	11	1143	c.1033G>A	c.(1033-1035)Gag>Aag	p.E345K	IK_uc021yen.1_Missense_Mutation_p.E286K|U7_uc021yeo.1_5'Flank	NM_006083	NP_006074	Q13123	RED_HUMAN	Homo sapiens IK cytokine, down-regulator of HLA II (IK), mRNA.	345	17 X 2 AA tandem repeats of R-[ED].				cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction				large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			tcgggaacgggagcgtgatcg	0.542000														62			8		0	0	1	0	0
LRRN3	54674	broad.mit.edu	37	7	110764323	110764323	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:110764323A>G	uc003vft.4	+	3	2541	c.1495A>G	c.(1495-1497)Act>Gct	p.T499A	IMMP2L_uc003vfq.2_Intron|IMMP2L_uc010ljr.2_Intron|IMMP2L_uc003vfr.3_Intron|LRRN3_uc003vfu.4_Missense_Mutation_p.T499A|LRRN3_uc003vfs.4_Missense_Mutation_p.T499A|LRRN3_uc022akc.1_Missense_Mutation_p.T499A	NM_001099660	NP_060804	Q9H3W5	LRRN3_HUMAN	Homo sapiens leucine rich repeat neuronal 3 (LRRN3), transcript variant 1, mRNA.	499	Ig-like C2-type.					integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		TTGTATAGCAACTAACCTAGT	0.378000														49			6		0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193032768	193032768	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:193032768C>T	uc011bsq.2	-	17	2151	c.2151G>A	c.(2149-2151)atG>atA	p.M717I		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	717					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TACCTGTAATCATCACAGTCC	0.423000														178			32		0	0	1	0	0
KCNJ18	100134444	broad.mit.edu	37	17	21318825	21318825	+	Silent	SNP	C	T	T	rs148773260		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:21318825C>T	uc021tss.1	+	2	541	c.171C>T	c.(169-171)ttC>ttT	p.F57F	KCNJ18_uc002gyv.1_Silent_p.F57F|KCNJ18_uc021tst.1_Silent_p.F57F	NM_001194958	NP_001181887	B7U540	IRK18_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 18 (KCNJ18), mRNA.	57						integral to membrane	inward rectifier potassium channel activity										ACATTGAGTTCGCCAACATGG	0.602000														86			6		0	0	1	0	0
PLEKHJ1	55111	broad.mit.edu	37	19	2234021	2234021	+	Missense_Mutation	SNP	G	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:2234021G>T	uc002lvf.1	-	4	1064	c.360C>A	c.(358-360)aaC>aaA	p.N120K	SF3A2_uc002lvg.3_5'Flank	NM_018049	NP_060519	Q9NW61	PKHJ1_HUMAN	Homo sapiens pleckstrin homology domain containing, family J member 1 (PLEKHJ1), mRNA.	120							protein binding			endometrium(1)|kidney(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCGGATTTCGTTCCTGTAGA	0.637000														257			49		6.4308e-24	6.50186e-24	1	1	0
CTAGE10P	220429	broad.mit.edu	37	13	50466962	50466962	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr13:50466962C>T	uc001vdk.2	+	0	2418	c.2236C>T	c.(2236-2238)Cca>Tca	p.P746S						Homo sapiens CTAGE family, member 10, pseudogene (CTAGE10P), non-coding RNA.																		ACCACGTGCTCCATTTGCAAT	0.527000														68			12		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8319882	8319882	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:8319882G>A	uc003zkk.3	-	44	6362	c.5619C>T	c.(5617-5619)ttC>ttT	p.F1873F	PTPRD_uc003zkp.3_Silent_p.F1467F|PTPRD_uc003zkq.3_Silent_p.F1466F|PTPRD_uc003zkr.3_Silent_p.F1457F|PTPRD_uc003zks.3_Silent_p.F1466F|PTPRD_uc022bdj.1_Silent_p.F1463F	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	1873	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TGACAGTCTGGAAGATATCTA	0.418000										TSP Lung(15;0.13)				47			6		0	0	1	0	0
REN	5972	broad.mit.edu	37	1	204129756	204129756	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:204129756C>T	uc001haq.2	-	3	468	c.424G>A	c.(424-426)Gga>Aga	p.G142R		NM_000537	NP_000528	P00797	RENI_HUMAN	Homo sapiens renin (REN), mRNA.	142					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	AGTTCTGTTCCATTGTGCTTG	0.562000														102			14		0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111696200	111696200	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:111696200G>A	uc003puy.4	-	12	3699	c.3358C>T	c.(3358-3360)Ccc>Tcc	p.P1120S	REV3L_uc003pux.4_Missense_Mutation_p.P1042S|REV3L_uc003puz.4_Missense_Mutation_p.P1042S	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	Homo sapiens REV3-like, catalytic subunit of DNA polymerase zeta (yeast) (REV3L), mRNA.	1120					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GAATTTATGGGACTTGTGCTT	0.438000								DNA polymerases (catalytic subunits)						96			10		0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175375845	175375845	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:175375845C>T	uc001gkp.1	-	0	87	c.6G>A	c.(4-6)ggG>ggA	p.G2G	TNR_uc009wwu.1_Silent_p.G2G|TNR_uc010pmz.1_Silent_p.G2G	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	2					axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CCCCATCTGCCCCCATCCTCT	0.532000														139			14		0	0	1	0	0
MNDA	4332	broad.mit.edu	37	1	158815404	158815404	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:158815404G>A	uc001fsz.1	+	4	798	c.598G>A	c.(598-600)Gtg>Atg	p.V200M		NM_002432	NP_002423	P41218	MNDA_HUMAN	Homo sapiens myeloid cell nuclear differentiation antigen (MNDA), mRNA.	200	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					CCAACGGCAGGTGGATGCAAG	0.507000														45			6		0	0	1	0	0
RPS4Y2	140032	broad.mit.edu	37	Y	22930724	22930724	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chrY:22930724G>A	uc011nbb.2	+	4	490	c.394G>A	c.(394-396)Ggg>Agg	p.G132R		NM_001039567	NP_001034656	Q8TD47	RS4Y2_HUMAN	Homo sapiens ribosomal protein S4, Y-linked 2 (RPS4Y2), mRNA.	132					translation	ribosome	rRNA binding|structural constituent of ribosome			lung(2)	2						GATTACTGTGGGGACAAAGGG	0.443000														34			21		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11687793	11687793	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:11687793C>T	uc002gne.3	+	40	8066	c.7998C>T	c.(7996-7998)ttC>ttT	p.F2666F	DNAH9_uc010coo.3_Silent_p.F1960F	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2666	AAA 3 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTACCACCTTCCTACCCACAG	0.522000														126			34		0	0	1	0	0
SLC5A8	160728	broad.mit.edu	37	12	101584379	101584379	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:101584379G>A	uc001thz.4	-	5	1090	c.700C>T	c.(700-702)Cct>Tct	p.P234S		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	Homo sapiens solute carrier family 5 (iodide transporter), member 8 (SLC5A8), mRNA.	234					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AAAGGGTTAGGATTAAAACTA	0.378000														27			4		0	0	1	0	0
DDHD2	23259	broad.mit.edu	37	8	38092070	38092070	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:38092070C>T	uc003xlc.3	+	2	579	c.379C>T	c.(379-381)Ccc>Tcc	p.P127S	DDHD2_uc003xla.2_Missense_Mutation_p.P127S|DDHD2_uc003xlb.3_Missense_Mutation_p.P127S|DDHD2_uc011lbl.1_5'UTR	NM_001164232	NP_056029	O94830	DDHD2_HUMAN	Homo sapiens DDHD domain containing 2 (DDHD2), transcript variant 2, mRNA.	127					lipid catabolic process	centrosome	hydrolase activity|metal ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			TAAGTATGTTCCCTACTCGGA	0.398000														117			34		0	0	1	0	0
OR9K2	441639	broad.mit.edu	37	12	55524480	55524480	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:55524480C>T	uc010spe.2	+	0	928	c.928C>T	c.(928-930)Cct>Tct	p.P310S		NM_001005243	NP_001005243	Q8NGE7	OR9K2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily K, member 2 (OR9K2), mRNA.	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						CATGTTGAATCCTTTGATTTA	0.358000														66			23		0	0	1	0	0
ITGA11	22801	broad.mit.edu	37	15	68617562	68617562	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:68617562C>T	uc010bib.3	-	17	2316	c.2229G>A	c.(2227-2229)gtG>gtA	p.V743V	ITGA11_uc002ari.3_Silent_p.V743V	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	Homo sapiens integrin, alpha 11 (ITGA11), mRNA.	743					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	p.Y742Y(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	TCACTGGCTTCACGTAGTCAG	0.582000														69			18		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	8995651	8995651	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:8995651C>T	uc002mkp.3	-	62	41541	c.41337G>A	c.(41335-41337)tcG>tcA	p.S13779S	MUC16_uc010dwi.3_Intron|MUC16_uc010dwj.3_Silent_p.S596S|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13781				Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGCCAAATATCGAGGCTGGAG	0.463000														32			6		0	0	1	0	0
ASB15	142685	broad.mit.edu	37	7	123264837	123264837	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:123264837C>T	uc003vku.1	+	7	958	c.666C>T	c.(664-666)caC>caT	p.H222H	ASB15_uc003vkv.1_Silent_p.H222H|ASB15_uc003vkw.1_Silent_p.H222H	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 15 (ASB15), mRNA.	222					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						AGTATGGTCACTGTGACGTGT	0.468000											OREG0018282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		39			13		0	0	1	0	0
HPS1	3257	broad.mit.edu	37	10	100195400	100195400	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr10:100195400G>A	uc021pwv.1	-	3	493	c.247C>T	c.(247-249)Ctt>Ttt	p.L83F	HPS1_uc009xwb.3_Non-coding_Transcript|HPS1_uc010qph.1_Missense_Mutation_p.L83F|HPS1_uc001kpl.3_Missense_Mutation_p.L83F	NM_000195	NP_000186	Q92902	HPS1_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 1 (HPS1), transcript variant 1, mRNA.	83					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		ACCAGGTGAAGGACATACAGG	0.527000									Hermansky-Pudlak syndrome					99			19		0	0	1	0	0
METTL19	152992	broad.mit.edu	37	4	8456500	8456500	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:8456500G>A	uc003glg.2	+	5	1181	c.1163G>A	c.(1162-1164)aGa>aAa	p.R388K	METTL19_uc003glf.1_Missense_Mutation_p.R147K|METTL19_uc003glh.1_5'UTR	NM_152544	NP_689757	Q8IYL2	TRM44_HUMAN	Homo sapiens methyltransferase like 19 (METTL19), transcript variant 2, mRNA.	388					tRNA processing	cytoplasm	methyltransferase activity|nucleic acid binding|zinc ion binding			kidney(1)|lung(6)|ovary(3)|prostate(1)	11						GTCCGAAGAAGAAAAATCTGG	0.398000														88			7		0	0	1	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161024188	161024188	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:161024188G>A	uc001fxl.3	-	4	850	c.504C>T	c.(502-504)aaC>aaT	p.N168N	ARHGAP30_uc001fxk.3_Silent_p.N168N|ARHGAP30_uc001fxm.3_Silent_p.N14N|ARHGAP30_uc009wtx.3_5'UTR|ARHGAP30_uc001fxn.1_Silent_p.N14N	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA.	168	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CGATGGCCAGGTTGCGAGCAT	0.597000														29			5		0	0	1	0	0
LSM3	27258	broad.mit.edu	37	3	14223144	14223144	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:14223144G>A	uc003byn.3	+	1	239	c.106G>A	c.(106-108)Gac>Aac	p.D36N	XPC_uc011ave.2_5'Flank|XPC_uc011avf.2_5'Flank|XPC_uc011avg.2_5'Flank	NM_014463	NP_055278	P62310	LSM3_HUMAN	Homo sapiens LSM3 homolog, U6 small nuclear RNA associated (S. cerevisiae) (LSM3), mRNA.	36					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	catalytic step 2 spliceosome|cytosol	RNA binding|protein binding			central_nervous_system(1)|large_intestine(2)|ovary(1)	4						AATGAGAAATGACCGAGAGCT	0.413000														107			28		0	0	1	0	0
LOC407835	407835	broad.mit.edu	37	7	128766635	128766635	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:128766635C>T	uc003voo.3	+	0	311	c.64C>T	c.(64-66)Ccg>Tcg	p.P22S						Homo sapiens mitogen-activated protein kinase kinase 2 pseudogene (LOC407835), non-coding RNA.																		CGCCGAGGGCCCGTCCCCAAC	0.697000														46			6		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858184	9858184	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:9858184C>T	uc010uym.2	-	13	3527	c.3217G>A	c.(3217-3219)Gaa>Aaa	p.E1073K	GRIN2A_uc002czo.4_Missense_Mutation_p.E1073K|GRIN2A_uc010uyn.2_Missense_Mutation_p.E916K|GRIN2A_uc002czr.4_Missense_Mutation_p.E1073K	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1073					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.E1073K(4)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TTGTCAGGTTCCCTGTGGCAC	0.502000														73			16		0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7725052	7725052	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:7725052C>T	uc001aoi.3	+	8	2652	c.2445C>T	c.(2443-2445)acC>acT	p.T815T		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	815					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CCCCCTTCACCCAGGCAGAGA	0.697000			T	WWTR1	epitheliod hemangioendothelioma									115			17		0	0	1	0	0
TGM5	9333	broad.mit.edu	37	15	43527773	43527773	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:43527773G>A	uc001zrd.2	-	9	1616	c.1608C>T	c.(1606-1608)ttC>ttT	p.F536F	TGM5_uc001zrc.2_Silent_p.F193F|TGM5_uc001zre.2_Silent_p.F454F	NM_201631	NP_963925	O43548	TGM5_HUMAN	Homo sapiens transglutaminase 5 (TGM5), transcript variant 1, mRNA.	536					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	TGAGGTCCTTGAACTGGGAGG	0.557000														71			15		0	0	1	0	0
TGM6	343641	broad.mit.edu	37	20	2378579	2378579	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr20:2378579C>T	uc002wfy.1	+	4	620	c.559C>T	c.(559-561)Ctg>Ttg	p.L187L	TGM6_uc010gal.1_Silent_p.L187L	NM_198994	NP_945345	O95932	TGM3L_HUMAN	Homo sapiens transglutaminase 6 (TGM6), transcript variant 1, mRNA.	187					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	GGAGGACATCCTGAACATCTG	0.602000														69			24		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71909780	71909780	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:71909780C>T	uc010fen.3	+	54	6435	c.6294C>T	c.(6292-6294)ttC>ttT	p.F2098F	DYSF_uc010fei.3_Silent_p.F2076F|DYSF_uc010feh.3_Silent_p.F2066F|DYSF_uc002sig.4_Silent_p.F2045F|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Silent_p.F2090F|DYSF_uc010fee.3_Silent_p.F2080F|DYSF_uc010fef.3_Silent_p.F2097F|DYSF_uc002sie.3_Silent_p.F2059F|DYSF_uc010feo.3_Silent_p.F2091F|DYSF_uc010fej.3_Silent_p.F2067F|DYSF_uc010fel.3_Silent_p.F2046F|DYSF_uc010fem.3_Silent_p.F2081F|DYSF_uc002sif.3_Silent_p.F2060F|DYSF_uc010fek.3_Silent_p.F2077F|DYSF_uc010yqy.2_Silent_p.F940F|DYSF_uc010yqz.2_Silent_p.F820F	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	2059						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TGCTGCTGTTCCTGGCCATCT	0.542000														36			10		0	0	1	0	0
OR9G4	283189	broad.mit.edu	37	11	56510965	56510965	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:56510965G>A	uc010rjo.2	-	0	323	c.323C>T	c.(322-324)tCc>tTc	p.S108F		NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 4 (OR9G4), mRNA.	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TCCAGCCAAGGAAATGCGCTT	0.458000														110			24		0	0	1	0	0
ARRDC1	92714	broad.mit.edu	37	9	140509073	140509073	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:140509073G>A	uc004cnp.2	+	6	932	c.858G>A	c.(856-858)gtG>gtA	p.V286V	ARRDC1_uc004cns.3_Silent_p.V286V|ARRDC1_uc004cnx.2_Silent_p.V161V			Q8N5I2	ARRD1_HUMAN	Homo sapiens arrestin domain containing 1 (ARRDC1), mRNA.	286										breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)		ATATTGCTGTGAACCATGCCC	0.672000														87			20		0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	68940120	68940120	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr10:68940120G>A	uc009xpn.1	-	6	1125	c.1002C>T	c.(1000-1002)gcC>gcT	p.A334A	CTNNA3_uc001jmw.2_Silent_p.A334A|CTNNA3_uc001jmx.4_Silent_p.A334A|CTNNA3_uc009xpo.1_Silent_p.A194A|CTNNA3_uc001jna.2_Silent_p.A346A	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	334					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	p.N333N(1)|p.A334T(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CCTGGCGAATGGCGTTGCATT	0.512000														37			13		0	0	1	0	0
IL3	3562	broad.mit.edu	37	5	131398014	131398014	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:131398014C>T	uc003kwe.1	+	2	267	c.214C>T	c.(214-216)Ctt>Ttt	p.L72F		NM_000588	NP_000579	P08700	IL3_HUMAN	Homo sapiens interleukin 3 (colony-stimulating factor, multiple) (IL3), mRNA.	72					cell-cell signaling|immune response|nervous system development|positive regulation of DNA replication|positive regulation of cell proliferation|positive regulation of survival gene product expression|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|growth factor activity|interleukin-3 receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)	10		all_cancers(142;7.42e-12)|Lung NSC(810;4.25e-07)|all_lung(232;1.93e-06)|Prostate(281;0.00741)|Breast(839;0.0544)|Lung SC(612;0.122)|Ovarian(839;0.223)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.0161)|Lung(113;0.105)	Amlexanox(DB01025)	GGAAAATAACCTTCGAAGGCC	0.488000														357			69		0	0	1	0	0
DAGLA	747	broad.mit.edu	37	11	61504698	61504698	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:61504698C>T	uc001nsa.3	+	13	1532	c.1416C>T	c.(1414-1416)tcC>tcT	p.S472S		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	Homo sapiens diacylglycerol lipase, alpha (DAGLA), mRNA.	472					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		TGGGCCACTCCCTGGGCGCGG	0.652000														236			43		0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155451411	155451411	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:155451411C>T	uc003qqb.3	+	5	2327	c.1054C>T	c.(1054-1056)Cag>Tag	p.Q352*	TIAM2_uc003qqe.3_Nonsense_Mutation_p.Q352*	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	352					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GGACCCCATCCAGTACAGTTC	0.547000														70			16		0	0	1	0	0
TMEM52	339456	broad.mit.edu	37	1	1849476	1849476	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:1849476C>T	uc001aij.2	-	4	511	c.475G>A	c.(475-477)Gaa>Aaa	p.E159K	TMEM52_uc001aii.2_Missense_Mutation_p.E144K	NM_178545	NP_848640	Q8NDY8	TMM52_HUMAN	Homo sapiens transmembrane protein 52 (TMEM52), mRNA.	159						integral to membrane				NS(1)|prostate(1)|stomach(1)	3	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TTGACAGCTTCATCGTAGGAG	0.642000														162			25		0	0	1	0	0
GPR63	81491	broad.mit.edu	37	6	97246360	97246360	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:97246360C>T	uc010kcl.3	-	2	1726	c.1248G>A	c.(1246-1248)cgG>cgA	p.R416R	GPR63_uc003pou.3_Silent_p.R416R|GPR63_uc021zcy.1_Silent_p.R416R	NM_001143957	NP_001137429	Q9BZJ6	GPR63_HUMAN	Homo sapiens G protein-coupled receptor 63 (GPR63), transcript variant 1, mRNA.	416						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	p.R416W(1)		kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		ACACCACCGTCCGATGTTCCC	0.448000														45			11		0	0	1	0	0
ATP7B	540	broad.mit.edu	37	13	52549278	52549278	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr13:52549278G>A	uc001vfw.2	-	1	235	c.78C>T	c.(76-78)acC>acT	p.T26T	ATP7B_uc001vfy.2_Silent_p.T26T|ATP7B_uc010adv.2_Silent_p.T26T|ATP7B_uc001vfx.2_Silent_p.T26T|ATP7B_uc010tgt.1_Silent_p.T26T|ATP7B_uc010tgu.1_Silent_p.T26T|ATP7B_uc010tgv.1_Silent_p.T26T|ATP7B_uc010tgw.1_5'UTR	NM_000053	NP_000044	P35670	ATP7B_HUMAN	Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA.	26					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		CCCAGGCACGGGTAGGCAAAG	0.428000									Wilson disease					47			9		0	0	1	0	0
PROS1	5627	broad.mit.edu	37	3	93598096	93598096	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:93598096C>T	uc003drb.4	-	12	1896	c.1555G>A	c.(1555-1557)Ggc>Agc	p.G519S	PROS1_uc010hoo.3_Missense_Mutation_p.G388S|PROS1_uc003dqz.4_Missense_Mutation_p.G388S	NM_000313	NP_000304	P07225	PROS_HUMAN	Homo sapiens protein S (alpha) (PROS1), mRNA.	519	Laminin G-like 2.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	Golgi lumen|Golgi membrane|endoplasmic reticulum membrane|extracellular region|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	ACACCAGTGCCCGTGGATGGA	0.428000														107			22		0	0	1	0	0
LRRC14B	389257	broad.mit.edu	37	5	194890	194890	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:194890T>C	uc003jal.1	+	1	995	c.967T>C	c.(967-969)Ttc>Ctc	p.F323L		NM_001080478	NP_001073947	A6NHZ5	LR14B_HUMAN	Homo sapiens leucine rich repeat containing 14B (LRRC14B), mRNA.	323										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	10						GGACATGGCCTTCTTGGCAGA	0.627000														32			5		0	0	1	0	0
ACTN2	88	broad.mit.edu	37	1	236890999	236890999	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:236890999C>T	uc001hyf.2	+	5	762	c.558C>T	c.(556-558)ctC>ctT	p.L186L	ACTN2_uc001hyg.2_5'UTR|ACTN2_uc009xgi.1_Silent_p.L186L	NM_001103	NP_001094	P35609	ACTN2_HUMAN	Homo sapiens actinin, alpha 2 (ACTN2), mRNA.	186	Actin-binding.|CH 2.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	Z disc|actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium	FATZ 1 binding|ZASP binding|actin binding|calcium ion binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin Z domain binding|titin binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GCCTTGGACTCTGTGCCCTCA	0.542000														83			19		0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	70598008	70598008	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:70598008G>A	uc003tvy.3	+	0	220	c.220G>A	c.(220-222)Gtg>Atg	p.V74M		NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	74						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GGAGGACATCGTGTACCGGCA	0.731000														14			4		0	0	1	0	0
KIAA1683	80726	broad.mit.edu	37	19	18377400	18377400	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:18377400G>A	uc010ebn.2	-	2	1166	c.950C>T	c.(949-951)cCt>cTt	p.P317L	KIAA1683_uc002nin.2_Missense_Mutation_p.P317L|KIAA1683_uc010xqe.1_Missense_Mutation_p.P271L	NM_001145304	NP_001138776	Q9H0B3	K1683_HUMAN	Homo sapiens KIAA1683 (KIAA1683), transcript variant 1, mRNA.	317						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TGCTTTCACAGGGCCCTGGGT	0.572000														96			11		0	0	1	0	0
DKK3	27122	broad.mit.edu	37	11	12029959	12029959	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:12029959C>T	uc010rcg.1	-	1	329	c.171G>A	c.(169-171)ctG>ctA	p.L57L	DKK3_uc010rcf.2_Silent_p.L57L|DKK3_uc001mju.3_Silent_p.L57L|DKK3_uc001mjv.3_Silent_p.L57L|DKK3_uc001mjw.3_Silent_p.L57L	NM_015881	NP_056965	Q9UBP4	DKK3_HUMAN	Homo sapiens dickkopf 3 homolog (Xenopus laevis) (DKK3), transcript variant 1, mRNA.	57					Wnt receptor signaling pathway|adrenal gland development|anatomical structure morphogenesis|negative regulation of aldosterone biosynthetic process|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cortisol biosynthetic process|negative regulation of transcription, DNA-dependent	extracellular space				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1)	8				Epithelial(150;0.000502)		TGTCCTCCATCAGTTCCTCAA	0.672000														28			7		0	0	1	0	0
GART	2618	broad.mit.edu	37	21	34876803	34876803	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr21:34876803G>A	uc002yrz.3	-	20	3068	c.2757C>T	c.(2755-2757)ctC>ctT	p.L919L	GART_uc002yrx.3_Silent_p.L919L|GART_uc010gmd.3_Silent_p.L581L|GART_uc002yry.3_Silent_p.L919L	NM_001136005	NP_001129478	P22102	PUR2_HUMAN	Homo sapiens phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase (GART), transcript variant 3, mRNA.	919	GART.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	TAAAAGAAGGGAGCAAGGATG	0.393000														70			9		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11672468	11672468	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:11672468C>T	uc002gne.3	+	37	7442	c.7374C>T	c.(7372-7374)atC>atT	p.I2458I	DNAH9_uc010coo.3_Silent_p.I1752I	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2458	AAA 3 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GTGAGACCATCCGTGTGTGCT	0.617000														128			23		0	0	1	0	0
SLC22A25	387601	broad.mit.edu	37	11	62951237	62951237	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:62951237C>T	uc001nwr.1	-	4	883	c.883G>A	c.(883-885)Ggc>Agc	p.G295S	SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Non-coding_Transcript|SLC22A25_uc001nwt.1_Missense_Mutation_p.G295S	NM_199352	NP_955384	Q6T423	S22AP_HUMAN	Homo sapiens solute carrier family 22, member 25 (SLC22A25), mRNA.	295					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						TCCTTTAAGCCCTCTTCTGGT	0.478000														88			19		0	0	1	0	0
HS3ST2	9956	broad.mit.edu	37	16	22826334	22826334	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:22826334C>T	uc002dli.3	+	0	475	c.403C>T	c.(403-405)Cga>Tga	p.R135*		NM_006043	NP_006034	Q9Y278	HS3S2_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 2 (HS3ST2), mRNA.	135						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		GGAGTTTATCCGAGTACACCC	0.637000														38			10		0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139396258	139396258	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:139396258G>A	uc004chz.3	-	29	5580	c.5580C>T	c.(5578-5580)ccC>ccT	p.P1860P		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	1860					Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGGGCGGTGTGGGGGCCATGG	0.677000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)				42			7		0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70890763	70890763	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:70890763C>T	uc021vjc.1	-	15	2240	c.1975G>A	c.(1975-1977)Gag>Aag	p.E659K	ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_3'UTR|ADD2_uc002sgz.3_Missense_Mutation_p.E659K	NM_001185054	NP_001608	P35612	ADDB_HUMAN	Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA.	659					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	F-actin capping protein complex|cytoplasm|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						AGGATTTCCTCTGCCGTCTGC	0.572000														141			27		0	0	1	0	0
UGT8	7368	broad.mit.edu	37	4	115585262	115585262	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:115585262C>T	uc003ibs.2	+	2	1456	c.934C>T	c.(934-936)Ctg>Ttg	p.L312L	UGT8_uc003ibt.2_Silent_p.L312L|UGT8_uc011cge.1_Non-coding_Transcript	NM_001128174	NP_003351	Q16880	CGT_HUMAN	Homo sapiens UDP glycosyltransferase 8 (UGT8), transcript variant 1, mRNA.	312					central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		GGCAGGAGCTCTGGGGAGATT	0.413000														48			19		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152276826	152276826	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:152276826C>T	uc001ezu.1	-	2	10572	c.10536G>A	c.(10534-10536)caG>caA	p.Q3512Q		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3512	Ser-rich.		Q -> R (in dbSNP:rs12407748).		keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCTGTCCGCCTGAGTGGAAG	0.562000									Ichthyosis					300			48		0	0	1	0	0
HAVCR2	84868	broad.mit.edu	37	5	156514297	156514297	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:156514297G>A	uc003lwk.2	-	6	976	c.722C>T	c.(721-723)tCt>tTt	p.S241F		NM_032782	NP_116171	Q8TDQ0	HAVR2_HUMAN	Homo sapiens hepatitis A virus cellular receptor 2 (HAVCR2), mRNA.	241						integral to membrane				cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTTGGCCAAAGAGATGAGGCT	0.443000														48			8		0	0	1	0	0
HSD17B4	3295	broad.mit.edu	37	5	118860945	118860945	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:118860945C>T	uc003ksj.3	+	17	1671	c.1538C>T	c.(1537-1539)cCc>cTc	p.P513L	HSD17B4_uc011cwh.2_Missense_Mutation_p.P495L|HSD17B4_uc011cwg.2_Missense_Mutation_p.P489L|HSD17B4_uc011cwi.2_Missense_Mutation_p.P538L|HSD17B4_uc003ksk.4_Missense_Mutation_p.P366L|HSD17B4_uc011cwj.2_Missense_Mutation_p.P366L|HSD17B4_uc010jcn.2_Missense_Mutation_p.P251L	NM_000414	NP_000405	P51659	DHB4_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 4 (HSD17B4), transcript variant 2, mRNA.	513	(3R)-3-hydroxydecanoyl-CoA binding (By similarity).|Enoyl-CoA hydratase 2.|MaoC-like.				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	GACTGGAATCCCTTACACATT	0.328000														30			8		0	0	1	0	0
TTC23	64927	broad.mit.edu	37	15	99768777	99768777	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:99768777G>A	uc002bur.3	-	3	672	c.141C>T	c.(139-141)ctC>ctT	p.L47L	TTC23_uc002bus.3_Silent_p.L47L|TTC23_uc002but.3_Silent_p.L47L|TTC23_uc002buu.3_Silent_p.L47L|TTC23_uc002buv.3_Silent_p.L47L|TTC23_uc002bux.3_Silent_p.L47L|TTC23_uc002buw.3_Silent_p.L47L|TTC23_uc010boq.3_Non-coding_Transcript|TTC23_uc002buy.3_Silent_p.L47L|TTC23_uc010bor.3_Silent_p.L47L|TTC23_uc002buz.2_Silent_p.L47L	NM_022905	NP_075056	Q5W5X9	TTC23_HUMAN	Homo sapiens tetratricopeptide repeat domain 23 (TTC23), transcript variant 2, mRNA.	47							binding			endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			TCTCTTCACAGAGGTGGAGTT	0.408000														20			11		0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63468140	63468140	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:63468140T>C	uc001xfx.3	-	3	393	c.342A>G	c.(340-342)atA>atG	p.I114M	KCNH5_uc001xfy.3_Missense_Mutation_p.I114M|KCNH5_uc001xfz.1_Missense_Mutation_p.I56M|KCNH5_uc001xga.3_Missense_Mutation_p.I56M	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	114	PAC.				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)		GTTCATTTCTTATTGGTGCAA	0.403000														37			5		0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1499897	1499897	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:1499897C>T	uc002qwr.3	+	11	2229	c.2143C>T	c.(2143-2145)Ccc>Tcc	p.P715S	TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Missense_Mutation_p.P715S|TPO_uc002qwx.3_Missense_Mutation_p.P658S|TPO_uc002qwu.3_Missense_Mutation_p.P658S|TPO_uc010yio.2_Missense_Mutation_p.P542S|TPO_uc010yip.2_Missense_Mutation_p.P715S|TPO_uc002qwy.1_Missense_Mutation_p.P55S|TPO_uc002qwz.3_Intron	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	715					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	p.F714F(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CGGCAAATTCCCCGAAGACTT	0.562000														28			9		0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32915326	32915326	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr13:32915326C>T	uc001uub.1	+	10	7061	c.6834C>T	c.(6832-6834)atC>atT	p.I2278I		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	2278					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AGCCCCTTATCTTAGTGGGTA	0.353000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)				87			20		0	0	1	0	0
ADRA2C	152	broad.mit.edu	37	4	3769559	3769559	+	Missense_Mutation	SNP	G	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:3769559G>T	uc003ghm.3	+	0	1264	c.1226G>T	c.(1225-1227)cGc>cTc	p.R409L		NM_000683	NP_000674	P18825	ADA2C_HUMAN	Homo sapiens adrenergic, alpha-2C-, receptor (ADRA2C), mRNA.	409					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	GGCATCTGCCGCGAGGCCTGC	0.597000														25			3		0.004672	0.00468337	1	1	0
HSPA13	6782	broad.mit.edu	37	21	15745972	15745972	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr21:15745972G>A	uc002yjt.3	-	4	1451	c.1382C>T	c.(1381-1383)cCc>cTc	p.P461L	HSPA13_uc011abx.2_Missense_Mutation_p.P253L	NM_006948	NP_008879	P48723	HSP13_HUMAN	Homo sapiens heat shock protein 70kDa family, member 13 (HSPA13), mRNA.	461						endoplasmic reticulum|microsome	ATP binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						ATGCTTATTGGGAATTTCTAA	0.413000														56			7		0	0	1	0	0
ZNF584	201514	broad.mit.edu	37	19	58928611	58928611	+	Missense_Mutation	SNP	T	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:58928611T>A	uc002qsp.3	+	3	1178	c.726T>A	c.(724-726)ttT>ttA	p.F242L	ZNF584_uc010yia.2_Non-coding_Transcript|ZNF584_uc010yib.2_3'UTR	NM_173548	NP_775819	Q8IVC4	ZN584_HUMAN	Homo sapiens zinc finger protein 584 (ZNF584), mRNA.	242					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271)		TAAAACCTTTTAAGTGTAGTG	0.468000														42			5		0	0	1	0	0
ODZ4	26011	broad.mit.edu	37	11	78443363	78443363	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:78443363G>A	uc001ozl.4	-	20	3599	c.3136C>T	c.(3136-3138)Cag>Tag	p.Q1046*		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1046					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						CTGGGTACCTGAATTTCCGGC	0.517000														47			7		0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25275005	25275005	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr13:25275005C>T	uc010aaa.3	+	12	2177	c.1844C>T	c.(1843-1845)cCc>cTc	p.P615L	ATP12A_uc001upp.3_Missense_Mutation_p.P609L	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	609					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	ATGATCGATCCCCCTCGGTCC	0.488000														74			17		0	0	1	0	0
OR1S1	219959	broad.mit.edu	37	11	57983187	57983187	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:57983187C>T	uc010rkc.2	+	0	971	c.971C>T	c.(970-972)tCc>tTc	p.S324F		NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily S, member 1 (OR1S1), mRNA.	324					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				AAAATTTCTTCCCTTTGATGC	0.413000														113			16		0	0	1	0	0
KRT79	338785	broad.mit.edu	37	12	53217744	53217744	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:53217744G>A	uc001sbb.3	-	5	1106	c.1073C>T	c.(1072-1074)aCc>aTc	p.T358I	KRT79_uc001sba.3_Missense_Mutation_p.T129I	NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN	Homo sapiens keratin 79 (KRT79), mRNA.	358	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTCGTTCTTGGTGTCCCGCAG	0.607000														55			21		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55534779	55534779	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:55534779C>T	uc003xsd.1	+	2	866	c.718C>T	c.(718-720)Cct>Tct	p.P240S	RP1_uc011ldy.1_Missense_Mutation_p.P240S	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	240					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ATACTTGCTTCCTGCTAGATT	0.463000														52			16		0	0	1	0	0
OR51F1	256892	broad.mit.edu	37	11	4790821	4790821	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:4790821G>A	uc010qyl.2	-	0	327	c.327C>T	c.(325-327)ttC>ttT	p.F109F		NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 1 (OR51F1), mRNA.	109						integral to membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		CCATAAAAGTGAATCCATGAA	0.428000														36			7		0	0	1	0	0
OR2F2	135948	broad.mit.edu	37	7	143632402	143632402	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:143632402C>T	uc011ktv.2	+	0	77	c.77C>T	c.(76-78)tCc>tTc	p.S26F		NM_001004685	NP_001004685	O95006	OR2F2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 2 (OR2F2), mRNA.	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					ACTCAGATATCCCTGTTTTCC	0.448000														249			38		0	0	1	0	0
TYW1B	441250	broad.mit.edu	37	7	72040539	72040539	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:72040539G>A	uc011kej.2	-	15	2107	c.1948C>T	c.(1948-1950)Ccc>Tcc	p.P650S	TYW1B_uc011keh.1_Intron|TYW1B_uc011kei.2_Missense_Mutation_p.P277S	NM_001145440	NP_001138912	Q6NUM6	TYW1B_HUMAN	Homo sapiens tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) (TYW1B), transcript variant 1, mRNA.	651					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										GTGTCCTTGGGATCAAAGCTT	0.403000														77			16		0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25464519	25464519	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr10:25464519C>T	uc001isj.3	+	0	230	c.170C>T	c.(169-171)tCc>tTc	p.S57F	LOC100128811_uc010qde.1_Intron	NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	57						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						GCCTCGGACTCCTCGGCTCCC	0.697000														32			7		0	0	1	0	0
DGAT2	84649	broad.mit.edu	37	11	75501281	75501281	+	Missense_Mutation	SNP	G	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:75501281G>T	uc001oxa.3	+	2	558	c.299G>T	c.(298-300)tGg>tTg	p.W100L	DGAT2_uc001oxb.3_Missense_Mutation_p.W57L	NM_032564	NP_115953	Q96PD7	DGAT2_HUMAN	Homo sapiens diacylglycerol O-acyltransferase 2 (DGAT2), transcript variant 1, mRNA.	100					glycerol metabolic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity			endometrium(3)|large_intestine(5)|lung(5)|prostate(2)|skin(2)	17	Ovarian(111;0.103)					ACTGATTGCTGGCTCATCGCT	0.557000														191			34		6.29468e-14	6.36033e-14	1	1	0
OR2G3	81469	broad.mit.edu	37	1	247769009	247769009	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:247769009G>A	uc010pyz.2	+	0	122	c.122G>A	c.(121-123)gGa>gAa	p.G41E		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 3 (OR2G3), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			ACCCTTGTGGGAAACTTCACC	0.448000														125			11		0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19520868	19520868	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:19520868G>A	uc003jgd.3	-	9	1944	c.1410C>T	c.(1408-1410)agC>agT	p.S470S	CDH18_uc011cnm.2_Silent_p.S470S|CDH18_uc003jgc.3_Silent_p.S470S|CDH18_uc021xwu.1_Silent_p.S470S	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	470	Cadherin 4.				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)					CTGTGACATGGCTCAGCAAAT	0.383000														140			34		0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163241233	163241233	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:163241233C>T	uc002uch.2	-	12	3156	c.2927G>A	c.(2926-2928)aGa>aAa	p.R976K		NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	976					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TATGTGCATTCTTCCTGAGGT	0.428000														51			21		0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138442315	138442315	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:138442315G>A	uc003ihe.4	-	3	3663	c.3276C>T	c.(3274-3276)atC>atT	p.I1092I	PCDH18_uc003ihf.4_Silent_p.I1084I|PCDH18_uc011cgz.2_Silent_p.I303I|PCDH18_uc003ihg.4_Silent_p.I871I|PCDH18_uc011cha.2_Silent_p.I272I	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	1092	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					AATTTTCAGGGATCTCCTCCA	0.483000														33			3		0	0	1	0	0
PLS1	5357	broad.mit.edu	37	3	142405184	142405184	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:142405184G>A	uc010huv.3	+	8	1106	c.947G>A	c.(946-948)gGa>gAa	p.G316E	PLS1_uc003euz.3_Missense_Mutation_p.G316E|PLS1_uc003eva.3_Missense_Mutation_p.G316E	NM_001145319	NP_002661	Q14651	PLSI_HUMAN	Homo sapiens plastin 1 (PLS1), transcript variant 1, mRNA.	316	Actin-binding 1.|CH 2.					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						GGGGAAGATGGACCTGCCATT	0.338000														136			23		0	0	1	0	0
SPATA20	64847	broad.mit.edu	37	17	48625796	48625796	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:48625796C>T	uc002ird.3	+	2	419	c.278C>T	c.(277-279)gCc>gTc	p.A93V	SPATA20_uc002irc.3_5'UTR|SPATA20_uc002ire.3_Missense_Mutation_p.A33V|SPATA20_uc002irf.3_Missense_Mutation_p.A77V|SPATA20_uc010wmv.1_Missense_Mutation_p.A77V|SPATA20_uc002irg.3_Non-coding_Transcript	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	Homo sapiens spermatogenesis associated 20 (SPATA20), mRNA.	77					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			CTACAACATGCCTACAATCCT	0.617000														47			5		0	0	1	0	0
NPAS4	266743	broad.mit.edu	37	11	66192534	66192534	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:66192534G>A	uc001ohx.1	+	6	2349	c.2173G>A	c.(2173-2175)Gaa>Aaa	p.E725K	NPAS4_uc010rpc.1_Missense_Mutation_p.E515K	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	725					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						TCCCAGTGAGGAATGGGGCTC	0.602000														86			10		0	0	1	0	0
OR7G1	125962	broad.mit.edu	37	19	9225965	9225965	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:9225965G>A	uc021uoi.1	-	0	475	c.475C>T	c.(475-477)Cag>Tag	p.Q159*	OR7G1_uc002mks.1_Nonsense_Mutation_p.Q159*	NM_001005192	NP_001005192	Q8NGA0	OR7G1_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 1 (OR7G1), mRNA.	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						ATCAGACTCTGAACCAGGGCA	0.478000														78			17		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137814349	137814349	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:137814349C>T	uc002tva.1	+	1	406	c.406C>T	c.(406-408)Cct>Tct	p.P136S	THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_Missense_Mutation_p.P26S	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.									p.H136Y(1)|p.H136H(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CCTTCAGCCTCCTACAGAACA	0.507000														124			86		0	0	1	0	0
HAPLN3	145864	broad.mit.edu	37	15	89424760	89424760	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:89424760C>T	uc002bnd.3	-	3	588	c.507G>A	c.(505-507)ctG>ctA	p.L169L	HAPLN3_uc002bnc.3_Silent_p.L107L|HAPLN3_uc002bne.3_Non-coding_Transcript	NM_178232	NP_839946	Q96S86	HPLN3_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 3 (HAPLN3), mRNA.	107	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)					AGCGGTGCCTCAGCCCGATGG	0.657000														97			19		0	0	1	0	0
SH2B1	25970	broad.mit.edu	37	16	28883292	28883292	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:28883292G>A	uc002dri.3	+	7	1940	c.1501G>A	c.(1501-1503)Gaa>Aaa	p.E501K	NPIPL1_uc010vct.2_Intron|SH2B1_uc010vdc.2_Missense_Mutation_p.E191K|SH2B1_uc002drj.3_Missense_Mutation_p.E501K|SH2B1_uc002drk.3_Missense_Mutation_p.E501K|SH2B1_uc002drl.3_Missense_Mutation_p.E501K|SH2B1_uc010vdd.2_Missense_Mutation_p.E165K|SH2B1_uc010vde.2_Missense_Mutation_p.E501K|SH2B1_uc002drm.3_Missense_Mutation_p.E501K	NM_001145795	NP_001139267	Q9NRF2	SH2B1_HUMAN	Homo sapiens SH2B adaptor protein 1 (SH2B1), transcript variant 1, mRNA.	501	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						GGACACTCCGGAAACAGCCAC	0.642000														70			23		0	0	1	0	0
ATCAY	85300	broad.mit.edu	37	19	3907802	3907802	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:3907802G>A	uc010xhz.2	+	5	930	c.447G>A	c.(445-447)acG>acA	p.T149T	ATCAY_uc002lyy.4_Silent_p.T143T|ATCAY_uc010dts.3_5'Flank			Q86WG3	ATCAY_HUMAN	Homo sapiens ataxia, cerebellar, Cayman type (ATCAY), mRNA.	143					transport		protein binding			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		ACGGCACGACGGAGGACGGCA	0.637000														84			16		0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126128661	126128661	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:126128661G>A	uc001uhe.1	+	5	1470	c.1462G>A	c.(1462-1464)Gaa>Aaa	p.E488K	TMEM132B_uc001uhf.1_5'UTR	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	488						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GAATGGGAAGGAAATGAAGAG	0.483000														81			12		0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	1005395	1005395	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:1005395C>T	uc021qss.1	+	23	7165	c.6522C>T	c.(6520-6522)atC>atT	p.I2174I	WNK1_uc001qio.4_Silent_p.I1914I|WNK1_uc021qst.1_Silent_p.I2166I|WNK1_uc001qip.4_Silent_p.I1666I|WNK1_uc001qir.4_Silent_p.I1087I	NM_001184985	NP_001171914	Q9H4A3	WNK1_HUMAN	Homo sapiens WNK lysine deficient protein kinase 1 (WNK1), transcript variant 4, mRNA.	1914					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)			GCATAACCATCCCTGGTATCT	0.498000														52			11		0	0	1	0	0
ARSJ	79642	broad.mit.edu	37	4	114824382	114824382	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:114824382C>T	uc003ibq.1	-	1	1736	c.848G>A	c.(847-849)cGa>cAa	p.R283Q	ARSJ_uc010imu.1_Missense_Mutation_p.R283Q|ARSJ_uc010imv.1_Missense_Mutation_p.R111Q	NM_024590	NP_078866	Q5FYB0	ARSJ_HUMAN	Homo sapiens arylsulfatase family, member J (ARSJ), mRNA.	283						extracellular region	arylsulfatase activity|metal ion binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		GATAATGGATCGGTAGTGTTC	0.413000														73			26		0	0	1	0	0
CPA3	1359	broad.mit.edu	37	3	148596241	148596241	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:148596241G>A	uc003ewm.3	+	3	335	c.283G>A	c.(283-285)Gat>Aat	p.D95N		NM_001870	NP_001861	P15088	CBPA3_HUMAN	Homo sapiens carboxypeptidase A3 (mast cell) (CPA3), mRNA.	95					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			CTTGATTCATGATCTACAAGA	0.338000														79			18		0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48592750	48592750	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:48592750G>A	uc003gyh.1	-	16	2038	c.1433C>T	c.(1432-1434)cCc>cTc	p.P478L	FRYL_uc003gyk.3_Missense_Mutation_p.P478L	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	478					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						ATTTCCTGAGGGAAGAATAAC	0.363000														75			9		0	0	1	0	0
MDGA1	266727	broad.mit.edu	37	6	37606323	37606323	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:37606323C>T	uc003onu.1	-	14	3836	c.2657G>A	c.(2656-2658)gGg>gAg	p.G886E	MDGA1_uc003onv.1_Missense_Mutation_p.G155E	NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 1 (MDGA1), mRNA.	886	MAM.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						CTGGAAGGGCCCACTGGGGCT	0.622000														86			17		0	0	1	0	0
OR9A2	135924	broad.mit.edu	37	7	142723868	142723868	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:142723868G>A	uc003wcc.1	-	0	352	c.352C>T	c.(352-354)Cgt>Tgt	p.R118C		NM_001001658	NP_001001658	Q8NGT5	OR9A2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 2 (OR9A2), mRNA.	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					GCCACATAACGGTCCACAGCC	0.448000														54			45		0	0	1	0	0
GABRA3	2556	broad.mit.edu	37	X	151358362	151358362	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chrX:151358362G>A	uc010ntk.1	-	8	1223	c.983C>T	c.(982-984)tCc>tTc	p.S328F		NM_000808	NP_000799	P34903	GBRA3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 3 (GABRA3), mRNA.	328					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding	p.S328F(2)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTTAGGTAAGGAATTTCTGGC	0.458000														19			8		0	0	1	0	0
GPRC6A	222545	broad.mit.edu	37	6	117130604	117130604	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:117130604C>T	uc003pxj.1	-	1	393	c.371G>A	c.(370-372)aGa>aAa	p.R124K	GPRC6A_uc003pxk.1_Missense_Mutation_p.R124K|GPRC6A_uc003pxl.1_Missense_Mutation_p.R124K	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	124					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		CACAGTTTCTCTGGAGCAGTT	0.448000														42			4		0	0	1	0	0
PTGDR	5729	broad.mit.edu	37	14	52735319	52735319	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:52735319C>T	uc001wzq.3	+	0	889	c.787C>T	c.(787-789)Cac>Tac	p.H263Y		NM_000953	NP_000944	Q13258	PD2R_HUMAN	Homo sapiens prostaglandin D2 receptor (DP) (PTGDR), mRNA.	263						integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	GGAGCTGGATCACCTCCTGCT	0.687000														200			51		0	0	1	0	0
OVGP1	5016	broad.mit.edu	37	1	111966312	111966312	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:111966312G>A	uc001eba.3	-	4	392	c.336C>T	c.(334-336)tcC>tcT	p.S112S	OVGP1_uc001eaz.3_Silent_p.S74S|OVGP1_uc010owb.2_5'UTR|OVGP1_uc010owc.1_Silent_p.S102S	NM_002557	NP_002548	Q12889	OVGP1_HUMAN	Homo sapiens oviductal glycoprotein 1, 120kDa (OVGP1), mRNA.	112					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		TGGCAAATGTGGACAACATAG	0.443000														84			12		0	0	1	0	0
KCNA5	3741	broad.mit.edu	37	12	5154998	5154998	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:5154998C>T	uc001qni.3	+	0	1914	c.1685C>T	c.(1684-1686)tCc>tTc	p.S562F		NM_002234	NP_002225	P22460	KCNA5_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 5 (KCNA5), mRNA.	562						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						AGCAGGGGATCCTTCTGCAAG	0.642000														33			5		0	0	1	0	0
TMEM236	653567	broad.mit.edu	37	10	18060348	18060348	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr10:18060348C>T	uc009xjy.3	+	1	358	c.314C>T	c.(313-315)tCc>tTc	p.S105F	TMEM236_uc010qci.2_Missense_Mutation_p.S31F	NM_001098844	NP_001092314	Q5W0B7	TM236_HUMAN	Homo sapiens transmembrane protein 236 (TMEM236), mRNA.	105						integral to membrane				urinary_tract(1)	1						CTCACCTTTTCCATAGCAGTG	0.403000														17			13		0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31267601	31267601	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:31267601C>T	uc003jhe.2	+	1	381	c.21C>T	c.(19-21)ttC>ttT	p.F7F	CDH6_uc003jhd.2_Silent_p.F7F	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	7					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ACCGCTACTTCTTGCTGCTCT	0.537000														77			17		0	0	1	0	0
SLC6A4	6532	broad.mit.edu	37	17	28544283	28544283	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:28544283C>T	uc002hey.4	-	5	1282	c.738G>A	c.(736-738)caG>caA	p.Q246Q		NM_001045	NP_001036	P31645	SC6A4_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 (SLC6A4), mRNA.	246					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	Rab GTPase binding|actin filament binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	CCCCCAGGTCCTGGAGCCCCT	0.587000														98			23		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65240022	65240022	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:65240022C>T	uc001xht.3	-	23	5145	c.5094G>A	c.(5092-5094)gaG>gaA	p.E1698E	SPTB_uc001xhr.3_Silent_p.E1698E|SPTB_uc001xhs.3_Silent_p.E1698E|SPTB_uc001xhu.3_Silent_p.E1698E|SPTB_uc010aqi.3_Silent_p.E359E	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	1698					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GGTCGTCGGTCTCCCGCTTGA	0.572000														76			14		0	0	1	0	0
LMNB2	84823	broad.mit.edu	37	19	2431606	2431606	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:2431606C>T	uc002lvy.3	-	10	1788	c.1701G>A	c.(1699-1701)gaG>gaA	p.E567E		NM_032737	NP_116126	Q03252	LMNB2_HUMAN	Homo sapiens lamin B2 (LMNB2), mRNA.	567	Tail.					nuclear inner membrane	structural molecule activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCCCCATTCTCATTCTCAC	0.622000														225			39		0	0	1	0	0
HOXC13	3229	broad.mit.edu	37	12	54338879	54338879	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:54338879G>A	uc001sei.3	+	1	947	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K		NM_017410	NP_059106	P31276	HXC13_HUMAN	Homo sapiens homeobox C13 (HOXC13), mRNA.	278						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(1)|skin(1)	3						GCTAGAGAAGGAATACGCGGC	0.612000			T	NUP98	AML									112			27		0	0	1	0	0
ADAR	103	broad.mit.edu	37	1	154573527	154573527	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:154573527G>A	uc001ffh.3	-	1	1833	c.1591C>T	c.(1591-1593)Cat>Tat	p.H531Y	ADAR_uc021pag.1_Missense_Mutation_p.H236Y|ADAR_uc001ffj.3_Missense_Mutation_p.H531Y|ADAR_uc001ffi.3_Missense_Mutation_p.H531Y|ADAR_uc001ffk.3_Missense_Mutation_p.H236Y|ADAR_uc001ffl.1_Missense_Mutation_p.H236Y	NM_001111	NP_001180424	P55265	DSRAD_HUMAN	Homo sapiens adenosine deaminase, RNA-specific (ADAR), transcript variant 1, mRNA.	531	DRBM 1.				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		CGAGGTTCATGGGGTGGTCCA	0.527000														154			18		0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238245121	238245121	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:238245121C>T	uc002vwl.2	-	39	8907	c.8622G>A	c.(8620-8622)acG>acA	p.T2874T	COL6A3_uc002vwo.2_Silent_p.T2668T|COL6A3_uc010znj.1_Silent_p.T2267T|COL6A3_uc002vwj.2_Silent_p.T255T	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	2874	Nonhelical region.|Thr-rich.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TCACCGGCTTCGTTGTCGTCA	0.433000														131			84		0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120976074	120976074	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:120976074C>T	uc003eec.4	+	16	1866	c.1726C>T	c.(1726-1728)Ccg>Tcg	p.P576S	STXBP5L_uc011bji.2_Missense_Mutation_p.P576S	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	576					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		p.P576L(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AACAAGTCCTCCGTTTCCAGA	0.388000														91			26		0	0	1	0	0
HAL	3034	broad.mit.edu	37	12	96388721	96388721	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:96388721C>T	uc001tem.1	-	2	595	c.298G>A	c.(298-300)Gga>Aga	p.G100R	HAL_uc010sux.1_Missense_Mutation_p.G100R|HAL_uc009zti.1_Non-coding_Transcript|HAL_uc010suw.1_5'UTR	NM_002108	NP_002099	P42357	HUTH_HUMAN	Homo sapiens histidine ammonia-lyase (HAL), mRNA.	100					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	AGATAAACTCCTTCTGGTTGA	0.493000														75			28		0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76912662	76912662	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:76912662C>T	uc001oyb.2	+	35	5294	c.5022C>T	c.(5020-5022)acC>acT	p.T1674T	MYO7A_uc010rsm.1_Silent_p.T1625T|MYO7A_uc001oyc.2_Silent_p.T1636T|MYO7A_uc009yus.1_Non-coding_Transcript|MYO7A_uc009yut.1_Silent_p.T846T|MYO7A_uc001oye.2_5'Flank	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	1674					actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	ATP binding|actin binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CCACTGTCACCATGCCACCGC	0.592000														63			18		0	0	1	0	0
ZNF773	374928	broad.mit.edu	37	19	58016682	58016682	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:58016682C>T	uc002qox.3	+	2	316	c.176C>T	c.(175-177)tCc>tTc	p.S59F	ZNF773_uc002qoy.3_Missense_Mutation_p.S58F|ZNF773_uc021vcl.1_Missense_Mutation_p.S59F	NM_198542	NP_940944	Q6PK81	ZN773_HUMAN	Homo sapiens zinc finger protein 773 (ZNF773), mRNA.	59	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		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;0.0254)		CTTGCATCTTCCAAGACCCAT	0.483000														54			8		0	0	1	0	0
KIAA1161	57462	broad.mit.edu	37	9	34371687	34371687	+	Silent	SNP	A	G	G			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:34371687A>G	uc003zue.4	-	2	1419	c.1252T>C	c.(1252-1254)Tta>Cta	p.L418L		NM_020702	NP_065753	Q6NSJ0	K1161_HUMAN	Homo sapiens KIAA1161 (KIAA1161), mRNA.	419					carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		AGCGCAGGTAACCGGCCCGTG	0.682000														13			3		0	0	1	0	0
SH3GLB1	51100	broad.mit.edu	37	1	87208012	87208012	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:87208012C>T	uc001dly.3	+	8	1300	c.970C>T	c.(970-972)Cct>Tct	p.P324S	SH3GLB1_uc001dlw.3_Missense_Mutation_p.P295S|SH3GLB1_uc001dlz.3_Missense_Mutation_p.P195S|SH3GLB1_uc001dlx.3_Missense_Mutation_p.P316S	NM_001206651	NP_001193580	Q9Y371	SHLB1_HUMAN	Homo sapiens SH3-domain GRB2-like endophilin B1 (SH3GLB1), transcript variant 2, mRNA.	295	SH3.				anti-apoptosis|filopodium assembly|signal transduction	Golgi membrane|mitochondrial outer membrane	SH3 domain binding|cytoskeletal adaptor activity|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|stomach(1)	11		Lung NSC(277;0.209)		all cancers(265;0.0136)|Epithelial(280;0.0414)		AATCACCTCTCCTTCCAACCT	0.448000														47			8		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141805639	141805639	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:141805639G>A	uc003vwy.3	+	47	5576	c.5522G>A	c.(5521-5523)aGa>aAa	p.R1841K		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1841					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GTGACTGACAGAAACATCAGC	0.368000														112			7		0	0	1	0	0
ZNF675	171392	broad.mit.edu	37	19	23837302	23837302	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:23837302G>A	uc002nri.3	-	3	615	c.433C>T	c.(433-435)Caa>Taa	p.Q145*		NM_138330	NP_612203	Q8TD23	ZN675_HUMAN	Homo sapiens zinc finger protein 675 (ZNF675), mRNA.	145					I-kappaB kinase/NF-kappaB cascade|bone resorption|cytokine-mediated signaling pathway|hemopoiesis|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TTATCACATTGAAACATTTTG	0.303000														28			10		0	0	1	0	0
GPR77	27202	broad.mit.edu	37	19	47844800	47844800	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:47844800C>T	uc002pgk.1	+	1	815	c.744C>T	c.(742-744)ccC>ccT	p.P248P	GPR77_uc010ela.1_Silent_p.P248P|GPR77_uc021uwn.1_Silent_p.P248P	NM_018485	NP_060955	Q9P296	C5ARL_HUMAN	Homo sapiens G protein-coupled receptor 77 (GPR77), mRNA.	248					chemotaxis	integral to membrane|plasma membrane	C5a anaphylatoxin receptor activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(25;1.72e-06)|all_lung(116;2.15e-05)|all_epithelial(76;3.44e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.0652)|Ovarian(192;0.086)		all cancers(93;0.000129)|OV - Ovarian serous cystadenocarcinoma(262;0.000415)|Epithelial(262;0.0109)|GBM - Glioblastoma multiforme(486;0.0138)		GCTGGGCACCCTACCACCTGC	0.701000														58			15		0	0	1	0	0
OR52H1	390067	broad.mit.edu	37	11	5566399	5566399	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:5566399C>T	uc010qzh.2	-	0	355	c.355G>A	c.(355-357)Gat>Aat	p.D119N	HBG1_uc001mak.1_Intron	NM_001005289	NP_001005289	Q8NGJ2	O52H1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily H, member 1 (OR52H1), mRNA.	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGGCTGAATCCAGGACAAAG	0.448000														78			16		0	0	1	0	0
TTC16	158248	broad.mit.edu	37	9	130488642	130488642	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:130488642G>A	uc004brq.1	+	9	1451	c.1384G>A	c.(1384-1386)Gat>Aat	p.D462N	PTRH1_uc011mah.2_5'Flank|TTC16_uc011mai.1_Missense_Mutation_p.D449N|TTC16_uc004brr.1_Silent_p.R359R|TTC16_uc010mxn.1_Missense_Mutation_p.D58N	NM_144965	NP_659402	Q8NEE8	TTC16_HUMAN	Homo sapiens tetratricopeptide repeat domain 16 (TTC16), mRNA.	462							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						GGCCCGCCAGGATGTGGCCAC	0.602000														61			15		0	0	1	0	0
SNAP91	9892	broad.mit.edu	37	6	84371276	84371276	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:84371276C>T	uc021zcf.1	-	3	427	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K	SNAP91_uc003pka.3_Missense_Mutation_p.E133K|SNAP91_uc011dze.2_Missense_Mutation_p.E133K|SNAP91_uc003pkc.3_Missense_Mutation_p.E133K|SNAP91_uc003pkd.3_Missense_Mutation_p.E133K|SNAP91_uc003pkb.3_Missense_Mutation_p.E98K|SNAP91_uc011dzf.1_Missense_Mutation_p.E14K	NM_014841	NP_055656	O60641	AP180_HUMAN	Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA.	133	ENTH.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		AAAGCCTTTTCATTCAAATAT	0.328000														34			5		0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50531857	50531857	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr10:50531857G>A	uc021pqb.1	+	0	1267	c.1267G>A	c.(1267-1269)Gaa>Aaa	p.E423K	C10orf71_uc021pqa.1_Missense_Mutation_p.E422K|C10orf71_uc021pqc.1_Missense_Mutation_p.E423K	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	423										endometrium(1)	1						ACAGTTTTCAGAAAACAATGC	0.458000														67			17		0	0	1	0	0
C2orf61	285051	broad.mit.edu	37	2	47378648	47378648	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:47378648G>A	uc010yog.2	-	2	275	c.148C>T	c.(148-150)Cct>Tct	p.P50S	C2orf61_uc010fbd.3_Non-coding_Transcript|C2orf61_uc002rvs.2_Missense_Mutation_p.P50S	NM_001163561	NP_001157033	Q8N801	CB061_HUMAN	Homo sapiens chromosome 2 open reading frame 61 (C2orf61), transcript variant 1, mRNA.	50								p.0?(2)		endometrium(1)|kidney(1)|lung(2)	4		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			CCAGGTATAGGAGTATCCTGT	0.363000														82			9		0	0	1	0	0
OR1F1	4992	broad.mit.edu	37	16	3254364	3254364	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:3254364C>T	uc010uwu.2	+	0	118	c.118C>T	c.(118-120)Ctg>Ttg	p.L40L		NM_012360	NP_036492	O43749	OR1F1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily F, member 1 (OR1F1), mRNA.	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						GGCCACTGTCCTGGGGAACCT	0.557000														97			10		0	0	1	0	0
ANXA6	309	broad.mit.edu	37	5	150519721	150519721	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:150519721C>T	uc003ltl.2	-	2	330	c.102G>A	c.(100-102)aaG>aaA	p.K34K	ANXA6_uc011dcp.2_Silent_p.K2K|ANXA6_uc003lto.2_5'UTR	NM_001155	NP_001180473	P08133	ANXA6_HUMAN	Homo sapiens annexin A6 (ANXA6), transcript variant 1, mRNA.	34						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACCAAAGCCCTTCATGGCAG	0.567000														37			11		0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157926687	157926687	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:157926687C>T	uc003wno.3	-	8	1359	c.1238G>A	c.(1237-1239)gGa>gAa	p.G413E	PTPRN2_uc003wnp.3_Missense_Mutation_p.G396E|PTPRN2_uc003wnq.3_Missense_Mutation_p.G413E|PTPRN2_uc003wnr.3_Missense_Mutation_p.G375E|PTPRN2_uc011kwa.2_Missense_Mutation_p.G436E	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	413						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GGGGAGGGCTCCAGGTAAGAG	0.607000														91			23		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140222919	140222919	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:140222919G>A	uc003lhs.2	+	0	2013	c.2013G>A	c.(2011-2013)gaG>gaA	p.E671E	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Silent_p.E671E	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	682	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTGGTGGAGAGCGGCCAGG	0.632000														99			22		0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44555703	44555703	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:44555703T>C	uc003tlb.3	-	17	3750	c.3694A>G	c.(3694-3696)Acc>Gcc	p.T1232A	NPC1L1_uc011kbw.2_Missense_Mutation_p.T1159A|NPC1L1_uc003tlc.3_Missense_Mutation_p.T1205A|NPC1L1_uc003tla.3_Intron	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	1232					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)	ATAGAGATGGTGGCCTCTTTG	0.627000														21			3		0	0	1	0	0
CYP4F8	11283	broad.mit.edu	37	19	15740024	15740024	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:15740024C>T	uc002nbi.3	+	13	1480	c.1416C>T	c.(1414-1416)ttC>ttT	p.F472F	CYP4F8_uc010xoj.2_Silent_p.F285F	NM_007253	NP_009184	P98187	CP4F8_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 8 (CYP4F8), mRNA.	473					prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						GGCAGAAGTTCGCGATGGCAG	0.657000														19			3		0	0	1	0	0
TAS2R39	259285	broad.mit.edu	37	7	142880600	142880600	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:142880600C>T	uc011ksw.2	+	0	89	c.89C>T	c.(88-90)tCg>tTg	p.S30L		NM_176881	NP_795362	P59534	T2R39_HUMAN	Homo sapiens taste receptor, type 2, member 39 (TAS2R39), mRNA.	30					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					AGTGAATTGTCGCCATTTCTC	0.418000														44			7		0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	102124506	102124506	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:102124506C>T	uc003pqp.4	+	3	843	c.550C>T	c.(550-552)Cgt>Tgt	p.R184C	GRIK2_uc021zdj.1_Missense_Mutation_p.R184C|GRIK2_uc003pqn.3_Missense_Mutation_p.R184C|GRIK2_uc010kcw.3_Missense_Mutation_p.R184C|GRIK2_uc003pqo.4_Missense_Mutation_p.R184C|GRIK2_uc021zdk.1_Missense_Mutation_p.R184C|GRIK2_uc021zdl.1_Non-coding_Transcript	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 2 (GRIK2), transcript variant 1, mRNA.	184					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	AGGTCTCATTCGTTTGCAAGA	0.313000														22			3		0	0	1	0	0
OR1J2	26740	broad.mit.edu	37	9	125273980	125273980	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:125273980C>T	uc011lyv.2	+	0	900	c.900C>T	c.(898-900)gcC>gcT	p.A300A	OR1J2_uc004bmj.2_Silent_p.A300A	NM_054107	NP_473448	Q8NGS2	OR1J2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 2 (OR1J2), mRNA.	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						TGAAAGAGGCCCTTGGGAAAC	0.393000														45			11		0	0	1	0	0
HNRNPR	10236	broad.mit.edu	37	1	23650088	23650088	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:23650088G>A	uc001bgr.4	-	5	795	c.636C>T	c.(634-636)acC>acT	p.T212T	HNRNPR_uc010odw.2_Silent_p.T174T|HNRNPR_uc009vql.3_Silent_p.T73T|HNRNPR_uc001bgp.4_Silent_p.T212T|HNRNPR_uc001bgs.4_Silent_p.T111T|HNRNPR_uc009vqk.3_Silent_p.T111T|HNRNPR_uc010odx.2_Intron	NM_005826	NP_001095867	O43390	HNRPR_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein R (HNRNPR), transcript variant 2, mRNA.	212	RRM 1.					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|nucleotide binding|protein binding	p.I211V(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		TTCCACAGAAGGTGATAAATG	0.433000														112			22		0	0	1	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55331325	55331325	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:55331325C>T	uc002qhl.4	+	3	576	c.513C>T	c.(511-513)atC>atT	p.I171I	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc021vbm.1_Silent_p.I171I|KIR3DL2_uc010esf.3_Silent_p.I76I|KIR3DL2_uc021vbo.1_Silent_p.I171I|KIR3DL2_uc002qhk.4_Silent_p.I171I			P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA.	171	Ig-like C2-type 2.				cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		TTGGACAGATCCATGATGGGG	0.512000														218			44		0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51175194	51175194	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:51175194C>T	uc021tif.1	-	1	970	c.648G>A	c.(646-648)gtG>gtA	p.V216V	SALL1_uc021tid.1_Silent_p.V216V|SALL1_uc021tie.1_Silent_p.V313V|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	313					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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)			GTAGCTGTTTCACACCACTAA	0.537000														122			30		0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11111118	11111118	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:11111118G>A	uc003jfa.1	-	13	2460	c.2315C>T	c.(2314-2316)tCg>tTg	p.S772L	CTNND2_uc010itt.2_Missense_Mutation_p.S681L|CTNND2_uc011cmy.1_Missense_Mutation_p.S435L|CTNND2_uc011cmz.1_Missense_Mutation_p.S339L|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.S339L	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	772					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						CAGCCGGTACGAGAGGTTCCT	0.537000														92			15		0	0	1	0	0
CD1C	911	broad.mit.edu	37	1	158259858	158259858	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:158259858C>T	uc001fru.3	+	0	296	c.4C>T	c.(4-6)Ctg>Ttg	p.L2L	CD1C_uc021pbl.1_5'Flank	NM_001765	NP_001756	P29017	CD1C_HUMAN	Homo sapiens CD1c molecule (CD1C), mRNA.	2					T cell activation involved in immune response|antigen processing and presentation	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	p.M1L(1)		NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					AAATGACATGCTGTTTCTGCA	0.438000														73			18		0	0	1	0	0
SBF2	81846	broad.mit.edu	37	11	10015506	10015506	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:10015506G>A	uc001mib.2	-	9	1153	c.1015C>T	c.(1015-1017)Cct>Tct	p.P339S	SBF2_uc001mif.3_Missense_Mutation_p.P95S	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	Homo sapiens SET binding factor 2 (SBF2), mRNA.	339					myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CGTGGAGGAGGAAAAGCATGA	0.294000														47			5		0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31895563	31895563	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:31895563T>C	uc011dor.2	+	0	298	c.34T>C	c.(34-36)Ttc>Ctc	p.F12L	CFB_uc003nyc.2_Intron|CFB_uc011doo.2_Intron|CFB_uc011dop.2_Intron|CFB_uc003nye.4_Missense_Mutation_p.F12L|CFB_uc003nyf.3_Missense_Mutation_p.F12L|CFB_uc010jtk.3_Missense_Mutation_p.F12L|CFB_uc011doq.2_5'UTR	NM_001710	NP_001701	P00751	CFAB_HUMAN	Homo sapiens complement factor B (CFB), mRNA.	0					complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						TTGCCTGCTGTTCCTGTACCC	0.572000														310			73		0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4281441	4281441	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:4281441C>T	uc003smx.3	+	42	6286	c.6147C>T	c.(6145-6147)acC>acT	p.T2049T	SDK1_uc010kso.3_Silent_p.T1305T|SDK1_uc003smy.3_Silent_p.T536T|SDK1_uc003smz.3_Silent_p.T109T	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	2049					cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GGATCTCCACCATGGAGGAGT	0.602000														46			13		0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150445225	150445225	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:150445225C>T	uc009wlr.3	+	10	4002	c.3801C>T	c.(3799-3801)ttC>ttT	p.F1267F	RPRD2_uc010pcc.1_3'UTR|RPRD2_uc001eup.4_Silent_p.F1241F	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Homo sapiens regulation of nuclear pre-mRNA domain containing 2 (RPRD2), mRNA.	1267	Pro-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GAATTCCTTTCCCTACCCCAC	0.612000														122			20		0	0	1	0	0
B3GNTL1	146712	broad.mit.edu	37	17	81006361	81006361	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:81006361G>A	uc002kgg.1	-	2	277	c.263C>T	c.(262-264)cCc>cTc	p.P88L	B3GNTL1_uc002kgf.1_5'UTR	NM_001009905	NP_001009905	Q67FW5	B3GNL_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1 (B3GNTL1), mRNA.	88							transferase activity, transferring glycosyl groups			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			TCTAGGAGAGGGAGAATCGTG	0.418000														81			8		0	0	1	0	0
CKAP5	9793	broad.mit.edu	37	11	46765767	46765767	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:46765767G>A	uc001ndi.2	-	43	6031	c.5905C>T	c.(5905-5907)Cct>Tct	p.P1969S	CKAP5_uc009ylg.1_Missense_Mutation_p.P1862S|CKAP5_uc001ndj.2_Missense_Mutation_p.P1909S|CKAP5_uc001ndh.1_Missense_Mutation_p.P898S	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	Homo sapiens cytoskeleton associated protein 5 (CKAP5), transcript variant 1, mRNA.	1969					G2/M transition of mitotic cell cycle|RNA transport|cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|mitotic prometaphase|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						GCGACAGTAGGAACTGCTGGT	0.517000														66			23		0	0	1	0	0
LHX8	431707	broad.mit.edu	37	1	75602798	75602798	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:75602798G>A	uc001dgo.3	+	3	783	c.119G>A	c.(118-120)gGa>gAa	p.G40E	LHX8_uc021oou.1_Missense_Mutation_p.G40E|LHX8_uc001dgq.3_5'UTR	NM_001001933	NP_001001933	Q68G74	LHX8_HUMAN	Homo sapiens LIM homeobox 8 (LHX8), transcript variant 1, mRNA.	40						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E39K(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						AGCCCCGAGGGAGCGGGGGAC	0.726000														58			11		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124201686	124201686	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:124201686C>T	uc003ehg.3	+	27	4344	c.4217C>T	c.(4216-4218)tCc>tTc	p.S1406F	KALRN_uc010hrv.1_Missense_Mutation_p.S1397F|KALRN_uc003ehf.1_Missense_Mutation_p.S1406F|KALRN_uc011bjy.1_Missense_Mutation_p.S1397F|KALRN_uc003ehh.1_Missense_Mutation_p.S752F	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	1406	DH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CTGGCCAACTCCATCTCTTCC	0.512000														123			22		0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98750402	98750402	+	Splice_Site	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:98750402G>A	uc002syo.3	+	7	1252	c.988_splice	c.e7+1	p.G330_splice	VWA3B_uc010yvh.2_Splice_Site_p.G180_splice|VWA3B_uc002syj.3_Splice_Site|VWA3B_uc002syk.1_Splice_Site|VWA3B_uc002syl.1_Intron|VWA3B_uc002sym.3_Splice_Site_p.G330_splice|VWA3B_uc002syn.1_Splice_Site	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA.	330										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						ACTCCCTCCAGGTACCTGGAA	0.458000														57			15		0	0	1	0	0
KCTD19	146212	broad.mit.edu	37	16	67327544	67327544	+	Silent	SNP	C	T	T	rs143567769		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:67327544C>T	uc002esu.2	-	11	2172	c.2121G>A	c.(2119-2121)gcG>gcA	p.A707A	KCTD19_uc002est.2_Silent_p.A479A|KCTD19_uc010vjj.1_Silent_p.A450A	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 19 (KCTD19), mRNA.	707						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.A707A(2)		endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CCTTGTCTTTCGCTCCAGCTC	0.602000														76			21		0	0	1	0	0
FANCD2	2177	broad.mit.edu	37	3	10089677	10089677	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:10089677C>T	uc003buw.3	+	15	1433	c.1355C>T	c.(1354-1356)tCa>tTa	p.S452L	FANCD2_uc003bux.1_Missense_Mutation_p.S452L|FANCD2_uc003buy.1_Missense_Mutation_p.S452L|FANCD2_uc010hcw.1_5'Flank	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 1, mRNA.	452					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		AGTATAATTTCATTTGGCAGT	0.403000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					161			11		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38949939	38949939	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:38949939G>A	uc002oit.3	+	18	2451	c.2321G>A	c.(2320-2322)gGg>gAg	p.G774E	RYR1_uc002oiu.3_Missense_Mutation_p.G774E	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	774	B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.D773Y(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AACCTGGACGGGCTCTTCTTC	0.602000														53			10		0	0	1	0	0
MON2	23041	broad.mit.edu	37	12	62979270	62979270	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:62979270C>T	uc001sre.3	+	32	5287	c.4896C>T	c.(4894-4896)tgC>tgT	p.C1632C	MON2_uc010ssn.2_Silent_p.C1626C|MON2_uc009zqj.3_Silent_p.C1632C|MON2_uc010ssl.2_Silent_p.C1560C|MON2_uc010ssm.2_Silent_p.C1603C|MON2_uc001srf.3_Silent_p.C1395C|MON2_uc001srg.3_Silent_p.C501C	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	Homo sapiens MON2 homolog (S. cerevisiae) (MON2), mRNA.	1633					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		GTGGTAAATGCCCTCTTCCAA	0.333000														23			6		0	0	1	0	0
XPO7	23039	broad.mit.edu	37	8	21844746	21844746	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:21844746C>T	uc003xaa.4	+	13	1774	c.1672C>T	c.(1672-1674)Cgt>Tgt	p.R558C		NM_015024	NP_055839	Q9UIA9	XPO7_HUMAN	Homo sapiens exportin 7 (XPO7), mRNA.	558					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		TGAACAGTTTCGTAAGATCTA	0.483000														97			18		0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70916638	70916638	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:70916638C>T	uc003pfc.1	+	49	3374	c.3257C>T	c.(3256-3258)cCt>cTt	p.P1086L		NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	1086	Triple-helical region 6 (COL6).				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						AGAGGTGAACCTGGAATTGGG	0.448000														31			3		0	0	1	0	0
PRB4	5545	broad.mit.edu	37	12	11461723	11461723	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:11461723C>T	uc001qzf.1	-	2	228	c.194G>A	c.(193-195)gGa>gAa	p.G65E	PRB4_uc001qzt.3_Missense_Mutation_p.G65E	NM_002723	NP_002714	P10163	PRB4_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 4 (PRB4), mRNA.	65	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.					extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						GGACTGGTTTCCTCCTTGTGG	0.622000										HNSCC(22;0.051)				452			88		0	0	1	0	0
SBNO2	22904	broad.mit.edu	37	19	1123971	1123971	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:1123971G>A	uc002lrk.4	-	5	730	c.492C>T	c.(490-492)tcC>tcT	p.S164S	SBNO2_uc002lrj.4_Silent_p.S107S|SBNO2_uc010dse.3_Silent_p.S157S|SBNO2_uc010dsf.3_Silent_p.S107S	NM_014963	NP_055778	Q9Y2G9	SBNO2_HUMAN	Homo sapiens strawberry notch homolog 2 (Drosophila) (SBNO2), transcript variant 1, mRNA.	164					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGTGCTGTGGGAGGGCAGAA	0.652000														29			18		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13753355	13753355	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:13753355C>T	uc003jfd.2	-	62	10901	c.10859G>A	c.(10858-10860)cGa>cAa	p.R3620Q	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3620	AAA 5 (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)					GAGTTCATTTCGGCTTTCTTT	0.333000									Kartagener syndrome					30			7		0	0	1	0	0
KCNH6	81033	broad.mit.edu	37	17	61623250	61623250	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:61623250G>A	uc002jay.3	+	13	3052	c.2972G>A	c.(2971-2973)aGt>aAt	p.S991N	KCNH6_uc010wpl.2_Missense_Mutation_p.S832N|KCNH6_uc010wpm.2_Missense_Mutation_p.S955N|KCNH6_uc002jaz.1_Missense_Mutation_p.S902N	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	991					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	TTTGCAGGGAGTTGGGGCCAC	0.567000														54			11		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7724654	7724654	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:7724654G>A	uc002giu.1	+	71	11123	c.11109G>A	c.(11107-11109)atG>atA	p.M3703I	DNAH2_uc010cnm.1_Missense_Mutation_p.M641I	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	3703					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGCTCAACATGGATGAATACA	0.498000														41			8		0	0	1	0	0
NGF	4803	broad.mit.edu	37	1	115828985	115828985	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:115828985C>T	uc021osd.1	-	0	432	c.432G>A	c.(430-432)ggG>ggA	p.G144G	NGF_uc001efu.1_Silent_p.G144G	NM_002506	NP_002497	P01138	NGF_HUMAN	Homo sapiens nerve growth factor (beta polypeptide) (NGF), mRNA.	144					Ras protein signal transduction|activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	Golgi lumen|endosome	growth factor activity|nerve growth factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	TGGTCTTATCCCCAACCCACA	0.517000														115			18		0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56480404	56480404	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:56480404G>A	uc001sjh.3	+	3	787	c.511G>A	c.(511-513)Gat>Aat	p.D171N	ERBB3_uc009zoj.3_Non-coding_Transcript|ERBB3_uc010sqb.2_Intron|ERBB3_uc010sqc.2_Missense_Mutation_p.D112N|ERBB3_uc001sji.3_5'Flank	NM_001982	NP_001973	P21860	ERBB3_HUMAN	Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian) (ERBB3), transcript variant 1, mRNA.	171					Schwann cell differentiation|cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GAGGGACCGAGATGCTGAGAT	0.498000														160			29		0	0	1	0	0
SPANXN2	494119	broad.mit.edu	37	X	142795241	142795241	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chrX:142795241C>T	uc004fbz.3	-	1	1191	c.437G>A	c.(436-438)gGa>gAa	p.G146E		NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN	Homo sapiens SPANX family, member N2 (SPANXN2), mRNA.	146								p.G146E(4)|p.I24I(2)|p.E145K(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CTGTGAAGATCCTTCAGATGA	0.527000														131			73		0	0	1	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187693001	187693001	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:187693001G>A	uc002upu.1	-	8	1652	c.1612C>T	c.(1612-1614)Cac>Tac	p.H538Y		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA.	538					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			AGACTAGTGTGAAATTTTCCA	0.398000														28			14		0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	148080965	148080965	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:148080965G>A	uc003weu.2	+	21	4216	c.3700G>A	c.(3700-3702)Gat>Aat	p.D1234N	CNTNAP2_uc003wev.2_Missense_Mutation_p.D11N	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	1234					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CTGGCACCTGGATCACCTGGA	0.562000										HNSCC(39;0.1)				23			9		0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133919138	133919138	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:133919138C>T	uc003ytw.3	+	16	3881	c.3840C>T	c.(3838-3840)gcC>gcT	p.A1280A	TG_uc010mdw.3_Silent_p.A39A	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	1280					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGCCCCGGGCCTGCCAACGTG	0.642000														24			3		0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128862102	128862102	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:128862102C>T	uc003kvb.1	+	3	1021	c.1021C>T	c.(1021-1023)Cat>Tat	p.H341Y	ADAMTS19_uc003kvc.1_Non-coding_Transcript	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.	341	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GGTTTCCTATCATGGAGCAGA	0.388000														68			16		0	0	1	0	0
OR4N2	390429	broad.mit.edu	37	14	20295729	20295729	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:20295729G>A	uc010tkv.2	+	0	122	c.122G>A	c.(121-123)gGa>gAa	p.G41E		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATCCTCCCTGGAAATTTTCTC	0.448000														163			33		0	0	1	0	0
HABP2	3026	broad.mit.edu	37	10	115338440	115338440	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr10:115338440G>A	uc001lai.4	+	6	726	c.623G>A	c.(622-624)aGg>aAg	p.R208K	HABP2_uc021pyr.1_Missense_Mutation_p.R182K|HABP2_uc010qrz.1_Non-coding_Transcript|HABP2_uc010qry.1_3'UTR	NM_004132	NP_001171131	Q14520	HABP2_HUMAN	Homo sapiens hyaluronan binding protein 2 (HABP2), transcript variant 1, mRNA.	208	Kringle.				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		AAAATGAATAGGACAGTCAAC	0.493000														85			19		0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126542709	126542709	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:126542709C>T	uc003vlr.2	-	4	1354	c.1043G>A	c.(1042-1044)cGa>cAa	p.R348Q	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.R348Q|GRM8_uc010lkz.1_Non-coding_Transcript|GRM8_uc003vlu.1_Missense_Mutation_p.R69Q	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	348					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GGCAAGAGTTCGGCTTCTAAA	0.343000										HNSCC(24;0.065)				60			4		0	0	1	0	0
TRBV5-4	28611	broad.mit.edu	37	7	142168486	142168486	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:142168486G>A	uc011kry.1	-	1	403	c.237C>T	c.(235-237)ttC>ttT	p.F79F	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|TRBV5-4_uc022anj.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		ATCTAGGAGGGAAGTTTCCTC	0.527000														105			15		0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88963320	88963320	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:88963320G>A	uc011khi.2	+	3	1562	c.1024G>A	c.(1024-1026)Gaa>Aaa	p.E342K		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	Homo sapiens zinc finger protein 804B (ZNF804B), mRNA.	342						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TACCAGCAGAGAAAAAGAAAC	0.353000										HNSCC(36;0.09)				19			3		0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35647892	35647892	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:35647892C>T	uc003xjr.2	+	16	3001	c.2673C>T	c.(2671-2673)ttC>ttT	p.F891F	UNC5D_uc003xjs.2_Silent_p.F886F|UNC5D_uc003xju.2_Silent_p.F467F|UNC5D_uc022atw.1_5'Flank	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	891	Death.				apoptosis|axon guidance	integral to membrane	receptor activity	p.S890R(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TATCTTATTTCGCTACACAAA	0.393000														56			9		0	0	1	0	0
NUDT13	25961	broad.mit.edu	37	10	74884003	74884003	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr10:74884003G>A	uc001jtj.3	+	4	515	c.390G>A	c.(388-390)gaG>gaA	p.E130E	NUDT13_uc010qkc.2_Silent_p.E4E|NUDT13_uc010qkd.2_Intron|NUDT13_uc009xqw.3_Non-coding_Transcript|NUDT13_uc001jtk.3_Silent_p.E130E|NUDT13_uc010qke.2_Intron|NUDT13_uc001jtl.3_Silent_p.E130E	NM_015901	NP_056985	Q86X67	NUD13_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 13 (NUDT13), mRNA.	130							hydrolase activity|metal ion binding			large_intestine(2)|lung(5)	7	Prostate(51;0.0119)					TGGAGACAGAGCTCAAGGGGT	0.423000														58			7		0	0	1	0	0
HEATR4	399671	broad.mit.edu	37	14	73989524	73989524	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:73989524G>A	uc021rwe.1	-	2	681	c.333C>T	c.(331-333)gcC>gcT	p.A111A	HEATR4_uc021rwf.1_Silent_p.A64A|HEATR4_uc010tub.1_Silent_p.A111A	NM_001220484	NP_001207413			Homo sapiens HEAT repeat containing 4 (HEATR4), transcript variant 1, mRNA.											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		TCTGAGGCCGGGCCTTCCTGA	0.532000														55			13		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2690858	2690858	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:2690858C>T	uc009zdu.1	+	13	2311	c.1998C>T	c.(1996-1998)tcC>tcT	p.S666S	CACNA1C_uc001qkc.2_Silent_p.S666S|CACNA1C_uc001qjz.2_Silent_p.S666S|CACNA1C_uc001qkd.2_Silent_p.S666S|CACNA1C_uc001qke.2_Silent_p.S666S|CACNA1C_uc001qkf.2_Silent_p.S666S|CACNA1C_uc009zdw.1_Silent_p.S666S|CACNA1C_uc001qkg.2_Silent_p.S666S|CACNA1C_uc001qkh.2_Silent_p.S666S|CACNA1C_uc001qkl.2_Silent_p.S666S|CACNA1C_uc001qkj.2_Silent_p.S666S|CACNA1C_uc001qkk.2_Silent_p.S666S|CACNA1C_uc001qkn.2_Silent_p.S666S|CACNA1C_uc001qkm.2_Silent_p.S666S|CACNA1C_uc001qko.2_Silent_p.S666S|CACNA1C_uc001qkp.2_Silent_p.S666S|CACNA1C_uc001qkq.2_Silent_p.S666S|CACNA1C_uc001qku.2_Silent_p.S666S|CACNA1C_uc001qkr.2_Silent_p.S666S|CACNA1C_uc001qks.2_Silent_p.S666S|CACNA1C_uc001qkt.2_Silent_p.S666S|CACNA1C_uc009zdv.1_Silent_p.S663S|CACNA1C_uc001qkb.2_Silent_p.S666S|CACNA1C_uc001qka.1_Silent_p.S201S|CACNA1C_uc001qki.1_Silent_p.S402S	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	666					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	tcatcttctccctcctGGGGA	0.537000														28			6		0	0	1	0	0
GSDMA	284110	broad.mit.edu	37	17	38133112	38133112	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:38133112G>A	uc002htl.1	+	11	1257	c.1139G>A	c.(1138-1140)gGt>gAt	p.G380D	GSDMA_uc002htm.1_Missense_Mutation_p.G380D	NM_178171	NP_835465	Q96QA5	GSDMA_HUMAN	Homo sapiens gasdermin A (GSDMA), mRNA.	380					apoptosis|induction of apoptosis	perinuclear region of cytoplasm				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						GATAAAGAGGGTGTTTTCCCC	0.547000														123			26		0	0	1	0	0
LRSAM1	90678	broad.mit.edu	37	9	130251788	130251788	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:130251788C>T	uc004brb.2	+	18	1785	c.1413C>T	c.(1411-1413)atC>atT	p.I471I	LRSAM1_uc010mxk.2_Silent_p.I471I|LRSAM1_uc004brc.2_Silent_p.I471I|LRSAM1_uc004brd.2_Silent_p.I471I|LRSAM1_uc004bre.2_Silent_p.I51I	NM_001005373	NP_612370	Q6UWE0	LRSM1_HUMAN	Homo sapiens leucine rich repeat and sterile alpha motif containing 1 (LRSAM1), transcript variant 2, mRNA.	471					negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						ATCGGCAGATCAGGAGCCAGG	0.637000														19			3		0	0	1	0	0
FAM70B	348013	broad.mit.edu	37	13	114498175	114498175	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr13:114498175G>A	uc001vuh.3	+	3	334	c.307G>A	c.(307-309)Gcc>Acc	p.A103T		NM_182614	NP_872420	Q8WV15	FA70B_HUMAN	Homo sapiens family with sequence similarity 70, member B (FAM70B), mRNA.	103						integral to membrane				upper_aerodigestive_tract(1)	1	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.123)|all_epithelial(44;0.133)	all cancers(43;0.181)			CTTCTGCTGCGCCATCGTGGA	0.547000														51			9		0	0	1	0	0
KRT10	3858	broad.mit.edu	37	17	38977341	38977341	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:38977341T>C	uc002hvi.3	-	1	682	c.656A>G	c.(655-657)aAc>aGc	p.N219S	TMEM99_uc021txc.1_Intron|TMEM99_uc002hvj.1_Intron|TMEM99_uc021txd.1_Intron	NM_000421	NP_000412	P13645	K1C10_HUMAN	Homo sapiens keratin 10 (KRT10), mRNA.	219	Coil 1B.|Gly-rich.|Rod.				epidermis development		protein binding|structural constituent of epidermis			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				AAGCAGGATGTTGGCATTATC	0.428000														67			14		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9075392	9075392	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:9075392C>T	uc002mkp.3	-	2	12258	c.12054G>A	c.(12052-12054)agG>agA	p.R4018R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4020	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						GGCTGACGTCCCTCAGTTCAA	0.473000														50			10		0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10543080	10543080	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:10543080G>A	uc002gmq.2	-	22	2810	c.2722C>T	c.(2722-2724)Cag>Tag	p.Q908*		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	908					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TTGATCAGCTGATCGCATCTT	0.418000														81			33		0	0	1	0	0
OR10T2	128360	broad.mit.edu	37	1	158369106	158369106	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:158369106G>A	uc010pih.2	-	0	151	c.151C>T	c.(151-153)Cgc>Tgc	p.R51C		NM_001004475	NP_001004475	Q8NGX3	O10T2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily T, member 2 (OR10T2), mRNA.	51					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)					CAGCTGAAGCGAATAACGGCC	0.483000														23			4		0	0	1	0	0
LTN1	26046	broad.mit.edu	37	21	30365209	30365209	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr21:30365209G>A	uc002ymr.2	-	0	69	c.56C>T	c.(55-57)tCt>tTt	p.S19F		NM_015565	NP_056380	O94822	LTN1_HUMAN	Homo sapiens listerin E3 ubiquitin protein ligase 1 (LTN1), mRNA.	0							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						GGCGGCGGAAGAGGACACCCT	0.632000														10			6		0	0	1	0	0
KCNK10	54207	broad.mit.edu	37	14	88707124	88707124	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:88707124C>T	uc001xwm.3	-	2	565	c.443G>A	c.(442-444)gGa>gAa	p.G148E	KCNK10_uc001xwn.3_Missense_Mutation_p.G148E|KCNK10_uc001xwo.3_Missense_Mutation_p.G143E	NM_138318	NP_612191	P57789	KCNKA_HUMAN	Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA.	143					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.N147N(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GGAAGAGTTTCCTATTGGACT	0.418000														58			11		0	0	1	0	0
DDX4	54514	broad.mit.edu	37	5	55088501	55088501	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:55088501G>A	uc003jqg.4	+	16	1434	c.1335G>A	c.(1333-1335)ttG>ttA	p.L445L	DDX4_uc010ivz.3_Silent_p.L425L|DDX4_uc003jqh.4_Silent_p.L411L|DDX4_uc003jqj.3_Silent_p.L296L	NM_024415	NP_077726	Q9NQI0	DDX4_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 (DDX4), transcript variant 1, mRNA.	445	Helicase ATP-binding.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				ACTTAGTTTTGGATGAAGCTG	0.343000														57			8		0	0	1	0	0
GALNTL1	57452	broad.mit.edu	37	14	69795192	69795192	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:69795192G>A	uc001xlb.2	+	5	921	c.594G>A	c.(592-594)ggG>ggA	p.G198G	GALNTL1_uc001xla.2_Silent_p.G198G|GALNTL1_uc010aqu.2_Silent_p.G198G	NM_020692	NP_065743	Q8N428	GLTL1_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1 (GALNTL1), transcript variant 2, mRNA.	198	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|stomach(2)	24				all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656)		GAGTGCGTGGGGCGGACGTGG	0.627000														192			38		0	0	1	0	0
MAP7	9053	broad.mit.edu	37	6	136677832	136677832	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:136677832C>T	uc011edg.2	-	15	2352	c.2103G>A	c.(2101-2103)gaG>gaA	p.E701E	MAP7_uc011edf.2_Silent_p.E656E|MAP7_uc010kgu.3_Silent_p.E693E|MAP7_uc011edh.2_Silent_p.E656E|MAP7_uc010kgv.3_Silent_p.E693E|MAP7_uc010kgs.3_Silent_p.E525E|MAP7_uc011edi.2_Silent_p.E525E|MAP7_uc010kgq.2_Silent_p.E577E|MAP7_uc003qgz.3_Silent_p.E671E|MAP7_uc003qha.2_Silent_p.E634E	NM_001198609	NP_001185538	Q14244	MAP7_HUMAN	Homo sapiens microtubule-associated protein 7 (MAP7), transcript variant 3, mRNA.	671					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		AAACTCACCTCTCCACTGTCA	0.418000														39			7		0	0	1	0	0
C17orf28	283987	broad.mit.edu	37	17	72954806	72954806	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:72954806G>A	uc002jmj.4	-	9	1351	c.1202C>T	c.(1201-1203)cCc>cTc	p.P401L	C17orf28_uc010wrs.2_Missense_Mutation_p.P200L	NM_030630	NP_085133	Q8IV36	CQ028_HUMAN	Homo sapiens chromosome 17 open reading frame 28 (C17orf28), mRNA.	401						integral to membrane|plasma membrane	protein binding			endometrium(5)|large_intestine(5)|lung(2)|prostate(1)|skin(3)|urinary_tract(1)	17	all_lung(278;0.151)|Lung NSC(278;0.185)					GAAGAGGATGGGGACAAGGAT	0.622000											OREG0024721	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		63			10		0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115997949	115997949	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:115997949G>A	uc003ibu.3	-	1	923	c.244C>T	c.(244-246)Ctc>Ttc	p.L82F	NDST4_uc010imw.3_Intron	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	82	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TCCACGAAGAGAAGGACAGTA	0.438000														68			6		0	0	1	0	0
MEIS2	4212	broad.mit.edu	37	15	37184528	37184528	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:37184528G>A	uc001zjr.3	-	11	2354	c.1280C>T	c.(1279-1281)tCa>tTa	p.S427L	MEIS2_uc001zjl.3_3'UTR|MEIS2_uc010ucj.2_Missense_Mutation_p.S407L|MEIS2_uc001zjm.3_3'UTR|MEIS2_uc001zjn.3_3'UTR|MEIS2_uc001zjo.3_3'UTR|MEIS2_uc001zjp.3_3'UTR|MEIS2_uc001zjs.3_Missense_Mutation_p.S420L|MEIS2_uc001zju.3_3'UTR|MEIS2_uc001zjt.3_Missense_Mutation_p.S420L|MEIS2_uc001zjj.3_Missense_Mutation_p.S123L|MEIS2_uc001zjk.3_Missense_Mutation_p.S116L	NM_170675	NP_733775	O14770	MEIS2_HUMAN	Homo sapiens Meis homeobox 2 (MEIS2), transcript variant c, mRNA.	427					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.P424_L429delPMHSYL(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		TGGCAAATATGAATGCATTGG	0.537000														316			63		0	0	1	0	0
THBS4	7060	broad.mit.edu	37	5	79351631	79351631	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:79351631G>A	uc021yaw.1	+	2	507	c.316G>A	c.(316-318)Gat>Aat	p.D106N		NM_003248	NP_003239	P35443	TSP4_HUMAN	Homo sapiens thrombospondin 4 (THBS4), mRNA.	106	TSP N-terminal.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		CCTGAAGAACGATGGGAAGGT	0.552000														310			54		0	0	1	0	0
DNMT3A	1788	broad.mit.edu	37	2	25464459	25464459	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:25464459C>T	uc002rgc.3	-	16	2311	c.2054G>A	c.(2053-2055)gGg>gAg	p.G685E	DNMT3A_uc002rgd.3_Missense_Mutation_p.G685E|DNMT3A_uc010eyi.3_Non-coding_Transcript|DNMT3A_uc002rgb.3_Missense_Mutation_p.G496E	NM_022552	NP_783328	Q9Y6K1	DNM3A_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 alpha (DNMT3A), transcript variant 3, mRNA.	685					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCGGACGTCCCCGACGTACAT	0.627000			"""Mis, F, N, S"""		AML									49			21		0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46066510	46066510	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:46066510C>T	uc003gxb.3	-	4	725	c.573G>A	c.(571-573)caG>caA	p.Q191Q		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA.	191					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		AGTTATGAAGCTGAAGATAAC	0.289000														88			11		0	0	1	0	0
TAS2R40	259286	broad.mit.edu	37	7	142919729	142919729	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:142919729C>T	uc011ksx.2	+	0	558	c.558C>T	c.(556-558)ttC>ttT	p.F186F		NM_176882	NP_795363	P59535	T2R40_HUMAN	Homo sapiens taste receptor, type 2, member 40 (TAS2R40), mRNA.	186					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					AGAAGTACTTCTCTGAGACCA	0.468000														98			20		0	0	1	0	0
CD8A	925	broad.mit.edu	37	2	87017736	87017736	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:87017736C>T	uc002srt.3	-	1	1007	c.118G>A	c.(118-120)Gag>Aag	p.E40K	RMND5A_uc002srs.4_Intron|CD8A_uc002srv.3_Missense_Mutation_p.E40K|CD8A_uc010ytn.2_Missense_Mutation_p.E81K|CD8A_uc002sru.3_Missense_Mutation_p.E40K	NM_001768	NP_001759	P01732	CD8A_HUMAN	Homo sapiens CD8a molecule (CD8A), transcript variant 1, mRNA.	40	Ig-like V-type.				antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway	T cell receptor complex|extracellular region|integral to plasma membrane	MHC class I protein binding|coreceptor activity			lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	8						CACTTCAGCTCCACTGTCTCG	0.701000														49			33		0	0	1	0	0
ZEB1	6935	broad.mit.edu	37	10	31810433	31810433	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr10:31810433G>A	uc001ivs.4	+	6	2233	c.2170G>A	c.(2170-2172)Gag>Aag	p.E724K	ZEB1_uc001ivr.4_Missense_Mutation_p.E506K|ZEB1_uc010qef.2_Missense_Mutation_p.E506K|ZEB1_uc009xlj.1_Missense_Mutation_p.E650K|ZEB1_uc010qeg.1_Missense_Mutation_p.E583K|ZEB1_uc009xlk.1_Missense_Mutation_p.E506K|ZEB1_uc001ivu.4_Missense_Mutation_p.E725K|ZEB1_uc010qeh.2_Missense_Mutation_p.E657K|ZEB1_uc001ivv.4_Missense_Mutation_p.E704K|ZEB1_uc001ivt.4_Missense_Mutation_p.E506K|ZEB1_uc009xlo.2_Missense_Mutation_p.E707K|ZEB1_uc009xlp.3_Missense_Mutation_p.E708K	NM_030751	NP_110378	P37275	ZEB1_HUMAN	Homo sapiens zinc finger E-box binding homeobox 1 (ZEB1), transcript variant 2, mRNA.	724					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				GTACACAGCTGAGGGTGCACA	0.438000														58			5		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79284704	79284704	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:79284704C>T	uc003hlb.2	+	20	2900	c.2460C>T	c.(2458-2460)ctC>ctT	p.L820L	FRAS1_uc003hkw.3_Silent_p.L820L	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	820					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CAGCTGATCTCCACAACACTG	0.577000														21			11		0	0	1	0	0
LNPEP	4012	broad.mit.edu	37	5	96358092	96358092	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:96358092C>T	uc003kmv.1	+	13	2979	c.2465C>T	c.(2464-2466)gCc>gTc	p.A822V	LNPEP_uc003kmw.1_Missense_Mutation_p.A808V	NM_005575	NP_787116	Q9UIQ6	LCAP_HUMAN	Homo sapiens leucyl/cystinyl aminopeptidase (LNPEP), transcript variant 1, mRNA.	822					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		CTTCGGTCAGCCCTGCTAGAG	0.453000														30			13		0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77807327	77807327	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr13:77807327G>A	uc021rks.1	-	17	2968	c.2701C>T	c.(2701-2703)Cca>Tca	p.P901S	MYCBP2_uc010aev.3_Missense_Mutation_p.P267S	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	863					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AGCTGTGCTGGATGGGATCTG	0.433000														123			29		0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101997760	101997760	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr13:101997760C>T	uc001vox.1	-	6	845	c.656G>A	c.(655-657)tGg>tAg	p.W219*	NALCN_uc001voy.3_5'UTR|NALCN_uc001voz.2_Nonsense_Mutation_p.W219*|NALCN_uc001vpa.2_Nonsense_Mutation_p.W219*	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	219						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TAAACTATTCCAGGTTACATT	0.378000														37			9		0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103070080	103070080	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:103070080G>A	uc001phn.1	+	48	8107	c.7963G>A	c.(7963-7965)Gga>Aga	p.G2655R	DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Missense_Mutation_p.G2655R	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	2655	AAA 4 (By similarity).				Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TCTATTAGCAGGACGCAGTGG	0.433000														26			10		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21014449	21014449	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:21014449C>T	uc010vbe.2	-	41	6103	c.6103G>A	c.(6103-6105)Gaa>Aaa	p.E2035K		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2035					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GGAACTTTTTCCTCCTCTTTG	0.383000														91			15		0	0	1	0	0
CALCOCO1	57658	broad.mit.edu	37	12	54115879	54115879	+	Missense_Mutation	SNP	C	T	T	rs150332172		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:54115879C>T	uc001sef.3	-	4	683	c.539G>A	c.(538-540)cGa>cAa	p.R180Q	CALCOCO1_uc010som.2_Missense_Mutation_p.R147Q|CALCOCO1_uc010son.2_Missense_Mutation_p.R57Q|CALCOCO1_uc009znd.3_Missense_Mutation_p.R180Q|CALCOCO1_uc001seg.3_Missense_Mutation_p.R57Q|CALCOCO1_uc001seh.2_Missense_Mutation_p.R180Q|CALCOCO1_uc010soo.1_Missense_Mutation_p.R173Q	NM_020898	NP_065949	Q9P1Z2	CACO1_HUMAN	Homo sapiens calcium binding and coiled-coil domain 1 (CALCOCO1), transcript variant 1, mRNA.	180	N-terminal AD (CTNNB1 binding site) (By similarity).				Wnt receptor signaling pathway|steroid hormone receptor signaling pathway|transcription, DNA-dependent	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						CTCCTGCACTCGGCTCCTCAG	0.607000														106			26		0	0	1	0	0
KRIT1	889	broad.mit.edu	37	7	91864912	91864912	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:91864912G>A	uc003ulr.1	-	7	1426	c.534C>T	c.(532-534)ttC>ttT	p.F178F	KRIT1_uc010lev.1_5'UTR|KRIT1_uc003ulq.1_Silent_p.F178F|KRIT1_uc003uls.1_Silent_p.F178F|KRIT1_uc003ult.1_Silent_p.F178F|KRIT1_uc003ulu.1_Silent_p.F178F|KRIT1_uc003ulv.1_Silent_p.F178F	NM_004912	NP_919438	O00522	KRIT1_HUMAN	Homo sapiens KRIT1, ankyrin repeat containing (KRIT1), transcript variant 2, mRNA.	178					angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GAGAAGGTCGGAATAAAGCTG	0.388000														49			4		0	0	1	0	0
TBC1D2	55357	broad.mit.edu	37	9	100995792	100995792	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:100995792C>T	uc011lvb.2	-	3	867	c.687G>A	c.(685-687)caG>caA	p.Q229Q	TBC1D2_uc004ayq.3_Silent_p.Q229Q|TBC1D2_uc004ayr.3_Silent_p.Q11Q	NM_018421	NP_060891	Q9BYX2	TBD2A_HUMAN	Homo sapiens TBC1 domain family, member 2 (TBC1D2), mRNA.	229						cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		GGCCTGTTCCCTGGGCCTGCT	0.592000														178			40		0	0	1	0	0
MAGI1	9223	broad.mit.edu	37	3	65415300	65415301	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:65415300_65415301CC>TT	uc003dmn.3	-	11	2587_2588	c.2061_2062GG>AA	c.(2059-2064)gtggaa>gtAAaa	p.E688K	MAGI1_uc003dmm.3_Missense_Mutation_p.E688K|MAGI1_uc003dmo.3_Missense_Mutation_p.E688K|MAGI1_uc003dmp.3_Missense_Mutation_p.E688K|MAGI1_uc010hny.2_Missense_Mutation_p.E573K	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA.	688	PDZ 3.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TTATTAACTTCCACTATGAGAT	0.500000														72			8		0	0	1	0	0
SSH3	54961	broad.mit.edu	37	11	67076895	67076896	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:67076895_67076896GG>AA	uc001okj.3	+	10	1267_1268	c.1089_1090GG>AA	c.(1087-1092)cgggag>cgAAag	p.E364K	SSH3_uc001okk.3_Non-coding_Transcript|SSH3_uc001okl.3_Missense_Mutation_p.E218K	NM_017857	NP_060327	Q8TE77	SSH3_HUMAN	Homo sapiens slingshot homolog 3 (Drosophila) (SSH3), mRNA.	364	Tyrosine-protein phosphatase.				regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			ACATGGCCCGGGAGATTGACAA	0.629000														111			20		0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49690916	49690917	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:49690916_49690917CC>TT	uc003cxe.4	+	4	4041_4042	c.3927_3928CC>TT	c.(3925-3930)acccct>acTTct	p.P1310S		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	1310					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GCCCCCTTACCCCTGGTACCAG	0.559000														143			33		0	0	1	0	0
C9	735	broad.mit.edu	37	5	39341279	39341279	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:39341279C>T	uc003jlv.4	-	3	534	c.445G>A	c.(445-447)Gag>Aag	p.E149K		NM_001737	NP_001728	P02748	CO9_HUMAN	Homo sapiens complement component 9 (C9), mRNA.	149	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			AGCTCAGACTCTTCTACCACT	0.463000														108			29		0	0	1	0	0
PPP6C	5537	broad.mit.edu	37	9	127912080	127912080	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:127912080G>A	uc010mwv.3	-	7	1122	c.901C>T	c.(901-903)Cgt>Tgt	p.R301C	PPP6C_uc004bpg.4_Missense_Mutation_p.R264C|PPP6C_uc010mww.3_Missense_Mutation_p.R242C|PPP6C_uc011lzr.2_Missense_Mutation_p.R117C	NM_001123355	NP_001116827	O00743	PPP6_HUMAN	Homo sapiens protein phosphatase 6, catalytic subunit (PPP6C), transcript variant 1, mRNA.	264					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity	p.R264C(3)|p.T301T(2)|p.R301C(1)		NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						TTTCCACAACGATAGCAGTAA	0.403000														44			6		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14750162	14750162	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:14750162C>T	uc003zlm.3	-	30	6336	c.5520G>A	c.(5518-5520)aaG>aaA	p.K1840K	FREM1_uc010mic.3_Non-coding_Transcript|FREM1_uc003zlk.3_Intron|FREM1_uc003zll.3_Silent_p.K376K	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	1840					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CAGCTTTTGTCTTTGTGCCAA	0.423000														93			27		0	0	1	0	0
ADIPOQ	9370	broad.mit.edu	37	3	186572062	186572062	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:186572062G>A	uc010hyy.3	+	3	439	c.304G>A	c.(304-306)Gga>Aga	p.G102R	ADIPOQ_uc003fra.3_Missense_Mutation_p.G102R	NM_001177800	NP_004788	Q15848	ADIPO_HUMAN	Homo sapiens adiponectin, C1Q and collagen domain containing (ADIPOQ), transcript variant 1, mRNA.	102	Collagen-like.				brown fat cell differentiation|cellular response to drug|cellular response to insulin stimulus|detection of oxidative stress|fatty acid beta-oxidation|generation of precursor metabolites and energy|glucose homeostasis|glucose metabolic process|low-density lipoprotein particle clearance|negative regulation of DNA biosynthetic process|negative regulation of ERK1 and ERK2 cascade|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of blood pressure|negative regulation of eukaryotic cell surface binding|negative regulation of fat cell differentiation|negative regulation of gluconeogenesis|negative regulation of granulocyte differentiation|negative regulation of heterotypic cell-cell adhesion|negative regulation of inflammatory response|negative regulation of intracellular protein transport|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|negative regulation of macrophage differentiation|negative regulation of phagocytosis|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein autophosphorylation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of synaptic transmission|negative regulation of transcription, DNA-dependent|negative regulation of tumor necrosis factor production|negative regulation of tumor necrosis factor-mediated signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of cAMP-dependent protein kinase activity|positive regulation of cholesterol efflux|positive regulation of fatty acid metabolic process|positive regulation of glucose import|positive regulation of glycogen (starch) synthase activity|positive regulation of interleukin-8 production|positive regulation of metanephric glomerular visceral epithelial cell development|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myeloid cell apoptosis|positive regulation of protein kinase A signaling cascade|positive regulation of renal albumin absorption|protein homooligomerization|protein localization in plasma membrane|response to glucose stimulus|response to tumor necrosis factor	collagen|endoplasmic reticulum|extracellular space	cytokine activity|eukaryotic cell surface binding|hormone activity|protein homodimerization activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(2)	16	all_cancers(143;1.2e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.47e-19)	GBM - Glioblastoma multiforme(93;0.0776)		AGGCAGGAAAGGAGAACCTGG	0.517000														90			33		0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872321	51872321	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr20:51872321C>T	uc002xwo.3	+	1	3211	c.2324C>T	c.(2323-2325)gCc>gTc	p.A775V	TSHZ2_uc021wex.1_Missense_Mutation_p.A772V	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	775					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AGCAAGAAAGCCGAGTCCTCG	0.557000														103			25		0	0	1	0	0
C1orf174	339448	broad.mit.edu	37	1	3807488	3807488	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:3807488G>A	uc001alf.3	-	2	370	c.263C>T	c.(262-264)cCt>cTt	p.P88L	C1orf174_uc009vls.3_Non-coding_Transcript	NM_207356	NP_997239	Q8IYL3	CA174_HUMAN	Homo sapiens chromosome 1 open reading frame 174 (C1orf174), mRNA.	88										endometrium(1)|large_intestine(5)|lung(4)|prostate(1)	11	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;5.09e-25)|all_epithelial(116;9.35e-17)|all_lung(118;1.09e-06)|Lung NSC(185;0.000139)|all_neural(13;0.00287)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0219)|all_hematologic(16;0.027)|Colorectal(325;0.0276)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;1.55e-39)|OV - Ovarian serous cystadenocarcinoma(86;5.99e-23)|GBM - Glioblastoma multiforme(42;2.22e-17)|Colorectal(212;1.08e-05)|COAD - Colon adenocarcinoma(227;5.49e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000365)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.19)		AGGGGTCTCAGGTGTCACTTT	0.498000														54			11		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126371365	126371365	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:126371365G>A	uc003ifj.4	+	8	9194	c.9194G>A	c.(9193-9195)gGa>gAa	p.G3065E	FAT4_uc011cgp.2_Missense_Mutation_p.G1363E|FAT4_uc003ifi.1_Missense_Mutation_p.G543E	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3065	Cadherin 29.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AAGGATAAGGGAAACCCTCCA	0.423000														26			4		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140236523	140236523	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:140236523G>A	uc003lhx.2	+	0	890	c.890G>A	c.(889-891)aGg>aAg	p.R297K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Missense_Mutation_p.R297K|PCDHAC2_uc011dad.2_Missense_Mutation_p.R297K	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	313	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATAAACGAAAGGACGGGAGAA	0.368000														46			11		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158597465	158597465	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:158597465C>T	uc001fst.1	-	39	5813	c.5614G>A	c.(5614-5616)Gag>Aag	p.E1872K		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1872					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ACTCGGGTCTCATGGACAGCA	0.408000														93			15		0	0	1	0	0
OBP2B	29989	broad.mit.edu	37	9	136081327	136081327	+	Splice_Site	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:136081327C>T	uc004ccz.3	-	6	533	c.491_splice	c.e6-1	p.G164_splice	OBP2B_uc010nad.3_Splice_Site|OBP2B_uc011mcy.2_Splice_Site_p.G96_splice	NM_014581	NP_055396	Q9NPH6	OBP2B_HUMAN	Homo sapiens odorant binding protein 2B (OBP2B), mRNA.	164					chemosensory behavior|sensory perception of smell	extracellular region	odorant binding|transporter activity			central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7				OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)		AACGCAGCTTCCTGCAGAGAC	0.617000														216			20		0	0	1	0	0
OTOL1	131149	broad.mit.edu	37	3	161221265	161221265	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:161221265G>A	uc011bpb.2	+	3	969	c.969G>A	c.(967-969)ggG>ggA	p.G323G		NM_001080440	NP_001073909	A6NHN0	OTOL1_HUMAN	Homo sapiens otolin 1 (OTOL1), mRNA.	323	Collagen-like 3.					collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						GCCCCACTGGGAAGAAGGGCT	0.567000														20			6		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149479387	149479387	+	Splice_Site	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:149479387G>A	uc010lpk.3	+	14	1900	c.1900_splice	c.e14+1	p.G634_splice	SSPO_uc010lpl.1_Splice_Site_p.Q27_splice	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	634	VWFD 2.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CAGGGACTCAGGTAGCCTCTG	0.607000														13			4		0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45699774	45699774	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:45699774C>T	uc003tne.4	+	6	1459	c.1441C>T	c.(1441-1443)Cgc>Tgc	p.R481C	ADCY1_uc003tnd.3_Missense_Mutation_p.R256C	NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	481					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	GCCATCCCATCGCCGAAAGGT	0.488000														62			16		0	0	1	0	0
AP4B1	10717	broad.mit.edu	37	1	114437951	114437951	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:114437951G>A	uc001eeb.3	-	9	2142	c.1956C>T	c.(1954-1956)ttC>ttT	p.F652F	LOC100287722_uc001edv.1_Intron|AP4B1_uc001eec.3_Silent_p.F484F|AP4B1_uc010owp.2_Silent_p.F553F|AP4B1_uc001eed.3_Silent_p.F652F|AP4B1_uc001eea.1_3'UTR|AP4B1_uc001eee.1_3'UTR	NM_001253852	NP_001240781	Q9Y6B7	AP4B1_HUMAN	Homo sapiens adaptor-related protein complex 4, beta 1 subunit (AP4B1), transcript variant 2, mRNA.	652					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGTCAGGATGGAATTCTCCCC	0.502000														84			10		0	0	1	0	0
GEMIN7	79760	broad.mit.edu	37	19	45593548	45593548	+	Missense_Mutation	SNP	G	A	A	rs147899933		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:45593548G>A	uc002pap.1	+	2	327	c.176G>A	c.(175-177)cGa>cAa	p.R59Q	PPP1R37_uc021uvs.1_5'Flank|GEMIN7_uc002paq.1_Missense_Mutation_p.R59Q|GEMIN7_uc002par.1_Missense_Mutation_p.R59Q|GEMIN7_uc021uvr.1_Missense_Mutation_p.R59Q	NM_001007270	NP_078983	Q9H840	GEMI7_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 7 (GEMIN7), transcript variant 3, mRNA.	59					ncRNA metabolic process|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding			endometrium(1)|kidney(1)|lung(4)|ovary(1)	7		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0131)		CAGCGGGCACGAGCCGCCCTT	0.632000														36			12		0	0	1	0	0
NTSR2	23620	broad.mit.edu	37	2	11802338	11802338	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:11802338G>A	uc002rbq.4	-	1	727	c.653C>T	c.(652-654)cCc>cTc	p.P218L		NM_012344	NP_036476	O95665	NTR2_HUMAN	Homo sapiens neurotensin receptor 2 (NTSR2), mRNA.	218					sensory perception	integral to plasma membrane				breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	TAGTGCCAAGGGGAGCACGAA	0.647000														232			43		0	0	1	0	0
SYNM	23336	broad.mit.edu	37	15	99672051	99672051	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:99672051G>A	uc002bup.3	+	4	3603	c.3483G>A	c.(3481-3483)gcG>gcA	p.A1161A	SYNM_uc002buo.3_Intron|SYNM_uc002buq.3_Intron	NM_145728	NP_663780	O15061	SYNEM_HUMAN	Homo sapiens synemin, intermediate filament protein (SYNM), transcript variant A, mRNA.	1162	Interaction with TLN1 and VCL.|Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						GTCAGGCAGCGAGCCCGACCG	0.607000														49			20		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8341178	8341178	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:8341178G>A	uc003zkk.3	-	40	5781	c.5038C>T	c.(5038-5040)Cca>Tca	p.P1680S	PTPRD_uc003zkp.3_Missense_Mutation_p.P1274S|PTPRD_uc003zkq.3_Missense_Mutation_p.P1273S|PTPRD_uc003zkr.3_Missense_Mutation_p.P1264S|PTPRD_uc003zks.3_Missense_Mutation_p.P1273S|PTPRD_uc022bdj.1_Missense_Mutation_p.P1270S	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	1680	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GATTCATATGGCATAATATTA	0.393000										TSP Lung(15;0.13)				118			18		0	0	1	0	0
EFTUD1	79631	broad.mit.edu	37	15	82450160	82450161	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:82450160_82450161GG>AA	uc002bgt.1	-	16	2092_2093	c.1923_1924CC>TT	c.(1921-1926)aaccag>aaTTag	p.Q642*	EFTUD1_uc002bgu.1_Nonsense_Mutation_p.Q591*	NM_024580	NP_078856	Q7Z2Z2	ETUD1_HUMAN	Homo sapiens elongation factor Tu GTP binding domain containing 1 (EFTUD1), transcript variant 1, mRNA.	642					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						GGATCAGCCTGGTTTAACAGTT	0.396000														53			14		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82586199	82586199	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:82586199G>A	uc003uhx.2	-	4	4359	c.4070C>T	c.(4069-4071)cCc>cTc	p.P1357L	PCLO_uc003uhv.2_Missense_Mutation_p.P1357L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1288					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.S1356G(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CAGACCTTGGGGGCTTTTAGG	0.408000														29			7		0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108229378	108229378	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:108229378C>T	uc003dxa.1	-	1	117	c.60G>A	c.(58-60)aaG>aaA	p.K20K		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	20	Myosin head-like.					myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						ACAGATCCATCTTTATTAAAG	0.423000														32			15		0	0	1	0	0
SPZ1	84654	broad.mit.edu	37	5	79617099	79617099	+	RNA	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:79617099G>A	uc011ctk.1	-	0		c.560C>T			SPZ1_uc003kgn.3_Silent_p.Q355Q			Q9BXG8	SPZ1_HUMAN	Homo sapiens cDNA FLJ25709 fis, clone TST04944.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		AGCCAATTCAGATAAACTATA	0.383000														63			11		0	0	1	0	0
XRCC2	7516	broad.mit.edu	37	7	152345844	152345844	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:152345844G>A	uc003wld.3	-	2	812	c.726C>T	c.(724-726)tcC>tcT	p.S242S		NM_005431	NP_005422	O43543	XRCC2_HUMAN	Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 2 (XRCC2), mRNA.	242					meiosis	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity			NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)		CATCTTGTTTGGAGAAAAACA	0.373000								Homologous recombination						160			28		0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33559843	33559843	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:33559843C>T	uc001rll.1	-	2	1255	c.958G>A	c.(958-960)Gat>Aat	p.D320N	SYT10_uc009zju.1_Missense_Mutation_p.D130N	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	Homo sapiens synaptotagmin X (SYT10), mRNA.	320	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					CTGTCAAAATCATACACACTG	0.363000														42			11		0	0	1	0	0
RNMTL1	55178	broad.mit.edu	37	17	694832	694832	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:694832G>A	uc002frw.3	+	3	892	c.786G>A	c.(784-786)cgG>cgA	p.R262R		NM_018146	NP_060616	Q9HC36	RMTL1_HUMAN	Homo sapiens RNA methyltransferase like 1 (RNMTL1), mRNA.	262					RNA processing		RNA binding|RNA methyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0219)		CACATTTCCGGATGCCCATTA	0.512000														77			15		0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28581686	28581686	+	Silent	SNP	T	C	C			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr18:28581686T>C	uc002kwj.4	-	13	2288	c.2133A>G	c.(2131-2133)gtA>gtG	p.V711V	DSC3_uc002kwi.4_Silent_p.V711V	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	711					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			AAACTCCACATACTAAAGTTA	0.299000														44			11		0	0	1	0	0
SRGAP3	9901	broad.mit.edu	37	3	9166573	9166573	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:9166573G>A	uc003brf.1	-	1	772	c.96C>T	c.(94-96)ttC>ttT	p.F32F	SRGAP3_uc003brg.1_Silent_p.F32F|SRGAP3_uc003bri.1_Non-coding_Transcript|SRGAP3_uc003brk.3_Silent_p.F32F	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	32	FCH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CCAGACATTTGAACTGCTCCA	0.607000			T	RAF1	pilocytic astrocytoma									64			18		0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179710428	179710428	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:179710428G>A	uc002une.2	-	21	3517	c.3399C>T	c.(3397-3399)ttC>ttT	p.F1133F	CCDC141_uc002unf.1_Silent_p.F612F	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	558							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			AATCATAATGGAAGTCTTCCA	0.373000														16			11		0	0	1	0	0
SLC1A5	6510	broad.mit.edu	37	19	47278996	47278996	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:47278996G>A	uc002pfs.3	-	7	2017	c.1397C>T	c.(1396-1398)tCc>tTc	p.S466F	SLC1A5_uc010xyh.2_Missense_Mutation_p.S264F|SLC1A5_uc002pfq.3_Missense_Mutation_p.S290F|SLC1A5_uc002pfr.3_Missense_Mutation_p.S238F	NM_005628	NP_001138616	Q15758	AAAT_HUMAN	Homo sapiens solute carrier family 1 (neutral amino acid transporter), member 5 (SLC1A5), transcript variant 1, mRNA.	466					cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	GACGGTACAGGACCGGTCGCT	0.567000														54			4		0	0	1	0	0
HNRNPL	3191	broad.mit.edu	37	19	39306638	39306638	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:39306638G>A	uc002oji.3	-	8	826	c.741C>T	c.(739-741)ttC>ttT	p.F247F	LGALS4_uc002ojg.3_5'Flank|LGALS4_uc010xuj.2_5'Flank	NM_001398	NP_001389	P14866	HNRPL_HUMAN	Homo sapiens enoyl CoA hydratase 1, peroxisomal (ECH1), mRNA.	0	RRM 2.				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|nucleotide binding|protein binding|transcription regulatory region DNA binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			CTTTGTCTGGGAACACCCGGC	0.612000														54			8		0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142565796	142565796	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:142565796G>A	uc011kst.2	+	12	2694	c.1907G>A	c.(1906-1908)aGc>aAc	p.S636N	EPHB6_uc011ksu.2_Missense_Mutation_p.S636N|EPHB6_uc003wbs.3_Missense_Mutation_p.S344N|EPHB6_uc003wbt.3_Missense_Mutation_p.S110N|EPHB6_uc003wbu.3_Missense_Mutation_p.S344N|EPHB6_uc003wbv.3_5'UTR	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	636						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CAGCAATACAGCAGCCCAGGT	0.627000														21			4		0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137701	40137701	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:40137701G>A	uc021qgf.1	-	0	142	c.142C>T	c.(142-144)Cct>Tct	p.P48S	LRRC4C_uc001mxc.1_Missense_Mutation_p.P44S|LRRC4C_uc001mxd.1_Missense_Mutation_p.P44S|LRRC4C_uc001mxa.1_Missense_Mutation_p.P48S|LRRC4C_uc001mxb.1_Missense_Mutation_p.P44S	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	48	LRRNT.				regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				CACACAGAAGGGCAGGTCTGA	0.562000														19			4		0	0	1	0	0
NXF5	55998	broad.mit.edu	37	X	101092587	101092587	+	Missense_Mutation	SNP	C	T	T	rs113591248	byFrequency	TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chrX:101092587C>T	uc011mrk.1	-	14	1319	c.959G>A	c.(958-960)cGa>cAa	p.R320Q	NXF5_uc004eih.1_Non-coding_Transcript|NXF5_uc004eii.1_Non-coding_Transcript|NXF5_uc004eij.1_Non-coding_Transcript|NXF5_uc004eik.1_Non-coding_Transcript|NXF5_uc004eil.1_Non-coding_Transcript	NM_032946	NP_116564	Q9H1B4	NXF5_HUMAN	Homo sapiens nuclear RNA export factor 5 (NXF5), transcript variant 1, mRNA.	320	NTF2; truncated.				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	RNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding	p.R320*(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						GTCCACGTTTCGTGGACATTT	0.537000														47			23		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106725137	106725137	+	RNA	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:106725137C>T	uc021ser.1	-	928		c.22341G>A								Parts of antibodies, mostly variable regions.																		CCGCTGATTTCCCCCCCATCG	0.587000														120			11		0	0	1	0	0
VWC2L	402117	broad.mit.edu	37	2	215278963	215278963	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:215278963C>T	uc002vet.2	+	1	176	c.46C>T	c.(46-48)Cct>Tct	p.P16S	VWC2L_uc010zjl.1_Missense_Mutation_p.P16S	NM_001080500	NP_001073969	B2RUY7	VWC2L_HUMAN	Homo sapiens von Willebrand factor C domain containing protein 2-like (VWC2L), mRNA.	16						extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						GTTGGTCATCCCTGGATTGGT	0.433000														43			14		0	0	1	0	0
TMEM150C	441027	broad.mit.edu	37	4	83423930	83423930	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:83423930G>A	uc011ccj.1	-	4	390	c.275C>T	c.(274-276)cCt>cTt	p.P92L	TMEM150C_uc003hmy.1_Missense_Mutation_p.P62L	NM_001080506	NP_001073975	B9EJG8	T150C_HUMAN	Homo sapiens transmembrane protein 150C (TMEM150C), mRNA.	62						integral to membrane				ovary(1)	1						GCTTGCAGGAGGATCATCACC	0.383000														6			4		0	0	1	0	0
IL1RL2	8808	broad.mit.edu	37	2	102804374	102804374	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:102804374C>T	uc002tbs.3	+	1	173	c.47C>T	c.(46-48)tCt>tTt	p.S16F	IL1RL2_uc002tbt.3_Silent_p.L43L	NM_003854	NP_003845	Q9HB29	ILRL2_HUMAN	Homo sapiens interleukin 1 receptor-like 2 (IL1RL2), mRNA.	16					cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						CTTCCACTGTCTGTCACAGCA	0.642000														129			16		0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2367371	2367371	+	Missense_Mutation	SNP	C	T	T	rs148726153		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:2367371C>T	uc002cpy.1	-	9	1736	c.1024G>A	c.(1024-1026)Gac>Aac	p.D342N	ABCA3_uc010bsk.1_Missense_Mutation_p.D342N|ABCA3_uc010bsl.1_Missense_Mutation_p.D342N	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.	342					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				AGGGAGGGGTCGCTGCGGGAC	0.622000														125			28		0	0	1	0	0
SPACA1	81833	broad.mit.edu	37	6	88767428	88767428	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:88767428G>A	uc003pmn.3	+	2	481	c.364G>A	c.(364-366)Ggc>Agc	p.G122S		NM_030960	NP_112222	Q9HBV2	SACA1_HUMAN	Homo sapiens sperm acrosome associated 1 (SPACA1), mRNA.	122						integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		AACAGATTGTGGCTGTGAGTT	0.448000														63			12		0	0	1	0	0
AACS	65985	broad.mit.edu	37	12	125558421	125558421	+	Splice_Site	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:125558421G>A	uc001uhc.3	+	2	340	c.134_splice	c.e2-1	p.E45_splice	AACS_uc009zyg.2_Splice_Site|AACS_uc001uhd.3_Splice_Site_p.E45_splice|AACS_uc009zyh.3_5'Flank	NM_023928	NP_076417	Q86V21	AACS_HUMAN	Homo sapiens acetoacetyl-CoA synthetase (AACS), mRNA.	45					fatty acid metabolic process	cytosol	ATP binding|acetoacetate-CoA ligase activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		TTCATTTTTAGAGAGTTATGA	0.418000														49			15		0	0	1	0	0
C6	729	broad.mit.edu	37	5	41181595	41181595	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:41181595C>T	uc003jmk.2	-	6	1003	c.793G>A	c.(793-795)Gaa>Aaa	p.E265K	C6_uc003jml.1_Missense_Mutation_p.E265K	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	265	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.E265*(2)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TGTTGATTTTCATTGTGTCCA	0.343000														31			3		0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	56035908	56035908	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:56035908C>T	uc003pcs.3	-	3	891	c.659G>A	c.(658-660)cGa>cAa	p.R220Q	COL21A1_uc003pct.1_Non-coding_Transcript|COL21A1_uc011dxi.1_Missense_Mutation_p.R220Q|COL21A1_uc003pcu.1_Missense_Mutation_p.R220Q	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	220					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CACTGGAATTCGTGTTGGACA	0.323000														57			13		0	0	1	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39109157	39109157	+	Splice_Site	SNP	G	A	A	rs148747631	by1000genomes	TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:39109157G>A	uc004abi.3	-	15	2604	c.2365_splice	c.e15+1	p.Q789_splice	CNTNAP3_uc004abj.3_Splice_Site_p.Q788_splice|CNTNAP3_uc011lqr.2_Splice_Site|CNTNAP3_uc004abk.1_Splice_Site_p.Q789_splice	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA.	789	Fibrinogen C-terminal.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CACTACTTACGATCTCCGCGG	0.448000														46			5		0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94473802	94473802	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:94473802G>A	uc001dqh.3	-	41	5991	c.5887C>T	c.(5887-5889)Cgc>Tgc	p.R1963C	ABCA4_uc001dqi.1_Missense_Mutation_p.R82C	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	1963	ABC transporter 2.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCTCCAGGGCGAACTCCGACA	0.547000														63			8		0	0	1	0	0
EPB41L2	2037	broad.mit.edu	37	6	131216217	131216217	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:131216217C>T	uc003qch.2	-	8	1461	c.1279G>A	c.(1279-1281)Gga>Aga	p.G427R	EPB41L2_uc010kfl.2_Missense_Mutation_p.G427R|EPB41L2_uc003qcg.1_Missense_Mutation_p.G427R|EPB41L2_uc003qci.3_Missense_Mutation_p.G427R|EPB41L2_uc011eby.2_Missense_Mutation_p.G427R|EPB41L2_uc010kfk.2_Missense_Mutation_p.G427R	NM_001431	NP_001422	O43491	E41L2_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 2 (EPB41L2), transcript variant 1, mRNA.	427	FERM.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		ATGAGAAGTCCATTAGCACAC	0.403000														95			19		0	0	1	0	0
IQUB	154865	broad.mit.edu	37	7	123152189	123152189	+	Missense_Mutation	SNP	G	A	A	rs140652989		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:123152189G>A	uc003vkn.3	-	1	783	c.206C>T	c.(205-207)tCa>tTa	p.S69L	IQUB_uc003vko.3_Missense_Mutation_p.S69L|IQUB_uc010lkt.3_Non-coding_Transcript|IQUB_uc003vkp.1_Missense_Mutation_p.S69L|IQUB_uc003vkq.2_Missense_Mutation_p.S69L	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN	Homo sapiens IQ motif and ubiquitin domain containing (IQUB), mRNA.	69										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TTCCAGGCTTGAAAAGCTTTG	0.413000														128			21		0	0	1	0	0
MYOC	4653	broad.mit.edu	37	1	171621175	171621175	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:171621175G>A	uc001ghu.3	-	0	599	c.577C>T	c.(577-579)Cgg>Tgg	p.R193W	MYOC_uc010pmk.2_Missense_Mutation_p.R135W	NM_000261	NP_000252	Q99972	MYOC_HUMAN	Homo sapiens myocilin, trabecular meshwork inducible glucocorticoid response (MYOC), mRNA.	193					anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity	p.A192T(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					GGCACAGCCCGAGCAGTGTCT	0.582000														261			48		0	0	1	0	0
FAM5C	339479	broad.mit.edu	37	1	190067966	190067966	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:190067966G>A	uc001gse.1	-	7	1715	c.1483C>T	c.(1483-1485)Ctc>Ttc	p.L495F	FAM5C_uc010pot.1_Missense_Mutation_p.L393F	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	495						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TTCATCTCGAGATCTTGCAGG	0.498000														181			37		0	0	1	0	0
ROR2	4920	broad.mit.edu	37	9	94493428	94493428	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:94493428C>T	uc004arj.2	-	6	1146	c.947G>A	c.(946-948)tGc>tAc	p.C316Y	ROR2_uc004ari.1_Missense_Mutation_p.C176Y|ROR2_uc004ark.3_Missense_Mutation_p.C316Y	NM_004560	NP_004551	Q01974	ROR2_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA.	316	Kringle.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GCCGTTATAGCACTGATGGTC	0.532000														101			27		0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42041469	42041469	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:42041469C>T	uc010ucy.2	+	16	5845	c.5664C>T	c.(5662-5664)tcC>tcT	p.S1888S	MGA_uc010ucz.2_Silent_p.S1679S|MGA_uc010uda.1_Silent_p.S504S|MGA_uc001zoi.3_Silent_p.S102S	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	1849						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		CATTGCTTTCCTCTGGAGCTA	0.453000														32			9		0	0	1	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69097044	69097044	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:69097044C>T	uc003hdw.4	-	6	699	c.563G>A	c.(562-564)gGa>gAa	p.G188E		NM_182502	NP_872308	Q86T26	TM11B_HUMAN	Homo sapiens transmembrane protease, serine 11B (TMPRSS11B), mRNA.	188	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.G188G(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						GGAGCTTTTTCCATTCACAAT	0.483000														44			11		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2876151	2876151	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:2876151G>A	uc022aqr.1	-	51	8267	c.7877C>T	c.(7876-7878)tCc>tTc	p.S2626F	CSMD1_uc011kwj.2_Missense_Mutation_p.S1956F|CSMD1_uc010lrg.3_Intron	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2627	Sushi 17.					integral to membrane		p.S2355F(1)|p.S2626F(1)		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)		TGGGGGAAAGGAAAGGCTTCC	0.423000														104			25		0	0	1	0	0
CENPK	64105	broad.mit.edu	37	5	64814402	64814402	+	Missense_Mutation	SNP	G	C	C			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:64814402G>C	uc003jts.3	-	10	922	c.710C>G	c.(709-711)tCc>tGc	p.S237C	CENPK_uc003jtu.3_Missense_Mutation_p.S237C	NM_022145	NP_071428	Q9BS16	CENPK_HUMAN	Homo sapiens centromere protein K (CENPK), mRNA.	237					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm				breast(1)|endometrium(1)|large_intestine(3)|lung(5)	10		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00466)		TGGCCAAAAGGAATCACTAAT	0.348000														51			13		0	0	1	0	0
OR4K5	79317	broad.mit.edu	37	14	20389398	20389398	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:20389398C>T	uc010tkw.2	+	0	633	c.633C>T	c.(631-633)ttC>ttT	p.F211F		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F211L(2)|p.F211S(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TAAGCACTTTCTCTCTCTTGG	0.423000														91			21		0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88420258	88420258	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:88420258C>T	uc002bme.2	-	19	2734	c.2428G>A	c.(2428-2430)Gaa>Aaa	p.E810K	NTRK3_uc002bmh.2_Missense_Mutation_p.E788K|NTRK3_uc002bmf.2_Missense_Mutation_p.E796K|NTRK3_uc021sua.1_Missense_Mutation_p.E788K	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.	810	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGCTGTGGTTCCCTCTGCCAG	0.542000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)				81			20		0	0	1	0	0
PRPF18	8559	broad.mit.edu	37	10	13658471	13658471	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr10:13658471A>G	uc001imp.3	+	8	1014	c.866A>G	c.(865-867)cAt>cGt	p.H289R	PRPF18_uc001imq.3_Intron	NM_003675	NP_003666	Q99633	PRP18_HUMAN	Homo sapiens PRP18 pre-mRNA processing factor 18 homolog (S. cerevisiae) (PRPF18), mRNA.	289					RNA splicing|mRNA processing	nuclear speck|spliceosomal complex		p.H289R(2)		central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1)	17						GTTGGTATCCATGCCAGAACT	0.423000														72			8		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9089119	9089119	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:9089119G>A	uc002mkp.3	-	0	2900	c.2696C>T	c.(2695-2697)cCc>cTc	p.P899L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	899	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						GTCCATGGTGGGGAATACTGG	0.512000														13			6		0	0	1	0	0
LSR	51599	broad.mit.edu	37	19	35757365	35757365	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:35757365G>A	uc002nyl.3	+	5	1249	c.1026G>A	c.(1024-1026)atG>atA	p.M342I	LSR_uc010xsr.2_Missense_Mutation_p.M234I|LSR_uc002nym.3_Missense_Mutation_p.M323I|LSR_uc002nyn.3_Missense_Mutation_p.M274I|LSR_uc002nyo.3_Missense_Mutation_p.M323I|LSR_uc002nyp.3_Missense_Mutation_p.M305I|USF2_uc010xss.1_5'Flank|USF2_uc002nyq.1_5'Flank|USF2_uc002nyr.1_5'Flank|USF2_uc002nyt.1_5'Flank	NM_205834	NP_991403	Q86X29	LSR_HUMAN	Homo sapiens lipolysis stimulated lipoprotein receptor (LSR), transcript variant 2, mRNA.	342					embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CACCAGCTATGATTCCCATGG	0.622000														106			20		0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31564236	31564236	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:31564236C>T	uc002rnv.1	-	32	3623	c.3544G>A	c.(3544-3546)Gat>Aat	p.D1182N		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	1182					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GAGCCAACATCCATGACAATA	0.483000														5			7		0	0	1	0	0
SLC4A5	57835	broad.mit.edu	37	2	74462303	74462303	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:74462303G>A	uc002sko.1	-	16	2360	c.2358C>T	c.(2356-2358)tcC>tcT	p.S786S	SLC4A5_uc002skl.3_Non-coding_Transcript|SLC4A5_uc002skn.3_Silent_p.S786S|SLC4A5_uc010ffc.1_Silent_p.S786S|SLC4A5_uc002skp.1_Intron|SLC4A5_uc002sks.1_Intron	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA.	786						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						ACATCAGGATGGAGAAAACAA	0.537000														61			24		0	0	1	0	0
VILL	50853	broad.mit.edu	37	3	38035943	38035943	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:38035943C>T	uc003chj.3	+	3	613	c.327C>T	c.(325-327)ttC>ttT	p.F109F	VILL_uc003chk.1_Silent_p.F109F|VILL_uc003chl.3_Silent_p.F109F|VILL_uc010hgu.3_5'UTR	NM_015873	NP_056957	O15195	VILL_HUMAN	Homo sapiens villin-like (VILL), mRNA.	109					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GCAGCTACTTCCGCCCGGGAA	0.697000														50			12		0	0	1	0	0
TCRB	0	broad.mit.edu	37	7	142120283	142120283	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:142120283G>A	uc022anf.1	-	0	68	c.39C>T	c.(37-39)ttC>ttT	p.F13F	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TCRB_uc022ane.1_Silent_p.F13F					SubName: Full=V_segment translation product; Flags: Fragment;																		CTGTCCCTAGGAAACCCAGGA	0.498000														174			21		0	0	1	0	0
ALAD	210	broad.mit.edu	37	9	116153160	116153160	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:116153160G>A	uc011lxf.2	-	4	517	c.315C>T	c.(313-315)atC>atT	p.I105I	ALAD_uc011lxe.2_Silent_p.I88I|ALAD_uc004bhl.4_Silent_p.I134I	NM_000031	NP_000022	P13716	HEM2_HUMAN	Homo sapiens aminolevulinate dehydratase (ALAD), mRNA.	105					heme biosynthetic process|protein homooligomerization	cytosol	identical protein binding|lead ion binding|porphobilinogen synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|stomach(1)	9					Aminolevulinic acid(DB00855)	TCAACAGATGGATTGCCTCAA	0.587000														52			5		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38927694	38927694	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:38927694C>T	uc021wvy.1	-	15	3070	c.2871G>A	c.(2869-2871)acG>acA	p.T957T	SCN11A_uc010hhn.1_Intron	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	957					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CTCTCTGGCTCGTGGGCTTCT	0.443000														50			9		0	0	1	0	0
UBE2NL	389898	broad.mit.edu	37	X	142967602	142967602	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chrX:142967602G>A	uc004fca.3	+	0	430	c.400G>A	c.(400-402)Gaa>Aaa	p.E134K		NM_001012989	NP_001013007	Q5JXB2	UE2NL_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2N-like (UBE2NL), mRNA.	134							acid-amino acid ligase activity			breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					GAAGACCAACGAAGCCCAAGC	0.438000														71			31		0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	28895678	28895678	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr13:28895678C>T	uc001usb.3	-	22	3381	c.3096G>A	c.(3094-3096)gaG>gaA	p.E1032E	FLT1_uc010aap.2_Silent_p.E37E|FLT1_uc010aaq.2_Silent_p.E157E|FLT1_uc001usa.3_Silent_p.E250E	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	1032	Protein kinase.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	CCACGTTGTTCTCAGATAAAA	0.373000														64			7		0	0	1	0	0
MYBPH	4608	broad.mit.edu	37	1	203140547	203140547	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:203140547G>A	uc001gzh.1	-	4	816	c.757C>T	c.(757-759)Ctg>Ttg	p.L253L		NM_004997	NP_004988	Q13203	MYBPH_HUMAN	Homo sapiens myosin binding protein H (MYBPH), mRNA.	253	Ig-like C2-type 1.				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		TTGGCCTCCAGGTCTTCCACG	0.627000														51			12		0	0	1	0	0
EFEMP1	2202	broad.mit.edu	37	2	56144909	56144909	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:56144909G>A	uc002rzi.3	-	4	909	c.408C>T	c.(406-408)aaC>aaT	p.N136N	EFEMP1_uc002rzj.3_Silent_p.N136N|EFEMP1_uc010ypc.2_Silent_p.N78N	NM_001039348	NP_001034438	Q12805	FBLN3_HUMAN	Homo sapiens EGF containing fibulin-like extracellular matrix protein 1 (EFEMP1), transcript variant 2, mRNA.	136					negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GGATGACAAAGTTATTTCGGC	0.592000														85			65		0	0	1	0	0
FPR2	2358	broad.mit.edu	37	19	52271984	52271984	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:52271984C>T	uc002pxr.3	+	1	118	c.73C>T	c.(73-75)Ctg>Ttg	p.L25L	FPR2_uc002pxs.4_Silent_p.L25L|FPR2_uc010epf.3_Silent_p.L25L|FPR2_uc021uyp.1_Silent_p.L25L	NM_001005738	NP_001453	P25090	FPR2_HUMAN	Homo sapiens formyl peptide receptor 2 (FPR2), transcript variant 2, mRNA.	25					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						CTACACTGTTCTGCGGATCCT	0.532000														99			17		0	0	1	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130332501	130332501	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:130332501C>T	uc010scd.2	+	3	1368	c.1368C>T	c.(1366-1368)tcC>tcT	p.S456S		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 15 (ADAMTS15), mRNA.	456	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		GCGTGGGCTCCAAGCCCTGTC	0.647000														101			27		0	0	1	0	0
DDX10	1662	broad.mit.edu	37	11	108562653	108562653	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:108562653C>T	uc001pkm.3	+	7	1091	c.1026C>T	c.(1024-1026)atC>atT	p.I342I	DDX10_uc001pkl.1_Silent_p.I342I	NM_004398	NP_004389	Q13206	DDX10_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 (DDX10), mRNA.	342	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		GTGTTTCTATCCTTGCACTCC	0.458000			T	NUP98	AML*									81			27		0	0	1	0	0
SVOP	55530	broad.mit.edu	37	12	109328001	109328001	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:109328001C>T	uc010sxh.1	-	10	1028	c.856G>A	c.(856-858)Gaa>Aaa	p.E286K		NM_018711	NP_061181	Q8N4V2	SVOP_HUMAN	Homo sapiens SV2 related protein homolog (rat) (SVOP), mRNA.	340						cell junction|integral to membrane|synaptic vesicle membrane	ion transmembrane transporter activity			breast(2)|lung(4)	6						TGGAAGAGTTCTGTGGTGAGT	0.488000														12			4		0	0	1	0	0
GUCY2D	3000	broad.mit.edu	37	17	7910813	7910813	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:7910813C>T	uc002gjt.2	+	5	1607	c.1533C>T	c.(1531-1533)acC>acT	p.T511T		NM_000180	NP_000171	Q02846	GUC2D_HUMAN	Homo sapiens guanylate cyclase 2D, membrane (retina-specific) (GUCY2D), mRNA.	511					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				ACGACATCACCTTTCTCCACC	0.572000														152			24		0	0	1	0	0
IKZF1	10320	broad.mit.edu	37	7	50468045	50468045	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:50468045C>T	uc003tow.4	+	7	1435	c.1280C>T	c.(1279-1281)tCg>tTg	p.S427L	IKZF1_uc022acq.1_Missense_Mutation_p.S284L|IKZF1_uc003tpa.4_Missense_Mutation_p.S192L|IKZF1_uc022acr.1_Missense_Mutation_p.S202L|IKZF1_uc022acs.1_Missense_Mutation_p.S157L|IKZF1_uc022act.1_Missense_Mutation_p.S330L|IKZF1_uc022acu.1_Missense_Mutation_p.S340L|IKZF1_uc003tox.4_Missense_Mutation_p.S385L|IKZF1_uc022acv.1_Missense_Mutation_p.S288L|IKZF1_uc022acw.1_Missense_Mutation_p.S298L|IKZF1_uc022acx.1_Missense_Mutation_p.S340L|IKZF1_uc022acy.1_Missense_Mutation_p.S234L|IKZF1_uc022acz.1_Missense_Mutation_p.S244L|IKZF1_uc011kck.2_Missense_Mutation_p.S340L|IKZF1_uc003toy.4_Missense_Mutation_p.S385L|IKZF1_uc003toz.4_Missense_Mutation_p.S397L|IKZF1_uc010kyx.3_Missense_Mutation_p.S167L	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA.	427					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				AACGGGCTGTCGCTCAAGGAG	0.672000			"""D,T"""	BCL6	"""ALL, DLBCL"""									43			4		0	0	1	0	0
ZNF766	90321	broad.mit.edu	37	19	52793753	52793753	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:52793753C>T	uc002pyt.1	+	4	1131	c.754C>T	c.(754-756)Cgt>Tgt	p.R252C	ZNF766_uc002pyr.1_Missense_Mutation_p.R237C|ZNF766_uc002pys.1_3'UTR	NM_001010851	NP_001010851	Q5HY98	ZN766_HUMAN	Homo sapiens zinc finger protein 766 (ZNF766), mRNA.	237					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		TTGGAGAATTCGTACAGGAGA	0.438000														26			16		0	0	1	0	0
GABRA2	2555	broad.mit.edu	37	4	46314596	46314596	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:46314596C>T	uc011bzc.1	-	3	640	c.228G>A	c.(226-228)ggG>ggA	p.G76G	GABRA2_uc003gxc.3_Silent_p.G131G|GABRA2_uc010igc.2_Silent_p.G131G|GABRA2_uc003gxe.3_Silent_p.G131G			P47869	GBRA2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 2 (GABRA2), transcript variant 1, mRNA.	131					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CTGATTTTTTCCCATTGTGAA	0.348000														63			12		0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	140265383	140265383	+	Missense_Mutation	SNP	G	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:140265383G>T	uc003etn.3	+	9	1724	c.1534G>T	c.(1534-1536)Gct>Tct	p.A512S	CLSTN2_uc003etm.2_Missense_Mutation_p.A512S	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	512					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						ACCACAGTTTGCTCAGTTCTT	0.527000										HNSCC(16;0.037)				41			16		1.99824e-07	2.0129e-07	1	1	0
OR2B11	127623	broad.mit.edu	37	1	247614919	247614919	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:247614919C>T	uc010pyx.2	-	0	366	c.366G>A	c.(364-366)atG>atA	p.M122I		NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 11 (OR2B11), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GGTCCAGGGCCATGGCGGCCA	0.612000														74			16		0	0	1	0	0
STK38	11329	broad.mit.edu	37	6	36483234	36483234	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:36483234G>A	uc003omg.3	-	5	1138	c.550C>T	c.(550-552)Ctg>Ttg	p.L184L	STK38_uc003omh.3_Silent_p.L184L|STK38_uc003omi.3_Silent_p.L184L	NM_007271	NP_009202	Q15208	STK38_HUMAN	Homo sapiens serine/threonine kinase 38 (STK38), mRNA.	184	Protein kinase.				intracellular protein kinase cascade|negative regulation of MAP kinase activity	MLL5-L complex|cytoplasm	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity			NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCTTCTGTCAGAGTGTCTTTT	0.418000														91			21		0	0	1	0	0
FOXJ3	22887	broad.mit.edu	37	1	42657234	42657234	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:42657234G>A	uc001che.3	-	10	1403	c.1091C>T	c.(1090-1092)tCg>tTg	p.S364L	FOXJ3_uc001chf.3_Missense_Mutation_p.S364L|FOXJ3_uc001chh.2_Missense_Mutation_p.S330L|FOXJ3_uc001chg.3_Missense_Mutation_p.S364L	NM_001198851	NP_001185780	Q9UPW0	FOXJ3_HUMAN	Homo sapiens forkhead box J3 (FOXJ3), transcript variant 3, mRNA.	364					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CTGTGCAACCGAATTACTGCC	0.577000														261			44		0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131831359	131831359	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:131831359C>T	uc003vra.4	-	27	5194	c.4965G>A	c.(4963-4965)gtG>gtA	p.V1655V	PLXNA4_uc003vqz.4_5'Flank	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1655						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CGTGGTTCTTCACTAGGTGCC	0.572000														400			30		0	0	1	0	0
USP31	57478	broad.mit.edu	37	16	23080856	23080856	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:23080856G>A	uc002dll.3	-	15	2570	c.2570C>T	c.(2569-2571)gCc>gTc	p.A857V	USP31_uc002dlk.3_Missense_Mutation_p.A129V|USP31_uc010vca.2_Missense_Mutation_p.A160V|USP31_uc010bxm.3_Missense_Mutation_p.A145V	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	Homo sapiens ubiquitin specific peptidase 31 (USP31), mRNA.	857	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.A857T(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		TTCATTGACGGCCAAGGGGCT	0.488000														30			10		0	0	1	0	0
BAHCC1	57597	broad.mit.edu	37	17	79418857	79418857	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:79418857C>T	uc002kaf.2	+	10	3954	c.3954C>T	c.(3952-3954)atC>atT	p.I1318I	BAHCC1_uc002kae.2_Silent_p.I610I|MIR3186_uc021ufa.1_5'Flank	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	Homo sapiens BAH domain and coiled-coil containing 1 (BAHCC1), mRNA.	1380							DNA binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(5)|urinary_tract(1)	26	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)			GCATGCAGATCCTGCAGCGCA	0.711000														14			5		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82595376	82595376	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:82595376G>A	uc003uhx.2	-	3	4017	c.3728C>T	c.(3727-3729)cCt>cTt	p.P1243L	PCLO_uc003uhv.2_Missense_Mutation_p.P1243L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1182					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.P1243P(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTTGTCTTCAGGGGTTGGCTT	0.378000														176			32		0	0	1	0	0
TDRD7	23424	broad.mit.edu	37	9	100222560	100222560	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:100222560C>T	uc004axj.3	+	6	1181	c.956C>T	c.(955-957)tCc>tTc	p.S319F	TDRD7_uc011lux.2_Missense_Mutation_p.S245F	NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN	Homo sapiens tudor domain containing 7 (TDRD7), mRNA.	319	Lotus/OST-HTH 2.				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				GTACCTCTATCCCCACTACCT	0.453000														40			7		0	0	1	0	0
INSC	387755	broad.mit.edu	37	11	15197503	15197503	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:15197503C>T	uc001mlz.3	+	2	384	c.273C>T	c.(271-273)atC>atT	p.I91I	INSC_uc001mly.3_Silent_p.I138I|INSC_uc001mma.3_Silent_p.I91I|INSC_uc010rcs.2_Silent_p.I91I|INSC_uc001mmb.3_Silent_p.I91I|INSC_uc001mmc.3_Silent_p.I91I	NM_001042536	NP_001036001	Q1MX18	INSC_HUMAN	Homo sapiens inscuteable homolog (Drosophila) (INSC), transcript variant 2, mRNA.	138					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						TGCGCAGGATCGGGCAGAAGC	0.652000														38			6		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137814118	137814118	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:137814118G>A	uc002tva.1	+	1	175	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K	THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_5'UTR	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GCCTCCAAAGGAAAGAAGTTG	0.537000														30			13		0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10307884	10307884	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:10307884G>A	uc002gmm.2	-	21	2546	c.2451C>T	c.(2449-2451)atC>atT	p.I817I	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	817					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle	p.C816G(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CATTATACTGGATGCAGAAAA	0.423000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					45			9		0	0	1	0	0
TCF21	6943	broad.mit.edu	37	6	134210647	134210647	+	Missense_Mutation	SNP	A	C	C			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:134210647A>C	uc003qei.4	+	0	389	c.112A>C	c.(112-114)Acc>Ccc	p.T38P	BC041459_uc003qeg.1_5'Flank|TCF21_uc003qej.2_Missense_Mutation_p.T38P	NM_003206	NP_938206	O43680	TCF21_HUMAN	Homo sapiens transcription factor 21 (TCF21), transcript variant 2, mRNA.	38					branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	E-box binding|androgen receptor binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		CAACGAGAGCACCGAGGAGAG	0.587000														72			12		0	0	1	0	0
CYP4F11	57834	broad.mit.edu	37	19	16040396	16040396	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:16040396C>T	uc002nbu.2	-	2	250	c.214G>A	c.(214-216)Gag>Aag	p.E72K	CYP4F11_uc010eab.1_Missense_Mutation_p.E72K|CYP4F11_uc002nbt.2_Missense_Mutation_p.E72K	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.	72					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						TTCATGCCCTCTTCCGTGGGA	0.522000														121			30		0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3319387	3319387	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:3319387G>A	uc001akf.3	+	5	791	c.709G>A	c.(709-711)Gaa>Aaa	p.E237K	PRDM16_uc001ake.3_Missense_Mutation_p.E237K|PRDM16_uc009vlh.3_5'UTR|PRDM16_uc001akc.3_Missense_Mutation_p.E237K	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.	237					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CGAGTGTGACGAACTCTTCCA	0.617000			T	EVI1	"""MDS, AML"""									70			13		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10435088	10435088	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:10435088C>T	uc010coi.3	-	21	2687	c.2559G>A	c.(2557-2559)aaG>aaA	p.K853K	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.K853K|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	853					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin 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						TGGCCATCTCCTTCTCAGTTT	0.433000														71			17		0	0	1	0	0
ENTPD7	57089	broad.mit.edu	37	10	101462315	101462315	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr10:101462315G>A	uc009xwl.3	+	12	1829	c.1474G>A	c.(1474-1476)Gga>Aga	p.G492R	ENTPD7_uc001kqa.4_Missense_Mutation_p.G490R	NM_020354	NP_065087	Q9NQZ7	ENTP7_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 7 (ENTPD7), mRNA.	490						cytoplasmic vesicle membrane|integral to membrane	hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		CTTACATGAAGGATTCCACTT	0.393000														8			9		0	0	1	0	0
CYP11B2	1585	broad.mit.edu	37	8	143998579	143998579	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:143998579C>T	uc003yxk.1	-	1	294	c.291G>A	c.(289-291)gtG>gtA	p.V97V		NM_000498	NP_000489	P19099	C11B2_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 2 (CYP11B2), nuclear gene encoding mitochondrial protein, mRNA.	97					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	GCAGCTTCTCCACATCCTCCG	0.607000									Familial Hyperaldosteronism type I					128			32		0	0	1	0	0
KRT38	8687	broad.mit.edu	37	17	39595490	39595490	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:39595490C>T	uc002hwq.1	-	2	1120	c.697G>A	c.(697-699)Gag>Aag	p.E233K		NM_006771	NP_006762	O76015	KRT38_HUMAN	Homo sapiens keratin 38 (KRT38), mRNA.	233	Coil 1B.|Rod.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				AGCTGCTCCTCCTTCAGGGAC	0.667000														43			12		0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	3	35729321	35729321	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:35729321G>A	uc011axy.2	+	4	564	c.352G>A	c.(352-354)Gat>Aat	p.D118N	ARPP21_uc003cga.3_Missense_Mutation_p.D118N|ARPP21_uc003cgb.3_Missense_Mutation_p.D118N|ARPP21_uc003cgf.3_5'Flank	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA.	118						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						AAAAGAAAAGGATAAAAACAA	0.353000														41			15		0	0	1	0	0
OR8B4	283162	broad.mit.edu	37	11	124294222	124294222	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:124294222G>A	uc010sak.2	-	0	546	c.546C>T	c.(544-546)ccC>ccT	p.P182P		NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 4 (OR8B4), mRNA.	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P182P(2)|p.L181F(1)		endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GCTGCAAGAGGGGGAGAACGT	0.507000														15			7		0	0	1	0	0
CCR3	1232	broad.mit.edu	37	3	46307675	46307675	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:46307675C>T	uc003cpl.2	+	2	2156	c.1125C>T	c.(1123-1125)gtC>gtT	p.V375V	CCR3_uc003cpg.2_Silent_p.V342V|CCR3_uc003cpk.2_Silent_p.V363V|CCR3_uc003cpi.2_Silent_p.V342V|CCR3_uc010hjb.2_Silent_p.V360V|CCR3_uc003cpj.2_Silent_p.V342V|CCR3_uc021wwz.1_Silent_p.V342V	NM_178329	NP_847899	P51677	CCR3_HUMAN	Homo sapiens chemokine (C-C motif) receptor 3 (CCR3), transcript variant 2, mRNA.	342					G-protein signaling, coupled to cAMP nucleotide second messenger|cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		CCAGCTCTGTCTCTCCATCCA	0.488000														45			10		0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119188292	119188292	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:119188292G>A	uc004bjt.2	-	21	3806	c.3705C>T	c.(3703-3705)atC>atT	p.I1235I	ASTN2_uc022bml.1_Silent_p.I931I|ASTN2_uc022bmm.1_Silent_p.I935I|ASTN2_uc004bjp.2_Silent_p.I387I|ASTN2_uc011lxr.2_Silent_p.I338I|ASTN2_uc011lxs.2_Silent_p.I338I|ASTN2_uc011lxt.2_Silent_p.I338I|ASTN2_uc004bjq.2_Silent_p.I338I	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	1286						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CGCGGCTCTGGATGTAGGCAC	0.577000														50			10		0	0	1	0	0
PHF20	51230	broad.mit.edu	37	20	34430609	34430609	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr20:34430609C>T	uc002xek.1	+	2	309	c.198C>T	c.(196-198)cgC>cgT	p.R66R	PHF20_uc002xei.1_Silent_p.R66R|PHF20_uc010gfo.1_Silent_p.R66R|PHF20_uc002xej.1_5'UTR|PHF20_uc002xel.1_5'UTR	NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN	Homo sapiens PHD finger protein 20 (PHF20), mRNA.	66					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					CTTATTTACGCCCTTTAGAGA	0.438000														49			8		0	0	1	0	0
FYCO1	79443	broad.mit.edu	37	3	46014621	46014621	+	Silent	SNP	C	T	T	rs149291592	byFrequency	TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:46014621C>T	uc011bal.1	-	4	610	c.498G>A	c.(496-498)tcG>tcA	p.S166S	FYCO1_uc003cpb.4_Silent_p.S166S	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	Homo sapiens FYVE and coiled-coil domain containing 1 (FYCO1), mRNA.	166	RUN.				transport	integral to membrane	metal ion binding|protein binding	p.A165V(1)		NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CAAAGCCCCTCGACGCCAGGT	0.483000														87			13		0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	132192811	132192811	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:132192811G>A	uc003vra.4	-	1	871	c.642C>T	c.(640-642)ttC>ttT	p.F214F	PLXNA4_uc003vrc.2_Silent_p.F214F|PLXNA4_uc003vrb.3_Silent_p.F214F	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	214	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AGACGTACGCGAACATGCCAT	0.502000														168			22		0	0	1	0	0
IL21	59067	broad.mit.edu	37	4	123542087	123542087	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:123542087G>A	uc003ies.2	-	0	125	c.80C>T	c.(79-81)tCa>tTa	p.S27L	BC045668_uc003iet.3_Non-coding_Transcript|IL21_uc010int.3_Missense_Mutation_p.S27L	NM_021803	NP_068575	Q9HBE4	IL21_HUMAN	Homo sapiens interleukin 21 (IL21), transcript variant 1, mRNA.	20					cell maturation|immune response|positive regulation of T cell proliferation|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|signal transduction	extracellular space	cytokine activity|interleukin-2 receptor binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						TTGGGAGCTTGATTTGTGGAC	0.418000														48			12		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168100393	168100393	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:168100393G>A	uc002udx.3	+	8	2580	c.2491G>A	c.(2491-2493)Gaa>Aaa	p.E831K	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.E656K|XIRP2_uc010fpq.3_Missense_Mutation_p.E609K|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	656					actin cytoskeleton organization	cell junction	actin binding	p.E831K(2)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CATTGAAAAGGAAAAAATAAT	0.388000														52			43		0	0	1	0	0
FCN2	2220	broad.mit.edu	37	9	137779021	137779021	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:137779021C>T	uc004cfg.1	+	7	712	c.702C>T	c.(700-702)tcC>tcT	p.S234S	FCN2_uc004cfh.1_Silent_p.S196S	NM_004108	NP_004099	Q15485	FCN2_HUMAN	Homo sapiens ficolin (collagen/fibrinogen domain containing lectin) 2 (hucolin) (FCN2), transcript variant SV0, mRNA.	234	Fibrinogen C-terminal.				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		CAGGAGATTCCCTGACGTTCC	0.478000														120			21		0	0	1	0	0
MAP7	9053	broad.mit.edu	37	6	136687111	136687111	+	Silent	SNP	C	T	T	rs143331676	byFrequency	TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:136687111C>T	uc011edg.2	-	9	1374	c.1125G>A	c.(1123-1125)ccG>ccA	p.P375P	MAP7_uc011edf.2_Silent_p.P330P|MAP7_uc010kgu.3_Silent_p.P367P|MAP7_uc011edh.2_Silent_p.P330P|MAP7_uc010kgv.3_Silent_p.P367P|MAP7_uc010kgs.3_Silent_p.P199P|MAP7_uc011edi.2_Silent_p.P199P|MAP7_uc010kgq.2_Silent_p.P251P|MAP7_uc003qgz.3_Silent_p.P345P|MAP7_uc003qha.2_Silent_p.P308P|MAP7_uc010kgr.2_Silent_p.P199P	NM_001198609	NP_001185538	Q14244	MAP7_HUMAN	Homo sapiens microtubule-associated protein 7 (MAP7), transcript variant 3, mRNA.	345	Pro-rich.				establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		AGGAGGATGTCGGTCTGGGTG	0.592000														70			16		0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70505037	70505037	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:70505037C>T	uc001dep.3	+	18	3446	c.3416C>T	c.(3415-3417)cCa>cTa	p.P1139L	LRRC7_uc009wbg.3_Missense_Mutation_p.P423L|LRRC7_uc001deq.3_Missense_Mutation_p.P380L	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	1139						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GAGCTGCCCCCAACTGATAGG	0.577000														96			16		0	0	1	0	0
SLC1A5	6510	broad.mit.edu	37	19	47285791	47285791	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:47285791C>T	uc002pfs.3	-	3	1293	c.673G>A	c.(673-675)Gag>Aag	p.E225K	SLC1A5_uc010xyh.2_Missense_Mutation_p.E23K|SLC1A5_uc002pfq.3_Missense_Mutation_p.E49K|SLC1A5_uc002pfr.3_5'UTR	NM_005628	NP_001138616	Q15758	AAAT_HUMAN	Homo sapiens solute carrier family 1 (neutral amino acid transporter), member 5 (SLC1A5), transcript variant 1, mRNA.	225					cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	CCCTCCACCTCCTGCCCCACG	0.607000														109			23		0	0	1	0	0
USP6	9098	broad.mit.edu	37	17	5073951	5073951	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:5073951G>A	uc002gau.1	+	35	5925	c.3695G>A	c.(3694-3696)gGg>gAg	p.G1232E	USP6_uc002gav.1_Missense_Mutation_p.G1232E|USP6_uc010ckz.1_Missense_Mutation_p.G915E	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	1232					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						AAAGAGAATGGGGCTGGGCAG	0.577000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts									34			6		0	0	1	0	0
SLFN12	55106	broad.mit.edu	37	17	33747315	33747315	+	Silent	SNP	T	C	C			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:33747315T>C	uc002hji.4	-	2	1502	c.1125A>G	c.(1123-1125)caA>caG	p.Q375Q	SLFN12_uc002hjj.4_Silent_p.Q375Q|SLFN12_uc010cts.3_Silent_p.Q375Q	NM_018042	NP_060512	Q8IYM2	SLN12_HUMAN	Homo sapiens schlafen family member 12 (SLFN12), mRNA.	375							ATP binding			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GTCTCTGCCGTTGCCATTCCA	0.403000														53			12		0	0	1	0	0
CACNG5	27091	broad.mit.edu	37	17	64876678	64876678	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:64876678G>A	uc010wqi.2	+	3	525	c.288G>A	c.(286-288)atG>atA	p.M96I	CACNG5_uc010wqj.2_Missense_Mutation_p.M96I	NM_145811	NP_665810	Q9UF02	CCG5_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 5 (CACNG5), mRNA.	96					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			AATTAGAGATGATCCGCTCAG	0.522000														58			14		0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702693	27702693	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr10:27702693C>T	uc001itu.2	-	0	605	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	163					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						TCTTCCTCTTCGTCCTTGGGT	0.662000														182			41		0	0	1	0	0
OSBPL6	114880	broad.mit.edu	37	2	179226427	179226427	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:179226427C>T	uc002uly.3	+	13	1791	c.1247C>T	c.(1246-1248)tCt>tTt	p.S416F	OSBPL6_uc002ulw.3_Missense_Mutation_p.S360F|OSBPL6_uc002ulx.3_Missense_Mutation_p.S391F|OSBPL6_uc010zfe.2_Missense_Mutation_p.S360F|OSBPL6_uc002ulz.3_Missense_Mutation_p.S391F|OSBPL6_uc002uma.3_Missense_Mutation_p.S395F	NM_001201480	NP_001188409	Q9BZF3	OSBL6_HUMAN	Homo sapiens oxysterol binding protein-like 6 (OSBPL6), transcript variant 3, mRNA.	391					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			CTTTTGAAGTCTGCATTTAAT	0.433000														77			27		0	0	1	0	0
ZNF614	80110	broad.mit.edu	37	19	52521264	52521264	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:52521264G>A	uc002pyj.3	-	3	637	c.235C>T	c.(235-237)Cca>Tca	p.P79S	ZNF614_uc002pyi.4_Missense_Mutation_p.P79S|ZNF614_uc010epj.3_5'UTR	NM_025040	NP_079316	Q8N883	ZN614_HUMAN	Homo sapiens zinc finger protein 614 (ZNF614), mRNA.	79	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CACTTACCTGGACAATTTTTA	0.403000														22			4		0	0	1	0	0
CILP2	148113	broad.mit.edu	37	19	19655067	19655067	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:19655067C>T	uc002nmw.4	+	7	1816	c.1731C>T	c.(1729-1731)ccC>ccT	p.P577P	CILP2_uc002nmv.4_Silent_p.P571P	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	571						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						ACACGATCCCCCTGGGCGAGC	0.632000														155			23		0	0	1	0	0
ADAM21	8747	broad.mit.edu	37	14	70925762	70925762	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:70925762G>A	uc021rvq.1	+	0	1546	c.1546G>A	c.(1546-1548)Gag>Aag	p.E516K	ADAM21_uc001xmd.3_Missense_Mutation_p.E516K	NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	Homo sapiens ADAM metallopeptidase domain 21 (ADAM21), mRNA.	516	Cys-rich.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GCATTGCAGGGAGATTTTTGG	0.423000														80			11		0	0	1	0	0
RGS3	5998	broad.mit.edu	37	9	116346682	116346682	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:116346682C>T	uc004bhq.3	+	20	3199	c.2990C>T	c.(2989-2991)tCc>tTc	p.S997F	RGS3_uc004bhs.3_Missense_Mutation_p.S887F|RGS3_uc004bht.3_Missense_Mutation_p.S716F|RGS3_uc010muy.3_Intron|RGS3_uc004bhv.3_Missense_Mutation_p.S318F|RGS3_uc010muz.1_Missense_Mutation_p.S336F|RGS3_uc004bhw.3_Intron|RGS3_uc011lxh.2_Missense_Mutation_p.S318F|RGS3_uc004bhx.3_Missense_Mutation_p.S318F|RGS3_uc004bhy.1_Missense_Mutation_p.S307F|RGS3_uc004bhz.3_Missense_Mutation_p.S339F	NM_144488	NP_652759	P49796	RGS3_HUMAN	Homo sapiens regulator of G-protein signaling 3 (RGS3), transcript variant 6, mRNA.	997					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						CACCACCTTTCCCTCTTCTTC	0.612000														43			7		0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16266996	16266996	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr22:16266996G>A	uc010gqp.2	-	8	1505	c.1453C>T	c.(1453-1455)Cca>Tca	p.P485S	POTEH_uc002zlg.1_Non-coding_Transcript|POTEH_uc002zlh.1_Missense_Mutation_p.P204S|POTEH_uc002zlj.1_Missense_Mutation_p.P320S	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.	485										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TTCCTTGGTGGAATTAATCCA	0.438000														266			14		0	0	1	0	0
TTC29	83894	broad.mit.edu	37	4	147830293	147830293	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:147830293C>T	uc003ikx.4	-	5	613	c.363G>A	c.(361-363)agG>agA	p.R121R	TTC29_uc003ikw.4_Silent_p.R95R|TTC29_uc010ipc.3_Non-coding_Transcript|TTC29_uc010ipd.1_Silent_p.R95R	NM_031956	NP_114162	Q8NA56	TTC29_HUMAN	Homo sapiens tetratricopeptide repeat domain 29 (TTC29), mRNA.	95							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TCGCAGCCTCCCTCAGGGCAT	0.547000														47			7		0	0	1	0	0
TBX15	6913	broad.mit.edu	37	1	119427740	119427740	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:119427740G>A	uc001ehl.1	-	7	1421	c.1106C>T	c.(1105-1107)tCc>tTc	p.S369F	TBX15_uc009whj.1_Missense_Mutation_p.S193F	NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	Homo sapiens T-box 15 (TBX15), mRNA.	475						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		CTGAAACTGGGAAGTGGGAAA	0.572000														32			12		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179597238	179597238	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:179597238G>A	uc021vsy.1	-	52	13043	c.12818C>T	c.(12817-12819)tCg>tTg	p.S4273L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S934L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5200							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S4273L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTACGTGCCCGAATCAGAGGT	0.418000														15			17		0	0	1	0	0
CLDN10	9071	broad.mit.edu	37	13	96230192	96230192	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr13:96230192G>A	uc001vmh.2	+	4	672	c.611G>A	c.(610-612)cGg>cAg	p.R204Q	CLDN10_uc001vmg.2_Missense_Mutation_p.R202Q|CLDN10_uc010tii.1_Missense_Mutation_p.R183Q	NM_006984	NP_008915	P78369	CLD10_HUMAN	Homo sapiens claudin 10 (CLDN10), transcript variant b, mRNA.	204					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.18)			ATGTCTTCTCGGACAAAGTAT	0.388000														43			10		0	0	1	0	0
SPOCK3	50859	broad.mit.edu	37	4	167675732	167675732	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:167675732G>A	uc011cjq.1	-	6	951	c.894C>T	c.(892-894)ttC>ttT	p.F298F	SPOCK3_uc021xuf.1_Silent_p.F289F|SPOCK3_uc011cjr.1_Silent_p.F169F|SPOCK3_uc003iri.1_Silent_p.F289F|SPOCK3_uc011cjs.1_Silent_p.F238F|SPOCK3_uc003irj.1_Silent_p.F286F|SPOCK3_uc011cjt.1_Silent_p.F197F|SPOCK3_uc011cjp.2_Silent_p.F246F|SPOCK3_uc011cju.1_Silent_p.F193F|SPOCK3_uc011cjv.1_Silent_p.F191F|SPOCK3_uc003irk.4_Silent_p.F286F	NM_001204353	NP_001191282	Q9BQ16	TICN3_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA.	289					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)		CACAAGAATTGAAGAATGCCT	0.398000														43			11		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103162526	103162527	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:103162526_103162527CC>TT	uc022ajr.1	-	47	7770_7771	c.7610_7611GG>AA	c.(7609-7611)ggg>gAA	p.G2537E	RELN_uc022ajq.1_Missense_Mutation_p.G2537E|RELN_uc010liz.3_Missense_Mutation_p.G2537E	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	2537					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.G2536G(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TACTCAATTTCCCTCCGTTCAC	0.520000														157			20		0	0	1	0	0
NPAT	4863	broad.mit.edu	37	11	108031659	108031659	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:108031659G>A	uc001pjz.4	-	16	4256	c.4154C>T	c.(4153-4155)tCt>tTt	p.S1385F	NPAT_uc010rvv.2_Missense_Mutation_p.S441F	NM_002519	NP_002510	Q14207	NPAT_HUMAN	Homo sapiens nuclear protein, ataxia-telangiectasia locus (NPAT), mRNA.	1385					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		ATTTTTACTAGAAGGACGAGA	0.338000														24			3		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76525587	76525587	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:76525587C>T	uc010dhp.2	-	21	3599	c.3474G>A	c.(3472-3474)gaG>gaA	p.E1158E		NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CTGGCATCTCCTCCCCGTAGG	0.597000														130			35		0	0	1	0	0
EDNRB	1910	broad.mit.edu	37	13	78492579	78492579	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr13:78492579C>T	uc001vkp.1	-	1	553	c.400G>A	c.(400-402)Gag>Aag	p.E134K	BX647243_uc001vks.3_5'Flank|EDNRB_uc001vkq.1_Missense_Mutation_p.E44K|EDNRB_uc001vko.2_Missense_Mutation_p.E44K|EDNRB_uc010aez.1_Missense_Mutation_p.E44K	NM_001201397	NP_001188326	P24530	EDNRB_HUMAN	Homo sapiens endothelin receptor type B (EDNRB), transcript variant 4, mRNA.	44					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	GTCATTATCTCTGCGGTTTGC	0.627000														71			13		0	0	1	0	0
OR2M4	26245	broad.mit.edu	37	1	248402361	248402361	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:248402361C>T	uc010pzh.2	+	0	131	c.131C>T	c.(130-132)tCc>tTc	p.S44F		NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 4 (OR2M4), mRNA.	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I43F(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|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;0.0245)			GAAAATATTTCCATGGTTCTC	0.478000														84			19		0	0	1	0	0
AIM1	202	broad.mit.edu	37	6	106967944	106967944	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:106967944T>C	uc003prh.3	+	1	2549	c.1637T>C	c.(1636-1638)cTc>cCc	p.L546P		NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Homo sapiens absent in melanoma 1 (AIM1), mRNA.	546							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TCCAGAGTCCTCGTCCAGGTC	0.542000														46			11		0	0	1	0	0
CXorf22	170063	broad.mit.edu	37	X	35971754	35971754	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chrX:35971754G>A	uc004ddj.3	+	6	1158	c.1092G>A	c.(1090-1092)caG>caA	p.Q364Q	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	364										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						CATACAGACAGGACTATGCTC	0.323000														28			11		0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125521373	125521373	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:125521373G>A	uc010flu.3	+	14	2723	c.2359G>A	c.(2359-2361)Gac>Aac	p.D787N	CNTNAP5_uc002tno.3_Missense_Mutation_p.D786N	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	786	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.R787*(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TTGCTATGGTGACCGTGAGTA	0.458000														8			8		0	0	1	0	0
DACH2	117154	broad.mit.edu	37	X	85950044	85950044	+	Missense_Mutation	SNP	G	A	A	rs149971925	byFrequency	TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chrX:85950044G>A	uc004eew.2	+	4	963	c.793G>A	c.(793-795)Gat>Aat	p.D265N	DACH2_uc004eex.2_Missense_Mutation_p.D252N|DACH2_uc010nmq.2_Missense_Mutation_p.D131N|DACH2_uc011mra.1_Missense_Mutation_p.D98N|DACH2_uc010nmr.2_Missense_Mutation_p.D46N	NM_053281	NP_001132987	Q96NX9	DACH2_HUMAN	Homo sapiens dachshund homolog 2 (Drosophila) (DACH2), transcript variant 1, mRNA.	265					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						ATCCTCCTGGGATAAAGATAA	0.438000														15			6		0	0	1	0	0
GRHL2	79977	broad.mit.edu	37	8	102585978	102585978	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:102585978G>A	uc010mbu.3	+	5	1147	c.817G>A	c.(817-819)Gga>Aga	p.G273R	GRHL2_uc011lhi.1_Missense_Mutation_p.G273R	NM_024915	NP_079191	Q6ISB3	GRHL2_HUMAN	Homo sapiens grainyhead-like 2 (Drosophila) (GRHL2), mRNA.	273						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			CCTCAACAAAGGACAGTTCTA	0.507000														52			17		0	0	1	0	0
CDH4	1002	broad.mit.edu	37	20	60498607	60498607	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr20:60498607G>A	uc002ybn.2	+	9	1561	c.1473G>A	c.(1471-1473)acG>acA	p.T491T	CDH4_uc002ybr.2_Silent_p.T454T|CDH4_uc002ybp.2_Silent_p.T417T	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	491	Cadherin 3.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			TCCAGTCCACGGCAGGGGTGA	0.612000														50			11		0	0	1	0	0
SGOL2	151246	broad.mit.edu	37	2	201434420	201434420	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:201434420G>A	uc002uvw.2	+	5	621	c.508G>A	c.(508-510)Gat>Aat	p.D170N	SGOL2_uc002uvv.4_Missense_Mutation_p.D170N|SGOL2_uc010zhd.1_Missense_Mutation_p.D170N|SGOL2_uc010zhe.1_Missense_Mutation_p.D170N	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN	Homo sapiens shugoshin-like 2 (S. pombe) (SGOL2), transcript variant 1, mRNA.	170					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TGAAGATGAAGATAAAGAGAA	0.328000														27			21		0	0	1	0	0
MORC2	22880	broad.mit.edu	37	22	31338098	31338098	+	Splice_Site	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr22:31338098C>T	uc003aje.1	-	8	1764	c.400_splice	c.e8+1	p.G134_splice		NM_014941	NP_055756	Q9Y6X9	MORC2_HUMAN	Homo sapiens MORC family CW-type zinc finger 2 (MORC2), mRNA.	196							ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						AGCCTACTTACCGCTGTCCCC	0.502000														78			16		0	0	1	0	0
C12orf49	79794	broad.mit.edu	37	12	117158139	117158139	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:117158139A>T	uc001tvz.1	-	2	520	c.382T>A	c.(382-384)Tat>Aat	p.Y128N	C12orf49_uc009zwm.1_Missense_Mutation_p.Y98N	NM_024738	NP_079014	Q9H741	CL049_HUMAN	Homo sapiens chromosome 12 open reading frame 49 (C12orf49), mRNA.	128	Cys-rich.					extracellular region				endometrium(1)|lung(1)|ovary(1)|skin(1)	4	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0281)		CAGTACTCATAGGCGCTGCAG	0.532000														62			19		0	0	1	0	0
CAB39L	81617	broad.mit.edu	37	13	49951177	49951177	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr13:49951177G>A	uc001vcw.3	-	2	700	c.202C>T	c.(202-204)Cag>Tag	p.Q68*	CAB39L_uc001vcx.3_Nonsense_Mutation_p.Q68*|CAB39L_uc010adf.3_Nonsense_Mutation_p.Q65*	NM_030925	NP_112187	Q9H9S4	CB39L_HUMAN	Homo sapiens calcium binding protein 39-like (CAB39L), transcript variant 1, mRNA.	68					cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1)	12		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)		TGTGCTAGCTGAGCCACTGCT	0.468000														77			11		0	0	1	0	0
FAM107B	83641	broad.mit.edu	37	10	14816561	14816561	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr10:14816561C>T	uc001ina.1	-	0	336	c.102G>A	c.(100-102)acG>acA	p.T34T	FAM107B_uc010qbu.1_Non-coding_Transcript	NM_031453	NP_113641	Q9H098	F107B_HUMAN	Homo sapiens family with sequence similarity 107, member B (FAM107B), mRNA.	0										breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CACTCTCCCTCGTATTCCCAA	0.542000														71			20		0	0	1	0	0
ZNF527	84503	broad.mit.edu	37	19	37880080	37880080	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:37880080C>T	uc010efk.1	+	4	1240	c.1129C>T	c.(1129-1131)Cag>Tag	p.Q377*	ZNF527_uc002ogf.3_Nonsense_Mutation_p.Q345*|ZNF527_uc010xtq.1_Non-coding_Transcript	NM_032453	NP_115829	Q8NB42	ZN527_HUMAN	Homo sapiens zinc finger protein 527 (ZNF527), mRNA.	377					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGTTGAACATCAGAGAATTCA	0.438000														45			7		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110509206	110509206	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:110509206G>A	uc003yne.3	+	63	10490	c.10386G>A	c.(10384-10386)ggG>ggA	p.G3462G		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3462					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GTTTATATGGGATCTATATGA	0.383000										HNSCC(38;0.096)				68			20		0	0	1	0	0
LMX1A	4009	broad.mit.edu	37	1	165173164	165173164	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:165173164G>A	uc001gcz.2	-	8	1296	c.1102C>T	c.(1102-1104)Ccc>Tcc	p.P368S	LMX1A_uc021pdz.1_Missense_Mutation_p.P368S|LMX1A_uc021pdy.1_Missense_Mutation_p.P119S|LMX1A_uc001gcw.2_Missense_Mutation_p.P86S	NM_001174069	NP_796372	Q8TE12	LMX1A_HUMAN	Homo sapiens LIM homeobox transcription factor 1, alpha (LMX1A), transcript variant 4, mRNA.	368						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P368L(1)		NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					TGGTCAATGGGGTTTCCCACT	0.488000														76			10		0	0	1	0	0
TGS1	96764	broad.mit.edu	37	8	56725651	56725651	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:56725651C>T	uc003xsj.4	+	11	2800	c.2413C>T	c.(2413-2415)Ctt>Ttt	p.L805F	TGS1_uc010lyh.3_Silent_p.F631F	NM_024831	NP_079107	Q96RS0	TGS1_HUMAN	Homo sapiens trimethylguanosine synthase 1 (TGS1), mRNA.	805	Sufficient for catalytic activity.				RNA capping|cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity	p.L805I(2)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			TGTTTATTTTCTTCCAAGAAA	0.323000														41			6		0	0	1	0	0
GPRIN3	285513	broad.mit.edu	37	4	90169315	90169315	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:90169315C>T	uc003hsm.1	-	1	2466	c.1947G>A	c.(1945-1947)gtG>gtA	p.V649V	GPRIN3_uc021xqb.1_Silent_p.V649V	NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN	Homo sapiens GPRIN family member 3 (GPRIN3), mRNA.	649								p.V649V(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		CAGCTGCTGTCACATTTAACT	0.572000														70			27		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13735385	13735385	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:13735385G>A	uc003jfd.2	-	67	11658	c.11616C>T	c.(11614-11616)atC>atT	p.I3872I	DNAH5_uc003jfc.2_Silent_p.I40I	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3872					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)					TCATGTGCTCGATGATATTAG	0.443000									Kartagener syndrome					31			6		0	0	1	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110451785	110451785	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:110451785C>T	uc001pkz.1	-	15	2170	c.1885G>A	c.(1885-1887)Gag>Aag	p.E629K	ARHGAP20_uc001pky.1_Missense_Mutation_p.E606K|ARHGAP20_uc009yyb.1_Missense_Mutation_p.E593K|ARHGAP20_uc001pla.1_Missense_Mutation_p.E593K|ARHGAP20_uc001plb.2_Missense_Mutation_p.E172K	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Homo sapiens Rho GTPase activating protein 20 (ARHGAP20), mRNA.	629					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		CCTTCCACCTCGGGCTGGTCA	0.478000														77			14		0	0	1	0	0
GLCE	26035	broad.mit.edu	37	15	69561363	69561363	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:69561363T>C	uc002ary.1	+	4	1862	c.1634T>C	c.(1633-1635)cTt>cCt	p.L545P		NM_015554	NP_056369	O94923	GLCE_HUMAN	Homo sapiens glucuronic acid epimerase (GLCE), mRNA.	545					heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						ATGGAATCTCTTAAAGCCATG	0.463000														80			19		0	0	1	0	0
ZNF211	10520	broad.mit.edu	37	19	58146083	58146083	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:58146083C>T	uc002qpr.2	+	3	516	c.213C>T	c.(211-213)ttC>ttT	p.F71F	ZNF211_uc010yhb.1_Silent_p.F63F|ZNF211_uc002qpp.2_Silent_p.F72F|ZNF211_uc002qpq.2_Silent_p.F59F|ZNF211_uc002qpt.2_Silent_p.F71F|ZNF211_uc010yhc.1_Silent_p.F71F|ZNF211_uc010yhe.1_5'UTR|ZNF211_uc010yhd.1_5'UTR	NM_006385	NP_006376	Q13398	ZN211_HUMAN	Homo sapiens zinc finger protein 211 (ZNF211), transcript variant 1, mRNA.	59	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ACCTGTACTTCGATGTGATGC	0.512000														104			27		0	0	1	0	0
ZSCAN18	65982	broad.mit.edu	37	19	58596472	58596472	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:58596472C>T	uc010yht.1	-	6	1311	c.1281G>A	c.(1279-1281)agG>agA	p.R427R	ZSCAN18_uc002qrj.3_Silent_p.R370R|ZSCAN18_uc010yhs.1_Silent_p.R235R|ZSCAN18_uc002qrh.2_Silent_p.R371R|ZSCAN18_uc002qri.2_Silent_p.R371R|ZSCAN18_uc002qrk.1_3'UTR|ZSCAN18_uc002qrl.2_3'UTR	NM_001145542	NP_001139014	Q8TBC5	ZSC18_HUMAN	Homo sapiens zinc finger and SCAN domain containing 18 (ZSCAN18), transcript variant 1, mRNA.	371					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CGGGGTGCGGCCTCTTGGTTC	0.721000														21			9		0	0	1	0	0
OR51D1	390038	broad.mit.edu	37	11	4661698	4661698	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:4661698C>T	uc010qyk.2	+	0	754	c.678C>T	c.(676-678)ttC>ttT	p.F226F		NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily D, member 1 (OR51D1), mRNA.	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACTCTCTCTTCATTGGCTTCT	0.498000														62			13		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179587872	179587872	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:179587872C>T	uc021vsy.1	-	71	18355	c.18130G>A	c.(18130-18132)Gaa>Aaa	p.E6044K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E2705K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6971	Ig-like 41.						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)			TTCAGAATTTCCAGGATACAA	0.393000														18			7		0	0	1	0	0
DNAJC6	9829	broad.mit.edu	37	1	65852574	65852574	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:65852574C>T	uc001dce.1	+	7	1276	c.1075C>T	c.(1075-1077)Cac>Tac	p.H359Y	DNAJC6_uc001dcc.1_Missense_Mutation_p.H333Y|DNAJC6_uc001dcd.1_Missense_Mutation_p.H302Y|DNAJC6_uc010opc.1_Missense_Mutation_p.H289Y	NM_014787	NP_055602	O75061	AUXI_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 6 (DNAJC6), mRNA.	302	C2 tensin-type.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	SH3 domain binding|heat shock protein binding|protein tyrosine phosphatase activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						TTCCATGTATCACTTGAGGTC	0.413000														60			14		0	0	1	0	0
P4HA2	8974	broad.mit.edu	37	5	131539494	131539494	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:131539494G>A	uc003kwh.3	-	9	1762	c.1198C>T	c.(1198-1200)Cgt>Tgt	p.R400C	P4HA2_uc003kwg.3_Missense_Mutation_p.R400C|P4HA2_uc003kwi.3_Missense_Mutation_p.R400C|P4HA2_uc003kwk.3_Missense_Mutation_p.R400C|P4HA2_uc003kwl.3_Missense_Mutation_p.R400C|P4HA2_uc003kwj.3_Missense_Mutation_p.R400C	NM_004199	NP_004190	O15460	P4HA2_HUMAN	Homo sapiens prolyl 4-hydroxylase, alpha polypeptide II (P4HA2), transcript variant 1, mRNA.	400						endoplasmic reticulum lumen	L-ascorbic acid binding|electron carrier activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	TGCATCCGACGATTTACTCGG	0.483000														38			4		0	0	1	0	0
SULT1C3	442038	broad.mit.edu	37	2	108881765	108881765	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:108881765G>A	uc010ywo.2	+	6	873	c.873G>A	c.(871-873)aaG>aaA	p.K291K		NM_001008743	NP_001008743	Q6IMI6	ST1C3_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 3 (SULT1C3), mRNA.	291						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						ACTACCAGAAGAAGATGGCAG	0.453000														66			10		0	0	1	0	0
LDLR	3949	broad.mit.edu	37	19	11224014	11224014	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:11224014G>A	uc002mqk.4	+	8	1434	c.1247G>A	c.(1246-1248)cGg>cAg	p.R416Q	LDLR_uc010xlk.2_Missense_Mutation_p.R416Q|LDLR_uc010xll.2_Missense_Mutation_p.R375Q|LDLR_uc021upc.1_Missense_Mutation_p.R295Q|LDLR_uc010xln.2_Missense_Mutation_p.R289Q|LDLR_uc010xlo.2_Missense_Mutation_p.R248Q|LDLR_uc010xlm.2_Missense_Mutation_p.R269Q|LDLR_uc021upd.1_Missense_Mutation_p.R153Q	NM_000527	NP_000518	P01130	LDLR_HUMAN	Homo sapiens low density lipoprotein receptor (LDLR), transcript variant 1, mRNA.	416			R -> Q (in FH; German patient).|R -> W (in FH).		cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	ACGCTGGACCGGAGCGAGTAC	0.622000														68			18		0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23792410	23792410	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:23792410G>A	uc003sws.4	+	8	1159	c.1092G>A	c.(1090-1092)atG>atA	p.M364I	STK31_uc003swt.4_Missense_Mutation_p.M341I|STK31_uc011jze.2_Missense_Mutation_p.M364I|STK31_uc010kuq.3_Missense_Mutation_p.M341I	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	364							ATP binding|nucleic acid binding|protein serine/threonine kinase activity	p.M364I(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ATACCAGAATGAAAAATCTGG	0.338000														62			6		0	0	1	0	0
AOC2	314	broad.mit.edu	37	17	41001332	41001332	+	Silent	SNP	C	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:41001332C>A	uc002ibu.3	+	1	1853	c.1818C>A	c.(1816-1818)ccC>ccA	p.P606P	AOC2_uc002ibt.3_Intron|AOC3_uc002ibv.3_5'Flank	NM_009590	NP_033720	O75106	AOC2_HUMAN	Homo sapiens amine oxidase, copper containing 2 (retina-specific) (AOC2), transcript variant 2, mRNA.	606					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TCCACAGCCCCCTTGGCATAC	0.627000														236			53		4.60343e-24	4.65715e-24	1	1	0
CHSY3	337876	broad.mit.edu	37	5	129520869	129520869	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:129520869G>A	uc003kvd.3	+	2	2034	c.2034G>A	c.(2032-2034)caG>caA	p.Q678Q		NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	Homo sapiens chondroitin sulfate synthase 3 (CHSY3), mRNA.	678						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		AAGGGTACCAGAACAAGTACC	0.443000														29			11		0	0	1	0	0
SMC6	79677	broad.mit.edu	37	2	17913100	17913100	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:17913100G>A	uc002rco.3	-	5	685	c.389C>T	c.(388-390)gCc>gTc	p.A130V	SMC6_uc010exo.3_Missense_Mutation_p.A130V|SMC6_uc002rcn.3_Missense_Mutation_p.A130V|SMC6_uc002rcp.1_Missense_Mutation_p.A156V|SMC6_uc002rcq.2_Missense_Mutation_p.A156V|SMC6_uc002rcr.1_Missense_Mutation_p.A130V	NM_001142286	NP_078900	Q96SB8	SMC6_HUMAN	Homo sapiens structural maintenance of chromosomes 6 (SMC6), transcript variant 1, mRNA.	130					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GGCTTTAAAGGCATCATCTCC	0.358000														36			21		0	0	1	0	0
TSSK2	23617	broad.mit.edu	37	22	19119651	19119651	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr22:19119651G>A	uc002zow.2	+	0	1331	c.739G>A	c.(739-741)Gac>Aac	p.D247N	DGCR14_uc002zou.3_3'UTR	NM_053006	NP_443732	Q96PF2	TSSK2_HUMAN	Homo sapiens testis-specific serine kinase 2 (TSSK2), mRNA.	247	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					CGAGTGCAAGGACCTCATCTA	0.612000														96			31		0	0	1	0	0
SP140	11262	broad.mit.edu	37	2	231101813	231101813	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:231101813C>T	uc002vql.3	+	1	190	c.75C>T	c.(73-75)atC>atT	p.I25I	SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqj.3_Silent_p.I25I|SP140_uc002vqk.2_Silent_p.I25I|SP140_uc002vqn.3_Silent_p.I25I|SP140_uc002vqm.3_Silent_p.I25I|SP140_uc010fxl.3_Silent_p.I25I	NM_007237	NP_009168	Q13342	LY10_HUMAN	Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA.	25	HSR.				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E24D(1)		NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TCGCAGAGATCCAGAACGTAG	0.448000														24			8		0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	97356782	97356782	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:97356782G>A	uc010how.1	+	13	2683	c.2640G>A	c.(2638-2640)atG>atA	p.M880I	EPHA6_uc011bgp.1_3'UTR|EPHA6_uc003drs.4_Missense_Mutation_p.M272I|EPHA6_uc003drr.4_Missense_Mutation_p.M272I|EPHA6_uc003drt.3_Missense_Mutation_p.M272I|EPHA6_uc010hox.1_Non-coding_Transcript	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	785	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CATCAGGCATGAAGTATCTTT	0.418000														168			39		0	0	1	0	0
DHX35	60625	broad.mit.edu	37	20	37631466	37631466	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr20:37631466C>T	uc002xjh.3	+	9	837	c.807C>T	c.(805-807)caC>caT	p.H269H	DHX35_uc010zwa.2_Silent_p.H114H|DHX35_uc010zwc.2_Silent_p.H238H|DHX35_uc010zwb.2_Silent_p.H114H	NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 35 (DHX35), transcript variant 1, mRNA.	269	Helicase C-terminal.					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				TGAAAATTCACCAGACAGAGG	0.388000														84			17		0	0	1	0	0
CD300LD	100131439	broad.mit.edu	37	17	72584938	72584939	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:72584938_72584939CC>TT	uc002jkz.2	-	1	119_120	c.90_91GG>AA	c.(88-93)tcggag>tcAAag	p.E31K	C17orf77_uc002jla.1_Intron	NM_001115152	NP_001108624	Q6UXZ3	CLM4_HUMAN	Homo sapiens CD300 molecule-like family member d (CD300LD), mRNA.	31	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			large_intestine(1)|lung(2)|prostate(1)|stomach(1)	5						GAGCCCTGCTCCGAGCCATTCA	0.525000														112			18		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34006750	34006750	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:34006750C>T	uc001bxm.1	-	58	9614	c.9437G>A	c.(9436-9438)gGa>gAa	p.G3146E	CSMD2_uc001bxn.1_Missense_Mutation_p.G3002E	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	3118	Sushi 25.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGGCTTGGTTCCATTCCATGT	0.488000														142			31		0	0	1	0	0
KRT82	3888	broad.mit.edu	37	12	52788966	52788966	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:52788966G>A	uc001sai.1	-	8	1450	c.1335C>T	c.(1333-1335)tcC>tcT	p.S445S		NM_033033	NP_149022	Q9NSB4	KRT82_HUMAN	Homo sapiens keratin 82 (KRT82), mRNA.	445	Tail.					keratin filament	protein binding|structural constituent of epidermis			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		AGGCGCCTTTGGAGCTGCTCA	0.627000														34			9		0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103128461	103128461	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:103128461G>A	uc001phn.1	+	69	10751	c.10607G>A	c.(10606-10608)cGa>cAa	p.R3536Q	DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Missense_Mutation_p.R3529Q	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	3529					Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CTTTTCCAACGAGCTCTACAA	0.363000														12			3		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140208028	140208028	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:140208028C>T	uc003lho.2	+	0	379	c.352C>T	c.(352-354)Cat>Tat	p.H118Y	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Missense_Mutation_p.H118Y|PCDHAC2_uc011dab.2_Missense_Mutation_p.H118Y	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	133	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGGTTTTCCATGTGGACGT	0.572000														229			44		0	0	1	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12860056	12860056	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:12860056C>T	uc002gnr.4	+	14	1662	c.1335C>T	c.(1333-1335)ttC>ttT	p.F445F	ARHGAP44_uc010vvk.2_Silent_p.F445F|ARHGAP44_uc010vvl.2_Silent_p.F445F|ARHGAP44_uc002gns.4_Silent_p.F245F|ARHGAP44_uc010vvm.2_Silent_p.F445F|ARHGAP44_uc010vvn.2_Non-coding_Transcript|ARHGAP44_uc002gnt.1_Silent_p.F168F	NM_014859	NP_055674	Q17R89	RHG44_HUMAN	Homo sapiens Rho GTPase activating protein 44 (ARHGAP44), mRNA.	445	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						ACTGGTTCTTCCCTGGGGGTA	0.522000														51			7		0	0	1	0	0
TUBA3C	7278	broad.mit.edu	37	13	19751395	19751395	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr13:19751395C>T	uc009zzj.3	-	3	833	c.728G>A	c.(727-729)cGa>cAa	p.R243Q		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	243					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.R243Q(2)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CCCGTCAAATCGCAGGGAGGC	0.597000														201			41		0	0	1	0	0
OR2M1P	388762	broad.mit.edu	37	1	248285968	248285968	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:248285968C>T	uc001idy.1	+	0	531	c.531C>T	c.(529-531)ctC>ctT	p.L177L						Homo sapiens olfactory receptor, family 2, subfamily M, member 1 pseudogene (OR2M1P), non-coding RNA.																		CCTCTCACCTCATGGTGGTGG	0.493000														159			24		0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129559536	129559536	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:129559536C>T	uc009zyl.1	-	8	2512	c.2184G>A	c.(2182-2184)ggG>ggA	p.G728G	TMEM132D_uc001uia.2_Silent_p.G266G	NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	728						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AGAAGTCTTTCCCATCGTAAA	0.458000														74			21		0	0	1	0	0
SERPINI1	5274	broad.mit.edu	37	3	167508198	167508198	+	Missense_Mutation	SNP	G	A	A	rs61750375	byFrequency	TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:167508198G>A	uc003ffa.4	+	2	487	c.289G>A	c.(289-291)Gta>Ata	p.V97I	SERPINI1_uc003ffb.4_Missense_Mutation_p.V97I	NM_001122752	NP_005016	Q99574	NEUS_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (neuroserpin), member 1 (SERPINI1), transcript variant 2, mRNA.	97					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						TTCAAACATGGTAACTGCTAA	0.338000														51			10		0	0	1	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58565236	58565236	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:58565236G>A	uc002qrc.1	+	5	1291	c.1044G>A	c.(1042-1044)agG>agA	p.R348R		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	Homo sapiens zinc finger and SCAN domain containing 1 (ZSCAN1), mRNA.	348					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		AGCCACCGAGGAAGAAAGCCC	0.667000														43			8		0	0	1	0	0
CCDC13	152206	broad.mit.edu	37	3	42787503	42787503	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:42787503A>G	uc003cly.4	-	6	821	c.737T>C	c.(736-738)gTt>gCt	p.V246A		NM_144719	NP_653320	Q8IYE1	CCD13_HUMAN	Homo sapiens coiled-coil domain containing 13 (CCDC13), mRNA.	246										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						GTCTTCCCCAACCTCTCTGGC	0.512000														95			16		0	0	1	0	0
BARX2	8538	broad.mit.edu	37	11	129306729	129306729	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:129306729C>T	uc001qfc.4	+	1	321	c.271C>T	c.(271-273)Ccg>Tcg	p.P91S		NM_003658	NP_003649	Q9UMQ3	BARX2_HUMAN	Homo sapiens BARX homeobox 2 (BARX2), mRNA.	91										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		CCCTGCCACCCCGGGAATCGC	0.677000														174			38		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13771045	13771045	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:13771045C>T	uc003jfd.2	-	55	9460	c.9418G>A	c.(9418-9420)Gaa>Aaa	p.E3140K	DNAH5_uc003jfc.2_5'Flank	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3140	AAA 4 (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)					TTCTTGATTTCCAAACTGCAG	0.423000									Kartagener syndrome					46			8		0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131831326	131831326	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:131831326C>T	uc003vra.4	-	27	5227	c.4998G>A	c.(4996-4998)ggG>ggA	p.G1666G	PLXNA4_uc003vqz.4_5'Flank	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1666						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TCCCCCGGTCCCCCTCCTTCT	0.577000														416			70		0	0	1	0	0
PDE1B	5153	broad.mit.edu	37	12	54963026	54963026	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:54963026G>A	uc001sgd.2	+	3	679	c.286G>A	c.(286-288)Gag>Aag	p.E96K	PDE1B_uc010soz.2_5'UTR|PDE1B_uc010spa.1_Missense_Mutation_p.E55K|PDE1B_uc001sge.3_Missense_Mutation_p.E76K|PDE1B_uc001sgf.3_Intron|PDE1B_uc009znq.3_Intron	NM_000924	NP_000915	Q01064	PDE1B_HUMAN	Homo sapiens phosphodiesterase 1B, calmodulin-dependent (PDE1B), transcript variant 1, mRNA.	96					activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						CGTGCCTTCGGAGGTGCGGGA	0.632000														121			29		0	0	1	0	0
IFT140	9742	broad.mit.edu	37	16	1616260	1616260	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:1616260G>A	uc002cmb.3	-	15	2165	c.1803C>T	c.(1801-1803)ttC>ttT	p.F601F	IFT140_uc002clz.3_Silent_p.F252F	NM_014714	NP_055529	Q96RY7	IF140_HUMAN	Homo sapiens intraflagellar transport 140 homolog (Chlamydomonas) (IFT140), mRNA.	601										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				CAACATCGTAGAAGCAGATTT	0.488000														110			32		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38980751	38980751	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:38980751G>A	uc002oit.3	+	35	5980	c.5850G>A	c.(5848-5850)gaG>gaA	p.E1950E	RYR1_uc002oiu.3_Silent_p.E1950E	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1950	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GTGACCAAGAGCTGCAGCACC	0.572000														85			15		0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6184141	6184141	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:6184141C>T	uc001amb.2	-	30	4677	c.4566G>A	c.(4564-4566)ggG>ggA	p.G1522G	CHD5_uc001alz.2_Silent_p.G379G|CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	1522					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TGCTGTACTTCCCGTTGACAT	0.632000														29			6		0	0	1	0	0
KCNU1	157855	broad.mit.edu	37	8	36675228	36675228	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:36675228C>T	uc010lvw.3	+	9	1143	c.1056C>T	c.(1054-1056)ttC>ttT	p.F352F	KCNU1_uc003xjw.2_Non-coding_Transcript	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA.	352	RCK N-terminal.					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TGAGGAATTTCCTCCGCGACA	0.443000														79			14		0	0	1	0	0
MAOB	4129	broad.mit.edu	37	X	43652797	43652797	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chrX:43652797G>A	uc004dfz.4	-	7	973	c.797C>T	c.(796-798)cCt>cTt	p.P266L	MAOB_uc011mkx.2_Missense_Mutation_p.P250L|MAOB_uc011mky.2_Missense_Mutation_p.P250L	NM_000898	NP_000889	P27338	AOFB_HUMAN	Homo sapiens monoamine oxidase B (MAOB), nuclear gene encoding mitochondrial protein, mRNA.	266					xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity	p.P266L(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)	GCCCAGAGTAGGAGGAATAGC	0.408000														34			29		0	0	1	0	0
OR5AC2	81050	broad.mit.edu	37	3	97806481	97806481	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:97806481C>T	uc011bgs.2	+	0	465	c.465C>T	c.(463-465)ttC>ttT	p.F155F		NM_054106	NP_473447	Q9NZP5	O5AC2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AC, member 2 (OR5AC2), mRNA.	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						TAATTGGTTTCCTGCATCCTC	0.363000														168			36		0	0	1	0	0
GFRA2	2675	broad.mit.edu	37	8	21560352	21560352	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:21560352C>T	uc003wzu.1	-	6	1858	c.1183G>A	c.(1183-1185)Ggg>Agg	p.G395R	GFRA2_uc003wzv.1_Missense_Mutation_p.G290R|GFRA2_uc003wzw.1_Missense_Mutation_p.G262R	NM_001495	NP_001486	O00451	GFRA2_HUMAN	Homo sapiens GDNF family receptor alpha 2 (GFRA2), transcript variant 1, mRNA.	395						anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1)	7				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		ACACTGGTCCCCAAGCTGGTA	0.617000														41			5		0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55107696	55107696	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:55107696C>T	uc002qgh.1	+	6	1183	c.1001C>T	c.(1000-1002)cCc>cTc	p.P334L	LILRA1_uc010yfg.1_Missense_Mutation_p.P332L|LILRA1_uc010yfh.2_Missense_Mutation_p.P334L	NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	334	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CATCCGGGCCCCACGGTGGCC	0.627000														70			16		0	0	1	0	0
OR51F2	119694	broad.mit.edu	37	11	4843021	4843021	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:4843021C>T	uc010qyn.2	+	0	406	c.406C>T	c.(406-408)Cgt>Tgt	p.R136C		NM_001004753	NP_001004753	Q8NH61	O51F2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 2 (OR51F2), mRNA.	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGCCTTTGATCGTTTTGTGGC	0.463000														107			26		0	0	1	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	107360	107360	+	RNA	SNP	A	G	G			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chrGL000211.1:107360A>G	uc003boa.3	+	4		c.900A>G								Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		TGGCAGAAAAACTGCATTTCC	0.408000														170			28		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31322974	31322974	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr18:31322974C>T	uc010dmg.1	+	11	3217	c.3162C>T	c.(3160-3162)ctC>ctT	p.L1054L	ASXL3_uc002kxq.2_Silent_p.L761L	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1054	Ala-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CCAGGACCCTCGCAGATATCA	0.592000														31			4		0	0	1	0	0
FAM55D	54827	broad.mit.edu	37	11	114453639	114453639	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:114453639C>T	uc001ppc.3	-	2	382	c.201G>A	c.(199-201)gaG>gaA	p.E67E	FAM55D_uc001ppd.3_5'UTR	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN	Homo sapiens family with sequence similarity 55, member D (FAM55D), transcript variant 1, mRNA.	67						extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)		TGAGTTCAGTCTCTGTTAGTG	0.448000														158			40		0	0	1	0	0
PCDH20	64881	broad.mit.edu	37	13	61987205	61987205	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr13:61987205G>A	uc001vid.4	-	1	1391	c.1027C>T	c.(1027-1029)Cag>Tag	p.Q343*	PCDH20_uc010thj.2_Nonsense_Mutation_p.Q343*	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	Homo sapiens protocadherin 20 (PCDH20), mRNA.	316	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D342N(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TCCACAGCCTGGACAGCTGCA	0.423000														101			18		0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104955088	104955088	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:104955088C>T	uc003yls.3	+	11	2210	c.1969C>T	c.(1969-1971)Ccc>Tcc	p.P657S	RIMS2_uc003ylp.3_Missense_Mutation_p.P879S|RIMS2_uc003ylw.2_Missense_Mutation_p.P671S|RIMS2_uc003ylq.3_Missense_Mutation_p.P671S|RIMS2_uc003ylr.3_Missense_Mutation_p.P718S|RIMS2_uc003ylt.3_Missense_Mutation_p.P264S	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	941					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding	p.P671S(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ATTGCCACTTCCCCACCCTTC	0.388000										HNSCC(12;0.0054)				37			12		0	0	1	0	0
PTPRU	10076	broad.mit.edu	37	1	29649925	29649926	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:29649925_29649926GG>AA	uc001bru.3	+	27	4030_4031	c.3901_3902GG>AA	c.(3901-3903)ggc>AAc	p.G1301N	PTPRU_uc009vtq.3_Missense_Mutation_p.G1297N|PTPRU_uc009vtr.3_Missense_Mutation_p.G1288N|PTPRU_uc001brw.3_Missense_Mutation_p.G1291N|PTPRU_uc001brx.3_Missense_Mutation_p.G27N	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA.	1301	Tyrosine-protein phosphatase 2.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GCAGCAATATGGCCTCATGGAG	0.614000														16			4		0	0	1	0	0
C1orf85	112770	broad.mit.edu	37	1	156263937	156263937	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:156263937C>T	uc001foh.3	-	3	683	c.670G>A	c.(670-672)Gga>Aga	p.G224R	C1orf85_uc001fof.4_5'Flank	NM_144580	NP_653181	Q8WWB7	NCUG1_HUMAN	Homo sapiens chromosome 1 open reading frame 85 (C1orf85), mRNA.	224					positive regulation of transcription from RNA polymerase II promoter	cytosol|integral to membrane|lysosomal membrane|nucleus	ligand-dependent nuclear receptor activity|protein binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3)	14	Hepatocellular(266;0.158)					GGAGAGGCTCCAATCAGGGCC	0.632000														70			18		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103338393	103338393	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:103338393G>A	uc022ajr.1	-	9	1210	c.1050C>T	c.(1048-1050)atC>atT	p.I350I	RELN_uc022ajq.1_Silent_p.I350I|RELN_uc010liz.3_Silent_p.I350I	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	350					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTGAATTGATGATCAAGATGT	0.463000														105			14		0	0	1	0	0
OR10G4	390264	broad.mit.edu	37	11	123886639	123886639	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:123886639G>A	uc010sac.2	+	0	358	c.358G>A	c.(358-360)Gat>Aat	p.D120N		NM_001004462	NP_001004462	Q8NGN3	O10G4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 4 (OR10G4), mRNA.	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CATGTCCTATGATCGCTACTT	0.567000														160			8		0	0	1	0	0
PRDM11	56981	broad.mit.edu	37	11	45204596	45204596	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:45204596C>T	uc001myo.3	+	4	759	c.510C>T	c.(508-510)atC>atT	p.I170I		NM_020229	NP_064614	Q9NQV5	PRD11_HUMAN	Homo sapiens PR domain containing 11 (PRDM11), mRNA.	170	SET.									endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						ACGAGGTCATCCCCAAGGGCC	0.602000											OREG0020926	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		42			9		0	0	1	0	0
RRH	10692	broad.mit.edu	37	4	110763636	110763636	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:110763636C>T	uc003hzv.3	+	5	766	c.732C>T	c.(730-732)atC>atT	p.I244I		NM_006583	NP_006574	O14718	OPSX_HUMAN	Homo sapiens retinal pigment epithelium-derived rhodopsin homolog (RRH), mRNA.	244					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		TGTCTGTGATCATGATCTGCA	0.388000														115			7		0	0	1	0	0
POSTN	10631	broad.mit.edu	37	13	38153409	38153409	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr13:38153409T>C	uc001uwo.4	-	12	1866	c.1748A>G	c.(1747-1749)aAc>aGc	p.N583S	POSTN_uc010tet.2_Missense_Mutation_p.N111S|POSTN_uc001uwp.4_Missense_Mutation_p.N583S|POSTN_uc001uwr.3_Missense_Mutation_p.N583S|POSTN_uc001uwq.3_Missense_Mutation_p.N583S|POSTN_uc010teu.1_Missense_Mutation_p.N583S|POSTN_uc010tev.1_Missense_Mutation_p.N583S|POSTN_uc010tew.1_Missense_Mutation_p.N583S|POSTN_uc010tex.1_Missense_Mutation_p.N498S	NM_006475	NP_006466	Q15063	POSTN_HUMAN	Homo sapiens periostin, osteoblast specific factor (POSTN), transcript variant 1, mRNA.	583	FAS1 4.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CTTTAAAATGTTAGTAACACC	0.333000														30			13		0	0	1	0	0
SLC13A4	26266	broad.mit.edu	37	7	135378895	135378895	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:135378895C>T	uc003vtb.3	-	9	1800	c.1111G>A	c.(1111-1113)Gga>Aga	p.G371R	SLC13A4_uc003vta.3_Missense_Mutation_p.G370R	NM_012450	NP_036582	Q9UKG4	S13A4_HUMAN	Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 4 (SLC13A4), mRNA.	370						integral to plasma membrane	sodium:sulfate symporter activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						CTAATGTCTCCCAGTTTTTCA	0.458000														88			11		0	0	1	0	0
GRIK4	2900	broad.mit.edu	37	11	120702667	120702667	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:120702667G>A	uc001pxn.2	+	6	905	c.618G>A	c.(616-618)gaG>gaA	p.E206E	GRIK4_uc009zav.1_Silent_p.E206E|GRIK4_uc009zaw.1_Silent_p.E206E|GRIK4_uc009zax.1_Silent_p.E206E	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 4 (GRIK4), mRNA.	206					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)	TCCTCAAGGAGATCCGGGACG	0.617000														156			34		0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113375235	113375235	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:113375235G>A	uc003eam.3	-	6	5705	c.5294C>T	c.(5293-5295)tCa>tTa	p.S1765L	KIAA2018_uc003eal.3_Missense_Mutation_p.S1709L	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	Homo sapiens KIAA2018 (KIAA2018), mRNA.	1765					regulation of transcription, DNA-dependent	membrane|nucleus	DNA binding|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.V1764V(1)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						CCGCAATGATGATACAGGGTT	0.428000														90			37		0	0	1	0	0
PCDH8	5100	broad.mit.edu	37	13	53422092	53422092	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr13:53422092C>T	uc001vhi.3	-	0	684	c.480G>A	c.(478-480)gtG>gtA	p.V160V	PCDH8_uc001vhj.3_Silent_p.V160V	NM_002590	NP_002581	O95206	PCDH8_HUMAN	Homo sapiens protocadherin 8 (PCDH8), transcript variant 1, mRNA.	160	Cadherin 2.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CGTCCTCGTCCACCGGCACCT	0.721000														22			6		0	0	1	0	0
TKTL2	84076	broad.mit.edu	37	4	164393411	164393411	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:164393411C>T	uc003iqp.4	-	0	1637	c.1476G>A	c.(1474-1476)gaG>gaA	p.E492E		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	Homo sapiens transketolase-like 2 (TKTL2), mRNA.	492						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CCTGGCCAATCTCAAAATTTT	0.463000														108			15		0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	97658765	97658765	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:97658765C>T	uc001drv.3	-	19	2619	c.2482G>A	c.(2482-2484)Gaa>Aaa	p.E828K		NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	828					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	CAGTAGTCTTCGATCACAGTG	0.438000														24			5		0	0	1	0	0
SPAM1	6677	broad.mit.edu	37	7	123593980	123593980	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:123593980C>T	uc003vle.3	+	2	795	c.356C>T	c.(355-357)tCc>tTc	p.S119F	SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vld.3_Missense_Mutation_p.S119F|SPAM1_uc022aks.1_Missense_Mutation_p.S119F|SPAM1_uc003vlf.4_Missense_Mutation_p.S119F|SPAM1_uc010lku.3_Missense_Mutation_p.S119F	NM_003117	NP_003108	P38567	HYALP_HUMAN	Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	119					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	CAGAAGATTTCCTTACAAGAC	0.388000														84			14		0	0	1	0	0
SEC1	653677	broad.mit.edu	37	19	49183689	49183689	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:49183689C>T	uc010xzv.2	+	4	836	c.709C>T	c.(709-711)Ccg>Tcg	p.P237S	SEC1_uc002pka.3_Missense_Mutation_p.P197S|SEC1_uc010xzw.2_Missense_Mutation_p.P154S|SEC1_uc010ema.3_Missense_Mutation_p.P143S					Homo sapiens secretory blood group 1 (SEC1), non-coding RNA.																		CCGCCACATCCCGGGGCGCTG	0.652000														67			13		0	0	1	0	0
C6	729	broad.mit.edu	37	5	41143032	41143032	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:41143032C>T	uc003jmk.2	-	17	2910	c.2700G>A	c.(2698-2700)atG>atA	p.M900I	C6_uc003jml.1_Missense_Mutation_p.M900I	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	900	C5b-binding domain.|Complement control factor I module 2.|Kazal-like 2.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TTGATGATCCCATTTTGACAC	0.443000														37			8		0	0	1	0	0
ZNF493	284443	broad.mit.edu	37	19	21605873	21605873	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:21605873G>A	uc002npw.3	+	3	531	c.412G>A	c.(412-414)Ggt>Agt	p.G138S	ZNF493_uc002npx.3_Missense_Mutation_p.G10S|ZNF493_uc002npy.3_Missense_Mutation_p.G10S|ZNF493_uc021urq.1_Missense_Mutation_p.G10S	NM_001076678	NP_787106	Q6ZR52	ZN493_HUMAN	Homo sapiens zinc finger protein 493 (ZNF493), transcript variant 3, mRNA.	10					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						GCACAAAGAAGGTTATAATGA	0.284000														79			16		0	0	1	0	0
LHX8	431707	broad.mit.edu	37	1	75608843	75608843	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:75608843C>T	uc001dgo.3	+	5	1094	c.430C>T	c.(430-432)Cat>Tat	p.H144Y	LHX8_uc021oou.1_Missense_Mutation_p.H144Y|LHX8_uc001dgq.3_Missense_Mutation_p.H83Y	NM_001001933	NP_001001933	Q68G74	LHX8_HUMAN	Homo sapiens LIM homeobox 8 (LHX8), transcript variant 1, mRNA.	144	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						GAGACACATCCATTCTACTGA	0.458000														97			19		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766843	77766843	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:77766843G>A	uc003yau.2	+	9	8073	c.7686G>A	c.(7684-7686)caG>caA	p.Q2562Q	ZFHX4_uc003yaw.1_Silent_p.Q2517Q	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2517						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q2546H(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGCCCCCTCAGGCCAGTTCCT	0.498000										HNSCC(33;0.089)				69			17		0	0	1	0	0
OR9G4	283189	broad.mit.edu	37	11	56510337	56510337	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:56510337C>T	uc010rjo.2	-	0	951	c.951G>A	c.(949-951)agG>agA	p.R317R		NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 4 (OR9G4), mRNA.	317					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GTGTTGCTTTCCTGAAGGCCT	0.393000														71			10		0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167162417	167162417	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:167162417C>T	uc010fpl.3	-	4	822	c.481G>A	c.(481-483)Gga>Aga	p.G161R	SCN9A_uc002udr.1_Missense_Mutation_p.G32R|SCN9A_uc002uds.1_Missense_Mutation_p.G32R|SCN9A_uc002udt.1_Missense_Mutation_p.G32R	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	161						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	GTATATATTCCAGTAAAAGTG	0.348000														26			11		0	0	1	0	0
ZCCHC9	84240	broad.mit.edu	37	5	80604378	80604378	+	Splice_Site	SNP	A	G	G			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:80604378A>G	uc003khk.4	+	3	875	c.385_splice	c.e3-2	p.V129_splice	RNU5E-1_uc011cto.1_Intron|ZCCHC9_uc003khi.3_Splice_Site_p.V129_splice|ZCCHC9_uc003khj.3_Splice_Site_p.V129_splice	NM_032280	NP_115656	Q8N567	ZCHC9_HUMAN	Homo sapiens zinc finger, CCHC domain containing 9 (ZCCHC9), transcript variant 1, mRNA.	129							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)	13		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)		TTGTTTTCCTAGGTGTGTTTC	0.393000														88			20		0	0	1	0	0
SLC22A24	283238	broad.mit.edu	37	11	62911041	62911041	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:62911041C>T	uc021qkp.1	-	0	653	c.211G>A	c.(211-213)Gac>Aac	p.D71N		NM_001136506	NP_001129978			Homo sapiens solute carrier family 22, member 24 (SLC22A24), mRNA.											kidney(1)|stomach(1)	2						CTCAGGAGGTCATCCTTGCTG	0.557000														26			4		0	0	1	0	0
ZIK1	284307	broad.mit.edu	37	19	58102480	58102480	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:58102480C>T	uc002qpg.3	+	3	1398	c.1301C>T	c.(1300-1302)cCt>cTt	p.P434L	ZIK1_uc002qph.3_Missense_Mutation_p.P379L|ZIK1_uc002qpi.3_Missense_Mutation_p.P421L|ZIK1_uc002qpj.3_Missense_Mutation_p.P331L	NM_001010879	NP_001010879	Q3SY52	ZIK1_HUMAN	Homo sapiens zinc finger protein interacting with K protein 1 homolog (mouse) (ZIK1), mRNA.	434					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GGAGCAAGGCCTTATGAGTGT	0.458000														39			11		0	0	1	0	0
AP4S1	11154	broad.mit.edu	37	14	31549843	31549843	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:31549843C>T	uc001wqw.4	+	4	748	c.359C>T	c.(358-360)cCt>cTt	p.P120L	AP4S1_uc021rry.1_Intron|AP4S1_uc001wqx.4_Missense_Mutation_p.P120L|AP4S1_uc010amh.3_Intron|AP4S1_uc001wqy.4_Intron|AP4S1_uc021rrz.1_Intron	NM_007077	NP_009008	Q9Y587	AP4S1_HUMAN	Homo sapiens adaptor-related protein complex 4, sigma 1 subunit (AP4S1), transcript variant 1, mRNA.	18						Golgi apparatus|coated pit	protein transporter activity			lung(1)	1	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.221)	GBM - Glioblastoma multiforme(265;0.00553)		CACTCTGGTCCTTATCAGGTA	0.418000														60			5		0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88963433	88963433	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:88963433G>A	uc011khi.2	+	3	1675	c.1137G>A	c.(1135-1137)agG>agA	p.R379R		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	Homo sapiens zinc finger protein 804B (ZNF804B), mRNA.	379						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GTGATGCCAGGATATCTGAAT	0.388000										HNSCC(36;0.09)				34			5		0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58299045	58299045	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr13:58299045C>T	uc001vhq.1	+	3	3989	c.3097C>T	c.(3097-3099)Ccc>Tcc	p.P1033S	PCDH17_uc010aec.1_Missense_Mutation_p.P1032S|PCDH17_uc001vhr.1_Missense_Mutation_p.P122S	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	1033					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CCAAGAGGTCCCCTCAGCATC	0.517000														68			9		0	0	1	0	0
C14orf105	55195	broad.mit.edu	37	14	57938121	57938121	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:57938121G>A	uc010trl.1	-	6	1106	c.963C>T	c.(961-963)acC>acT	p.T321T	C14orf105_uc001xcy.2_Silent_p.T281T|C14orf105_uc010trm.1_Silent_p.T192T|C14orf105_uc010trn.1_Silent_p.T192T|C14orf105_uc001xcz.2_Silent_p.T280T	NM_018168	NP_060638	Q9NVL8	CN105_HUMAN	Homo sapiens chromosome 14 open reading frame 105 (C14orf105), mRNA.	281										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						TCTCTGTCCTGGTCCTCACCA	0.448000														53			15		0	0	1	0	0
NCR1	9437	broad.mit.edu	37	19	55417910	55417910	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:55417910G>A	uc002qib.2	+	2	138	c.100G>A	c.(100-102)Gag>Aag	p.E34K	NCR1_uc002qic.2_Missense_Mutation_p.E34K|NCR1_uc002qie.2_Missense_Mutation_p.E34K|NCR1_uc002qid.2_Intron|NCR1_uc002qif.2_Intron|NCR1_uc010esj.2_Intron	NM_004829	NP_004820	O76036	NCTR1_HUMAN	Homo sapiens natural cytotoxicity triggering receptor 1 (NCR1), transcript variant 1, mRNA.	34	Ig-like 1.				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	SWI/SNF complex|integral to plasma membrane	receptor activity|receptor signaling protein activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		CATCTGGGCCGAGCCCCATTT	0.542000														96			27		0	0	1	0	0
CSH2	1443	broad.mit.edu	37	17	61949951	61949951	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:61949951G>A	uc002jch.3	-	3	557	c.442C>T	c.(442-444)Caa>Taa	p.Q148*	CSH2_uc002jci.3_Nonsense_Mutation_p.Q148*|CSH2_uc002jcg.3_Intron	NM_020991	NP_066271	P01243	CSH_HUMAN	Homo sapiens chorionic somatomammotropin hormone 2 (CSH2), transcript variant 1, mRNA.	148					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			endometrium(2)|large_intestine(1)|lung(3)	6						ATCAGCGTTTGGATGCCTTCC	0.587000														86			16		0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193040355	193040355	+	Silent	SNP	T	C	C			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:193040355T>C	uc011bsq.2	-	14	1683	c.1683A>G	c.(1681-1683)gaA>gaG	p.E561E		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	561					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CAATGCAATCTTCCATTTTCT	0.294000														60			10		0	0	1	0	0
LRRC18	474354	broad.mit.edu	37	10	50121550	50121550	+	Silent	SNP	G	A	A	rs150055684		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr10:50121550G>A	uc001jhd.3	-	0	731	c.651C>T	c.(649-651)gcC>gcT	p.A217A	WDFY4_uc001jha.4_Intron|LRRC18_uc001jhe.1_Silent_p.A217A	NM_001006939	NP_001006940	Q8N456	LRC18_HUMAN	Homo sapiens leucine rich repeat containing 18 (LRRC18), mRNA.	217						cytoplasm		p.A217T(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						GGTTGTCCCGGGCGTTTTGGC	0.493000														69			25		0	0	1	0	0
PCDHB15	56121	broad.mit.edu	37	5	140627416	140627416	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:140627416G>A	uc003lje.3	+	0	2270	c.2270G>A	c.(2269-2271)gGa>gAa	p.G757E		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	Homo sapiens protocadherin beta 15 (PCDHB15), mRNA.	757					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)			TGTCTGACGGGAGGCTCTGAA	0.517000														199			42		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9077118	9077118	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:9077118G>A	uc002mkp.3	-	2	10532	c.10328C>T	c.(10327-10329)tCt>tTt	p.S3443F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3444	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						GACATCAGGAGATGCACCAAG	0.478000														52			13		0	0	1	0	0
OR1A1	8383	broad.mit.edu	37	17	3119138	3119138	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:3119138C>T	uc010vrc.2	+	0	224	c.224C>T	c.(223-225)tCg>tTg	p.S75L		NM_014565	NP_055380	Q9P1Q5	OR1A1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily A, member 1 (OR1A1), mRNA.	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						TTCTTCTCATCGGTAACCATC	0.483000														162			28		0	0	1	0	0
COL9A3	1299	broad.mit.edu	37	20	61468540	61468540	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr20:61468540C>T	uc002ydm.3	+	29	1712	c.1709C>T	c.(1708-1710)tCc>tTc	p.S570F	COL9A3_uc002ydn.3_Missense_Mutation_p.S64F	NM_001853	NP_001844	Q14050	CO9A3_HUMAN	Homo sapiens collagen, type IX, alpha 3 (COL9A3), mRNA.	570	Triple-helical region 2 (COL2).				axon guidance	collagen type IX				breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					CCCCCAGGCTCCATTGGTCAC	0.682000														96			20		0	0	1	0	0
DRD5	1816	broad.mit.edu	37	4	9784543	9784543	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:9784543C>T	uc003gmb.4	+	0	1286	c.890C>T	c.(889-891)aCc>aTc	p.T297I		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	297			T -> P (in dbSNP:rs2227851).		activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	GTTCTCAAGACCCTGTCGGTG	0.632000														68			9		0	0	1	0	0
PPP1R26	9858	broad.mit.edu	37	9	138377153	138377153	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:138377153C>T	uc022bpi.1	+	0	797	c.797C>T	c.(796-798)tCc>tTc	p.S266F	PPP1R26_uc004cfr.1_Missense_Mutation_p.S266F	NM_014811	NP_055626	Q5T8A7	K0649_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 26 (PPP1R26), mRNA.	266						nucleolus	protein binding										CTCTTGAAATCCCACCAAGAG	0.512000														179			40		0	0	1	0	0
MON2	23041	broad.mit.edu	37	12	62929322	62929322	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:62929322C>T	uc001sre.3	+	13	2124	c.1733C>T	c.(1732-1734)aCt>aTt	p.T578I	MON2_uc010ssn.2_Missense_Mutation_p.T578I|MON2_uc009zqj.3_Missense_Mutation_p.T578I|MON2_uc010ssl.2_Missense_Mutation_p.T506I|MON2_uc010ssm.2_Missense_Mutation_p.T578I|MON2_uc001srf.3_Missense_Mutation_p.T341I	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	Homo sapiens MON2 homolog (S. cerevisiae) (MON2), mRNA.	578					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding	p.T578S(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		GAAGCTGCCACTGAGAATATT	0.338000														60			14		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141660651	141660651	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:141660651C>T	uc002tvj.1	-	22	4576	c.3604G>A	c.(3604-3606)Gga>Aga	p.G1202R	LRP1B_uc010fnl.1_Missense_Mutation_p.G384R	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1202					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGTTGAAGTCCTTCAGGGCAG	0.428000										TSP Lung(27;0.18)				27			22		0	0	1	0	0
RFX6	222546	broad.mit.edu	37	6	117245927	117245927	+	Missense_Mutation	SNP	T	G	G			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:117245927T>G	uc003pxm.3	+	14	1714	c.1651T>G	c.(1651-1653)Tta>Gta	p.L551V		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	551					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						GTTACAGAATTTATTGGACAA	0.313000														39			4		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10363552	10363552	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:10363552C>T	uc002gmn.3	-	12	1345	c.1234G>A	c.(1234-1236)Gag>Aag	p.E412K	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	412	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GTTACGAACTCATTGCCGACC	0.448000														102			23		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41419972	41419972	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr20:41419972G>A	uc002xkg.3	-	2	533	c.349C>T	c.(349-351)Cca>Tca	p.P117S	PTPRT_uc010ggj.3_Missense_Mutation_p.P117S	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	117	MAM.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				AAGGCCCCTGGGCTGGACCTG	0.592000														68			17		0	0	1	0	0
NPY2R	4887	broad.mit.edu	37	4	156136186	156136186	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:156136186C>T	uc003ioq.3	+	1	1584	c.1095C>T	c.(1093-1095)gtC>gtT	p.V365V	NPY2R_uc003ior.3_Silent_p.V365V|NPY2R_uc021xtm.1_Silent_p.V365V	NM_000910	NP_000901	P49146	NPY2R_HUMAN	Homo sapiens neuropeptide Y receptor Y2 (NPY2R), mRNA.	365					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				ACCTGGAGGTCAGAAAGAACA	0.488000														49			7		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103244878	103244878	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:103244878C>T	uc022ajr.1	-	22	3221	c.3061G>A	c.(3061-3063)Gag>Aag	p.E1021K	RELN_uc022ajq.1_Missense_Mutation_p.E1021K|RELN_uc010liz.3_Missense_Mutation_p.E1021K	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	1021					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.D1020D(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AAAGCCCACTCGTCTTGAGCT	0.502000														75			11		0	0	1	0	0
LOC146880	146880	broad.mit.edu	37	17	62750150	62750150	+	RNA	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:62750150G>A	uc010wqc.2	-	9		c.2208C>T								Homo sapiens Rho GTPase activating protein 27 pseudogene (LOC146880), non-coding RNA.																		TGGCATCCAGGATAACCAGAA	0.378000														284			70		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139153542	139153542	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:139153542C>T	uc003yuy.3	-	16	3860	c.3689G>A	c.(3688-3690)cGg>cAg	p.R1230Q	FAM135B_uc003yux.3_Missense_Mutation_p.R1131Q|FAM135B_uc003yuz.3_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	1230								p.R1230Q(3)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GAACCGGGGCCGTGTGAGGAC	0.537000										HNSCC(54;0.14)				103			22		0	0	1	0	0
OR6V1	346517	broad.mit.edu	37	7	142750145	142750145	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:142750145C>T	uc011ksv.2	+	0	708	c.708C>T	c.(706-708)ttC>ttT	p.F236F		NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily V, member 1 (OR6V1), mRNA.	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					AGAAGGCTTTCTCCACTTGCG	0.547000														216			13		0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	77973175	77973175	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:77973175C>T	uc003ugx.3	-	8	1582	c.1328G>A	c.(1327-1329)gGa>gAa	p.G443E	MAGI2_uc003ugy.3_Missense_Mutation_p.G443E|MAGI2_uc010ldx.1_Missense_Mutation_p.G52E|MAGI2_uc010ldy.1_Missense_Mutation_p.G52E|MAGI2_uc011kgr.1_Missense_Mutation_p.G275E|MAGI2_uc011kgs.1_Missense_Mutation_p.G280E	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	443	PDZ 2.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				AGGCTCGTCTCCACCAATGAT	0.483000														48			30		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8130905	8130905	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:8130905C>T	uc002mjf.3	-	62	8345	c.8328G>A	c.(8326-8328)gaG>gaA	p.E2776E	FBN3_uc002mje.3_Silent_p.E572E	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	2776						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGCTCACCACCTCCAGCCGGT	0.667000														62			15		0	0	1	0	0
OR5W2	390148	broad.mit.edu	37	11	55681515	55681515	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:55681515G>A	uc010rir.2	-	0	544	c.544C>T	c.(544-546)Cct>Tct	p.P182S		NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily W, member 2 (OR5W2), mRNA.	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P182T(2)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AAGAGAGGAGGGATATCACAG	0.403000														99			18		0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101829329	101829329	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:101829329C>T	uc004azb.1	+	39	4023	c.3817C>T	c.(3817-3819)Ctt>Ttt	p.L1273F		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	1273	Nonhelical region 10 (NC10).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GAGATACAGCCTTCCCATAGT	0.483000														83			12		0	0	1	0	0
FCAMR	83953	broad.mit.edu	37	1	207131962	207131962	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:207131962G>A	uc001hfa.4	-	7	2133	c.1633C>T	c.(1633-1635)Caa>Taa	p.Q545*	FCAMR_uc001hfb.3_3'UTR|FCAMR_uc009xca.2_3'UTR	NM_001170631	NP_001164102	Q8WWV6	FCAMR_HUMAN	Homo sapiens Fc receptor, IgA, IgM, high affinity (FCAMR), transcript variant 3, mRNA.	500						integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						TGGTCTGCTTGGGGGTTCACT	0.547000														112			24		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7722319	7722319	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:7722319G>A	uc002giu.1	+	69	10767	c.10753G>A	c.(10753-10755)Gag>Aag	p.E3585K	DNAH2_uc010cnm.1_Missense_Mutation_p.E523K	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	3585	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CACAGCCACAGAGGTGACTGA	0.622000														25			12		0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52406983	52406983	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:52406983C>T	uc011bef.2	+	43	7160	c.6899C>T	c.(6898-6900)gCc>gTc	p.A2300V		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	2300	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AACATGCCGGCCCTGGAGACC	0.617000														131			13		0	0	1	0	0
AKR1B1	231	broad.mit.edu	37	7	134134532	134134532	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:134134532G>A	uc003vrp.1	-	3	443	c.369C>T	c.(367-369)ttC>ttT	p.F123F		NM_001628	NP_001619	P15121	ALDR_HUMAN	Homo sapiens aldo-keto reductase family 1, member B1 (aldose reductase) (AKR1B1), mRNA.	123					C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress	cytosol|extracellular space|nucleus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14					NADH(DB00157)|Sulindac(DB00605)	CATCCAATGGGAAAAATTCCT	0.468000														262			23		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106573536	106573536	+	RNA	SNP	A	C	C			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:106573536A>C	uc021ser.1	-	1890		c.35159T>G								Parts of antibodies, mostly variable regions.																		GACACTGGACACCTGCAAACA	0.517000														156			34		0	0	1	0	0
FRMD1	79981	broad.mit.edu	37	6	168467485	168467485	+	Silent	SNP	G	A	A	rs140475200	by1000genomes	TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:168467485G>A	uc003qwo.4	-	3	476	c.411C>T	c.(409-411)ttC>ttT	p.F137F	FRMD1_uc003qwm.4_5'Flank|FRMD1_uc011egs.2_5'UTR|FRMD1_uc011egt.2_Silent_p.F49F|FRMD1_uc003qwn.4_Silent_p.F69F	NM_024919	NP_079195	Q8N878	FRMD1_HUMAN	Homo sapiens FERM domain containing 1 (FRMD1), transcript variant 1, mRNA.	137	FERM.					cytoskeleton	binding	p.F137F(2)		endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GGAAGGCCACGAAGGGGGCTC	0.547000														65			10		0	0	1	0	0
APCS	325	broad.mit.edu	37	1	159558188	159558188	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:159558188C>T	uc001ftv.3	+	1	458	c.362C>T	c.(361-363)tCa>tTa	p.S121L		NM_001639	NP_001630	P02743	SAMP_HUMAN	Homo sapiens amyloid P component, serum (APCS), mRNA.	121	Pentaxin.				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding	p.S121L(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					GAGTCCTCATCAGGTATTGCT	0.468000														40			4		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24923805	24923805	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:24923805C>T	uc001ywo.3	+	0	3265	c.2791C>T	c.(2791-2793)Cct>Tct	p.P931S		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	931					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CTTAACATCTCCTTCAGTCCA	0.488000														97			14		0	0	1	0	0
KCNT1	57582	broad.mit.edu	37	9	138657527	138657527	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:138657527C>T	uc011mdq.2	+	12	1332	c.1258C>T	c.(1258-1260)Ctg>Ttg	p.L420L	KCNT1_uc011mdr.2_Silent_p.L247L|KCNT1_uc010nbf.3_Silent_p.L375L|KCNT1_uc004cgo.1_Silent_p.L169L	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN	Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.	420						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GCGCAGAGTCCTGCAGATCCC	0.637000														38			10		0	0	1	0	0
DIRAS1	148252	broad.mit.edu	37	19	2717260	2717260	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:2717260G>A	uc002lwf.3	-	1	703	c.545C>T	c.(544-546)tCc>tTc	p.S182F	DIRAS1_uc021umt.1_Missense_Mutation_p.S182F	NM_145173	NP_660156	O95057	DIRA1_HUMAN	Homo sapiens DIRAS family, GTP-binding RAS-like 1 (DIRAS1), mRNA.	182					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|lung(2)|ovary(2)|prostate(1)	6				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCTTCCCGGAGCGCTTGCC	0.647000														184			33		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185798364	185798364	+	Missense_Mutation	SNP	G	A	A	rs145158210		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:185798364G>A	uc002uph.3	+	2	884	c.290G>A	c.(289-291)cGa>cAa	p.R97Q		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	97						intracellular	zinc ion binding	p.R97Q(2)|p.R97*(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GAATTTGCTCGAAATGTAGCA	0.368000														34			8		0	0	1	0	0
CASP5	838	broad.mit.edu	37	11	104877954	104877954	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:104877954C>T	uc010ruz.1	-	2	360	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	CASP5_uc010rva.1_Missense_Mutation_p.E97K|CASP5_uc010rvb.1_Missense_Mutation_p.E39K|CASP5_uc010rvc.1_Intron|CASP5_uc009yxh.2_5'UTR|CASP5_uc010rvd.1_Intron	NM_001136112	NP_001129584	P51878	CASP5_HUMAN	Homo sapiens caspase 5, apoptosis-related cysteine peptidase (CASP5), transcript variant f, mRNA.	97	CARD.				apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		TTTTCCTCTTCCTTCAATGTC	0.358000														36			15		0	0	1	0	0
SPATA18	132671	broad.mit.edu	37	4	52942971	52942971	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:52942971C>T	uc003gzl.3	+	6	1063	c.785C>T	c.(784-786)cCt>cTt	p.P262L	SPATA18_uc010igl.1_Non-coding_Transcript|SPATA18_uc011bzq.2_Missense_Mutation_p.P230L|SPATA18_uc003gzk.1_Missense_Mutation_p.P262L	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	Homo sapiens spermatogenesis associated 18 (SPATA18), mRNA.	262	Ser-rich.				mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TCTCCCAGCCCTGCCCCTCGC	0.587000														65			6		0	0	1	0	0
HDC	3067	broad.mit.edu	37	15	50534519	50534519	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:50534519G>A	uc001zxz.3	-	11	2269	c.1927C>T	c.(1927-1929)Cct>Tct	p.P643S	HDC_uc001zxy.3_Missense_Mutation_p.P386S|HDC_uc010uff.2_Missense_Mutation_p.P610S	NM_002112	NP_002103	P19113	DCHS_HUMAN	Homo sapiens histidine decarboxylase (HDC), mRNA.	643					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	CTGCATTCAGGAAAGCTGGGG	0.488000														79			16		0	0	1	0	0
ARHGEF15	22899	broad.mit.edu	37	17	8215940	8215940	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:8215940C>T	uc002glc.3	+	1	738	c.583C>T	c.(583-585)Cag>Tag	p.Q195*	ARHGEF15_uc002glb.2_Nonsense_Mutation_p.Q195*|ARHGEF15_uc002gld.3_Nonsense_Mutation_p.Q195*|ARHGEF15_uc010vuw.2_Nonsense_Mutation_p.Q195*	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 15 (ARHGEF15), transcript variant 1, mRNA.	195					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						GAGTGGGTCCCAGGAGAACGG	0.617000														44			7		0	0	1	0	0
ZC3HAV1L	92092	broad.mit.edu	37	7	138713577	138713577	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:138713577G>A	uc003vum.1	-	2	643	c.631C>T	c.(631-633)Cat>Tat	p.H211Y		NM_080660	NP_542391	Q96H79	ZCCHL_HUMAN	Homo sapiens zinc finger CCCH-type, antiviral 1-like (ZC3HAV1L), mRNA.	211										NS(2)|endometrium(2)|large_intestine(1)|lung(4)|skin(1)	10						ATAAGCTGATGGGACCGTTTG	0.418000														40			6		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71762423	71762423	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:71762423G>A	uc010fen.3	+	15	1616	c.1475G>A	c.(1474-1476)aGg>aAg	p.R492K	DYSF_uc010fei.3_Missense_Mutation_p.R491K|DYSF_uc010feh.3_Missense_Mutation_p.R460K|DYSF_uc002sig.4_Missense_Mutation_p.R460K|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.R491K|DYSF_uc010fee.3_Missense_Mutation_p.R460K|DYSF_uc010fef.3_Missense_Mutation_p.R491K|DYSF_uc002sie.3_Missense_Mutation_p.R460K|DYSF_uc010feo.3_Missense_Mutation_p.R492K|DYSF_uc010fej.3_Missense_Mutation_p.R461K|DYSF_uc010fel.3_Missense_Mutation_p.R461K|DYSF_uc010fem.3_Missense_Mutation_p.R461K|DYSF_uc002sif.3_Missense_Mutation_p.R461K|DYSF_uc010fek.3_Missense_Mutation_p.R492K	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	460						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GAAAAAATGAGGATTCGTATC	0.527000														103			44		0	0	1	0	0
TRBV7-3	28595	broad.mit.edu	37	7	142247180	142247180	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:142247180G>A	uc003vyd.4	-	1	301	c.276C>T	c.(274-276)tcC>tcT	p.S92S	TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		GAGTAGAGACGGATCCCTCAG	0.572000														142			20		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181702859	181702859	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:181702859C>T	uc009wxt.3	+	20	3430	c.3235C>T	c.(3235-3237)Ccc>Tcc	p.P1079S	CACNA1E_uc001gow.3_Missense_Mutation_p.P1079S|CACNA1E_uc009wxs.3_Missense_Mutation_p.P1060S|CACNA1E_uc001gox.1_Missense_Mutation_p.P305S	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1079					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.D1078D(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CGACGTGGACCCCTTGGTGGA	0.627000														27			7		0	0	1	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142478857	142478857	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:142478857C>T	uc011ksq.2	+	0	101	c.18C>T	c.(16-18)atC>atT	p.I6I	TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron|PRSS3P2_uc011ksr.1_5'Flank					Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA.																		CACTCCTGATCCTTGCCTTTG	0.577000														73			16		0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33579405	33579405	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:33579405G>A	uc001rll.1	-	1	474	c.177C>T	c.(175-177)gtC>gtT	p.V59V	SYT10_uc009zju.1_5'UTR	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	Homo sapiens synaptotagmin X (SYT10), mRNA.	59						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					AGCTGACAACGACAGCTAACA	0.363000														24			5		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882663	228882663	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:228882663C>T	uc002vpq.2	-	6	2954	c.2907G>A	c.(2905-2907)ctG>ctA	p.L969L	SPHKAP_uc002vpp.2_Silent_p.L969L|SPHKAP_uc010zlx.1_Silent_p.L969L	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	969						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TGGGTGTCATCAGAAACTCAC	0.537000														66			36		0	0	1	0	0
OR9A2	135924	broad.mit.edu	37	7	142724186	142724186	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:142724186G>A	uc003wcc.1	-	0	34	c.34C>T	c.(34-36)Cac>Tac	p.H12Y		NM_001001658	NP_001001658	Q8NGT5	OR9A2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 2 (OR9A2), mRNA.	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					CCTAGAAGGTGGAATTCAGTG	0.423000														63			14		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168244354	168244354	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:168244354C>T	uc010jjg.3	-	7	1164	c.744G>A	c.(742-744)ttG>ttA	p.L248L	SLIT3_uc003mab.3_Silent_p.L248L|SLIT3_uc010jji.2_Silent_p.L248L|SLIT3_uc003mac.1_Silent_p.L45L	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	248	LRRCT 1.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGAAGCCCCTCAAATGCACAG	0.597000														78			24		0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453137	+	Missense_Mutation	DNP	AC	TT	TT	rs121913377		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:140453136_140453137AC>TT	uc003vwc.4	-	14	1859_1860	c.1798_1799GT>AA	c.(1798-1800)gtg>AAg	p.V600K		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600M(43)|p.V600D(40)|p.V600L(37)|p.V600_K601>E(30)|p.V600A(24)|p.V600G(22)|p.T599_V600insT(9)|p.A598_T599insV(7)|p.T599I(5)|p.V600Q(4)|p.T599_V600>IAL(4)|p.T599_R603>I(4)|p.T599_V600insTT(4)|p.T599_V600insDFGLAT(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAGA	0.366000	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)|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					46			23		0	0	1	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130791677	130791677	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:130791677G>A	uc003kvn.2	-	19	3099	c.2893C>T	c.(2893-2895)Ctc>Ttc	p.L965F	RAPGEF6_uc003kvp.2_Missense_Mutation_p.L1015F|RAPGEF6_uc003kvo.2_Missense_Mutation_p.L970F|RAPGEF6_uc010jdi.2_Missense_Mutation_p.L965F|RAPGEF6_uc010jdj.2_Missense_Mutation_p.L965F|RAPGEF6_uc003kvq.3_Missense_Mutation_p.L682F|RAPGEF6_uc011cxe.2_Non-coding_Transcript|RAPGEF6_uc003kvr.3_Missense_Mutation_p.L965F	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 6 (RAPGEF6), transcript variant 2, mRNA.	965	Ras-GEF.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|Ras GTPase binding|guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		GTTCCTCTGAGTCTTGCTACA	0.398000														50			7		0	0	1	0	0
DHRS2	10202	broad.mit.edu	37	14	24109021	24109021	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:24109021G>A	uc001wkt.4	+	3	784	c.337G>A	c.(337-339)Ggc>Agc	p.G113S	DHRS2_uc010aku.1_Missense_Mutation_p.G113S|DHRS2_uc001wku.4_Missense_Mutation_p.G113S|DHRS2_uc010akv.3_Non-coding_Transcript	NM_182908	NP_878912	Q13268	DHRS2_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 2 (DHRS2), transcript variant 1, mRNA.	91					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)		GCACTGTGGGGGCGTCGACTT	0.632000														61			10		0	0	1	0	0
DDX60L	91351	broad.mit.edu	37	4	169374318	169374318	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:169374318A>T	uc021xuh.1	-	6	1063	c.953T>A	c.(952-954)aTc>aAc	p.I318N	DDX60L_uc003irq.4_Missense_Mutation_p.I318N|DDX60L_uc003irr.1_Missense_Mutation_p.I318N|DDX60L_uc003irs.1_Missense_Mutation_p.I45N	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA.	318							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		AGAGCATGTGATGACTCGAGA	0.413000														54			4		0	0	1	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52004611	52004611	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:52004611C>T	uc002pwx.1	-	0	433	c.377G>A	c.(376-378)gGa>gAa	p.G126E	SIGLEC12_uc002pww.1_5'Flank|SIGLEC12_uc010eoy.1_5'UTR	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 12 (gene/pseudogene) (SIGLEC12), transcript variant 1, mRNA.	126	Ig-like V-type 1.				cell adhesion	integral to membrane	sugar binding	p.G126R(1)		NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TTTCATATTTCCTCTCTCTAC	0.473000														96			13		0	0	1	0	0
CCR2	729230	broad.mit.edu	37	3	46399786	46399786	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:46399786G>A	uc003cpn.4	+	1	1253	c.768G>A	c.(766-768)tgG>tgA	p.W256*	CCR2_uc003cpm.4_Nonsense_Mutation_p.W256*|CCR2_uc021wxa.1_Nonsense_Mutation_p.W256*	NM_001123041	NP_001116513	P41597	CCR2_HUMAN	Homo sapiens chemokine (C-C motif) receptor 2 (CCR2), transcript variant A, mRNA.	256					JAK-STAT cascade|T-helper 17 cell chemotaxis|astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		TTCTCTTCTGGACTCCCTATA	0.478000														118			43		0	0	1	0	0
PGBD1	84547	broad.mit.edu	37	6	28269969	28269969	+	Missense_Mutation	SNP	G	A	A	rs139051198		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:28269969G>A	uc003nky.3	+	6	2758	c.2338G>A	c.(2338-2340)Gcc>Acc	p.A780T	PGBD1_uc003nkz.3_Missense_Mutation_p.A780T	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	Homo sapiens piggyBac transposable element derived 1 (PGBD1), transcript variant 2, mRNA.	780					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						ACTACACAGAGCCTGTAACCC	0.423000														37			8		0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128984583	128984583	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:128984583G>A	uc003kvb.1	+	12	2078	c.2078G>A	c.(2077-2079)aGa>aAa	p.R693K	ADAMTS19_uc010jdh.1_Non-coding_Transcript	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.	693	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CCTGGATTCAGAGACTGGCAA	0.448000														130			27		0	0	1	0	0
CASP14	23581	broad.mit.edu	37	19	15166261	15166261	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:15166261G>A	uc010dzv.2	+	5	753	c.541G>A	c.(541-543)Gat>Aat	p.D181N		NM_012114	NP_036246	P31944	CASPE_HUMAN	Homo sapiens caspase 14, apoptosis-related cysteine peptidase (CASP14), mRNA.	181					apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						CTACCGACATGATCAGAAAGG	0.527000														88			14		0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139908410	139908410	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:139908410G>A	uc004ckm.1	-	27	4458	c.4408C>T	c.(4408-4410)Cac>Tac	p.H1470Y	ABCA2_uc022bpy.1_Missense_Mutation_p.H1371Y|ABCA2_uc022bpz.1_Missense_Mutation_p.H1441Y|ABCA2_uc011mem.1_Missense_Mutation_p.H1440Y|ABCA2_uc004ckl.1_Missense_Mutation_p.H1371Y|ABCA2_uc004ckn.1_Non-coding_Transcript	NM_212533	NP_997698	Q9BZC7	ABCA2_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 2 (ABCA2), transcript variant 2, mRNA.	1440					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		AGCAGCCCGTGGAACTGGCGC	0.657000														41			11		0	0	1	0	0
TANC1	85461	broad.mit.edu	37	2	160027078	160027078	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:160027078C>T	uc002uag.3	+	9	1387	c.1113C>T	c.(1111-1113)ccC>ccT	p.P371P	TANC1_uc010fol.1_Silent_p.P265P|TANC1_uc010zcm.2_Silent_p.P363P|TANC1_uc010fom.1_Silent_p.P177P	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 (TANC1), transcript variant 1, mRNA.	371						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TGTTGAAACCCTTGTTGTTTG	0.353000														108			10		0	0	1	0	0
ZNF726	730087	broad.mit.edu	37	19	24102881	24102881	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:24102881C>T	uc021urw.1	+	2	336	c.223C>T	c.(223-225)Cca>Tca	p.P75S	AK125686_uc002nrp.1_Non-coding_Transcript|ZNF726_uc021urv.1_Missense_Mutation_p.P75S	NM_001244038	NP_001230967	E9PLI7	E9PLI7_HUMAN	Homo sapiens zinc finger protein 726 (ZNF726), mRNA.	75					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding										GGATGAACCCCCAGGTAGGTG	0.448000														47			11		0	0	1	0	0
HEATR4	399671	broad.mit.edu	37	14	73989833	73989833	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:73989833C>T	uc021rwe.1	-	2	372	c.24G>A	c.(22-24)aaG>aaA	p.K8K	HEATR4_uc021rwf.1_5'UTR|HEATR4_uc010tub.1_Silent_p.K8K	NM_001220484	NP_001207413			Homo sapiens HEAT repeat containing 4 (HEATR4), transcript variant 1, mRNA.											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		GGAGAAAGGTCTTTCCCTTCT	0.532000														9			3		0	0	1	0	0
PSEN2	5664	broad.mit.edu	37	1	227076736	227076736	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:227076736C>T	uc009xeo.1	+	7	1200	c.773C>T	c.(772-774)gCc>gTc	p.A258V	PSEN2_uc009xep.1_Missense_Mutation_p.A258V|PSEN2_uc001hqk.2_Non-coding_Transcript	NM_000447	NP_000438	P49810	PSN2_HUMAN	Homo sapiens presenilin 2 (Alzheimer disease 4) (PSEN2), transcript variant 1, mRNA.	258					Notch receptor processing|Notch signaling pathway|amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|positive regulation of catalytic activity	Golgi membrane|Z disc|apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm	aspartic-type endopeptidase activity|protein binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20		Prostate(94;0.0771)				ATCCTGGGCGCCATCTCTGTG	0.622000														28			7		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33858887	33858887	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:33858887C>T	uc001zhi.3	+	11	1225	c.1155C>T	c.(1153-1155)ctC>ctT	p.L385L	RYR3_uc010bar.3_Silent_p.L385L	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	385	MIR 5.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGGTCATACTCCATCAGGAAG	0.517000														92			33		0	0	1	0	0
BRCA1	672	broad.mit.edu	37	17	41246734	41246734	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:41246734C>T	uc002icq.3	-	9	1046	c.814G>A	c.(814-816)Gag>Aag	p.E272K	BRCA1_uc010whp.2_Intron|BRCA1_uc010whl.2_Intron|BRCA1_uc010whm.2_Intron|BRCA1_uc002icp.4_Missense_Mutation_p.E201K|BRCA1_uc002icu.3_Intron|BRCA1_uc010cyx.3_Missense_Mutation_p.E225K|BRCA1_uc002ict.3_Missense_Mutation_p.E272K|BRCA1_uc010whn.2_Intron|BRCA1_uc010who.2_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.3_Missense_Mutation_p.E272K|BRCA1_uc002ide.1_Missense_Mutation_p.E103K|BRCA1_uc010cyy.1_Missense_Mutation_p.E272K|BRCA1_uc010whs.1_Missense_Mutation_p.E272K|BRCA1_uc010cyz.2_Missense_Mutation_p.E225K|BRCA1_uc010cza.2_Missense_Mutation_p.E246K|BRCA1_uc010wht.1_5'UTR	NM_007294	NP_009228	P38398	BRCA1_HUMAN	Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 1, mRNA.	272					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|G2/M transition DNA damage checkpoint|androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|double-strand break repair via homologous recombination|fatty acid biosynthetic process|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|positive regulation of cell cycle arrest|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of histone acetylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein K6-linked ubiquitination|protein autoubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	RNA binding|androgen receptor binding|identical protein binding|protein binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CCACATGGCTCCACATGCAAG	0.418000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)				62			12		0	0	1	0	0
MIA2	117153	broad.mit.edu	37	14	39716206	39716206	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:39716206C>T	uc001wux.3	+	3	622	c.428C>T	c.(427-429)cCt>cTt	p.P143L	MIA2_uc010amy.2_Missense_Mutation_p.P74L	NM_054024	NP_473365	Q96PC5	MIA2_HUMAN	Homo sapiens melanoma inhibitory activity 2 (MIA2), mRNA.	143						extracellular region				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		AATATATATCCTTATGAAGAA	0.294000														29			4		0	0	1	0	0
PLXDC2	84898	broad.mit.edu	37	10	20432305	20432305	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr10:20432305C>T	uc001iqg.1	+	4	1260	c.623C>T	c.(622-624)cCc>cTc	p.P208L	PLXDC2_uc001iqh.1_Missense_Mutation_p.P159L|PLXDC2_uc009xkc.1_Non-coding_Transcript	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	Homo sapiens plexin domain containing 2 (PLXDC2), mRNA.	208						integral to membrane		p.P208L(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						AATTTCGATCCCAGTGTATCC	0.358000														86			12		0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78321567	78321567	+	Silent	SNP	C	T	T	rs150377982		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:78321567C>T	uc002jyh.2	+	29	9722	c.9579C>T	c.(9577-9579)ccC>ccT	p.P3193P	RNF213_uc021uen.1_Silent_p.P3144P	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GGGTTCACCCCAACTTCCGCC	0.547000														58			14		0	0	1	0	0
KIAA0586	9786	broad.mit.edu	37	14	58937421	58937421	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:58937421C>T	uc010trr.2	+	18	2936	c.2692C>T	c.(2692-2694)Cct>Tct	p.P898S	KIAA0586_uc001xdu.4_Missense_Mutation_p.P830S|KIAA0586_uc010trs.2_Missense_Mutation_p.P760S|KIAA0586_uc001xdt.4_Missense_Mutation_p.P801S|KIAA0586_uc001xdv.4_Missense_Mutation_p.P769S|KIAA0586_uc010trt.2_Missense_Mutation_p.P705S|KIAA0586_uc010tru.1_Missense_Mutation_p.P705S	NM_001244189	NP_001231118	E9PGW8	E9PGW8_HUMAN	Homo sapiens KIAA0586 (KIAA0586), transcript variant 1, mRNA.	769										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ATCTCTTCCTCCTGTGCAAAC	0.343000														22			6		0	0	1	0	0
ACHE	43	broad.mit.edu	37	7	100490864	100490864	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:100490864G>A	uc003uxd.3	-	0	1146	c.990C>T	c.(988-990)ttC>ttT	p.F330F	ACHE_uc003uxe.3_Silent_p.F330F|ACHE_uc003uxf.3_Silent_p.F330F|ACHE_uc003uxg.3_Silent_p.F330F|ACHE_uc003uxh.3_Silent_p.F330F|ACHE_uc003uxi.3_Silent_p.F330F|ACHE_uc003uxj.1_Silent_p.F449F	NM_000665	NP_000656	P22303	ACES_HUMAN	Homo sapiens acetylcholinesterase (ACHE), transcript variant E4-E6, mRNA.	330					DNA replication|acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	Golgi apparatus|anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	CCACAGGCACGAAGGAGAACC	0.597000														56			11		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179585804	179585804	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:179585804C>T	uc021vsy.1	-	75	19435	c.19210G>A	c.(19210-19212)Gaa>Aaa	p.E6404K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E3065K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7331	Ig-like 45.						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)			TCATGAAGTTCGCTGTCATTT	0.403000														56			13		0	0	1	0	0
TBX15	6913	broad.mit.edu	37	1	119427525	119427525	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:119427525G>A	uc001ehl.1	-	7	1636	c.1321C>T	c.(1321-1323)Cct>Tct	p.P441S	TBX15_uc009whj.1_Missense_Mutation_p.P265S	NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	Homo sapiens T-box 15 (TBX15), mRNA.	547						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		CCGTTGGAAGGAGAAGAACAG	0.522000														32			13		0	0	1	0	0
GLT6D1	360203	broad.mit.edu	37	9	138517989	138517989	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:138517989G>A	uc010nbd.1	-	3	437	c.183C>T	c.(181-183)ttC>ttT	p.F61F		NM_182974	NP_892019	Q7Z4J2	GL6D1_HUMAN	Homo sapiens glycosyltransferase 6 domain containing 1 (GLT6D1), mRNA.	61					carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups	p.F61F(2)		endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		CCCGCCTGTCGAAAGTCCCTT	0.507000														75			12		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40363221	40363221	+	Missense_Mutation	SNP	C	T	T	rs140298192		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:40363221C>T	uc002omp.4	-	31	14857	c.14849G>A	c.(14848-14850)cGa>cAa	p.R4950Q		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	4950	VWFD 12.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			AACCATGTTTCGGCCCTCGGC	0.667000														21			5		0	0	1	0	0
FMO1	2326	broad.mit.edu	37	1	171244519	171244519	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:171244519C>T	uc009wvz.3	+	3	492	c.356C>T	c.(355-357)tCt>tTt	p.S119F	FMO1_uc010pme.2_Missense_Mutation_p.S56F|FMO1_uc001ghl.3_Missense_Mutation_p.S119F|FMO1_uc001ghm.3_Missense_Mutation_p.S119F	NM_002021	NP_002012	Q01740	FMO1_HUMAN	Homo sapiens flavin containing monooxygenase 1 (FMO1), mRNA.	119					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGCTCAGATTCTGCTGTCTCT	0.428000														60			12		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140711728	140711728	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:140711728G>A	uc003lji.2	+	0	1477	c.1477G>A	c.(1477-1479)Gag>Aag	p.E493K	PCDHGC5_uc011dan.2_Missense_Mutation_p.E493K	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	495	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCCTAATAGAGGACACTAT	0.537000														139			27		0	0	1	0	0
ADH1A	124	broad.mit.edu	37	4	100208142	100208142	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:100208142C>T	uc003hur.2	-	2	238	c.124G>A	c.(124-126)Gtg>Atg	p.V42M	LOC100507053_uc003hum.2_Non-coding_Transcript|ADH1A_uc010ilf.1_5'Flank|ADH1A_uc010ilg.2_Missense_Mutation_p.V42M	NM_000667	NP_000658	P07327	ADH1A_HUMAN	Homo sapiens alcohol dehydrogenase 1A (class I), alpha polypeptide (ADH1A), mRNA.	42					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	CCTACAGCCACCATCTACAGA	0.453000														91			13		0	0	1	0	0
HTR5A	3361	broad.mit.edu	37	7	154876077	154876077	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:154876077C>T	uc003wlu.1	+	1	1018	c.954C>T	c.(952-954)atC>atT	p.I318I		NM_024012	NP_076917	P47898	5HT5A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 5A (HTR5A), mRNA.	318						integral to plasma membrane	serotonin receptor activity	p.A317T(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		TCCCCGCCATCTGGAAAAGCA	0.522000														162			30		0	0	1	0	0
MED16	10025	broad.mit.edu	37	19	875447	875447	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:875447G>A	uc002lqd.1	-	9	1719	c.1568C>T	c.(1567-1569)tCc>tTc	p.S523F	MED16_uc010drw.2_Missense_Mutation_p.S348F|MED16_uc002lqe.3_Missense_Mutation_p.S512F|MED16_uc002lqf.3_Missense_Mutation_p.S512F|MED16_uc010xfz.2_5'Flank|MED16_uc010xfv.1_Intron|MED16_uc010xfw.1_Missense_Mutation_p.S443F|MED16_uc010xfx.1_Missense_Mutation_p.S368F|MED16_uc010xfy.1_Intron	NM_005481	NP_005472	Q9Y2X0	MED16_HUMAN	Homo sapiens mediator complex subunit 16 (MED16), mRNA.	523					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GATCCGGGTGGAGAGGACCTG	0.652000														14			3		0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159692398	159692398	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:159692398G>A	uc010kjv.3	+	22	5809	c.5609G>A	c.(5608-5610)gGg>gAg	p.G1870E		NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	1870						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GTCAGGTTTGGGAACATCGGC	0.562000														19			8		0	0	1	0	0
ISX	91464	broad.mit.edu	37	22	35478514	35478514	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr22:35478514G>A	uc003anj.3	+	1	1184	c.233G>A	c.(232-234)gGa>gAa	p.G78E		NM_001008494	NP_001008494	Q2M1V0	ISX_HUMAN	Homo sapiens intestine-specific homeobox (ISX), mRNA.	78						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G78E(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						CATGCAGAAGGAAGGAAGAGC	0.547000														91			22		0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193052888	193052888	+	Splice_Site	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:193052888C>T	uc011bsq.2	-	10	944	c.944_splice	c.e10-1	p.G315_splice		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	315					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TATACTTTCTCCTAAAGAGGA	0.398000														70			8		0	0	1	0	0
RASAL1	8437	broad.mit.edu	37	12	113553474	113553474	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:113553474C>T	uc001tun.2	-	10	1270	c.969G>A	c.(967-969)ctG>ctA	p.L323L	RASAL1_uc010syp.2_Silent_p.L323L|RASAL1_uc001tul.3_Silent_p.L323L|RASAL1_uc001tum.2_Silent_p.L323L|RASAL1_uc010syq.2_Silent_p.L323L|RASAL1_uc001tuo.4_Silent_p.L323L|RASAL1_uc010syr.2_Silent_p.L323L	NM_001193520	NP_001180449	O95294	RASL1_HUMAN	Homo sapiens RAS protein activator like 1 (GAP1 like) (RASAL1), transcript variant 1, mRNA.	323	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|metal ion binding|phospholipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						TGAGATAGTCCAGAAAGCGCC	0.637000														27			9		0	0	1	0	0
ACIN1	22985	broad.mit.edu	37	14	23531415	23531415	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:23531415G>A	uc001wit.4	-	15	3563	c.3235C>T	c.(3235-3237)Ccc>Tcc	p.P1079S	ACIN1_uc001wio.4_Non-coding_Transcript|ACIN1_uc001wip.4_Missense_Mutation_p.P321S|ACIN1_uc001wiq.4_Missense_Mutation_p.P321S|ACIN1_uc001wir.4_Missense_Mutation_p.P352S|ACIN1_uc001wis.4_Missense_Mutation_p.P760S|ACIN1_uc010akg.3_Missense_Mutation_p.P1066S|ACIN1_uc010tnj.2_Missense_Mutation_p.P1039S	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	Homo sapiens apoptotic chromatin condensation inducer 1 (ACIN1), transcript variant 1, mRNA.	1079					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		AGGAATTTGGGATTGGACTGG	0.532000														163			35		0	0	1	0	0
BTBD16	118663	broad.mit.edu	37	10	124097543	124097543	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr10:124097543C>T	uc001lgc.1	+	15	1715	c.1464C>T	c.(1462-1464)atC>atT	p.I488I	BTBD16_uc001lgd.1_Silent_p.I487I	NM_144587	NP_653188	Q32M84	BTBDG_HUMAN	Homo sapiens BTB (POZ) domain containing 16 (BTBD16), mRNA.	488										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				CCTTGAAAATCCAAACTGTGG	0.418000														18			10		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7583323	7583323	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:7583323G>A	uc003mxp.1	+	23	6107	c.5828G>A	c.(5827-5829)aGa>aAa	p.R1943K	DSP_uc003mxq.1_Missense_Mutation_p.R1344K|DSP_uc021yle.1_Missense_Mutation_p.R1500K	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1943	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GATAAACTCAGACAGCGCCCA	0.527000														54			10		0	0	1	0	0
NARG2	79664	broad.mit.edu	37	15	60720806	60720806	+	Missense_Mutation	SNP	A	G	G	rs148318569		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:60720806A>G	uc002agp.3	-	14	2877	c.2642T>C	c.(2641-2643)gTt>gCt	p.V881A	NARG2_uc002ago.3_Missense_Mutation_p.V744A	NM_024611	NP_001018099	Q659A1	NARG2_HUMAN	Homo sapiens NMDA receptor regulated 2 (NARG2), transcript variant 1, mRNA.	881						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						TGTCCTAGTAACTTTTCCATC	0.438000														39			9		0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50728628	50728628	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr22:50728628G>A	uc003bkv.4	-	2	479	c.386C>T	c.(385-387)tCc>tTc	p.S129F		NM_012401	NP_036533	O15031	PLXB2_HUMAN	Homo sapiens plexin B2 (PLXNB2), mRNA.	129	Sema.				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)		CAGGCGGAGGGAGATGTTGCT	0.652000														36			8		0	0	1	0	0
MATR3	9782	broad.mit.edu	37	5	138651799	138651799	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:138651799C>T	uc003ldw.3	+	5	1454	c.1051C>T	c.(1051-1053)Cca>Tca	p.P351S	MATR3_uc003ldt.3_Missense_Mutation_p.P13S|MATR3_uc003ldu.3_Missense_Mutation_p.P351S|MATR3_uc010jfb.3_Missense_Mutation_p.P351S|MATR3_uc003ldx.3_Missense_Mutation_p.P351S|MATR3_uc003ldy.3_Missense_Mutation_p.P28S|MATR3_uc003ldz.3_Missense_Mutation_p.P351S|MATR3_uc011czb.2_Missense_Mutation_p.P63S|MATR3_uc003leb.3_Missense_Mutation_p.P13S|MATR3_uc003lec.3_Missense_Mutation_p.P28S	NM_018834	NP_954659	P43243	MATR3_HUMAN	Homo sapiens matrin 3 (MATR3), transcript variant 2, mRNA.	351						nuclear inner membrane|nuclear matrix	RNA binding|nucleotide binding|protein binding|structural molecule activity|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GTCTACAAATCCAGCACCAGG	0.388000														114			15		0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	A	A	rs12366766		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:132547087G>A	uc001ujn.3	+	46	8327	c.8175G>A	c.(8173-8175)caG>caA	p.Q2725Q	EP400_uc021rgq.1_Silent_p.Q2724Q|EP400_uc001ujm.3_Silent_p.Q2644Q|EP400_uc001ujp.3_5'UTR	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	2761	Interaction with ZNF42 (By similarity).				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2724Q(32)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562000														43			12		0	0	1	0	0
GDPD4	220032	broad.mit.edu	37	11	76980007	76980007	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:76980007G>A	uc001oyf.3	-	7	837	c.586C>T	c.(586-588)Ccc>Tcc	p.P196S		NM_182833	NP_878253	Q6W3E5	GDPD4_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 4 (GDPD4), mRNA.	196					glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	p.P196T(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						GTTGGCTTGGGCCCCAAATTC	0.458000														92			18		0	0	1	0	0
BCAS1	8537	broad.mit.edu	37	20	52645041	52645041	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr20:52645041C>T	uc002xws.2	-	3	951	c.613G>A	c.(613-615)Gaa>Aaa	p.E205K	BCAS1_uc010zzb.1_Missense_Mutation_p.E108K|BCAS1_uc010gim.2_Missense_Mutation_p.E108K|BCAS1_uc002xwt.2_Missense_Mutation_p.E205K|BCAS1_uc010gil.1_Missense_Mutation_p.E205K|BCAS1_uc010zzc.2_Missense_Mutation_p.E108K	NM_003657	NP_003648	O75363	BCAS1_HUMAN	Homo sapiens breast carcinoma amplified sequence 1 (BCAS1), mRNA.	205						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)			GGCACCTTTTCCTGTCCCTTG	0.552000														192			38		0	0	1	0	0
CYP7B1	9420	broad.mit.edu	37	8	65527679	65527679	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:65527679C>T	uc003xvj.2	-	3	1165	c.961G>A	c.(961-963)Gaa>Aaa	p.E321K		NM_004820	NP_004811	O75881	CP7B1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily B, polypeptide 1 (CYP7B1), mRNA.	321					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity	p.D320D(2)|p.E321G(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				CGGTCAATTTCGTCACGCACT	0.488000														34			9		0	0	1	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16848076	16848076	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:16848076C>T	uc010rcu.1	-	9	949	c.934G>A	c.(934-936)Gaa>Aaa	p.E312K	PLEKHA7_uc001mmo.3_Missense_Mutation_p.E312K|PLEKHA7_uc001mmn.3_Missense_Mutation_p.E20K	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA.	312					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						CGGCCACATTCGTGACAGGAC	0.572000														149			23		0	0	1	0	0
BBS9	27241	broad.mit.edu	37	7	33427661	33427661	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:33427661C>T	uc003tdn.1	+	18	2533	c.2020C>T	c.(2020-2022)Cgg>Tgg	p.R674W	BBS9_uc003tdo.1_Missense_Mutation_p.R639W|BBS9_uc003tdp.1_Missense_Mutation_p.R669W|BBS9_uc003tdq.1_Missense_Mutation_p.R634W|BBS9_uc010kwn.1_Non-coding_Transcript|BBS9_uc003tdr.1_Missense_Mutation_p.R198W|BBS9_uc003tds.1_Missense_Mutation_p.R97W	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	Homo sapiens Bardet-Biedl syndrome 9 (BBS9), transcript variant 2, mRNA.	674					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	p.R674L(1)|p.R674Q(1)	BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TGTACAATTTCGGGCCATTCA	0.403000									Bardet-Biedl syndrome					146			40		0	0	1	0	0
OR10X1	128367	broad.mit.edu	37	1	158549611	158549611	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:158549611C>T	uc010pin.2	-	0	79	c.79G>A	c.(79-81)Gaa>Aaa	p.E27K		NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily X, member 1 (OR10X1), mRNA.	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E27K(2)		breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					AGAATGAATTCCTTCAGGATT	0.363000														75			10		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10359019	10359019	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:10359019G>A	uc002gmn.3	-	18	2197	c.2086C>T	c.(2086-2088)Cag>Tag	p.Q696*	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	696	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CACCTCAGCTGATGCAGGACA	0.498000														48			7		0	0	1	0	0
ANGEL1	23357	broad.mit.edu	37	14	77272972	77272972	+	Silent	SNP	T	C	C			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:77272972T>C	uc001xsv.3	-	4	1280	c.1167A>G	c.(1165-1167)gcA>gcG	p.A389A		NM_015305	NP_056120	Q9UNK9	ANGE1_HUMAN	Homo sapiens angel homolog 1 (Drosophila) (ANGEL1), mRNA.	389										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		TATGGGTATTTGCCACACACA	0.567000														69			19		0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	118950481	118950481	+	Silent	SNP	C	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:118950481C>A	uc004bjn.3	+	1	1845	c.1464C>A	c.(1462-1464)ccC>ccA	p.P488P	PAPPA_uc011lxp.1_Silent_p.P281P|PAPPA_uc011lxq.2_Silent_p.P281P	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	488	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GCTTTGACCCCGACTCTCCAC	0.483000														47			8		0.000157383	0.000157959	1	1	0
SRGAP3	9901	broad.mit.edu	37	3	9057395	9057395	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:9057395C>T	uc003brf.1	-	14	2375	c.1699G>A	c.(1699-1701)Gat>Aat	p.D567N	SRGAP3_uc003brg.1_Missense_Mutation_p.D543N|SRGAP3_uc003bri.1_Non-coding_Transcript	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	567	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TCATTTTGATCGTCCACAAGG	0.443000			T	RAF1	pilocytic astrocytoma									63			17		0	0	1	0	0
MAP3K10	4294	broad.mit.edu	37	19	40719928	40719929	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:40719928_40719929CC>TT	uc002ona.3	+	8	2630_2631	c.2342_2343CC>TT	c.(2341-2343)ccc>cTT	p.P781L		NM_002446	NP_002437	Q02779	M3K10_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 10 (MAP3K10), mRNA.	781					activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|JUN kinase kinase kinase activity|bHLH transcription factor binding|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						ccctccccgcccgcgcccacac	0.713000														10			3		0	0	1	0	0
WASF2	10163	broad.mit.edu	37	1	27736635	27736636	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:27736635_27736636GG>AA	uc001bof.2	-	7	1114_1115	c.889_890CC>TT	c.(889-891)cca>TTa	p.P297L	WASF2_uc010ofl.2_Intron	NM_006990	NP_008921	Q9Y6W5	WASF2_HUMAN	Homo sapiens WAS protein family, member 2 (WASF2), transcript variant 1, mRNA.	297					G-protein signaling, coupled to cAMP nucleotide second messenger|actin cytoskeleton organization	actin cytoskeleton|lamellipodium	actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		TGGATGGCTTGGGCTGACCACA	0.559000														67			9		0	0	1	0	0
TMEM150C	441027	broad.mit.edu	37	4	83425749	83425749	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:83425749G>A	uc011ccj.1	-	1	267	c.152C>T	c.(151-153)tCa>tTa	p.S51L	TMEM150C_uc003hmy.1_Missense_Mutation_p.S21L	NM_001080506	NP_001073975	B9EJG8	T150C_HUMAN	Homo sapiens transmembrane protein 150C (TMEM150C), mRNA.	21						integral to membrane				ovary(1)	1						CAATCCAGCTGAAGTAAACAA	0.348000														24			4		0	0	1	0	0
SV2B	9899	broad.mit.edu	37	15	91769536	91769536	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:91769536C>T	uc002bqv.3	+	2	934	c.43C>T	c.(43-45)Ccc>Tcc	p.P15S	SV2B_uc002bqt.3_Missense_Mutation_p.P15S|SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Intron	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA.	15					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			GGGCTATGCTCCCAGTGATGG	0.517000														57			22		0	0	1	0	0
OR6F1	343169	broad.mit.edu	37	1	247875181	247875181	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:247875181G>A	uc001idj.1	-	0	877	c.877C>T	c.(877-879)Cgt>Tgt	p.R293C		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily F, member 1 (OR6F1), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R293L(1)|p.R293H(1)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TCCTTATTACGAAGCGTATAG	0.438000														118			15		0	0	1	0	0
UNC5B	219699	broad.mit.edu	37	10	73046571	73046571	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr10:73046571G>A	uc001jro.3	+	4	1129	c.678G>A	c.(676-678)gtG>gtA	p.V226V	UNC5B_uc001jrp.3_Silent_p.V226V	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	Homo sapiens unc-5 homolog B (C. elegans) (UNC5B), transcript variant 1, mRNA.	226	Ig-like C2-type.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						ATACCTGCGTGGCCAAGAACA	0.632000														234			51		0	0	1	0	0
CDK3	1018	broad.mit.edu	37	17	73998612	73998612	+	Silent	SNP	C	G	G	rs61747000	byFrequency	TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:73998612C>G	uc002jqg.4	+	7	2343	c.591C>G	c.(589-591)cgC>cgG	p.R197R	CDK3_uc010dgt.3_Silent_p.R169R	NM_001258	NP_001249	Q00526	CDK3_HUMAN	Homo sapiens cyclin-dependent kinase 3 (CDK3), mRNA.	169	Protein kinase.				cell division|cell proliferation|mitosis		ATP binding|cyclin-dependent protein kinase activity			central_nervous_system(1)	1						TGTGGTATCGCGCCCCCGAGA	0.542000														58			13		0	0	1	0	0
RNF152	220441	broad.mit.edu	37	18	59483147	59483147	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr18:59483147C>T	uc002lih.1	-	1	962	c.550G>A	c.(550-552)Ggc>Agc	p.G184S	RNF152_uc021ula.1_Missense_Mutation_p.G184S	NM_173557	NP_775828	Q8N8N0	RN152_HUMAN	Homo sapiens ring finger protein 152 (RNF152), mRNA.	184					apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				AGCACGATGCCGAGGAGGAAG	0.567000														123			24		0	0	1	0	0
DDX5	1655	broad.mit.edu	37	17	62499389	62499389	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:62499389T>C	uc010deh.2	-	6	770	c.727A>G	c.(727-729)Acc>Gcc	p.T243A	DDX5_uc002jek.2_Missense_Mutation_p.T243A|DDX5_uc002jej.2_Missense_Mutation_p.T138A|DDX5_uc010wqa.1_Missense_Mutation_p.T164A|MIR3064_uc021ubr.1_5'Flank|MIR5047_uc021ubs.1_5'Flank|DDX5_uc002jel.1_5'UTR	NM_004396	NP_004387	P17844	DDX5_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 5 (DDX5), mRNA.	243	Helicase ATP-binding.				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|RNA helicase activity|mRNA binding|protein binding|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			ACAAGGTAGGTTGTTCTTCTC	0.368000			T	ETV4	prostate									96			23		0	0	1	0	0
CLEC10A	10462	broad.mit.edu	37	17	6980104	6980104	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:6980104C>T	uc002gek.3	-	4	603	c.300G>A	c.(298-300)acG>acA	p.T100T	CLEC10A_uc002gej.3_Silent_p.T100T|CLEC10A_uc010clv.2_Silent_p.T100T	NM_182906	NP_878910	Q8IUN9	CLC10_HUMAN	Homo sapiens C-type lectin domain family 10, member A (CLEC10A), transcript variant 1, mRNA.	100			T -> M (in dbSNP:rs35318160).		endocytosis|innate immune response	integral to membrane|plasma membrane	sugar binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						GAGATGCTATCGTTTCTTCCA	0.607000														277			65		0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13397441	13397441	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:13397441G>A	uc002mwy.3	-	19	3665	c.3429C>T	c.(3427-3429)agC>agT	p.S1143S	CACNA1A_uc010dzc.2_Silent_p.S669S|CACNA1A_uc010xnd.2_Silent_p.S1146S|CACNA1A_uc021ups.1_Silent_p.S1143S|CACNA1A_uc010xne.2_Silent_p.S1146S|CACNA1A_uc010dze.2_Silent_p.S1143S|CACNA1A_uc021upt.1_Silent_p.S1144S	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	1144					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TGACGATAAGGCTATTCTCGG	0.662000														37			10		0	0	1	0	0
SERPINB3	6317	broad.mit.edu	37	18	61305285	61305285	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr18:61305285C>T	uc002ljf.3	-	7	927	c.841G>A	c.(841-843)Gat>Aat	p.D281N	SERPINB3_uc002lje.3_Missense_Mutation_p.D260N|SERPINB3_uc002ljg.3_Missense_Mutation_p.D281N	NM_002974	NP_002965	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 4 (SERPINB4), mRNA.	281					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						AAGTGTAAATCGACACATGTC	0.403000														40			7		0	0	1	0	0
OR4C3	256144	broad.mit.edu	37	11	48347056	48347056	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:48347056C>T	uc010rhv.2	+	0	564	c.564C>T	c.(562-564)gtC>gtT	p.V188V		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA.	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TCCTCCTGGTCCTTTGGTTGC	0.517000														72			17		0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	96945212	96945212	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:96945212G>A	uc010how.1	+	3	1262	c.1219G>A	c.(1219-1221)Gaa>Aaa	p.E407K	EPHA6_uc003drp.1_Missense_Mutation_p.E407K	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	312	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.E313K(2)|p.E407K(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CTGTCAGTGTGAAAAGGGTTA	0.398000														136			44		0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28979385	28979385	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr18:28979385C>T	uc002kwr.2	+	8	1291	c.1156C>T	c.(1156-1158)Cat>Tat	p.H386Y	DSG4_uc002kwq.2_Missense_Mutation_p.H386Y	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	386	Cadherin 4.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ACCTGCATTTCATCCAAGTAC	0.418000														64			20		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31325478	31325478	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr18:31325478T>C	uc010dmg.1	+	11	5721	c.5666T>C	c.(5665-5667)gTt>gCt	p.V1889A	ASXL3_uc002kxq.2_Missense_Mutation_p.V1596A	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1889					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AACAGAATTGTTCACAGCCCT	0.512000														215			55		0	0	1	0	0
SLC16A9	220963	broad.mit.edu	37	10	61432545	61432545	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr10:61432545G>A	uc010qig.1	-	2	772	c.323C>T	c.(322-324)tCc>tTc	p.S108F		NM_194298	NP_919274	Q7RTY1	MOT9_HUMAN	Homo sapiens solute carrier family 16, member 9 (monocarboxylic acid transporter 9) (SLC16A9), mRNA.	108					urate metabolic process	integral to membrane|plasma membrane	symporter activity	p.S108fs*26(2)		kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						AATGCCATAGGAAAAAAACAG	0.428000														34			9		0	0	1	0	0
MAGOH	4116	broad.mit.edu	37	1	53699256	53699256	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:53699256C>T	uc001cvf.2	-	2	378	c.216G>A	c.(214-216)gaG>gaA	p.E72E	MAGOH_uc010ont.2_Intron	NM_002370	NP_002361	P61326	MGN_HUMAN	Homo sapiens mago-nashi homolog, proliferation-associated (Drosophila) (MAGOH), mRNA.	72					mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	RNA binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	6						ATGCATCATCCTCTTTGGTAA	0.418000														190			30		0	0	1	0	0
CD37	951	broad.mit.edu	37	19	49841189	49841189	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:49841189G>A	uc002pnd.3	+	4	471	c.350G>A	c.(349-351)cGa>cAa	p.R117Q	AK097351_uc002pnb.1_Intron|CD37_uc002pnc.3_Non-coding_Transcript|CD37_uc010yam.1_Missense_Mutation_p.R117Q|CD37_uc010yan.1_Missense_Mutation_p.R49Q|CD37_uc002pnf.3_Missense_Mutation_p.R89Q|CD37_uc002pne.3_Missense_Mutation_p.R49Q	NM_001774	NP_001035120	P11049	CD37_HUMAN	Homo sapiens CD37 molecule (CD37), transcript variant 1, mRNA.	117						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	11		all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443)		CAGCTGGAGCGAAGCTTGCGG	0.637000														63			16		0	0	1	0	0
KCNH2	3757	broad.mit.edu	37	7	150649923	150649923	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:150649923C>G	uc003wic.3	-	5	1548	c.1147G>C	c.(1147-1149)Gac>Cac	p.D383H	KCNH2_uc003wib.3_Missense_Mutation_p.D43H|KCNH2_uc011kux.2_Missense_Mutation_p.D287H|KCNH2_uc003wid.3_Missense_Mutation_p.D43H|KCNH2_uc003wie.3_Missense_Mutation_p.D383H	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA.	383					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	p.D383N(2)		NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GGCAGCACGTCGGCGCCCAGG	0.677000														111			7		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8389285	8389285	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:8389285C>T	uc003zkk.3	-	36	5076	c.4333G>A	c.(4333-4335)Gaa>Aaa	p.E1445K	PTPRD_uc003zkp.3_Missense_Mutation_p.E1039K|PTPRD_uc003zkq.3_Missense_Mutation_p.E1038K|PTPRD_uc003zkr.3_Missense_Mutation_p.E1029K|PTPRD_uc003zks.3_Missense_Mutation_p.E1038K|PTPRD_uc022bdj.1_Missense_Mutation_p.E1035K	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	1445	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CTCCGTTGTTCCCATATCATT	0.403000										TSP Lung(15;0.13)				96			27		0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33138617	33138617	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:33138617G>A	uc003ocx.1	-	45	3672	c.3444C>T	c.(3442-3444)ttC>ttT	p.F1148F	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Silent_p.F1062F|COL11A2_uc003ocz.1_Silent_p.F1041F	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	1148	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GGGGCCCATTGAATCCTCTTG	0.602000														164			7		0	0	1	0	0
MMP26	56547	broad.mit.edu	37	11	5009503	5009503	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:5009503C>T	uc001lzv.3	+	0	80	c.62C>T	c.(61-63)cCc>cTc	p.P21L		NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN	Homo sapiens matrix metallopeptidase 26 (MMP26), mRNA.	21					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		GTTCCAGTGCCCCCTGCTGCA	0.488000														136			23		0	0	1	0	0
PSG10P	653492	broad.mit.edu	37	19	43358101	43358101	+	Splice_Site	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:43358101G>A	uc010eip.3	-	2		c.529_splice	c.e2+1		PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG3_uc002oun.3_Intron					Homo sapiens pregnancy specific beta-1-glycoprotein 10, pseudogene (PSG10P), non-coding RNA.																		AATCACTTACGGTATAAGGTG	0.522000														299			63		0	0	1	0	0
TCOF1	6949	broad.mit.edu	37	5	149749138	149749138	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:149749138C>T	uc003lry.3	+	5	720	c.612C>T	c.(610-612)tcC>tcT	p.S204S	TCOF1_uc003lrw.3_Silent_p.S204S|TCOF1_uc003lrz.3_Silent_p.S204S|TCOF1_uc011dch.2_Silent_p.S204S|TCOF1_uc003lrx.3_Silent_p.S204S|TCOF1_uc003lsa.3_Silent_p.S204S	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	Homo sapiens Treacher Collins-Franceschetti syndrome 1 (TCOF1), transcript variant 4, mRNA.	204	Poly-Ser.				skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGACACCTCCAGCTCCAGTG	0.622000														67			18		0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70935696	70935696	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:70935696C>T	uc003pfg.4	-	36	2679	c.2520G>A	c.(2518-2520)aaG>aaA	p.K840K	COL9A1_uc003pfe.4_Silent_p.K389K|COL9A1_uc003pff.4_Silent_p.K597K	NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	840	Triple-helical region (COL1).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CACGCTCCCCCTTTTCTCCCA	0.423000														66			15		0	0	1	0	0
PDYN	5173	broad.mit.edu	37	20	1961379	1961379	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr20:1961379C>T	uc010gaj.3	-	2	597	c.355G>A	c.(355-357)Gag>Aag	p.E119K	AK090681_uc002wfu.1_Intron|PDYN_uc021vzs.1_Missense_Mutation_p.E119K|PDYN_uc021vzt.1_Missense_Mutation_p.E119K|PDYN_uc021vzu.1_Missense_Mutation_p.E119K|PDYN_uc002wfv.3_Missense_Mutation_p.E119K	NM_001190892	NP_077722	P01213	PDYN_HUMAN	Homo sapiens prodynorphin (PDYN), transcript variant 3, mRNA.	119					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity	p.K118_E119>N*(2)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGAGTGTTCTCCTTTGTTGAG	0.552000														84			18		0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186276033	186276033	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:186276033G>A	uc001gru.4	+	6	1233	c.1182G>A	c.(1180-1182)aaG>aaA	p.K394K	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Silent_p.K353K|PRG4_uc009wyl.3_Silent_p.K301K|PRG4_uc009wym.3_Silent_p.K260K|PRG4_uc010poo.2_Non-coding_Transcript	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	394	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CCACTCCCAAGGAGCCTGCAC	0.642000														83			17		0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119810202	119810202	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:119810202G>A	uc010inb.3	+	0	207	c.11G>A	c.(10-12)gGg>gAg	p.G4E	SYNPO2_uc010ina.3_Missense_Mutation_p.G4E|SYNPO2_uc003icm.4_Missense_Mutation_p.G4E|SYNPO2_uc011cgh.2_Missense_Mutation_p.G4E	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	4						Z disc|nucleus	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						ATGGGCACAGGGGATTTTATC	0.547000														76			17		0	0	1	0	0
PROZ	8858	broad.mit.edu	37	13	113826188	113826188	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr13:113826188G>A	uc001vta.1	+	7	979	c.972G>A	c.(970-972)ggG>ggA	p.G324G	PROZ_uc010agr.1_Silent_p.G346G	NM_003891	NP_003882	P22891	PROZ_HUMAN	Homo sapiens protein Z, vitamin K-dependent plasma glycoprotein (PROZ), transcript variant 2, mRNA.	324	Peptidase S1.				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|extracellular region	calcium ion binding|serine-type endopeptidase activity			NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	all cancers(43;0.104)		Menadione(DB00170)	TTGTGGAGGGGGAGGAGTGCG	0.632000														51			13		0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28720199	28720199	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr18:28720199G>A	uc002kwn.3	-	9	1588	c.1326C>T	c.(1324-1326)ttC>ttT	p.F442F	DSC1_uc002kwm.3_Silent_p.F442F	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	442	Cadherin 3.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CTGCTTTAGAGAATTGTGCCT	0.398000														80			17		0	0	1	0	0
CLEC14A	161198	broad.mit.edu	37	14	38724651	38724651	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:38724651G>A	uc001wum.1	-	0	924	c.577C>T	c.(577-579)Cgc>Tgc	p.R193C		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA.	193						integral to membrane	sugar binding	p.R193C(2)|p.R193R(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		AAGGGCGCGCGATAGCTCAAG	0.647000														70			19		0	0	1	0	0
LOC646214	646214	broad.mit.edu	37	15	21936679	21936679	+	RNA	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:21936679C>T	uc010tzj.1	-	0		c.4061G>A								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		CCCCTTTTTTCCACATCTGTT	0.403000														178			13		0	0	1	0	0
SLC36A1	206358	broad.mit.edu	37	5	150867796	150867796	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:150867796C>T	uc003luc.3	+	10	1629	c.1412C>T	c.(1411-1413)tCc>tTc	p.S471F		NM_078483	NP_510968	Q7Z2H8	S36A1_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 1 (SLC36A1), mRNA.	471					cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glycine(DB00145)|L-Alanine(DB00160)	TTCATCAATTCCACCTGTGCC	0.567000														47			8		0	0	1	0	0
MS4A8B	83661	broad.mit.edu	37	11	60482845	60482845	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:60482845C>T	uc001npv.3	+	6	914	c.711C>T	c.(709-711)acC>acT	p.T237T		NM_031457	NP_113645	Q9BY19	M4A8B_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 8B (MS4A8B), mRNA.	237						integral to membrane	receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						AACCGGTGACCTCACCACCAA	0.483000														47			6		0	0	1	0	0
LNPEP	4012	broad.mit.edu	37	5	96315306	96315306	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:96315306C>T	uc003kmv.1	+	1	998	c.484C>T	c.(484-486)Cca>Tca	p.P162S	LNPEP_uc003kmw.1_Missense_Mutation_p.P148S	NM_005575	NP_787116	Q9UIQ6	LCAP_HUMAN	Homo sapiens leucyl/cystinyl aminopeptidase (LNPEP), transcript variant 1, mRNA.	162					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.P162P(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		GAAATTGTTTCCATGGGCACA	0.463000														60			10		0	0	1	0	0
CD300C	10871	broad.mit.edu	37	17	72539102	72539102	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:72539102G>A	uc002jky.1	-	2	786	c.425C>T	c.(424-426)cCc>cTc	p.P142L		NM_006678	NP_006669	Q08708	CLM6_HUMAN	Homo sapiens CD300c molecule (CD300C), mRNA.	142	Pro-rich.				cellular defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						GGAGCTCTGGGGGCTGGAGGC	0.612000														98			12		0	0	1	0	0
GNG2	54331	broad.mit.edu	37	14	52433367	52433367	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:52433367C>T	uc001wzi.3	+	3	735	c.178C>T	c.(178-180)Ccg>Tcg	p.P60S	GNG2_uc001wzh.3_Non-coding_Transcript|GNG2_uc010aoc.2_Non-coding_Transcript|GNG2_uc021rte.1_Missense_Mutation_p.P60S|GNG2_uc001wzj.3_Missense_Mutation_p.P60S|GNG2_uc001wzk.3_Missense_Mutation_p.P60S	NM_053064	NP_444292	P59768	GBG2_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), gamma 2 (GNG2), transcript variant 1, mRNA.	60					cellular response to glucagon stimulus|energy reserve metabolic process|platelet activation|synaptic transmission	heterotrimeric G-protein complex	protein binding|signal transducer activity			lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	all_epithelial(31;0.0659)|Breast(41;0.0684)				Halothane(DB01159)	TTCAGAAAACCCGTTTAGGGA	0.522000														84			21		0	0	1	0	0
HELZ	9931	broad.mit.edu	37	17	65185812	65185812	+	Splice_Site	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:65185812G>A	uc010wqk.2	-	11	944	c.757_splice	c.e11-1	p.L253_splice	HELZ_uc002jfv.4_Splice_Site|HELZ_uc002jfx.4_Splice_Site_p.L253_splice	NM_014877	NP_055692			Homo sapiens helicase with zinc finger (HELZ), mRNA.											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CATTCACTAAGCTGAAAACAG	0.378000														59			13		0	0	1	0	0
TMEM176B	28959	broad.mit.edu	37	7	150493504	150493505	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:150493504_150493505CC>AT	uc022apx.1	-	0	279_280	c.153_154GG>AT	c.(151-156)ggggac>ggATac	p.D52Y	TMEM176B_uc003whu.4_Missense_Mutation_p.D52Y|TMEM176B_uc003whv.4_Missense_Mutation_p.D52Y|TMEM176B_uc003whw.4_Missense_Mutation_p.D52Y	NM_014020	NP_054739	Q3YBM2	T176B_HUMAN	Homo sapiens transmembrane protein 176B (TMEM176B), transcript variant 1, mRNA.	52					cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGCACAGTGTCCCCAGGGTGAA	0.564000														78			15		0	0	1	0	0
SHANK3	85358	broad.mit.edu	37	22	51159460	51159460	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr22:51159460G>A	uc003bne.1	+	21	3247	c.3247G>A	c.(3247-3249)Gac>Aac	p.D1083N	SHANK3_uc003bnf.1_Missense_Mutation_p.D530N	NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 3 (SHANK3), mRNA.	1083										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		CGCCGGCCGCGACCTGCTGCT	0.736000														22			9		0	0	1	0	0
MYH14	79784	broad.mit.edu	37	19	50760612	50760612	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:50760612G>A	uc010enu.1	+	17	2148	c.2101G>A	c.(2101-2103)Ggc>Agc	p.G701S	MYH14_uc002prq.1_Missense_Mutation_p.G668S|MYH14_uc002prr.1_Missense_Mutation_p.G660S	NM_001145809	NP_001139281	Q7Z406	MYH14_HUMAN	Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA.	660	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CCCACCAGGTGGCCGCCCCCG	0.627000														15			4		0	0	1	0	0
ERN1	2081	broad.mit.edu	37	17	62130146	62130146	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:62130146C>T	uc002jdz.2	-	16	2360	c.2247G>A	c.(2245-2247)gaG>gaA	p.E749E		NM_001433	NP_001424	O75460	ERN1_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 1 (ERN1), mRNA.	749	Protein kinase.				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						TCACAGGGTTCTCCTTACAGT	0.527000														36			6		0	0	1	0	0
PON1	5444	broad.mit.edu	37	7	94993240	94993240	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:94993240C>T	uc003unt.3	-	5	655	c.630G>A	c.(628-630)agG>agA	p.R210R	PON1_uc011kih.2_Intron|PON1_uc011kii.2_Silent_p.R258R	NM_000940	NP_000931	P27169	PON1_HUMAN	Homo sapiens paraoxonase 3 (PON3), mRNA.	211					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	CTTTAACCTCCCTTGGGCTGT	0.438000														187			24		0	0	1	0	0
FAM54A	113115	broad.mit.edu	37	6	136562768	136562768	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:136562768G>A	uc010kgp.1	-	4	718	c.328C>T	c.(328-330)Cct>Tct	p.P110S	FAM54A_uc003qgt.1_Missense_Mutation_p.P110S|FAM54A_uc003qgu.1_Missense_Mutation_p.P67S	NM_001099286	NP_612428	Q6P444	FA54A_HUMAN	Homo sapiens family with sequence similarity 54, member A (FAM54A), transcript variant 1, mRNA.	110										endometrium(2)|kidney(1)|large_intestine(5)|lung(1)|skin(2)	11	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00228)|OV - Ovarian serous cystadenocarcinoma(155;0.00504)		AGTCGCAAAGGATGAAAAATT	0.358000														49			5		0	0	1	0	0
OR11H6	122748	broad.mit.edu	37	14	20692342	20692342	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:20692342C>T	uc010tlc.2	+	0	474	c.474C>T	c.(472-474)ttC>ttT	p.F158F		NM_001004480	NP_001004480	Q8NGC7	O11H6_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 6 (OR11H6), mRNA.	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		CTGGGAAGTTCTGTATAATTC	0.463000														63			10		0	0	1	0	0
LRGUK	136332	broad.mit.edu	37	7	133827912	133827912	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:133827912C>T	uc003vrm.1	+	3	601	c.585C>T	c.(583-585)ctC>ctT	p.L195L		NM_144648	NP_653249	Q96M69	LRGUK_HUMAN	Homo sapiens leucine-rich repeats and guanylate kinase domain containing (LRGUK), mRNA.	195							ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						CCAAAAACCTCAAGGTAGACT	0.323000														94			7		0	0	1	0	0
TOX2	84969	broad.mit.edu	37	20	42694565	42694565	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr20:42694565C>T	uc010ggo.3	+	6	1214	c.1174C>T	c.(1174-1176)Ccg>Tcg	p.P392S	TOX2_uc002xle.4_Missense_Mutation_p.P350S|TOX2_uc010ggp.3_Missense_Mutation_p.P350S|TOX2_uc002xlf.4_Missense_Mutation_p.P374S|TOX2_uc010zwk.2_Missense_Mutation_p.P270S	NM_001098797	NP_116272	Q96NM4	TOX2_HUMAN	Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA.	374	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			GTCCCCGCCGCCGCCACCCTC	0.716000														56			12		0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20476961	20476961	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:20476961C>T	uc010bwe.3	+	3	539	c.300C>T	c.(298-300)gcC>gcT	p.A100A	ACSM2A_uc010bwd.1_Non-coding_Transcript|ACSM2A_uc010vax.1_Silent_p.A21A|ACSM2A_uc002dhf.4_Silent_p.A100A|ACSM2A_uc002dhg.4_Silent_p.A100A|ACSM2A_uc010vay.2_Silent_p.A21A	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	100					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						TCTCGGGAGCCTGTGGCCTGC	0.587000														113			5		0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130417074	130417074	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chrX:130417074C>T	uc004ewe.4	-	5	1115	c.832G>A	c.(832-834)Gag>Aag	p.E278K	IGSF1_uc004ewd.3_Missense_Mutation_p.E278K|IGSF1_uc022cdv.1_Missense_Mutation_p.E269K|IGSF1_uc004ewf.2_Missense_Mutation_p.E258K	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	278	Ig-like C2-type 3.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						AAATTTGCCTCATTTTTTATT	0.398000														21			21		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124399056	124399056	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:124399056C>T	uc001uft.4	+	59	10204	c.10179C>T	c.(10177-10179)ttC>ttT	p.F3393F		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	3393					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GCCAGCCTTTCCGGCTGGAAA	0.592000														42			9		0	0	1	0	0
PSG9	5678	broad.mit.edu	37	19	43762487	43762487	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:43762487C>T	uc002owd.4	-	4	1209	c.1110G>A	c.(1108-1110)ggG>ggA	p.G370G	PSG9_uc002owe.4_Silent_p.G277G|PSG9_uc010xwm.2_Silent_p.G277G|PSG9_uc002owf.4_Silent_p.G184G|PSG9_uc002owg.2_Silent_p.G277G	NM_002784	NP_002775	Q00887	PSG9_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.	370	Ig-like C2-type 3.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GCTGAAACTTCCCATTAATTG	0.443000														266			41		0	0	1	0	0
MGAT5B	146664	broad.mit.edu	37	17	74944083	74944083	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:74944083G>A	uc002jti.3	+	14	2225	c.2122G>A	c.(2122-2124)Gcc>Acc	p.A708T	MGAT5B_uc002jth.3_Missense_Mutation_p.A697T|MGAT5B_uc002jtj.3_Missense_Mutation_p.A104T	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN	Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B (MGAT5B), transcript variant 2, mRNA.	699						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCCTGGGAGGGCCTGCACCGA	0.682000														27			6		0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127730909	127730909	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:127730909G>A	uc003kuu.3	-	8	1576	c.1137C>T	c.(1135-1137)ctC>ctT	p.L379L	FBN2_uc003kuv.2_Silent_p.L346L	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	379	TB 2.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTCTCCCCGGGAGCTCTTGTG	0.532000														40			11		0	0	1	0	0
TAS2R39	259285	broad.mit.edu	37	7	142881207	142881207	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:142881207C>T	uc011ksw.2	+	0	696	c.696C>T	c.(694-696)atC>atT	p.I232I		NM_176881	NP_795362	P59534	T2R39_HUMAN	Homo sapiens taste receptor, type 2, member 39 (TAS2R39), mRNA.	232					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					CCCTGCTGATCCTCTCTCTCA	0.517000														134			29		0	0	1	0	0
GALNTL4	374378	broad.mit.edu	37	11	11400710	11400711	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:11400710_11400711GG>AA	uc001mjo.2	-	3	1117_1118	c.696_697CC>TT	c.(694-699)atccgc>atTTgc	p.R233C		NM_198516	NP_940918	Q6P9A2	GLTL4_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4 (GALNTL4), mRNA.	233	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26				all cancers(16;3.67e-05)|Epithelial(150;0.000184)		ACCCTGGAGCGGATGAGGCCTT	0.584000														46			4		0	0	1	0	0
OR5L2	26338	broad.mit.edu	37	11	55595228	55595228	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:55595228C>T	uc001nhy.1	+	0	534	c.534C>T	c.(532-534)ttC>ttT	p.F178F		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 2 (OR5L2), mRNA.	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				ACCACTTCTTCTGTGATCTAC	0.463000										HNSCC(27;0.073)				177			37		0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072928	17072928	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr22:17072928G>A	uc002zlp.1	-	0	773	c.513C>T	c.(511-513)acC>acT	p.T171T		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	171					cellular protein metabolic process	cytoplasm	ATP binding|anion channel activity|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				ACAGGGTGTGGGTATTCATCA	0.612000														82			21		0	0	1	0	0
ERG	2078	broad.mit.edu	37	21	39817410	39817410	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr21:39817410G>A	uc010gnw.3	-	3	469	c.174C>T	c.(172-174)gtC>gtT	p.V58V	ERG_uc021wjd.1_Silent_p.V58V|ERG_uc002yxa.3_Silent_p.V51V|ERG_uc011aek.2_Intron|ERG_uc010gnv.3_Intron|ERG_uc010gnx.3_Silent_p.V58V|ERG_uc011ael.2_Silent_p.V58V|ERG_uc002yxb.3_Silent_p.V58V|ERG_uc011aem.1_Silent_p.V51V|ERG_uc002yxc.4_Silent_p.V58V	NM_001243428	NP_001230357	P11308	ERG_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog (avian) (ERG), transcript variant 5, mRNA.	58					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				CCTGCTGAGGGACGCGTGGGC	0.562000			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""									64			9		0	0	1	0	0
ABCA10	10349	broad.mit.edu	37	17	67178857	67178857	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:67178857G>A	uc010dfa.1	-	21	3469	c.2590C>T	c.(2590-2592)Ccc>Tcc	p.P864S	ABCA10_uc010wqt.1_Non-coding_Transcript|ABCA10_uc010dfb.1_Missense_Mutation_p.P465S	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA.	864					transport	integral to membrane	ATP binding|ATPase activity	p.D863Y(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TTGTAGGAGGGATCATCTGAG	0.373000														83			30		0	0	1	0	0
CHRNB3	1142	broad.mit.edu	37	8	42587284	42587284	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:42587284C>T	uc003xpi.1	+	4	962	c.834C>T	c.(832-834)ttC>ttT	p.F278F		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 3 (CHRNB3), mRNA.	278					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TGACAGTTTTCCTTTTAGTGA	0.408000														119			29		0	0	1	0	0
LRWD1	222229	broad.mit.edu	37	7	102112964	102112964	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:102112964G>A	uc003uzn.3	+	12	1736	c.1598G>A	c.(1597-1599)cGg>cAg	p.R533Q		NM_152892	NP_690852	Q9UFC0	LRWD1_HUMAN	Homo sapiens leucine-rich repeats and WD repeat domain containing 1 (LRWD1), mRNA.	533					DNA-dependent DNA replication initiation|G1 phase of mitotic cell cycle|chromatin modification|establishment of protein localization to chromatin	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						TGGGGGGGCCGGGGCAGCCAG	0.701000														13			3		0	0	1	0	0
FDCSP	260436	broad.mit.edu	37	4	71096951	71096951	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:71096951G>A	uc003hfd.3	+	1	152	c.40G>A	c.(40-42)Gtg>Atg	p.V14M		NM_152997	NP_694542	Q8NFU4	FDSCP_HUMAN	Homo sapiens follicular dendritic cell secreted protein (FDCSP), mRNA.	14						extracellular region											CATCTTGGCAGTGGCTGTTGG	0.353000														55			12		0	0	1	0	0
BPIFB3	359710	broad.mit.edu	37	20	31652477	31652477	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr20:31652477C>T	uc002wym.1	+	7	750	c.750C>T	c.(748-750)atC>atT	p.I250I		NM_182658	NP_872599	P59826	LPLC3_HUMAN	Homo sapiens BPI fold containing family B, member 3 (BPIFB3), mRNA.	250					innate immune response	cytoplasm|extracellular region	lipid binding|protein binding	p.I250I(1)									TGCAGCCTATCGTGAAGAGTG	0.607000														79			9		0	0	1	0	0
SLC15A2	6565	broad.mit.edu	37	3	121647961	121647961	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:121647961C>T	uc003eep.2	+	15	1627	c.1474C>T	c.(1474-1476)Cgt>Tgt	p.R492C	SLC15A2_uc011bjn.1_Missense_Mutation_p.R461C	NM_021082	NP_066568	Q16348	S15A2_HUMAN	Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	492					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	TCTTGTCATTCGTGAAGATGG	0.398000														202			51		0	0	1	0	0
ANKFN1	162282	broad.mit.edu	37	17	54526461	54526461	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:54526461G>A	uc002iun.1	+	9	1165	c.1130G>A	c.(1129-1131)aGa>aAa	p.R377K		NM_153228	NP_694960	Q8N957	ANKF1_HUMAN	Homo sapiens ankyrin-repeat and fibronectin type III domain containing 1 (ANKFN1), mRNA.	377										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						TATGACGACAGAGAGCCCAGA	0.478000														50			16		0	0	1	0	0
CYP2F1	1572	broad.mit.edu	37	19	41622176	41622176	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:41622176G>A	uc002opu.1	+	1	139	c.83G>A	c.(82-84)gGa>gAa	p.G28E	CYP2F1_uc021uuv.1_Intron|CYP2F1_uc010xvv.1_Missense_Mutation_p.G28E|CYP2F1_uc002opv.1_Non-coding_Transcript	NM_000774	NP_000765	P24903	CP2F1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily F, polypeptide 1 (CYP2F1), mRNA.	28					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						AGAGATAAGGGAAAGCTGCCT	0.562000														283			35		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38997005	38997006	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:38997005_38997006CC>TT	uc002oit.3	+	54	8734_8735	c.8604_8605CC>TT	c.(8602-8607)tcccgg>tcTTgg	p.R2869W	RYR1_uc002oiu.3_Missense_Mutation_p.R2869W|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	2869	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TTACCCTGTCCCGGGAGCTGCA	0.589000														93			15		0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70070838	70070838	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:70070838G>A	uc010kak.3	+	27	3949	c.3673G>A	c.(3673-3675)Gaa>Aaa	p.E1225K	BAI3_uc003pev.4_Missense_Mutation_p.E1225K|BAI3_uc011dxx.2_Missense_Mutation_p.E431K	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	1225					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AAATGATGATGAAGAAGAAAA	0.413000														31			8		0	0	1	0	0
MTMR7	9108	broad.mit.edu	37	8	17198902	17198902	+	Missense_Mutation	SNP	G	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:17198902G>T	uc003wxm.3	-	5	941	c.702C>A	c.(700-702)gaC>gaA	p.D234E	MTMR7_uc003wxn.3_Missense_Mutation_p.D13E	NM_004686	NP_004677	Q9Y216	MTMR7_HUMAN	Homo sapiens myotubularin related protein 7 (MTMR7), mRNA.	234	Myotubularin phosphatase.						protein tyrosine phosphatase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		CATAAACGAAGTCACTTCCTG	0.562000														63			11		9.31168e-06	9.36284e-06	1	1	0
CCDC108	255101	broad.mit.edu	37	2	219903680	219903680	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:219903680G>A	uc002vjl.1	-	2	175	c.91C>T	c.(91-93)Cct>Tct	p.P31S	CCDC108_uc010zkp.1_Intron|CCDC108_uc010zkq.1_Intron|CCDC108_uc002vjn.3_Intron	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	31						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGAGAAGAGGAATAAGGGGG	0.443000														90			33		0	0	1	0	0
ADORA3	140	broad.mit.edu	37	1	112042717	112042717	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:112042717G>A	uc001ebh.4	-	1	1579	c.812C>T	c.(811-813)tCc>tTc	p.S271F	ADORA3_uc001ebg.4_Intron|ADORA3_uc001ebf.3_Intron	NM_000677	NP_000668	P33765	AA3R_HUMAN	Homo sapiens adenosine A3 receptor (ADORA3), transcript variant 2, mRNA.	271					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	GTTGGCATGGGACAGCAGGAT	0.438000														32			5		0	0	1	0	0
CYP4A11	1579	broad.mit.edu	37	1	47406926	47406926	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:47406926G>A	uc001cqp.4	-	0	231	c.180C>T	c.(178-180)ttC>ttT	p.F60F	CYP4A11_uc001cqq.2_Silent_p.F60F|CYP4A11_uc010omm.1_Non-coding_Transcript	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	60					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	GGATGTGCCCGAAGAGCCAGT	0.592000														66			12		0	0	1	0	0
KRT76	51350	broad.mit.edu	37	12	53169378	53169378	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:53169378G>A	uc001sax.3	-	1	663	c.609C>T	c.(607-609)ttC>ttT	p.F203F		NM_015848	NP_056932	Q01546	K22O_HUMAN	Homo sapiens keratin 76 (KRT76), mRNA.	203	Coil 1A.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCTGTTCCAGGAACCGCACCT	0.567000														78			20		0	0	1	0	0
ZNF132	7691	broad.mit.edu	37	19	58945792	58945792	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:58945792A>T	uc002qst.4	-	2	1420	c.1019T>A	c.(1018-1020)aTt>aAt	p.I340N		NM_003433	NP_003424	P52740	ZN132_HUMAN	Homo sapiens zinc finger protein 132 (ZNF132), mRNA.	340						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		TCCTGAGTGAATTCTCTGATG	0.408000														51			11		0	0	1	0	0
C20orf151	140893	broad.mit.edu	37	20	60988583	60988583	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr20:60988583G>A	uc002ycw.2	-	10	1746	c.1549C>T	c.(1549-1551)Cca>Tca	p.P517S		NM_080833	NP_543023	Q8NC74	CT151_HUMAN	Homo sapiens chromosome 20 open reading frame 151 (C20orf151), mRNA.	517	Pro-rich.									large_intestine(3)|lung(3)|prostate(1)|skin(4)|stomach(1)	12	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;6.43e-06)			TGGGACCCTGGAAGTGGGCGT	0.637000														46			13		0	0	1	0	0
MMEL1	79258	broad.mit.edu	37	1	2537756	2537756	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:2537756G>A	uc001ajy.2	-	7	895	c.681C>T	c.(679-681)ttC>ttT	p.F227F	MMEL1_uc009vlg.1_Non-coding_Transcript	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN	Homo sapiens membrane metallo-endopeptidase-like 1 (MMEL1), mRNA.	227					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		CGCGCCTGTTGAACTGTGAGT	0.662000														45			11		0	0	1	0	0
SLC13A5	284111	broad.mit.edu	37	17	6594132	6594132	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:6594132G>A	uc002gdj.3	-	9	1491	c.1403C>T	c.(1402-1404)aCc>aTc	p.T468I	SLC13A5_uc010clq.3_Missense_Mutation_p.T425I|SLC13A5_uc002gdk.3_Missense_Mutation_p.T451I|SLC13A5_uc010vtf.2_Missense_Mutation_p.T468I	NM_177550	NP_808218	Q86YT5	S13A5_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent citrate transporter), member 5 (SLC13A5), transcript variant 1, mRNA.	468						integral to membrane	citrate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						CAAGGTGGTGGTGGCCACGTT	0.562000														197			49		0	0	1	0	0
DLGAP4	22839	broad.mit.edu	37	20	35075257	35075257	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr20:35075257C>T	uc002xff.3	+	6	2000	c.1565C>T	c.(1564-1566)tCg>tTg	p.S522L	DLGAP4_uc010zvp.2_Missense_Mutation_p.S522L	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 4 (DLGAP4), transcript variant 1, mRNA.	522					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GCAGGCTGCTCGCAGGAGGAG	0.637000														25			6		0	0	1	0	0
SPNS2	124976	broad.mit.edu	37	17	4428422	4428422	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:4428422G>A	uc002fxx.2	+	2	721	c.507G>A	c.(505-507)gtG>gtA	p.V169V		NM_001124758	NP_001118230	Q8IVW8	SPNS2_HUMAN	Homo sapiens spinster homolog 2 (Drosophila) (SPNS2), mRNA.	169					lipid transport|transmembrane transport	integral to membrane				large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						ACAGGAAGGTGATTCTCAGCT	0.617000														150			41		0	0	1	0	0
KLC2	64837	broad.mit.edu	37	11	66031185	66031185	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:66031185C>T	uc010rov.1	+	5	1050	c.807C>T	c.(805-807)atC>atT	p.I269I	KLC2_uc010row.1_Silent_p.I269I|KLC2_uc001ohb.2_Silent_p.I269I|KLC2_uc010rox.1_Silent_p.I192I|KLC2_uc001ohc.2_Silent_p.I269I|KLC2_uc001ohd.2_Silent_p.I192I|KLC2_uc001ohe.1_Silent_p.I130I	NM_001134775	NP_073733	Q9H0B6	KLC2_HUMAN	Homo sapiens kinesin light chain 2 (KLC2), transcript variant 3, mRNA.	269					blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						CTCTGGCCATCCGGGAGAAAA	0.627000														77			13		0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55872796	55872796	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:55872796C>T	uc010riy.2	+	0	278	c.278C>T	c.(277-279)tCc>tTc	p.S93F		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					AACTATATTTCCTTTACGGGC	0.428000										HNSCC(53;0.14)				364			51		0	0	1	0	0
FAIM2	23017	broad.mit.edu	37	12	50284881	50284881	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:50284881T>C	uc001rvj.2	-	5	636	c.451A>G	c.(451-453)Acc>Gcc	p.T151A	FAIM2_uc001rvi.2_Missense_Mutation_p.T105A	NM_012306	NP_036438	Q9BWQ8	FAIM2_HUMAN	Homo sapiens Fas apoptotic inhibitory molecule 2 (FAIM2), mRNA.	151					anti-apoptosis|apoptosis	cell junction|integral to membrane|postsynaptic membrane				endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|skin(2)	14						GTCAGGTAGGTTGCAAAGAAC	0.542000														101			16		0	0	1	0	0
OR51B2	79345	broad.mit.edu	37	11	5345040	5345040	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:5345040G>A	uc001mao.1	-	0	543	c.488C>T	c.(487-489)tCa>tTa	p.S163L	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 2 (OR51B2), mRNA.	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATATGAAAATGAAAAAAGACG	0.398000														45			8		0	0	1	0	0
TCEA1	6917	broad.mit.edu	37	8	54912521	54912521	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:54912521G>A	uc003xru.3	-	2	539	c.216C>T	c.(214-216)tcC>tcT	p.S72S	TCEA1_uc003xrv.3_Silent_p.S51S|TCEA1_uc011ldw.2_Intron|TCEA1_uc003xrw.1_Non-coding_Transcript	NM_006756	NP_006747	P23193	TCEA1_HUMAN	Homo sapiens transcription elongation factor A (SII), 1 (TCEA1), transcript variant 1, mRNA.	72	TFIIS N-terminal.				positive regulation of viral transcription|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	nucleoplasm	DNA binding|translation elongation factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;9.1e-07)|Epithelial(17;9.44e-05)|all cancers(17;0.000699)			ATTTTTTCCAGGATTTGATGA	0.333000			T	PLAG1	salivary adenoma									6			3		0	0	1	0	0
MSANTD3-TMEFF1	100526694	broad.mit.edu	37	9	103204553	103204553	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:103204553C>T	uc004bay.2	+	0	366	c.333C>T	c.(331-333)atC>atT	p.I111I	MSANTD3-TMEFF1_uc022bkz.1_Silent_p.I111I|MSANTD3-TMEFF1_uc004baw.3_Silent_p.I111I|MSANTD3-TMEFF1_uc022bla.1_Silent_p.I111I|MSANTD3-TMEFF1_uc022blb.1_Silent_p.I111I|MSANTD3-TMEFF1_uc004bax.3_Non-coding_Transcript	NM_001198812	NP_001185741	Q8IYR6	TEFF1_HUMAN	Homo sapiens C9orf30-TMEFF1 readthrough (C9orf30-TMEFF1), mRNA.	0	Kazal-like 1.				multicellular organismal development	integral to membrane|plasma membrane		p.I111I(1)									AGGAGAAGATCGCCAGCATGC	0.582000														47			13		0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120608117	120608117	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:120608117G>A	uc001txo.3	-	14	1388	c.1375C>T	c.(1375-1377)Ctg>Ttg	p.L459L		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	459					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCCTGCAACAGCGTGTCACCT	0.532000														104			13		0	0	1	0	0
ZNF410	57862	broad.mit.edu	37	14	74360528	74360528	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:74360528C>T	uc010arz.2	+	2	512	c.62C>T	c.(61-63)tCc>tTc	p.S21F	ZNF410_uc001xoy.2_Non-coding_Transcript|ZNF410_uc010ary.2_Non-coding_Transcript|ZNF410_uc010tuf.2_Non-coding_Transcript|ZNF410_uc010tui.2_Non-coding_Transcript|ZNF410_uc001xpa.2_5'UTR|ZNF410_uc001xoz.2_Missense_Mutation_p.S21F|ZNF410_uc001xpb.2_Missense_Mutation_p.S21F|ZNF410_uc010tug.2_5'UTR|ZNF410_uc010tuh.2_Missense_Mutation_p.S21F	NM_001242924	NP_001229853	Q86VK4	ZN410_HUMAN	Homo sapiens zinc finger protein 410 (ZNF410), transcript variant 1, mRNA.	21					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.00369)		CAGAATACGTCCATCCCATTG	0.438000														71			20		0	0	1	0	0
OR51B5	282763	broad.mit.edu	37	11	5364072	5364072	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:5364072G>A	uc001map.1	-	0	683	c.683C>T	c.(682-684)tCc>tTc	p.S228F	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Missense_Mutation_p.S228F	NM_001005567	NP_001005567	Q9H339	O51B5_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 5 (OR51B5), transcript variant 1, mRNA.	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCCTCTCTGGAGGCAATGCT	0.443000														95			14		0	0	1	0	0
SLC15A2	6565	broad.mit.edu	37	3	121634153	121634153	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:121634153C>T	uc003eep.2	+	5	761	c.608C>T	c.(607-609)cCc>cTc	p.P203L	SLC15A2_uc011bjn.1_Missense_Mutation_p.P172L	NM_021082	NP_066568	Q16348	S15A2_HUMAN	Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	203					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding	p.T202T(1)		NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	TTTATCACACCCATGCTGAGA	0.443000														58			15		0	0	1	0	0
UGT2B17	7367	broad.mit.edu	37	4	69417586	69417586	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:69417586G>A	uc021xov.1	-	3	1092	c.1049C>T	c.(1048-1050)tCc>tTc	p.S350F		NM_001077	NP_001068	O75795	UDB17_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B17 (UGT2B17), mRNA.	350					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.G349C(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						TCGAGTATTGGAACCTAAAGT	0.353000														73			11		0	0	1	0	0
SLC27A2	11001	broad.mit.edu	37	15	50497527	50497527	+	Silent	SNP	T	G	G			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:50497527T>G	uc001zxw.3	+	3	1171	c.939T>G	c.(937-939)ggT>ggG	p.G313G	SLC27A2_uc010bes.3_Silent_p.G260G|SLC27A2_uc001zxx.3_Silent_p.G78G	NM_003645	NP_003636	O14975	S27A2_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 2 (SLC27A2), transcript variant 1, mRNA.	313					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		AGTATATCGGTGAACTGCTTC	0.428000														104			16		0	0	1	0	0
KRBA2	124751	broad.mit.edu	37	17	8272852	8272852	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:8272852G>A	uc002glf.1	-	1	1085	c.1079C>T	c.(1078-1080)tCc>tTc	p.S360F	KRBA2_uc002glg.1_Missense_Mutation_p.S277F	NM_213597	NP_998762	Q6ZNG9	KRBA2_HUMAN	Homo sapiens KRAB-A domain containing 2 (KRBA2), mRNA.	360	Integrase catalytic.				DNA integration|regulation of transcription, DNA-dependent	intracellular	DNA binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						TCCTTCCAGGGAGCCCTGGCT	0.502000														85			19		0	0	1	0	0
MLL	4297	broad.mit.edu	37	11	118373727	118373727	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:118373727C>T	uc001pta.3	+	26	7134	c.7111C>T	c.(7111-7113)Cat>Tat	p.H2371Y	MLL_uc001ptb.3_Missense_Mutation_p.H2374Y	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	2371					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		CCCACACCTCCATTTGAGAGG	0.448000			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""									46			10		0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	3	35770838	35770839	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:35770838_35770839CC>TT	uc011axy.2	+	12	1379_1380	c.1167_1168CC>TT	c.(1165-1170)tcccgc>tcTTgc	p.R390C	ARPP21_uc003cga.3_Missense_Mutation_p.R370C|ARPP21_uc003cgb.3_Missense_Mutation_p.R424C|ARPP21_uc003cgf.3_Missense_Mutation_p.R225C|ARPP21_uc003cgg.3_5'UTR	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA.	424	Ser-rich.					cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GATCGCTGTCCCGCACCCATCC	0.554000														72			13		0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111772375	111772375	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:111772375C>T	uc001tsa.2	+	18	3211	c.3057C>T	c.(3055-3057)tcC>tcT	p.S1019S		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	1019						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						AGGGCCGCTCCAGCTCCTCGT	0.657000														48			15		0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108409790	108409790	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:108409790C>T	uc001pkk.3	-	2	515	c.404G>A	c.(403-405)gGa>gAa	p.G135E	EXPH5_uc010rvz.2_5'Flank|EXPH5_uc010rvy.2_5'Flank	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	135					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AGTCTCCTTTCCAGATTTCCT	0.438000														71			20		0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	177001592	177001592	+	Splice_Site	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:177001592C>T	uc001glc.3	-	3	1077	c.865_splice	c.e3+1	p.G289_splice	ASTN1_uc001glb.1_Splice_Site_p.G289_splice|ASTN1_uc001gld.1_Splice_Site_p.G289_splice|ASTN1_uc009wwx.1_Splice_Site_p.G289_splice|ASTN1_uc001gle.4_Splice_Site	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	289					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CCATCCCCACCTGGTGTGAGG	0.587000														153			25		0	0	1	0	0
MMP28	79148	broad.mit.edu	37	17	34094838	34094838	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:34094838G>A	uc002hjy.1	-	7	1357	c.1098C>T	c.(1096-1098)gtC>gtT	p.V366V	MMP28_uc002hjw.1_Non-coding_Transcript|MMP28_uc002hjz.1_Non-coding_Transcript	NM_024302	NP_077278	Q9H239	MMP28_HUMAN	Homo sapiens matrix metallopeptidase 28 (MMP28), transcript variant 1, mRNA.	367	Hemopexin-like 1.				proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|lung(7)|ovary(1)|skin(5)	16		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GGGGCAGCCCGACCCATCTTT	0.542000														26			6		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228520913	228520913	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:228520913G>A	uc009xez.1	+	57	15789	c.15745G>A	c.(15745-15747)Gga>Aga	p.G5249R	OBSCN_uc001hsn.3_Missense_Mutation_p.G5249R|OBSCN_uc001hsr.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	5249					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGAGCAGGAGGGAACAGAGTC	0.652000														11			3		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40827881	40827881	+	Splice_Site	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr20:40827881G>A	uc002xkg.3	-	16	2675	c.2491_splice	c.e16+1	p.T831_splice	PTPRT_uc010ggj.3_Splice_Site_p.T850_splice|PTPRT_uc010ggi.3_Splice_Site_p.T34_splice	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	831					homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TCTACTTACTGAATCCGTTGA	0.562000														570			120		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21227188	21227188	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:21227188C>T	uc002red.3	-	27	12168	c.12040G>A	c.(12040-12042)Gat>Aat	p.D4014N		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	4014					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCATCTTCATCCATATCCATG	0.532000														35			14		0	0	1	0	0
PCDHB15	56121	broad.mit.edu	37	5	140626592	140626592	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:140626592C>T	uc003lje.3	+	0	1446	c.1446C>T	c.(1444-1446)acC>acT	p.T482T		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	Homo sapiens protocadherin beta 15 (PCDHB15), mRNA.	482	Cadherin 5.				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)			ACTCGGGCACCAACGCCCAGG	0.657000														168			44		0	0	1	0	0
KLRC4	8302	broad.mit.edu	37	12	10562066	10562066	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:10562066C>T	uc001qye.3	-	0	291	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K	KLRK1_uc001qyc.3_5'Flank|KLRK1_uc009zhk.3_5'UTR|KLRK1_uc001qyd.3_Intron	NM_013431	NP_038459	O43908	NKG2F_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily C, member 4 (KLRC4), mRNA.	37					cellular defense response	integral to membrane	binding|receptor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	5						TGGAATATTTCCTGTTTGGTT	0.393000														124			20		0	0	1	0	0
PHB	5245	broad.mit.edu	37	17	47489156	47489156	+	Missense_Mutation	SNP	A	C	C			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:47489156A>C	uc002iox.1	-	2	207	c.134T>G	c.(133-135)gTg>gGg	p.V45G		NM_002634	NP_002625	P35232	PHB_HUMAN	Homo sapiens prohibitin (PHB), mRNA.	45					DNA replication|cellular response to interleukin-6|glucocorticoid receptor signaling pathway|histone deacetylation|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|progesterone receptor signaling pathway|regulation of apoptosis	integral to plasma membrane|mitochondrial inner membrane|nucleoplasm	histone deacetylase binding|transcription regulatory region DNA binding			endometrium(4)|large_intestine(2)|lung(4)	10	all_cancers(4;2.62e-14)|Breast(4;4.21e-29)|all_epithelial(4;6.9e-18)		Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)			AATGTCCTGCACTCCACGGAA	0.463000														35			5		0	0	1	0	0
APOH	350	broad.mit.edu	37	17	64222231	64222231	+	Missense_Mutation	SNP	G	A	A	rs55645281		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:64222231G>A	uc002jfn.4	-	2	312	c.253C>T	c.(253-255)Cct>Tct	p.P85S		NM_000042	NP_000033	P02749	APOH_HUMAN	Homo sapiens apolipoprotein H (beta-2-glycoprotein I) (APOH), mRNA.	85	Sushi 2.				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			CCAGCAAAAGGACATACTCTG	0.318000														52			12		0	0	1	0	0
KCTD16	57528	broad.mit.edu	37	5	143586423	143586423	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:143586423C>T	uc003lnm.1	+	2	775	c.146C>T	c.(145-147)tCc>tTc	p.S49F	KCTD16_uc003lnn.1_Missense_Mutation_p.S49F	NM_020768	NP_065819	Q68DU8	KCD16_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 16 (KCTD16), mRNA.	49	BTB.					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			ATCCCTCATTCCCTCCTGTGG	0.478000														54			14		0	0	1	0	0
TRIML1	339976	broad.mit.edu	37	4	189060749	189060749	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:189060749G>A	uc003izm.1	+	0	152	c.37G>A	c.(37-39)Gaa>Aaa	p.E13K		NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	13					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		CCTCAGGGAGGAACTCACCTG	0.522000														139			34		0	0	1	0	0
TEC	7006	broad.mit.edu	37	4	48169925	48169925	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:48169925C>T	uc003gxz.3	-	6	632	c.541G>A	c.(541-543)Gaa>Aaa	p.E181K		NM_003215	NP_003206	P42680	TEC_HUMAN	Homo sapiens tec protein tyrosine kinase (TEC), mRNA.	181	SH3.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						ACGATTTCTTCACTATTATCT	0.383000														46			9		0	0	1	0	0
TTC14	151613	broad.mit.edu	37	3	180327498	180327498	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:180327498C>T	uc003fkk.3	+	11	1613	c.1481C>T	c.(1480-1482)tCt>tTt	p.S494F	TTC14_uc003fkl.3_3'UTR|TTC14_uc003fkm.2_Missense_Mutation_p.S494F	NM_133462	NP_597719	Q96N46	TTC14_HUMAN	Homo sapiens tetratricopeptide repeat domain 14 (TTC14), transcript variant 1, mRNA.	494	Poly-Ser.|Ser-rich.						RNA binding			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TCATCATCCTCTTCCTCTTCT	0.388000														37			11		0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166243485	166243485	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:166243485G>A	uc002udc.3	+	25	5071	c.4781G>A	c.(4780-4782)tGg>tAg	p.W1594*	SCN2A_uc002udd.3_Nonsense_Mutation_p.W1594*|SCN2A_uc002ude.3_Nonsense_Mutation_p.W1594*|SCN2A_uc021vry.1_Nonsense_Mutation_p.W94*	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	1594					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	ACTATTGGATGGAATATTTTT	0.333000														55			20		0	0	1	0	0
KIAA1211	57482	broad.mit.edu	37	4	57181783	57181783	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:57181783C>T	uc003hbk.2	+	7	2506	c.2115C>T	c.(2113-2115)tcC>tcT	p.S705S	KIAA1211_uc010iha.2_Silent_p.S698S|KIAA1211_uc011bzz.1_Silent_p.S615S|KIAA1211_uc003hbm.1_Silent_p.S591S	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	Homo sapiens KIAA1211 (KIAA1211), mRNA.	705										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GGTGTGATTCCCGCGGGAACC	0.582000														106			29		0	0	1	0	0
EMR3	84658	broad.mit.edu	37	19	14765819	14765819	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:14765819G>A	uc002mzi.4	-	5	700	c.552C>T	c.(550-552)gtC>gtT	p.V184V	EMR3_uc010dzp.3_Silent_p.V132V|EMR3_uc010xnv.2_Intron	NM_032571	NP_115960	Q9BY15	EMR3_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 3 (EMR3), mRNA.	184					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						GGATTTTCAGGACTTTTTGTT	0.433000														87			17		0	0	1	0	0
CXCL10	3627	broad.mit.edu	37	4	76943932	76943932	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:76943932T>C	uc003hjl.4	-	1	205	c.100A>G	c.(100-102)Agc>Ggc	p.S34G	ART3_uc003hji.3_Intron|ART3_uc003hjj.3_Intron|ART3_uc003hjk.3_Intron	NM_001565	NP_001556	P02778	CXL10_HUMAN	Homo sapiens chemokine (C-X-C motif) ligand 10 (CXCL10), mRNA.	34					blood circulation|cell surface receptor linked signaling pathway|cell-cell signaling|chemotaxis|inflammatory response|muscle organ development|positive regulation of cell proliferation	extracellular space	cAMP-dependent protein kinase regulator activity|chemokine activity			kidney(1)|large_intestine(1)|lung(1)	3			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TTACTAATGCTGATGCAGGTA	0.393000														83			17		0	0	1	0	0
LGSN	51557	broad.mit.edu	37	6	64004951	64004951	+	Splice_Site	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:64004951C>T	uc003peh.3	-	2	65	c.31_splice	c.e2-1	p.D11_splice	LGSN_uc003pei.3_Splice_Site_p.D11_splice|LGSN_uc003pej.1_Splice_Site_p.D11_splice	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	11					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	TTGTTGAGTCCTGTTGATAAT	0.323000														33			4		0	0	1	0	0
DOCK9	23348	broad.mit.edu	37	13	99520598	99520598	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr13:99520598G>A	uc001vnt.2	-	27	3035	c.2980C>T	c.(2980-2982)Cat>Tat	p.H994Y	DOCK9_uc001vnw.2_Missense_Mutation_p.H993Y|DOCK9_uc021rlw.1_Missense_Mutation_p.H993Y|DOCK9_uc001vnv.1_Non-coding_Transcript|DOCK9_uc010tir.1_Missense_Mutation_p.H994Y|DOCK9_uc010tis.1_Missense_Mutation_p.H993Y|DOCK9_uc010tit.1_Missense_Mutation_p.H994Y|DOCK9_uc010tiq.1_5'Flank|DOCK9_uc010afu.1_Missense_Mutation_p.H840Y	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	Homo sapiens dedicator of cytokinesis 9 (DOCK9), transcript variant 1, mRNA.	994					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ACTGCATGATGATAGGATGCA	0.383000														15			5		0	0	1	0	0
KBTBD12	166348	broad.mit.edu	37	3	127646797	127646797	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:127646797C>T	uc010hsr.3	+	1	1264	c.1261C>T	c.(1261-1263)Ccc>Tcc	p.P421S	KBTBD12_uc003ejy.4_Missense_Mutation_p.P28S|KBTBD12_uc010hsq.3_Intron|KBTBD12_uc003eka.4_Intron|KBTBD12_uc003ejz.2_Missense_Mutation_p.P421S	NM_207335	NP_997218	Q3ZCT8	KBTBC_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 12 (KBTBD12), mRNA.	421										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						AAGGGTGTCTCCCCTTCCACT	0.378000														32			15		0	0	1	0	0
C14orf159	80017	broad.mit.edu	37	14	91639693	91639693	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:91639693C>T	uc001xyw.2	+	5	869	c.517C>T	c.(517-519)Ccc>Tcc	p.P173S	C14orf159_uc010atv.1_Non-coding_Transcript|C14orf159_uc001xyy.2_Missense_Mutation_p.P173S|C14orf159_uc001xyz.2_Missense_Mutation_p.P44S|C14orf159_uc001xzb.2_Missense_Mutation_p.P168S|C14orf159_uc001xyx.2_Missense_Mutation_p.P168S|C14orf159_uc001xzc.2_Missense_Mutation_p.P168S|C14orf159_uc001xza.2_Missense_Mutation_p.P173S|C14orf159_uc001xyv.2_Missense_Mutation_p.P173S|C14orf159_uc001xze.2_Missense_Mutation_p.P168S	NM_001102368	NP_001095838	Q7Z3D6	CN159_HUMAN	Homo sapiens chromosome 14 open reading frame 159 (C14orf159), transcript variant 4, mRNA.	168						mitochondrion				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		CACGATGAGGCCCATTCCCAA	0.532000											OREG0022869	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		58			23		0	0	1	0	0
NEK5	341676	broad.mit.edu	37	13	52646152	52646152	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr13:52646152C>T	uc001vge.3	-	20	1992	c.1852G>A	c.(1852-1854)Gaa>Aaa	p.E618K		NM_199289	NP_954983	Q6P3R8	NEK5_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 5 (NEK5), mRNA.	618							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		CATTCATATTCCTTAAACTTC	0.343000														18			5		0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	55939081	55939081	+	Silent	SNP	A	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:55939081A>T	uc003pcs.3	-	19	2146	c.1914T>A	c.(1912-1914)ggT>ggA	p.G638G	COL21A1_uc010jzz.3_Silent_p.G23G|COL21A1_uc011dxg.2_Silent_p.G23G|COL21A1_uc011dxh.2_Silent_p.G23G|COL21A1_uc003pcr.3_5'UTR	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	638	Collagen-like 3.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TTCCCATTAAACCCTACAATT	0.323000														53			7		0	0	1	0	0
OR8B8	26493	broad.mit.edu	37	11	124310050	124310050	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:124310050G>A	uc010sal.2	-	0	932	c.932C>T	c.(931-933)tCc>tTc	p.S311F		NM_012378	NP_036510	Q15620	OR8B8_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 8 (OR8B8), mRNA.	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		CTTTTCTCAGGAGAATGCATT	0.388000														50			11		0	0	1	0	0
MSH3	4437	broad.mit.edu	37	5	80057441	80057441	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:80057441C>T	uc003kgz.3	+	12	2093	c.1840C>T	c.(1840-1842)Cat>Tat	p.H614Y		NM_002439	NP_002430	P20585	MSH3_HUMAN	Homo sapiens mutS homolog 3 (E. coli) (MSH3), mRNA.	614					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|Y-form DNA binding|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		GATAGAAAATCATCTACGTAA	0.388000								Mismatch excision repair (MMR)						60			15		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179423233	179423233	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:179423233C>T	uc021vsy.1	-	275	79474	c.79249G>A	c.(79249-79251)Gga>Aga	p.G26417R	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G20112R|TTN_uc021vta.1_Missense_Mutation_p.G20045R|TTN_uc021vtb.1_Missense_Mutation_p.G19920R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	27344	Fibronectin type-III 92.						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)			TTTTTCTGTCCTTTTTCTAGT	0.433000														20			10		0	0	1	0	0
FGB	2244	broad.mit.edu	37	4	155487105	155487105	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:155487105G>A	uc003ioa.4	+	1	299	c.260G>A	c.(259-261)aGa>aAa	p.R87K	FGB_uc010ipu.1_Non-coding_Transcript|FGB_uc010ipv.3_Intron	NM_005141	NP_005132	P02675	FIBB_HUMAN	Homo sapiens fibrinogen beta chain (FGB), transcript variant 1, mRNA.	87			Missing (in New York-1).		platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	AAAGTAGAAAGAAAAGCCCCT	0.582000														29			6		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141083389	141083389	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:141083389G>A	uc002tvj.1	-	79	13254	c.12282C>T	c.(12280-12282)atC>atT	p.I4094I		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	4094					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.S4093P(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CACTGCCAATGATGGAGAGCT	0.383000										TSP Lung(27;0.18)				28			13		0	0	1	0	0
KCNJ4	3761	broad.mit.edu	37	22	38823276	38823276	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr22:38823276C>T	uc003avs.1	-	1	959	c.862G>A	c.(862-864)Gtc>Atc	p.V288I	KCNJ4_uc003avt.1_Missense_Mutation_p.V288I|KCNJ4_uc021wpp.1_Missense_Mutation_p.V288I	NM_004981	NP_690607	P48050	IRK4_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 4 (KCNJ4), transcript variant 2, mRNA.	288					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	PDZ domain binding|inward rectifier potassium channel activity			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					TCCAGGATGACCACGATCTCA	0.627000														52			9		0	0	1	0	0
IGF2BP2	10644	broad.mit.edu	37	3	185390337	185390337	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:185390337G>A	uc003fpo.3	-	9	1271	c.1192C>T	c.(1192-1194)Ccc>Tcc	p.P398S	IGF2BP2_uc010hyi.3_Missense_Mutation_p.P341S|IGF2BP2_uc010hyj.3_Missense_Mutation_p.P335S|IGF2BP2_uc010hyk.3_Missense_Mutation_p.P262S|IGF2BP2_uc010hyl.3_Intron|IGF2BP2_uc003fpp.3_Intron|IGF2BP2_uc003fpq.3_Missense_Mutation_p.P403S	NM_006548	NP_006539	Q9Y6M1	IF2B2_HUMAN	Homo sapiens insulin-like growth factor 2 mRNA binding protein 2 (IGF2BP2), transcript variant 1, mRNA.	398					anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			ACAGTGAAGGGGTGGTAGGGG	0.592000														34			5		0	0	1	0	0
LOC643486	643486	broad.mit.edu	37	X	95592478	95592478	+	RNA	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chrX:95592478C>T	uc010nmx.3	-	0		c.424G>A								Homo sapiens bromodomain, testis-specific pseudogene (LOC643486), non-coding RNA.																		TTTCCCAGATCCCTCTGATTT	0.388000														7			9		0	0	1	0	0
PLCG1	5335	broad.mit.edu	37	20	39801100	39801100	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr20:39801100C>T	uc002xjp.1	+	25	3066	c.2945C>T	c.(2944-2946)tCc>tTc	p.S982F	PLCG1_uc002xjo.1_Missense_Mutation_p.S982F|PLCG1_uc010zwe.1_Missense_Mutation_p.S608F	NM_182811	NP_877963	P19174	PLCG1_HUMAN	Homo sapiens phospholipase C, gamma 1 (PLCG1), transcript variant 2, mRNA.	982	PI-PLC Y-box.				T cell receptor signaling pathway|activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GACATGTCATCCTTCCCGGAA	0.547000														46			16		0	0	1	0	0
ATP13A3	79572	broad.mit.edu	37	3	194151735	194151735	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:194151735G>A	uc003fty.4	-	22	2963	c.2561C>T	c.(2560-2562)aCc>aTc	p.T854I	ATP13A3_uc003ftz.1_Missense_Mutation_p.T560I	NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	Homo sapiens ATPase type 13A3 (ATP13A3), mRNA.	854					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		GGCAAACACGGTGCCATGCAA	0.368000														88			23		0	0	1	0	0
HOXB3	3213	broad.mit.edu	37	17	46627846	46627846	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:46627846C>T	uc002inn.3	-	1	1546	c.1146G>A	c.(1144-1146)ggG>ggA	p.G382G	HOXB3_uc010wlm.2_Silent_p.G309G|HOXB3_uc010dbf.3_Silent_p.G382G|HOXB3_uc010dbg.3_Silent_p.G382G|HOXB3_uc002ino.3_Silent_p.G382G|HOXB3_uc010wlk.2_Silent_p.G250G|HOXB3_uc010wll.2_Silent_p.G309G	NM_002146	NP_002137	P14651	HXB3_HUMAN	Homo sapiens homeobox B3 (HOXB3), mRNA.	382					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S381S(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						AGTCCAGGTTCCCGGAAGGGT	0.701000											OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		65			13		0	0	1	0	0
MARS	4141	broad.mit.edu	37	12	57883328	57883328	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:57883328C>T	uc001sog.3	+	3	555	c.401C>T	c.(400-402)cCt>cTt	p.P134L	ARHGAP9_uc001sod.3_5'Flank|ARHGAP9_uc001soe.1_5'Flank|MARS_uc001sof.1_Non-coding_Transcript|MARS_uc010srp.1_Intron|MARS_uc010srq.1_5'UTR	NM_004990	NP_004981	P56192	SYMC_HUMAN	Homo sapiens methionyl-tRNA synthetase (MARS), mRNA.	134	GST C-terminal.				methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	CAGAACTGTCCTTTCCTGGCT	0.498000														58			13		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103230099	103230099	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:103230099C>T	uc022ajr.1	-	27	4249	c.4089G>A	c.(4087-4089)ggG>ggA	p.G1363G	RELN_uc022ajq.1_Silent_p.G1363G|RELN_uc010liz.3_Silent_p.G1363G	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	1363					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTTCAAAGTCCCCTGTGTGAT	0.453000														133			16		0	0	1	0	0
A4GALT	53947	broad.mit.edu	37	22	43088980	43088980	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr22:43088980G>A	uc003bdb.3	-	2	1239	c.978C>T	c.(976-978)ttC>ttT	p.F326F	A4GALT_uc021wqo.1_Silent_p.F326F|A4GALT_uc021wqp.1_Silent_p.F326F|A4GALT_uc010gzd.3_Silent_p.F326F|A4GALT_uc021wqq.1_Silent_p.F326F	NM_017436	NP_059132	Q9NPC4	A4GAT_HUMAN	Homo sapiens alpha 1,4-galactosyltransferase (A4GALT), mRNA.	326					glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity			NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						ACGTGGCCTCGAACCGCGTGC	0.627000														41			13		0	0	1	0	0
LGSN	51557	broad.mit.edu	37	6	63990527	63990527	+	Missense_Mutation	SNP	T	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:63990527T>A	uc003peh.3	-	3	963	c.929A>T	c.(928-930)gAt>gTt	p.D310V	LGSN_uc003pei.3_Intron	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	310					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	AATCCCTGAATCACAAAATCC	0.418000														42			15		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149490454	149490454	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:149490454G>A	uc010lpk.3	+	38	5921	c.5921G>A	c.(5920-5922)gGg>gAg	p.G1974E		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	1977	VWFC 2.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CACCGTGTCGGGGAACGCTGG	0.677000														46			5		0	0	1	0	0
OR2B3	442184	broad.mit.edu	37	6	29055023	29055023	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:29055023C>T	uc003nlx.3	-	0	68	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_001005226	NP_001005226			Homo sapiens olfactory receptor, family 2, subfamily B, member 3 (OR2B3), mRNA.											breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						TTTCCCAATTCATGATGACTC	0.353000														25			8		0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55135500	55135500	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:55135500G>A	uc010rif.2	+	0	141	c.141G>A	c.(139-141)caG>caA	p.Q47Q		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						GGCTCACACAGAACCCTGAGG	0.428000														21			6		0	0	1	0	0
CILP2	148113	broad.mit.edu	37	19	19654548	19654548	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:19654548G>A	uc002nmw.4	+	7	1297	c.1212G>A	c.(1210-1212)gaG>gaA	p.E404E	CILP2_uc002nmv.4_Silent_p.E398E	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	398						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	p.E398E(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						AGCTCCCTGAGGACTGTGGTC	0.687000														280			77		0	0	1	0	0
UCP2	7351	broad.mit.edu	37	11	73688040	73688040	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:73688040G>A	uc001oup.1	-	4	740	c.360C>T	c.(358-360)ctC>ctT	p.L120L		NM_003355	NP_003346	P55851	UCP2_HUMAN	Homo sapiens uncoupling protein 2 (mitochondrial, proton carrier) (UCP2), nuclear gene encoding mitochondrial protein, mRNA.	120					proton transport|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding			large_intestine(1)|lung(3)|prostate(1)	5	Breast(11;0.000112)					TGCCTGCTAGGAGGCGGCTCC	0.632000														82			27		0	0	1	0	0
LRRC4B	94030	broad.mit.edu	37	19	51021747	51021747	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:51021747G>A	uc002pss.3	-	2	1360	c.1223C>T	c.(1222-1224)tCc>tTc	p.S408F		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	Homo sapiens leucine rich repeat containing 4B (LRRC4B), mRNA.	408	Ig-like C2-type.					cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		CACGCGGTAGGAGCCGTGGGT	0.632000														40			8		0	0	1	0	0
ZP1	22917	broad.mit.edu	37	11	60635114	60635114	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:60635114G>A	uc001nqd.3	+	0	100	c.80G>A	c.(79-81)tGg>tAg	p.W27*	ZP1_uc001nqe.3_5'Flank	NM_207341	NP_997224	P60852	ZP1_HUMAN	Homo sapiens zona pellucida glycoprotein 1 (sperm receptor) (ZP1), mRNA.	27					single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CTGGGTAGGTGGCTCCAGCCC	0.667000														41			7		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106641921	106641921	+	RNA	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:106641921C>T	uc021ser.1	-	1493		c.29464G>A								Parts of antibodies, mostly variable regions.																		CCTGGTTTCTCTCTCAGCCCT	0.582000														44			10		0	0	1	0	0
OR10C1	442194	broad.mit.edu	37	6	29408171	29408171	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:29408171G>A	uc011dlp.2	+	0	456	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	OR11A1_uc010jrh.1_Intron	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily C, member 1 (OR10C1), mRNA.	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						AGCCATCTGTGAACCCCTCCG	0.637000														57			10		0	0	1	0	0
DST	667	broad.mit.edu	37	6	56373515	56373515	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:56373515C>T	uc003pcy.4	-	55	11290	c.11182G>A	c.(11182-11184)Gag>Aag	p.E3728K		NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	6140					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGTATGTTCTCCCAAATGAAA	0.438000														26			4		0	0	1	0	0
ITGBL1	9358	broad.mit.edu	37	13	102344974	102344974	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr13:102344974G>A	uc001vpb.3	+	7	1274	c.1055G>A	c.(1054-1056)gGa>gAa	p.G352E	ITGBL1_uc010agb.3_Missense_Mutation_p.G303E|ITGBL1_uc001vpc.4_Missense_Mutation_p.G211E	NM_004791	NP_004782	O95965	ITGBL_HUMAN	Homo sapiens integrin, beta-like 1 (with EGF-like repeat domains) (ITGBL1), mRNA.	352	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TATCCTCCAGGAGATCGCCGG	0.483000														77			18		0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155658732	155658732	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:155658732C>T	uc001fln.3	-	0	92	c.36G>A	c.(34-36)acG>acA	p.T12T	GON4L_uc021paz.1_Intron|GON4L_uc009wqt.3_5'Flank|GON4L_uc001flh.3_5'Flank|GON4L_uc010pgi.2_5'Flank|GON4L_uc001fll.3_5'Flank|GON4L_uc001flk.3_5'Flank|GON4L_uc001flm.3_5'Flank|GON4L_uc009wqu.3_5'Flank|GON4L_uc009wqv.3_5'Flank|GON4L_uc009wqw.3_5'Flank|GON4L_uc001flj.3_5'Flank|GON4L_uc001fli.3_5'Flank|GON4L_uc001flo.3_5'UTR|GON4L_uc010pgj.2_Silent_p.T12T|GON4L_uc001flp.3_5'UTR|GON4L_uc009wqx.3_5'Flank|GON4L_uc010pgk.2_5'Flank|DAP3_uc010pgl.2_5'Flank|DAP3_uc010pgm.2_5'Flank|DAP3_uc001fls.3_5'Flank|DAP3_uc001flr.3_5'Flank|DAP3_uc001flq.3_5'Flank	NM_139118	NP_620829	Q3T8J9	GON4L_HUMAN	Homo sapiens YY1 associated protein 1 (YY1AP1), transcript variant 2, mRNA.	1418					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TCCCTGGGTTCGTCGCCGCGG	0.706000														13			7		0	0	1	0	0
IFNA16	3449	broad.mit.edu	37	9	21216968	21216968	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:21216968A>G	uc003zor.1	-	0	343	c.337T>C	c.(337-339)Ttc>Ctc	p.F113L	IFNA14_uc003zoo.1_Intron	NM_002173	NP_002164	P05015	IFN16_HUMAN	Homo sapiens interferon, alpha 16 (IFNA16), mRNA.	113					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	p.L112R(1)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		AGTTGCTGGAAAAGTTCAATG	0.473000														128			37		0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43411865	43411865	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:43411865G>A	uc002ovj.1	-	3	947	c.848C>T	c.(847-849)cCg>cTg	p.P283L	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Missense_Mutation_p.P123L|PSG4_uc002ovg.1_Missense_Mutation_p.P283L	NM_002782	NP_002773	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 1, mRNA.	284	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region		p.S282*(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				CTTTACCCTCGGACTGACCGG	0.488000														285			65		0	0	1	0	0
GAS2L2	246176	broad.mit.edu	37	17	34072975	34072975	+	Missense_Mutation	SNP	G	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:34072975G>T	uc002hjv.2	-	5	1569	c.1541C>A	c.(1540-1542)aCa>aAa	p.T514K		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.	514					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCTTCCTGGTGTTGGGGGGCG	0.612000														63			13		1.49906e-05	1.50638e-05	1	1	0
GRIN2A	2903	broad.mit.edu	37	16	10031959	10031959	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:10031959C>T	uc010uym.2	-	3	1174	c.864G>A	c.(862-864)ctG>ctA	p.L288L	GRIN2A_uc002czo.4_Silent_p.L288L|GRIN2A_uc010uyn.2_Silent_p.L131L|GRIN2A_uc002czr.4_Silent_p.L288L	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	288					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CTCTCGCCTCCAGGCTGTAGT	0.562000														35			5		0	0	1	0	0
STYK1	55359	broad.mit.edu	37	12	10774549	10774549	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:10774549G>A	uc001qys.2	-	9	1511	c.990C>T	c.(988-990)gtC>gtT	p.V330V		NM_018423	NP_060893	Q6J9G0	STYK1_HUMAN	Homo sapiens serine/threonine/tyrosine kinase 1 (STYK1), mRNA.	330	Protein kinase.					integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						TGGTAGGAGGGACTTCAGGAT	0.423000										HNSCC(73;0.22)				82			20		0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	93003922	93003922	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:93003922C>T	uc022axs.1	-	6	1300	c.1113G>A	c.(1111-1113)agG>agA	p.R371R	RUNX1T1_uc003yfc.2_Silent_p.R285R|RUNX1T1_uc010mam.3_Silent_p.R285R|RUNX1T1_uc003yfe.2_Silent_p.R275R|RUNX1T1_uc003yfd.3_Silent_p.R312R|RUNX1T1_uc022axo.1_Silent_p.R312R|RUNX1T1_uc010mao.3_Silent_p.R285R|RUNX1T1_uc011lgi.2_Silent_p.R323R|RUNX1T1_uc022axp.1_Silent_p.R312R|RUNX1T1_uc022axq.1_Silent_p.R312R|RUNX1T1_uc022axr.1_Silent_p.R312R|RUNX1T1_uc022axt.1_Silent_p.R312R|RUNX1T1_uc022axu.1_Silent_p.R292R|RUNX1T1_uc022axv.1_Silent_p.R312R|RUNX1T1_uc010man.2_5'UTR|RUNX1T1_uc003yfb.2_Silent_p.R275R	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.	312	Important for oligomerization.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S371I(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GATAGGAGTCCCTGTAGTGGT	0.547000														106			26		0	0	1	0	0
TLR7	51284	broad.mit.edu	37	X	12904996	12904996	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chrX:12904996C>T	uc004cvc.3	+	2	1508	c.1369C>T	c.(1369-1371)Ccc>Tcc	p.P457S		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	Homo sapiens toll-like receptor 7 (TLR7), mRNA.	457					I-kappaB phosphorylation|cellular response to mechanical stimulus|defense response to virus|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|siRNA binding|single-stranded RNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	AAGTTATGAACCCCAGGTCCT	0.363000														31			10		0	0	1	0	0
FAM26E	254228	broad.mit.edu	37	6	116833295	116833295	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:116833295C>T	uc003pwy.3	+	0	488	c.436C>T	c.(436-438)Ccc>Tcc	p.P146S	BET3L_uc003pwx.3_Intron|BET3L_uc011ebh.2_Intron	NM_153711	NP_714922	Q8N5C1	FA26E_HUMAN	Homo sapiens family with sequence similarity 26, member E (FAM26E), mRNA.	146						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)		CAAGGGTAAGCCCAAAGAGTG	0.483000														42			6		0	0	1	0	0
OR8B8	26493	broad.mit.edu	37	11	124310841	124310841	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:124310841G>A	uc010sal.2	-	0	141	c.141C>T	c.(139-141)acC>acT	p.T47T		NM_012378	NP_036510	Q15620	OR8B8_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 8 (OR8B8), mRNA.	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GCCTTATCAGGGTTATCAAGC	0.483000														77			18		0	0	1	0	0
ARNTL2	56938	broad.mit.edu	37	12	27521277	27521277	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:27521277G>A	uc001rht.2	+	1	333	c.114G>A	c.(112-114)atG>atA	p.M38I	ARNTL2_uc001rhu.2_Missense_Mutation_p.M38I|ARNTL2_uc001rhv.2_Missense_Mutation_p.M38I|ARNTL2_uc001rhw.3_Missense_Mutation_p.M49I|ARNTL2_uc010sjp.2_Missense_Mutation_p.M49I|ARNTL2_uc009zji.2_Missense_Mutation_p.M38I	NM_020183	NP_064568	Q8WYA1	BMAL2_HUMAN	Homo sapiens aryl hydrocarbon receptor nuclear translocator-like 2 (ARNTL2), transcript variant 1, mRNA.	38					circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					CAACAGCTATGGGGTCTTTCA	0.502000														68			9		0	0	1	0	0
MAST2	23139	broad.mit.edu	37	1	46489570	46489570	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:46489570C>T	uc001cov.3	+	14	1981	c.1698C>T	c.(1696-1698)ttC>ttT	p.F566F	MAST2_uc001cow.3_Silent_p.F566F|MAST2_uc001coy.1_Silent_p.F240F|MAST2_uc001coz.1_Silent_p.F451F|MAST2_uc009vya.3_Silent_p.F488F|MAST2_uc001cpa.3_Non-coding_Transcript	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 2 (MAST2), mRNA.	566	Protein kinase.				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					TACTGACTTTCGCTGAGAACC	0.532000														64			10		0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164783091	164783091	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:164783091C>T	uc003fei.3	-	6	828	c.765G>A	c.(763-765)tgG>tgA	p.W255*		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	255	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GCCATGTTTTCCAGGATAAAT	0.338000										HNSCC(35;0.089)				48			17		0	0	1	0	0
TMEM53	79639	broad.mit.edu	37	1	45120617	45120617	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:45120617T>C	uc001cmc.3	-	2	484	c.448A>G	c.(448-450)Aac>Gac	p.N150D	TMEM53_uc001cmd.3_Missense_Mutation_p.N77D|TMEM53_uc009vxh.1_Missense_Mutation_p.N33D|TMEM53_uc010ola.1_Missense_Mutation_p.N33D	NM_024587	NP_078863	Q6P2H8	TMM53_HUMAN	Homo sapiens transmembrane protein 53 (TMEM53), mRNA.	150						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(3)|ovary(2)|urinary_tract(1)	10	Acute lymphoblastic leukemia(166;0.155)					CCTACCAGGTTGCTGTCACCA	0.672000														26			6		0	0	1	0	0
TNIK	23043	broad.mit.edu	37	3	170893073	170893073	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:170893073C>T	uc003fhh.2	-	8	1086	c.741G>A	c.(739-741)cgG>cgA	p.R247R	TNIK_uc003fhi.2_Silent_p.R247R|TNIK_uc003fhj.2_Silent_p.R247R|TNIK_uc003fhk.2_Silent_p.R247R|TNIK_uc003fhl.2_Silent_p.R247R|TNIK_uc003fhm.2_Silent_p.R247R|TNIK_uc003fhn.2_Silent_p.R247R|TNIK_uc003fho.2_Silent_p.R247R	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	Homo sapiens TRAF2 and NCK interacting kinase (TNIK), transcript variant 1, mRNA.	247	Protein kinase.				Wnt receptor signaling pathway|actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GCGCTGGGTTCCGGGGGATGA	0.512000														18			3		0	0	1	0	0
IFNA16	3449	broad.mit.edu	37	9	21216966	21216966	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:21216966G>A	uc003zor.1	-	0	345	c.339C>T	c.(337-339)ttC>ttT	p.F113F	IFNA14_uc003zoo.1_Intron	NM_002173	NP_002164	P05015	IFN16_HUMAN	Homo sapiens interferon, alpha 16 (IFNA16), mRNA.	113					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	p.L112R(1)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		TCAGTTGCTGGAAAAGTTCAA	0.473000														132			36		0	0	1	0	0
PUS7L	83448	broad.mit.edu	37	12	44125510	44125510	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:44125510G>A	uc001rns.4	-	7	1857	c.1777C>T	c.(1777-1779)Cag>Tag	p.Q593*	PUS7L_uc001rnq.4_Nonsense_Mutation_p.Q593*|PUS7L_uc001rnr.4_Nonsense_Mutation_p.Q593*|PUS7L_uc009zkb.3_Nonsense_Mutation_p.Q280*	NM_031292	NP_112582	Q9H0K6	PUS7L_HUMAN	Homo sapiens pseudouridylate synthase 7 homolog (S. cerevisiae)-like (PUS7L), transcript variant 3, mRNA.	593	TRUD.				pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		AAATTTACCTGATGTATTGCA	0.313000														17			8		0	0	1	0	0
CRYBG3	131544	broad.mit.edu	37	3	97619322	97619322	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:97619322C>T	uc003drx.3	+	11	2217	c.2153C>T	c.(2152-2154)cCg>cTg	p.P718L	CRYBG3_uc021xbn.1_Missense_Mutation_p.P718L					RecName: Full=Beta/gamma crystallin domain-containing protein 3;											breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						AATGAACCTCCGCATTTGGTA	0.274000														11			3		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140798931	140798931	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:140798931C>T	uc003lkn.2	+	0	1672	c.1505C>T	c.(1504-1506)tCg>tTg	p.S502L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkm.3_Missense_Mutation_p.S502L|PCDHGC5_uc003lko.1_5'Flank|PCDHGC5_uc003lkq.2_5'Flank|PCDHGC5_uc003lkp.2_5'Flank	NM_018927	NP_061750	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 7 (PCDHGB7), transcript variant 1, mRNA.	504	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S502L(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAACGCTGTCGTCCTACGTG	0.657000														104			26		0	0	1	0	0
VNN1	8876	broad.mit.edu	37	6	133013597	133013597	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:133013597G>A	uc003qdo.3	-	4	973	c.953C>T	c.(952-954)tCc>tTc	p.S318F		NM_004666	NP_004657	O95497	VNN1_HUMAN	Homo sapiens vanin 1 (VNN1), mRNA.	318	CN hydrolase.				acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		GCTGGCATAGGAAGTCCAGTT	0.443000														34			5		0	0	1	0	0
SLC6A3	6531	broad.mit.edu	37	5	1420810	1420810	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:1420810C>T	uc003jck.3	-	5	927	c.801G>A	c.(799-801)tgG>tgA	p.W267*		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA.	267					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	TGGCTGTGATCCATACCACCT	0.632000														69			27		0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140529985	140529985	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:140529985G>A	uc003lir.3	+	0	147	c.147G>A	c.(145-147)aaG>aaA	p.K49K		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	49	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTTGACAAAGGACCTGGGAC	0.502000														106			18		0	0	1	0	0
ERN2	10595	broad.mit.edu	37	16	23721867	23721867	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:23721867G>A	uc002dma.4	-	2	516	c.347C>T	c.(346-348)cCc>cTc	p.P116L	ERN2_uc010bxp.3_Missense_Mutation_p.P116L|ERN2_uc010bxq.1_5'UTR	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA.	68					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		TTCGATGACGGGATCTGCAGG	0.507000														211			53		0	0	1	0	0
GALNTL2	117248	broad.mit.edu	37	3	16252648	16252648	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:16252648G>A	uc003car.4	+	4	1572	c.1097G>A	c.(1096-1098)gGa>gAa	p.G366E	GALNTL2_uc003caq.4_Missense_Mutation_p.G99E	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2 (GALNTL2), mRNA.	366	Catalytic subdomain B.					Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|breast(3)|endometrium(4)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(1)|stomach(1)	33						GTGGTGCCCGGAGAGGTGGTG	0.577000														85			13		0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94669541	94669541	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:94669541G>A	uc001dqj.4	-	7	1076	c.707C>T	c.(706-708)tCc>tTc	p.S236F	ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dql.3_Missense_Mutation_p.S236F	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	236					Rho protein signal transduction	cytosol	Rho GTPase activator activity|metal ion binding	p.S236S(1)		NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		ATTTCTAGTGGACTCCAATTC	0.348000														31			5		0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45833815	45833815	+	Missense_Mutation	SNP	G	A	A	rs148308750		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr21:45833815G>A	uc010gpt.1	+	19	3104	c.3004G>A	c.(3004-3006)Gac>Aac	p.D1002N	TRPM2_uc002zet.1_Missense_Mutation_p.D1002N|TRPM2_uc002zeu.1_Missense_Mutation_p.D1002N|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.D1002N|TRPM2_uc002zex.1_Missense_Mutation_p.D788N|TRPM2_uc002zey.1_Missense_Mutation_p.D515N	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	1002						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CAATGGCACCGACCCCTACAA	0.607000														305			79		0	0	1	0	0
PRR14L	253143	broad.mit.edu	37	22	32108221	32108221	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr22:32108221G>A	uc003alp.4	-	3	5797	c.5604C>T	c.(5602-5604)tcC>tcT	p.S1868S	PRR14L_uc003alo.2_Silent_p.S1667S|PRR14L_uc010gwj.1_Silent_p.S1667S	NM_173566	NP_775837	Q5THK1	PR14L_HUMAN	Homo sapiens proline rich 14-like (PRR14L), mRNA.	1868										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						TGTCTGCTATGGAGGCTGGAG	0.527000														121			24		0	0	1	0	0
MIB2	142678	broad.mit.edu	37	1	1558797	1558797	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:1558797C>T	uc001agg.3	+	2	355	c.310C>T	c.(310-312)Ccc>Tcc	p.P104S	MIB2_uc001agh.3_Intron|MIB2_uc001agi.3_Missense_Mutation_p.P104S|MIB2_uc001agj.3_5'UTR|MIB2_uc001agk.3_Missense_Mutation_p.P104S|MIB2_uc001agl.2_Missense_Mutation_p.P3S|MIB2_uc001agm.3_Intron|MIB2_uc010nyq.2_Missense_Mutation_p.P3S|MIB2_uc009vkh.3_5'Flank|MIB2_uc001agn.3_5'Flank	NM_080875	NP_543151	Q96AX9	MIB2_HUMAN	Homo sapiens mindbomb homolog 2 (Drosophila) (MIB2), transcript variant 1, mRNA.	47	MIB/HERC2 1.				Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CACCATGGACCCCTCTGCCCA	0.706000														16			3		0	0	1	0	0
AQP8	343	broad.mit.edu	37	16	25235772	25235772	+	Silent	SNP	G	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:25235772G>T	uc002doc.3	+	3	559	c.477G>T	c.(475-477)gtG>gtT	p.V159V		NM_001169	NP_001160	O94778	AQP8_HUMAN	Homo sapiens aquaporin 8 (AQP8), mRNA.	159					cellular response to cAMP	integral to plasma membrane	water channel activity			NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16				GBM - Glioblastoma multiforme(48;0.044)		GGGCGTTGGTGGCAGAGATCA	0.612000														71			9		2.17888e-05	2.18818e-05	1	1	0
PTPRD	5789	broad.mit.edu	37	9	8500899	8500899	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:8500899C>T	uc003zkk.3	-	23	2726	c.1983G>A	c.(1981-1983)gaG>gaA	p.E661E	PTPRD_uc003zkp.3_Intron|PTPRD_uc003zkq.3_Intron|PTPRD_uc003zkr.3_Intron|PTPRD_uc003zks.3_Intron|PTPRD_uc022bdj.1_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	661	Fibronectin type-III 4.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TTCCCAAAATCTCGTGAGGCT	0.463000										TSP Lung(15;0.13)				167			35		0	0	1	0	0
EMR1	2015	broad.mit.edu	37	19	6921782	6921782	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:6921782G>A	uc002mfw.3	+	13	1717	c.1679G>A	c.(1678-1680)gGa>gAa	p.G560E	EMR1_uc010dvc.3_Missense_Mutation_p.G560E|EMR1_uc010dvb.3_Missense_Mutation_p.G508E|EMR1_uc010xji.2_Missense_Mutation_p.G419E|EMR1_uc010xjj.2_Missense_Mutation_p.G383E	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	560	GPS.|Ser/Thr-rich.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					GTGAAGGGTGGAAGATGGACA	0.438000														49			14		0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32170060	32170060	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:32170060C>T	uc003obb.3	-	20	3687	c.3548G>A	c.(3547-3549)gGa>gAa	p.G1183E	NOTCH4_uc003oba.3_5'UTR|NOTCH4_uc011dpu.2_Intron|NOTCH4_uc011dpv.2_Intron	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	1183					Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GGCCCCATCTCCACTTCTGCC	0.677000														34			6		0	0	1	0	0
ZBTB11	27107	broad.mit.edu	37	3	101384585	101384585	+	Missense_Mutation	SNP	G	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:101384585G>T	uc003dve.4	-	3	1076	c.846C>A	c.(844-846)ttC>ttA	p.F282L		NM_014415	NP_055230	O95625	ZBT11_HUMAN	Homo sapiens zinc finger and BTB domain containing 11 (ZBTB11), mRNA.	282	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CCATGCTACAGAAATCAAAAC	0.373000														37			11		0.00136819	0.00137236	1	1	0
SLC5A8	160728	broad.mit.edu	37	12	101603315	101603315	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:101603315G>A	uc001thz.4	-	0	702	c.312C>T	c.(310-312)ctC>ctT	p.L104L		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	Homo sapiens solute carrier family 5 (iodide transporter), member 8 (SLC5A8), mRNA.	104					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AGAACACCGGGAGGAAGACCT	0.592000														20			5		0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93837869	93837869	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:93837869G>A	uc001pep.2	+	15	3015	c.2858G>A	c.(2857-2859)cGa>cAa	p.R953Q	AF086184_uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	953	Plastocyanin-like 6.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				AAAGATCCACGAGATTTTAAG	0.343000														104			18		0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24492984	24492984	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:24492984C>T	uc003jgr.2	-	9	2072	c.1566G>A	c.(1564-1566)caG>caA	p.Q522Q	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	522	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AAAAAAATTTCTGTCCACCTA	0.323000										HNSCC(23;0.051)				164			34		0	0	1	0	0
EMB	133418	broad.mit.edu	37	5	49706744	49706744	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:49706744C>T	uc003jom.3	-	3	688	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K	EMB_uc003jol.3_Missense_Mutation_p.E78K|EMB_uc011cpy.2_Missense_Mutation_p.E97K	NM_198449	NP_940851	Q6PCB8	EMB_HUMAN	Homo sapiens embigin (EMB), mRNA.	147	Ig-like V-type 1.					integral to membrane				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				TGTTCCTTTTCCTCTCGAAAG	0.308000														26			6		0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	118974082	118974082	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:118974082G>A	uc004bjn.3	+	3	2170	c.1789G>A	c.(1789-1791)Gga>Aga	p.G597R	PAPPA_uc011lxp.1_Intron|PAPPA_uc011lxq.2_Intron	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	597					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CTTCGAGACTGGAGACCTCTG	0.547000														163			36		0	0	1	0	0
KIFAP3	22920	broad.mit.edu	37	1	170001039	170001039	+	Missense_Mutation	SNP	G	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:170001039G>T	uc001ggv.3	-	7	1100	c.829C>A	c.(829-831)Cag>Aag	p.Q277K	KIFAP3_uc021pep.1_Missense_Mutation_p.Q237K|KIFAP3_uc010ply.2_Missense_Mutation_p.Q199K|KIFAP3_uc001ggw.2_Missense_Mutation_p.Q233K	NM_014970	NP_001191446	Q92845	KIFA3_HUMAN	Homo sapiens kinesin-associated protein 3 (KIFAP3), transcript variant 1, mRNA.	277					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CGTAATAGCTGTTCCTGTTTT	0.348000														105			13		2.32078e-09	2.34068e-09	1	1	0
USF1	7391	broad.mit.edu	37	1	161010423	161010423	+	Silent	SNP	G	A	A	rs138288820		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:161010423G>A	uc001fxi.3	-	8	852	c.657C>T	c.(655-657)atC>atT	p.I219I	F11R_uc010pjw.2_5'Flank|F11R_uc001fxf.4_5'Flank|F11R_uc010pjx.2_5'Flank|F11R_uc009wtw.3_5'Flank|F11R_uc001fxh.4_5'Flank|USF1_uc001fxj.3_Silent_p.I160I	NM_007122	NP_996888	P22415	USF1_HUMAN	Homo sapiens upstream transcription factor 1 (USF1), transcript variant 1, mRNA.	219	Helix-loop-helix motif.				cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to UV|response to hypoxia	transcription factor complex	bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			AGAGCTGCACGATCCAGTTGT	0.542000														57			6		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216138719	216138719	+	Missense_Mutation	SNP	G	A	A	rs111033508	byFrequency	TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:216138719G>A	uc001hku.1	-	36	7447	c.7060C>T	c.(7060-7062)Cgc>Tgc	p.R2354C		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	2354	Fibronectin type-III 10.		R -> H (in USH2A).		maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.R2354H(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCATTAGGGCGAAAAGGTGCT	0.408000										HNSCC(13;0.011)				92			12		0	0	1	0	0
EFNB2	1948	broad.mit.edu	37	13	107145727	107145727	+	Silent	SNP	G	A	A	rs144052492	byFrequency	TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr13:107145727G>A	uc001vqi.3	-	4	739	c.663C>T	c.(661-663)ctC>ctT	p.L221L		NM_004093	NP_004084	P52799	EFNB2_HUMAN	Homo sapiens ephrin-B2 (EFNB2), mRNA.	221					cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					CTTCGGAACCGAGGATGTTGT	0.532000														121			26		0	0	1	0	0
CCDC146	57639	broad.mit.edu	37	7	76889522	76889522	+	Silent	SNP	A	C	C			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:76889522A>C	uc003uga.3	+	7	1082	c.955A>C	c.(955-957)Aga>Cga	p.R319R	CCDC146_uc010ldp.3_Silent_p.R65R	NM_020879	NP_065930	Q8IYE0	CC146_HUMAN	Homo sapiens coiled-coil domain containing 146 (CCDC146), mRNA.	319										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				GGAATTAGCCAGAGAGAATGA	0.308000														65			10		0	0	1	0	0
OR10A4	283297	broad.mit.edu	37	11	6897881	6897881	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:6897881G>A	uc010rat.2	+	0	26	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_207186	NP_997069	Q9H209	O10A4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 4 (OR10A4), mRNA.	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GCAGAAGAATGATGTGGGAAA	0.408000														92			25		0	0	1	0	0
ZNF256	10172	broad.mit.edu	37	19	58452839	58452839	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:58452839C>T	uc002qqu.3	-	2	1572	c.1337G>A	c.(1336-1338)aGg>aAg	p.R446K	ZNF256_uc010euj.3_Missense_Mutation_p.R293K	NM_005773	NP_005764	Q9Y2P7	ZN256_HUMAN	Homo sapiens zinc finger protein 256 (ZNF256), mRNA.	446					multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		GTCAAATTTCCTGCTAAATAA	0.383000														64			11		0	0	1	0	0
C7	730	broad.mit.edu	37	5	40972562	40972562	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:40972562C>T	uc003jmh.3	+	14	2054	c.1940C>T	c.(1939-1941)cCt>cTt	p.P647L	C7_uc011cpn.1_Non-coding_Transcript	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	647	Sushi 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				CCCCAAAAACCTTTCTACACA	0.453000														44			7		0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22159011	22159011	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:22159011G>A	uc009vqd.3	-	80	11227	c.11187C>T	c.(11185-11187)ctC>ctT	p.L3729L	HSPG2_uc001bfi.3_5'Flank|HSPG2_uc001bfj.3_Silent_p.L3728L	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	3728	Laminin G-like 1.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	TTCCCCCCACGAGGCCGAAGG	0.662000														97			23		0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117810784	117810784	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:117810784G>A	uc004bjj.4	-	15	5019	c.4607C>T	c.(4606-4608)aCc>aTc	p.T1536I	TNC_uc010mvf.3_Intron|TNC_uc022bmj.1_Intron	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	1536	Fibronectin type-III 11.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GTCGGAAATGGTTAGGTTTTC	0.493000														32			6		0	0	1	0	0
BC063132	0	broad.mit.edu	37	GL000241.1	25506	25506	+	RNA	SNP	A	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chrGL000241.1:25506A>T	uc011mgv.2	-	3		c.486T>A								Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors.																		CAGGGTAAAAAGACCATTGTT	0.418000														278			21		0	0	1	0	0
ZNF354B	117608	broad.mit.edu	37	5	178310557	178310557	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:178310557C>T	uc003mjl.3	+	4	1330	c.1104C>T	c.(1102-1104)tcC>tcT	p.S368S	ZNF354B_uc003mjm.3_Silent_p.S368S	NM_058230	NP_478137	Q96LW1	Z354B_HUMAN	Homo sapiens zinc finger protein 354B (ZNF354B), mRNA.	368					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTAGCTCATCCCTTCGTTATC	0.413000														53			11		0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146536847	146536847	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:146536847C>T	uc003weu.2	+	2	769	c.253C>T	c.(253-255)Ctt>Ttt	p.L85F		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	85	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TTATCAATGGCTTCAGGTTGA	0.468000										HNSCC(39;0.1)				81			13		0	0	1	0	0
CHRNA9	55584	broad.mit.edu	37	4	40356150	40356150	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:40356150C>T	uc003gva.1	+	4	1069	c.1053C>T	c.(1051-1053)gtC>gtT	p.V351V		NM_017581	NP_060051	Q9UGM1	ACHA9_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 9 (CHRNA9), mRNA.	351					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	TCTTGTTTGTCTATGATGTGG	0.547000														265			30		0	0	1	0	0
CYTIP	9595	broad.mit.edu	37	2	158287454	158287454	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:158287454C>T	uc002tzj.1	-	3	372	c.300G>A	c.(298-300)caG>caA	p.Q100Q	CYTIP_uc010zcl.1_5'UTR	NM_004288	NP_004279	O60759	CYTIP_HUMAN	Homo sapiens cytohesin 1 interacting protein (CYTIP), mRNA.	100	PDZ.				regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						AGCAGGCATTCTGATTCTGGG	0.373000														24			16		0	0	1	0	0
OR4X2	119764	broad.mit.edu	37	11	48267003	48267003	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:48267003G>A	uc001ngs.1	+	0	348	c.348G>A	c.(346-348)gtG>gtA	p.V116V		NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 2 (OR4X2), mRNA.	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						ACCACTATGTGGCCATCTGCA	0.507000														66			12		0	0	1	0	0
DUXA	503835	broad.mit.edu	37	19	57666650	57666650	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:57666650G>A	uc002qoa.1	-	4	574	c.529C>T	c.(529-531)Cct>Tct	p.P177S		NM_001012729	NP_001012747	A6NLW8	DUXA_HUMAN	Homo sapiens double homeobox A (DUXA), mRNA.	177						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)		AGTCCCTCAGGAATCTTGCCC	0.488000														45			9		0	0	1	0	0
NUDT22	84304	broad.mit.edu	37	11	63996739	63996739	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:63996739C>T	uc001nyp.4	+	3	780	c.600C>T	c.(598-600)acC>acT	p.T200T	NUDT22_uc009ype.3_Silent_p.T200T|NUDT22_uc001nyq.4_Silent_p.T167T|NUDT22_uc010rng.2_Non-coding_Transcript|AX747192_uc001nyr.1_3'UTR|DNAJC4_uc001nys.3_5'Flank|DNAJC4_uc001nyt.3_5'Flank|DNAJC4_uc001nyu.3_5'Flank	NM_032344	NP_115720	Q9BRQ3	NUD22_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 22 (NUDT22), transcript variant 1, mRNA.	200	Nudix hydrolase.						hydrolase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8						CGCTGCTCACCCTGAGCCAGC	0.617000														14			3		0	0	1	0	0
OR6V1	346517	broad.mit.edu	37	7	142750118	142750118	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:142750118C>T	uc011ksv.2	+	0	681	c.681C>T	c.(679-681)ccC>ccT	p.P227P		NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily V, member 1 (OR6V1), mRNA.	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					TGCGGATCCCCTCTGCCAGCA	0.537000														224			35		0	0	1	0	0
SLC6A11	6538	broad.mit.edu	37	3	10970962	10970962	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:10970962G>A	uc003bvz.3	+	9	1342	c.1308G>A	c.(1306-1308)cgG>cgA	p.R436R		NM_014229	NP_055044	P48066	S6A11_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 11 (SLC6A11), mRNA.	436					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		GTTACCGGCGGGAGCTGCTCA	0.562000														250			49		0	0	1	0	0
UBR1	197131	broad.mit.edu	37	15	43363110	43363110	+	Missense_Mutation	SNP	G	A	A	rs145854171		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:43363110G>A	uc001zqq.3	-	4	608	c.542C>T	c.(541-543)cCg>cTg	p.P181L	UBR1_uc010udk.1_Missense_Mutation_p.P181L	NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 1 (UBR1), mRNA.	181					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		TTCATTCAACGGACAGCGTGA	0.328000														59			18		0	0	1	0	0
DCAF5	8816	broad.mit.edu	37	14	69521190	69521190	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:69521190G>A	uc001xkp.3	-	8	2432	c.2213C>T	c.(2212-2214)cCt>cTt	p.P738L	DCAF5_uc001xkq.3_Missense_Mutation_p.P737L	NM_003861	NP_003852	Q96JK2	DCAF5_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 5 (DCAF5), nuclear gene encoding mitochondrial protein, mRNA.	738						CUL4 RING ubiquitin ligase complex				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						GGGAGTTCTAGGAGTCTCTTC	0.547000														97			16		0	0	1	0	0
NFKBIZ	64332	broad.mit.edu	37	3	101576282	101576282	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:101576282C>T	uc003dvp.3	+	10	2197	c.2082C>T	c.(2080-2082)ccC>ccT	p.P694P	NFKBIZ_uc003dvo.3_Silent_p.P594P|NFKBIZ_uc010hpo.3_Silent_p.P594P|NFKBIZ_uc003dvq.3_Silent_p.P572P	NM_031419	NP_001005474	Q9BYH8	IKBZ_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta (NFKBIZ), transcript variant 1, mRNA.	694	Interaction with NFKB1/p50 (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						ATTTGGTTCCCGATGGCCCTG	0.532000														56			16		0	0	1	0	0
MAP1S	55201	broad.mit.edu	37	19	17837489	17837489	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:17837489C>T	uc002nhe.1	+	4	1305	c.1296C>T	c.(1294-1296)ttC>ttT	p.F432F	MAP1S_uc010eaz.2_Silent_p.F45F|MAP1S_uc010xpv.1_Silent_p.F406F	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN	Homo sapiens microtubule-associated protein 1S (MAP1S), mRNA.	432	Necessary for the microtubule-organizing center localization.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	DNA binding|actin filament binding|beta-tubulin binding|microtubule binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						GCGTGCTGTTCCCCGGTTGCA	0.751000														8			3		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41076902	41076902	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr20:41076902C>T	uc002xkg.3	-	8	1702	c.1518G>A	c.(1516-1518)tgG>tgA	p.W506*	PTPRT_uc010ggj.3_Nonsense_Mutation_p.W506*	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	506	Fibronectin type-III 3.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGGGAGGTTTCCACTGGATGT	0.483000														130			34		0	0	1	0	0
OR10J3	441911	broad.mit.edu	37	1	159283697	159283697	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:159283697G>A	uc010piu.2	-	0	753	c.753C>T	c.(751-753)atC>atT	p.I251I		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA.	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					AGCCATAGTGGATGATGACCA	0.527000														35			10		0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516566	140516566	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:140516566C>T	uc003liq.3	+	0	1767	c.1550C>T	c.(1549-1551)tCg>tTg	p.S517L		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	517	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.S517S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCCTCAGGTCGCTGGACTAC	0.697000														162			30		0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31918727	31918727	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:31918727G>A	uc003tcm.2	-	3	768	c.307C>T	c.(307-309)Cga>Tga	p.R103*	PDE1C_uc003tcn.1_Nonsense_Mutation_p.R103*|PDE1C_uc003tco.2_Nonsense_Mutation_p.R163*|PDE1C_uc003tcr.3_Nonsense_Mutation_p.R103*|PDE1C_uc003tcs.3_Nonsense_Mutation_p.R103*	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	103					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			AGCCAGTCTCGGACCTCAGAA	0.552000														62			7		0	0	1	0	0
GUSB	2990	broad.mit.edu	37	7	65445369	65445369	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:65445369G>A	uc003tun.3	-	1	369	c.238C>T	c.(238-240)Ccc>Tcc	p.P80S	GUSB_uc011kdt.2_Missense_Mutation_p.P80S|GUSB_uc010kzw.2_5'UTR	NM_000181	NP_000172	P08236	BGLR_HUMAN	Homo sapiens glucuronidase, beta (GUSB), mRNA.	80					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						AAGCTGGAGGGAACTGGCATG	0.627000														38			7		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48411914	48411914	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:48411914C>T	uc003toq.2	+	32	10977	c.10953C>T	c.(10951-10953)ttC>ttT	p.F3651F	ABCA13_uc010kys.1_Silent_p.F725F|ABCA13_uc003tos.1_Silent_p.F477F	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	3651					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTATTGTTTTCCTCTTTCTCT	0.468000														158			14		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802855	185802855	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:185802855C>T	uc002uph.3	+	3	3326	c.2732C>T	c.(2731-2733)tCc>tTc	p.S911F		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	911						intracellular	zinc ion binding	p.S911Y(2)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TCAGATGTTTCCAATGATCCC	0.403000														42			37		0	0	1	0	0
GPR87	53836	broad.mit.edu	37	3	151012039	151012039	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:151012039C>T	uc003eyt.2	-	2	1356	c.995G>A	c.(994-996)aGa>aAa	p.R332K	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron	NM_023915	NP_076404	Q9BY21	GPR87_HUMAN	Homo sapiens G protein-coupled receptor 87 (GPR87), mRNA.	332						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ACTCCTGGTTCTGATATTTGA	0.363000														139			40		0	0	1	0	0
FLRT1	23769	broad.mit.edu	37	11	63884924	63884924	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:63884924G>A	uc021qks.1	+	0	1185	c.1185G>A	c.(1183-1185)acG>acA	p.T395T	MACROD1_uc001nyh.3_Intron|FLRT1_uc001nyi.1_Silent_p.T395T	NM_013280	NP_037412	Q9NZU1	FLRT1_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 1 (FLRT1), mRNA.	367					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						CCAAGACCACGGCCAGCAACC	0.642000														32			6		0	0	1	0	0
WNK3	65267	broad.mit.edu	37	X	54275963	54275963	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chrX:54275963C>T	uc004dtc.2	-	16	3257	c.2818G>A	c.(2818-2820)Gat>Aat	p.D940N	WNK3_uc004dtd.2_Missense_Mutation_p.D940N	NM_020922	NP_065973	Q9BYP7	WNK3_HUMAN	Homo sapiens WNK lysine deficient protein kinase 3 (WNK3), transcript variant 1, mRNA.	940					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TCAACCACATCCTTGTGTTCT	0.398000														57			30		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38739534	38739534	+	Missense_Mutation	SNP	T	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:38739534T>A	uc003ciq.3	-	26	5177	c.5177A>T	c.(5176-5178)aAt>aTt	p.N1726I		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1726					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)	CGTGGCCACATTGAAGTTCTC	0.502000														81			34		0	0	1	0	0
TAOK2	9344	broad.mit.edu	37	16	29997607	29997607	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:29997607C>T	uc010bzm.2	+	14	2070	c.2035C>T	c.(2035-2037)Cag>Tag	p.Q679*	BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.2_Nonsense_Mutation_p.Q672*|TAOK2_uc021tgf.1_Nonsense_Mutation_p.Q672*|TAOK2_uc002dva.2_Nonsense_Mutation_p.Q672*|TAOK2_uc002dvc.2_Nonsense_Mutation_p.Q672*|TAOK2_uc002dvd.2_Nonsense_Mutation_p.Q499*	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	Homo sapiens TAO kinase 2 (TAOK2), transcript variant 1, mRNA.	672					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GAAGCAGACCCAGAAGGACTT	0.647000														194			31		0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17051447	17051447	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:17051447C>T	uc011awc.2	+	2	681	c.585C>T	c.(583-585)ttC>ttT	p.F195F	PLCL2_uc010het.1_Silent_p.F77F|PLCL2_uc011awd.2_Silent_p.F77F	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.	203	PH.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						CAGACATATTCCGCAGCAATG	0.428000														120			25		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55539604	55539605	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:55539604_55539605GG>AA	uc003xsd.1	+	3	3310_3311	c.3162_3163GG>AA	c.(3160-3165)caggaa>caAAaa	p.E1055K	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1055					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTGTTTACCAGGAAATAAACCT	0.376000														71			14		0	0	1	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762176	130762176	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:130762176G>A	uc003qcb.3	+	1	2987	c.609G>A	c.(607-609)tcG>tcA	p.S203S	TMEM200A_uc003qca.3_Silent_p.S203S|TMEM200A_uc010kfh.3_Silent_p.S203S|TMEM200A_uc010kfi.3_Silent_p.S203S|TMEM200A_uc021zfg.1_Silent_p.S203S	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	Homo sapiens transmembrane protein 200A (TMEM200A), mRNA.	203						integral to membrane		p.A202S(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		CCTGTGCCTCGAGATTGGCAG	0.463000														34			6		0	0	1	0	0
PM20D1	148811	broad.mit.edu	37	1	205813319	205813319	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:205813319G>A	uc001hdj.3	-	4	679	c.603C>T	c.(601-603)atC>atT	p.I201I	PM20D1_uc009xbr.3_Non-coding_Transcript	NM_152491	NP_689704	Q6GTS8	P20D1_HUMAN	Homo sapiens peptidase M20 domain containing 1 (PM20D1), mRNA.	201						extracellular region	metal ion binding|peptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			GCAGGGCTGAGATCCTCTGAG	0.527000														135			18		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3241150	3241150	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chrX:3241150G>A	uc004crg.4	-	4	2733	c.2576C>T	c.(2575-2577)tCc>tTc	p.S859F		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	859						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GCTGGCTGAGGAAATGGTACC	0.488000														32			17		0	0	1	0	0
CCDC87	55231	broad.mit.edu	37	11	66359062	66359062	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:66359062G>A	uc001oiq.4	-	0	1493	c.1425C>T	c.(1423-1425)ccC>ccT	p.P475P	CCS_uc001oir.3_5'Flank	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN	Homo sapiens coiled-coil domain containing 87 (CCDC87), mRNA.	475										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CAATGGCTTTGGGATCCAGTT	0.478000														145			24		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140790067	140790067	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:140790067C>T	uc003lkj.2	+	0	2298	c.2298C>T	c.(2296-2298)ttC>ttT	p.F766F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lki.1_Silent_p.F766F|PCDHGC5_uc011day.2_5'Flank|PCDHGC5_uc003lkl.2_5'Flank	NM_018926	NP_061749	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 6 (PCDHGB6), transcript variant 1, mRNA.	789					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTTTAATTTCCTAAAATGCA	0.448000														63			14		0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138866	126138866	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:126138866G>A	uc001uhe.1	+	8	2855	c.2847G>A	c.(2845-2847)ggG>ggA	p.G949G	TMEM132B_uc001uhf.1_Silent_p.G461G	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	949						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TCTGGCTTGGGAATGAAGTGG	0.517000														65			16		0	0	1	0	0
FAM65C	140876	broad.mit.edu	37	20	49218838	49218838	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr20:49218838C>T	uc010zyt.2	-	12	1681	c.1430G>A	c.(1429-1431)gGa>gAa	p.G477E	FAM65C_uc010zyu.1_Non-coding_Transcript|FAM65C_uc002xvm.3_Missense_Mutation_p.G473E|FAM65C_uc002xvn.1_Missense_Mutation_p.G473E	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	Homo sapiens family with sequence similarity 65, member C (FAM65C), mRNA.	473										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCTCTCCCCTCCTAAGTTCCT	0.677000														37			4		0	0	1	0	0
DRD2	1813	broad.mit.edu	37	11	113283333	113283333	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:113283333C>T	uc001pnz.3	-	5	1404	c.1083G>A	c.(1081-1083)agG>agA	p.R361R	DRD2_uc010rwv.2_Silent_p.R360R|DRD2_uc001poa.4_Silent_p.R361R|DRD2_uc001pob.4_Silent_p.R332R	NM_000795	NP_000786	P14416	DRD2_HUMAN	Homo sapiens dopamine receptor D2 (DRD2), transcript variant 1, mRNA.	361	Interaction with PPP1R9B (By similarity).				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)	GGGAGAGCTTCCTACGGCTCA	0.567000														84			22		0	0	1	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37547025	37547025	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr20:37547025G>A	uc002xje.3	+	10	1609	c.1420G>A	c.(1420-1422)Gaa>Aaa	p.E474K	PPP1R16B_uc010ggc.3_Missense_Mutation_p.E432K	NM_015568	NP_056383	Q96T49	PP16B_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 16B (PPP1R16B), transcript variant 1, mRNA.	474					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding	p.K473Q(1)		biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				CAGCTACAAGGAACAGAGCCC	0.642000														87			13		0	0	1	0	0
PIGS	94005	broad.mit.edu	37	17	26881986	26881986	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:26881986C>T	uc002hbo.2	-	10	1648	c.1275G>A	c.(1273-1275)cgG>cgA	p.R425R	UNC119_uc002hbk.2_5'Flank|UNC119_uc002hbm.2_5'Flank|PIGS_uc002hbn.2_Silent_p.R417R|PIGS_uc010wap.1_Silent_p.R364R	NM_033198	NP_149975	Q96S52	PIGS_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class S (PIGS), mRNA.	425					C-terminal protein lipidation|attachment of GPI anchor to protein	GPI-anchor transamidase complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					CCCAGAGCAGCCGGTCTAGCT	0.582000														52			10		0	0	1	0	0
SUPT5H	6829	broad.mit.edu	37	19	39962101	39962101	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:39962101C>T	uc002olo.4	+	18	1961	c.1782C>T	c.(1780-1782)atC>atT	p.I594I	SUPT5H_uc002olp.4_Silent_p.I594I|SUPT5H_uc002olq.4_Silent_p.I590I|SUPT5H_uc002oln.4_Silent_p.I594I|SUPT5H_uc002olr.4_Silent_p.I594I|SUPT5H_uc002ols.1_Silent_p.I217I|SUPT5H_uc010egp.1_5'Flank	NM_001111020	NP_003160	O00267	SPT5H_HUMAN	Homo sapiens suppressor of Ty 5 homolog (S. cerevisiae) (SUPT5H), transcript variant 2, mRNA.	594	KOW 4.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGAACAACATCCATGTGAAAG	0.502000														87			24		0	0	1	0	0
STARD13	90627	broad.mit.edu	37	13	33700320	33700320	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr13:33700320G>A	uc001uuw.3	-	6	2106	c.1980C>T	c.(1978-1980)gtC>gtT	p.V660V	STARD13_uc001uuu.3_Silent_p.V652V|STARD13_uc001uuv.3_Silent_p.V542V|STARD13_uc001uux.3_Silent_p.V625V|STARD13_uc021rhz.1_Silent_p.V652V|STARD13_uc021ria.1_Silent_p.V542V	NM_178006	NP_443083	Q9Y3M8	STA13_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 13 (STARD13), transcript variant 1, mRNA.	660					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GAACGCCAAAGACAGCCTTGT	0.493000														167			36		0	0	1	0	0
C4orf22	255119	broad.mit.edu	37	4	81283950	81283950	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:81283950G>A	uc010ijp.3	+	1	203	c.154G>A	c.(154-156)Ggg>Agg	p.G52R	C4orf22_uc003hmf.3_Missense_Mutation_p.G52R	NM_001206997	NP_001193926	Q6V702	CD022_HUMAN	Homo sapiens chromosome 4 open reading frame 22 (C4orf22), transcript variant 1, mRNA.	52								p.G52E(1)		NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						AGGCTACCGAGGGACTGGAGA	0.458000														137			21		0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28710546	28710546	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr18:28710546C>T	uc002kwn.3	-	15	2878	c.2616G>A	c.(2614-2616)gaG>gaA	p.E872E	DSC1_uc002kwm.3_3'UTR|BC042382_uc002kwo.1_5'Flank	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	872					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			ACTCCAGTCCCTCTTCTTCCT	0.423000														89			18		0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32169252	32169252	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:32169252C>T	uc003obb.3	-	21	3920	c.3781G>A	c.(3781-3783)Gat>Aat	p.D1261N	NOTCH4_uc003oba.3_5'UTR|NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	1261					Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TGGAAGTGATCATGGCAGTAC	0.557000														97			14		0	0	1	0	0
CST9L	128821	broad.mit.edu	37	20	23545595	23545595	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr20:23545595C>T	uc002wtk.4	-	2	733	c.434G>A	c.(433-435)gGa>gAa	p.G145E		NM_080610	NP_542177	Q9H4G1	CST9L_HUMAN	Homo sapiens cystatin 9-like (CST9L), mRNA.	145						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8	Colorectal(13;0.0431)|Lung NSC(19;0.235)					TCAGTGGAATCCCTCCAAGCA	0.537000														103			30		0	0	1	0	0
OR4K14	122740	broad.mit.edu	37	14	20483196	20483196	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:20483196G>A	uc010tky.2	-	0	157	c.157C>T	c.(157-159)Ccc>Tcc	p.P53S		NM_001004712	NP_001004712	Q8NGD5	OR4KE_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 14 (OR4K14), mRNA.	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D52N(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TGCAGGCAGGGATCAGAAATT	0.448000														18			4		0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22204953	22204953	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:22204953G>A	uc009vqd.3	-	19	2633	c.2593C>T	c.(2593-2595)Cag>Tag	p.Q865*	HSPG2_uc001bfj.3_Nonsense_Mutation_p.Q864*	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	864	Laminin EGF-like 3.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CCGCCGGGCTGGATGGGGTTG	0.687000														21			4		0	0	1	0	0
OR4M2	390538	broad.mit.edu	37	15	22368968	22368968	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:22368968C>T	uc010tzu.2	+	0	491	c.393C>T	c.(391-393)caC>caT	p.H131H	abParts_uc001yuj.2_Intron|OR4N4_uc001yua.3_Non-coding_Transcript|OR4N4_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 2 (OR4M2), mRNA.	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GACCCCTCCACTATGCTACCA	0.507000														152			10		0	0	1	0	0
IFT80	57560	broad.mit.edu	37	3	160073835	160073835	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:160073835G>A	uc021xgr.1	-	6	789	c.743C>T	c.(742-744)tCg>tTg	p.S248L	IFT80_uc003fda.3_Non-coding_Transcript|IFT80_uc003fdb.2_Missense_Mutation_p.S111L|IFT80_uc021xgq.1_Missense_Mutation_p.S246L|IFT80_uc003fde.2_Missense_Mutation_p.S111L|IFT80_uc003fdd.2_5'UTR	NM_020800	NP_065851	Q9P2H3	IFT80_HUMAN	Homo sapiens intraflagellar transport 80 homolog (Chlamydomonas) (IFT80), transcript variant 1, mRNA.	248						cilium axoneme|microtubule basal body				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AGTATGAAACGATCCAACAGC	0.443000														111			21		0	0	1	0	0
GPLD1	2822	broad.mit.edu	37	6	24448181	24448181	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:24448181G>A	uc003ned.1	-	16	1713	c.1602C>T	c.(1600-1602)tcC>tcT	p.S534S	GPLD1_uc010jpr.1_Silent_p.S371S|GPLD1_uc010jps.1_Silent_p.S534S	NM_001503	NP_001494	P80108	PHLD_HUMAN	Homo sapiens glycosylphosphatidylinositol specific phospholipase D1 (GPLD1), transcript variant 1, mRNA.	534				VIGS -> MLGT (in Ref. 6; AA sequence).		extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						GTGCAAAAGGGGAGCCGATGA	0.532000														60			22		0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169494534	169494534	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:169494534G>A	uc003maf.3	+	44	4568	c.4488G>A	c.(4486-4488)gaG>gaA	p.E1496E	DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Silent_p.E988E|DOCK2_uc003mah.3_Silent_p.E52E	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	1496	DHR-2.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTCCTCTGGAGAATGCCATAG	0.423000														69			15		0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31039473	31039473	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:31039473G>A	uc002nsu.1	+	3	3085	c.2947G>A	c.(2947-2949)Gat>Aat	p.D983N	ZNF536_uc010edd.1_Missense_Mutation_p.D983N	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	983					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TGTGCGGCCAGATGCCGCCTC	0.577000														139			28		0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3329112	3329112	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:3329112C>T	uc001akf.3	+	8	2433	c.2351C>T	c.(2350-2352)cCc>cTc	p.P784L	PRDM16_uc001ake.3_Missense_Mutation_p.P784L|PRDM16_uc009vlh.3_Missense_Mutation_p.P485L|PRDM16_uc001akc.3_Missense_Mutation_p.P784L	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.	784	Interaction with CTBP1 and CTBP2 (By similarity).|Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GACGTGAAGCCCATCCTGCCC	0.697000			T	EVI1	"""MDS, AML"""									52			6		0	0	1	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47351161	47351161	+	RNA	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:47351161G>A	uc001cqo.1	-	3		c.500C>T			CYP4Z2P_uc009vyn.1_Non-coding_Transcript					Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 2 pseudogene (CYP4Z2P), non-coding RNA.																		ACATCATGGTGATGAATATTT	0.483000														34			4		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82580167	82580167	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:82580167C>T	uc003uhx.2	-	5	10026	c.9737G>A	c.(9736-9738)cGa>cAa	p.R3246Q	PCLO_uc003uhv.2_Missense_Mutation_p.R3246Q|PCLO_uc010lec.3_Missense_Mutation_p.R211Q	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3177	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.R3246L(3)|p.R3246R(1)|p.R3177L(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTCTTGTTCTCGGAACCTTTG	0.473000														80			6		0	0	1	0	0
LOC642846	642846	broad.mit.edu	37	12	9453800	9453800	+	RNA	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:9453800C>T	uc001qvp.2	+	0		c.111C>T			LOC642846_uc010sgp.1_Non-coding_Transcript					Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11-like (LOC642846), non-coding RNA.																		ACCTGATCGACACCATCACGG	0.667000														105			12		0	0	1	0	0
SEC14L3	266629	broad.mit.edu	37	22	30864540	30864540	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr22:30864540C>T	uc003ahy.3	-	4	467	c.378G>A	c.(376-378)agG>agA	p.R126R	SEC14L3_uc003ahz.3_Silent_p.R49R|SEC14L3_uc003aia.3_Silent_p.R67R|SEC14L3_uc003aib.3_Silent_p.R67R	NM_174975	NP_777635	Q9UDX4	S14L3_HUMAN	Homo sapiens SEC14-like 3 (S. cerevisiae) (SEC14L3), mRNA.	126	CRAL-TRIO.					integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	GCTCACAGTCCCTCATCTTGG	0.612000														122			26		0	0	1	0	0
DPP8	54878	broad.mit.edu	37	15	65772707	65772707	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:65772707C>T	uc002aov.3	-	9	2775	c.1197G>A	c.(1195-1197)caG>caA	p.Q399Q	DPP8_uc002aow.3_Silent_p.Q399Q|DPP8_uc010uiv.2_Non-coding_Transcript|DPP8_uc021soz.1_Silent_p.Q383Q|DPP8_uc002aox.3_Silent_p.Q383Q|DPP8_uc002aoy.3_Silent_p.Q399Q|DPP8_uc002aoz.3_Silent_p.Q383Q|DPP8_uc010bhj.3_Silent_p.Q399Q|DPP8_uc010bhk.1_Intron	NM_130434	NP_569118	Q6V1X1	DPP8_HUMAN	Homo sapiens dipeptidyl-peptidase 8 (DPP8), transcript variant 1, mRNA.	399					immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GTAGGCGAGTCTGGGAGCGAT	0.383000														43			7		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106805666	106805666	+	Splice_Site	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:106805666G>A	uc021ser.1	-	583		c.16288_splice	c.e583-1		abParts_uc001ysw.1_5'Flank					Parts of antibodies, mostly variable regions.																		GGAGGTCCAGGACTCTCAGAA	0.498000														59			5		0	0	1	0	0
ZNF419	79744	broad.mit.edu	37	19	58005429	58005429	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:58005429C>T	uc010ety.1	+	4	1747	c.1507C>T	c.(1507-1509)Cga>Tga	p.R503*	ZNF419_uc002qov.2_Nonsense_Mutation_p.R502*|ZNF419_uc010etz.1_Nonsense_Mutation_p.R490*|ZNF419_uc002qow.2_Nonsense_Mutation_p.R470*|ZNF419_uc010eua.1_Nonsense_Mutation_p.R489*|ZNF419_uc010eub.1_Nonsense_Mutation_p.R457*|ZNF419_uc010euc.1_Nonsense_Mutation_p.R456*	NM_001098491	NP_001091961	Q96HQ0	ZN419_HUMAN	Homo sapiens zinc finger protein 419 (ZNF419), transcript variant 1, mRNA.	502					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R470*(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		TTTTAAACATCGAAGGATTCA	0.428000														77			16		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	8999056	8999056	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:8999056G>A	uc002mkp.3	-	56	40992	c.40788C>T	c.(40786-40788)ttC>ttT	p.F13596F	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Silent_p.F413F|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13598				Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.F281F(1)|p.F13596F(1)		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						TCCGCTGTGTGAAACCTGCAT	0.537000														40			11		0	0	1	0	0
OR1F2P	26184	broad.mit.edu	37	16	3266305	3266305	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:3266305G>A	uc010uwv.2	+	0	744	c.596G>A	c.(595-597)gGa>gAa	p.G199E						Homo sapiens olfactory receptor, family 1, subfamily F, member 2 (OR1F2P), non-coding RNA.																		TCCACAAAGGGAAGATGGAAA	0.527000														69			11		0	0	1	0	0
DYRK1B	9149	broad.mit.edu	37	19	40316606	40316606	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:40316606G>A	uc002omj.3	-	10	1919	c.1639C>T	c.(1639-1641)Cga>Tga	p.R547*	DYRK1B_uc002omi.3_Nonsense_Mutation_p.R519*|DYRK1B_uc002omk.3_Nonsense_Mutation_p.R507*	NM_004714	NP_004705	Q9Y463	DYR1B_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B (DYRK1B), transcript variant a, mRNA.	547					positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			CCAAGGTATCGGGGCTGGGGG	0.687000														85			23		0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33329490	33329491	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr20:33329490_33329491CC>TT	uc002xav.3	-	11	7140_7141	c.4569_4570GG>AA	c.(4567-4572)gaggac>gaAAac	p.D1524N	NCOA6_uc002xaw.3_Missense_Mutation_p.D1524N|NCOA6_uc021wcd.1_Intron|NCOA6_uc021wce.1_Missense_Mutation_p.D1524N|NCOA6_uc021wcf.1_Intron	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	1524					DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TTTTTGAGGTCCTCCCCAGAAA	0.446000														56			9		0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150443549	150443549	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:150443549C>T	uc009wlr.3	+	10	2326	c.2125C>T	c.(2125-2127)Cag>Tag	p.Q709*	RPRD2_uc010pcc.1_Nonsense_Mutation_p.Q683*|RPRD2_uc001eup.4_Nonsense_Mutation_p.Q683*	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Homo sapiens regulation of nuclear pre-mRNA domain containing 2 (RPRD2), mRNA.	709	Ser-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CTCAGACTTCCAGCGTGGCCC	0.527000														53			10		0	0	1	0	0
SHB	6461	broad.mit.edu	37	9	37955927	37955927	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:37955927C>T	uc004aax.3	-	3	1747	c.1179G>A	c.(1177-1179)ggG>ggA	p.G393G		NM_003028	NP_003019	Q15464	SHB_HUMAN	Homo sapiens Src homology 2 domain containing adaptor protein B (SHB), mRNA.	393	Mediates interaction with LAT, FAK1, JAK1 and JAK3.				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		CTCCTAGGATCCCGCAGAACT	0.592000														28			3		0	0	1	0	0
TCL1B	9623	broad.mit.edu	37	14	96157189	96157189	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:96157189G>A	uc001yfa.3	+	1	330	c.279G>A	c.(277-279)ggG>ggA	p.G93G	TCL1B_uc021sbi.1_Non-coding_Transcript|TCL1B_uc001yew.3_Non-coding_Transcript|TCL1B_uc001yex.3_Non-coding_Transcript|TCL1B_uc010avj.3_Non-coding_Transcript|TCL1B_uc001yez.3_Silent_p.G93G	NM_004918	NP_004909	O95988	TCL1B_HUMAN	Homo sapiens T-cell leukemia/lymphoma 1B (TCL1B), transcript variant 1, mRNA.	93			G -> R (in dbSNP:rs1064017).					p.P92P(1)		cervix(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		TCTACCCCGGGAGGAAGTACC	0.612000														89			18		0	0	1	0	0
TXNIP	10628	broad.mit.edu	37	1	145438936	145438936	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:145438936G>A	uc001enn.4	+	0	475	c.134G>A	c.(133-135)aGg>aAg	p.R45K	TXNIP_uc010oys.2_5'Flank	NM_006472	NP_006463	Q9H3M7	TXNIP_HUMAN	Homo sapiens thioredoxin interacting protein (TXNIP), mRNA.	45					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AAAGCCGTTAGGATCCTGGCT	0.542000														57			11		0	0	1	0	0
FAM127B	26071	broad.mit.edu	37	X	134185923	134185923	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chrX:134185923G>A	uc004eyf.3	-	0	299	c.216C>T	c.(214-216)ctC>ctT	p.L72L	FAM127B_uc004eyg.4_Intron	NM_001078172	NP_001071640	Q9BWD3	F127B_HUMAN	Homo sapiens family with sequence similarity 127, member B (FAM127B), transcript variant 1, mRNA.	72										breast(3)|endometrium(2)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;0.000127)					CTGGCCCCGTGAGGCGGGTGA	0.602000														46			20		0	0	1	0	0
WDR85	92715	broad.mit.edu	37	9	140469207	140469207	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:140469207C>T	uc004cnk.1	-	3	622	c.464G>A	c.(463-465)gGa>gAa	p.G155E	WDR85_uc004cnm.1_5'UTR|WDR85_uc022bqk.1_Non-coding_Transcript	NM_138778	NP_620133	Q9BTV6	WDR85_HUMAN	Homo sapiens WD repeat domain 85 (WDR85), mRNA.	155					peptidyl-diphthamide biosynthetic process from peptidyl-histidine					breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)	8	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.00029)|Epithelial(140;0.000509)		CCCTTACCTTCCAGTTTTCCC	0.567000														263			49		0	0	1	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111643179	111643179	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:111643179C>T	uc003kpv.1	-	1	382	c.108G>A	c.(106-108)acG>acA	p.T36T	EPB41L4A_uc003kpw.1_Silent_p.T36T	NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4A (EPB41L4A), mRNA.	36	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		CGGAACCTTTCGTTGACTTCT	0.383000														25			9		0	0	1	0	0
SETX	23064	broad.mit.edu	37	9	135206523	135206524	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:135206523_135206524GG>AA	uc004cbk.3	-	8	1196_1197	c.1013_1014CC>TT	c.(1012-1014)acc>aTT	p.T338I	SETX_uc004cbj.3_5'Flank|SETX_uc010mzt.3_5'Flank	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	Homo sapiens senataxin (SETX), mRNA.	338					RNA processing|cell death|double-strand break repair	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		GTTCTAACTTGGTCCTTAAATA	0.342000														42			9		0	0	1	0	0
CLEC2L	154790	broad.mit.edu	37	7	139226793	139226793	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:139226793G>A	uc010lnd.3	+	3	459	c.459G>A	c.(457-459)agG>agA	p.R153R		NM_001080511	NP_001073980	P0C7M8	CLC2L_HUMAN	Homo sapiens C-type lectin domain family 2, member L (CLEC2L), mRNA.	153	C-type lectin.					integral to membrane	sugar binding			NS(1)|endometrium(1)|kidney(2)|lung(1)	5	Melanoma(164;0.233)					TCACGCGGAGGGAGCCCTGGA	0.552000														35			4		0	0	1	0	0
CHD2	1106	broad.mit.edu	37	15	93557990	93557990	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:93557990C>T	uc002bsp.3	+	36	5332	c.4757C>T	c.(4756-4758)tCc>tTc	p.S1586F	CHD2_uc002bso.1_Missense_Mutation_p.S1586F	NM_001271	NP_001262	O14647	CHD2_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 2 (CHD2), transcript variant 1, mRNA.	1586					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GCCTCAGGCTCCAGCCGGGAC	0.512000														113			25		0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56468790	56468790	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:56468790C>T	uc021wzo.1	-	0	386	c.246G>A	c.(244-246)ctG>ctA	p.L82L	ERC2_uc003dhr.1_Silent_p.L82L	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	82						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TAGCCCTTCCCAGAGTCATAG	0.512000														168			23		0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130292941	130292941	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:130292941G>A	uc010htl.3	+	6	3150	c.3119G>A	c.(3118-3120)gGa>gAa	p.G1040E		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	1040	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GTGCGAATAGGAGCGGCCCAG	0.423000														18			6		0	0	1	0	0
GBP5	115362	broad.mit.edu	37	1	89730439	89730439	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:89730439C>T	uc001dnc.3	-	7	1616	c.1079G>A	c.(1078-1080)aGg>aAg	p.R360K	GBP5_uc001dnd.3_Missense_Mutation_p.R360K|GBP5_uc001dne.1_Missense_Mutation_p.R360K	NM_052942	NP_443174	Q96PP8	GBP5_HUMAN	Homo sapiens guanylate binding protein 5 (GBP5), transcript variant 1, mRNA.	360						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		AATGGCCTCCCTCTCACTGGT	0.478000														70			11		0	0	1	0	0
OR14J1	442191	broad.mit.edu	37	6	29274703	29274703	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:29274703C>T	uc011dln.2	+	0	237	c.237C>T	c.(235-237)tcC>tcT	p.S79S		NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily J, member 1 (OR14J1), mRNA.	79					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						TCCCCCAGTCCATTGCAAATT	0.463000														189			44		0	0	1	0	0
SLC8A2	6543	broad.mit.edu	37	19	47969382	47969382	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:47969382G>A	uc010ele.3	-	0	295	c.279C>T	c.(277-279)ttC>ttT	p.F93F	SLC8A2_uc002pgx.3_Silent_p.F93F|SLC8A2_uc010xyq.2_Intron|SLC8A2_uc010xyr.2_Intron			Q9UPR5	NAC2_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 2 (SLC8A2), mRNA.	93					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		TGGCCGCCATGAAACGGTCGG	0.582000														103			20		0	0	1	0	0
PENK	5179	broad.mit.edu	37	8	57354053	57354053	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:57354053C>T	uc003xsz.2	-	1	663	c.582G>A	c.(580-582)aaG>aaA	p.K194K	PENK_uc003xta.3_Silent_p.K194K	NM_006211	NP_006202	P01210	PENK_HUMAN	Homo sapiens proenkephalin (PENK), transcript variant 2, mRNA.	194					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			GGGGGCTTCTCTTTAAGCCTC	0.527000														104			18		0	0	1	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7671229	7671229	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:7671229C>T	uc002mgu.4	+	2	576	c.475C>T	c.(475-477)Ccc>Tcc	p.P159S	CAMSAP3_uc002mgv.4_Missense_Mutation_p.P159S	NM_001080429	NP_001073898	Q9P1Y5	CAMP3_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 3 (CAMSAP3), transcript variant 1, mRNA.	159					epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CCTGCCAGGTCCCTTGGCCCT	0.622000														118			20		0	0	1	0	0
CTNNBL1	56259	broad.mit.edu	37	20	36386000	36386000	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr20:36386000C>G	uc021wdj.1	+	4	597	c.506C>G	c.(505-507)aCa>aGa	p.T169R	CTNNBL1_uc002xhh.3_Intron|CTNNBL1_uc002xhi.3_Non-coding_Transcript	NM_030877	NP_110517	Q8WYA6	CTBL1_HUMAN	Homo sapiens catenin, beta like 1 (CTNNBL1), mRNA.	169					apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				CAGGAATTAACAGATATAGAC	0.418000														50			8		0	0	1	0	0
PPP6C	5537	broad.mit.edu	37	9	127933372	127933372	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:127933372G>A	uc010mwv.3	-	2	495	c.274C>T	c.(274-276)Cat>Tat	p.H92Y	PPP6C_uc004bpg.4_Missense_Mutation_p.H55Y|PPP6C_uc010mww.3_Missense_Mutation_p.H55Y|PPP6C_uc011lzr.2_5'UTR	NM_001123355	NP_001116827	O00743	PPP6_HUMAN	Homo sapiens protein phosphatase 6, catalytic subunit (PPP6C), transcript variant 1, mRNA.	55					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity			NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						ACCTGTCCATGGATATCTCCA	0.378000														180			38		0	0	1	0	0
CCDC30	728621	broad.mit.edu	37	1	43102988	43102988	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:43102988G>A	uc009vwk.1	+	10	1687	c.1577G>A	c.(1576-1578)cGa>cAa	p.R526Q	CCDC30_uc001chm.2_Missense_Mutation_p.R224Q|CCDC30_uc001chn.2_Missense_Mutation_p.R315Q	NM_001080850	NP_001074319	Q5VVM6	CCD30_HUMAN	Homo sapiens coiled-coil domain containing 30 (CCDC30), mRNA.	526								p.R526*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						GTAGAACTACGAGATAAGAGA	0.303000														36			7		0	0	1	0	0
LGALS16	148003	broad.mit.edu	37	19	40151153	40151153	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:40151153G>A	uc021uun.1	+	3	466	c.422G>A	c.(421-423)cGg>cAg	p.R141Q		NM_001190441	NP_001177370	A8MUM7	A8MUM7_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 16 (LGALS16), mRNA.	141							sugar binding										AACAATGGACGGAGATGATCA	0.473000														6			4		0	0	1	0	0
ZNF780A	284323	broad.mit.edu	37	19	40589045	40589045	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:40589045C>T	uc010xvh.2	-	3	257	c.109G>A	c.(109-111)Gag>Aag	p.E37K	ZNF780A_uc002omw.4_Missense_Mutation_p.E53K|ZNF780A_uc002omy.3_Missense_Mutation_p.E37K|ZNF780A_uc002omz.3_Missense_Mutation_p.E37K	NM_001142577	NP_001136049	O75290	Z780A_HUMAN	Homo sapiens zinc finger protein 780A (ZNF780A), transcript variant 1, mRNA.	37	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CTGTAGTTCTCCAACATCACA	0.478000														148			21		0	0	1	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29908156	29908156	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:29908156C>T	uc010vec.2	-	2	743	c.498G>A	c.(496-498)acG>acA	p.T166T	BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_Silent_p.T96T|SEZ6L2_uc002dur.4_Silent_p.T96T|SEZ6L2_uc002duq.4_Silent_p.T166T|SEZ6L2_uc010ved.2_Silent_p.T122T|SEZ6L2_uc002dus.4_Silent_p.T166T	NM_001243332	NP_001230261	Q6UXD5	SE6L2_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like 2 (SEZ6L2), transcript variant 5, mRNA.	166	Thr-rich.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGCTGGTCACCGTAGTGGTAA	0.657000														127			38		0	0	1	0	0
MEAF6	64769	broad.mit.edu	37	1	37980287	37980288	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:37980287_37980288CC>TT	uc001cbe.1	-	0	77_78	c.60_61GG>AA	c.(58-63)gcggag>gcAAag	p.E21K	MEAF6_uc001cbd.1_5'Flank|MEAF6_uc009vvd.1_Non-coding_Transcript|MEAF6_uc001cbg.1_Missense_Mutation_p.E21K|MEAF6_uc001cbh.1_Missense_Mutation_p.E21K	NM_022756	NP_073593	Q9HAF1	EAF6_HUMAN	Homo sapiens MYST/Esa1-associated factor 6 (MEAF6), mRNA.	21					histone H2A acetylation|histone H3-K14 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|NuA4 histone acetyltransferase complex|nucleolus	protein binding			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(3)	7						TTCACGAGCTCCGCCAGCTCCC	0.757000														19			3		0	0	1	0	0
IL36B	27177	broad.mit.edu	37	2	113786542	113786542	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:113786542G>A	uc002tiq.1	-	3	339	c.235C>T	c.(235-237)Cag>Tag	p.Q79*	IL36B_uc002tir.1_Nonsense_Mutation_p.Q79*	NM_014438	NP_055253	Q9NZH7	IL36B_HUMAN	Homo sapiens interleukin 36, beta (IL36B), transcript variant 1, mRNA.	79					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			kidney(1)|ovary(1)|pancreas(1)	3						GGCTTGCCCTGAATTTCTGCA	0.398000														62			41		0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1261718	1261718	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:1261718C>T	uc002cks.3	+	23	4727	c.4479C>T	c.(4477-4479)gcC>gcT	p.A1493A	CACNA1H_uc002ckt.3_Silent_p.A1493A|CACNA1H_uc002cku.3_Silent_p.A199A|CACNA1H_uc010brj.3_Silent_p.A199A|CACNA1H_uc002ckv.3_Silent_p.A199A	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	1493					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GCCCTCAGGCCCTGATGTCGC	0.672000														74			9		0	0	1	0	0
ZNF431	170959	broad.mit.edu	37	19	21366594	21366594	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:21366594C>T	uc010ecr.2	+	4	1638	c.1491C>T	c.(1489-1491)tcC>tcT	p.S497S	ZNF431_uc002npp.2_Silent_p.S496S|ZNF431_uc010ecq.2_Silent_p.S405S	NM_133473	NP_597730	Q8TF32	ZN431_HUMAN	Homo sapiens zinc finger protein 431 (ZNF431), mRNA.	496					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						TTAACCGATCCTCAAATCTTA	0.353000														49			11		0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39816481	39816481	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:39816481C>T	uc021olw.1	+	6	6310	c.6310C>T	c.(6310-6312)Cgt>Tgt	p.R2104C	MACF1_uc021ols.1_Missense_Mutation_p.R1602C|MACF1_uc001cdc.2_Missense_Mutation_p.R1602C|MACF1_uc021olt.1_Missense_Mutation_p.R1602C|MACF1_uc001cda.1_Missense_Mutation_p.R1510C|MACF1_uc001cdb.1_Missense_Mutation_p.R689C	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	3669					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CATTCAGAATCGTGCCACCTC	0.443000														53			6		0	0	1	0	0
C8A	731	broad.mit.edu	37	1	57347158	57347158	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:57347158G>A	uc001cyo.2	+	4	637	c.505G>A	c.(505-507)Gat>Aat	p.D169N		NM_000562	NP_000553	P07357	CO8A_HUMAN	Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.	169	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GAGTGTGTACGATGCCAGTTA	0.473000														64			12		0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111155755	111155756	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chrX:111155755_111155756GG>AA	uc004epl.1	-	2	1582_1583	c.663_664CC>TT	c.(661-666)ttccgt>ttTTgt	p.R222C	TRPC5_uc004epm.1_Missense_Mutation_p.R222C	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.	222					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	p.R222H(1)		biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CAGCCCAGACGGAAGGCAGTTA	0.554000														122			39		0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73850087	73850087	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:73850087T>C	uc003xzb.3	+	2	3085	c.2497T>C	c.(2497-2499)Tgc>Cgc	p.C833R		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	833					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.C833C(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CAGCCCAAATTGCTTTGCAGA	0.532000														72			22		0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150164198	150164198	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:150164198G>A	uc003whj.3	+	1	742	c.412G>A	c.(412-414)Gat>Aat	p.D138N		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	138						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TCGGAAGGATGATTTGGGGGA	0.448000														63			8		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8633356	8633356	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:8633356C>T	uc003zkk.3	-	13	1056	c.313G>A	c.(313-315)Gga>Aga	p.G105R	PTPRD_uc003zkp.3_Missense_Mutation_p.G105R|PTPRD_uc003zkq.3_Missense_Mutation_p.G105R|PTPRD_uc003zkr.3_Missense_Mutation_p.G105R|PTPRD_uc003zks.3_Missense_Mutation_p.G105R|PTPRD_uc022bdj.1_Missense_Mutation_p.G105R|PTPRD_uc003zkt.1_Missense_Mutation_p.G105R	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	105	Ig-like C2-type 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CTTATTTCTCCCACATTATTT	0.428000										TSP Lung(15;0.13)				62			11		0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100733174	100733174	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:100733174C>T	uc003yiv.3	+	38	7135	c.7024C>T	c.(7024-7026)Cca>Tca	p.P2342S	VPS13B_uc003yiw.3_Missense_Mutation_p.P2317S	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	2342					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)			ATGGAGATATCCAGAACCTAG	0.393000														49			11		0	0	1	0	0
GRXCR2	643226	broad.mit.edu	37	5	145239319	145239319	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:145239319G>A	uc003lns.1	-	2	724	c.724C>T	c.(724-726)Cct>Tct	p.P242S		NM_001080516	NP_001073985	A6NFK2	GRCR2_HUMAN	Homo sapiens glutaredoxin, cysteine rich 2 (GRXCR2), mRNA.	242										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						ATCTGGCAAGGCTGTAGGCCA	0.517000														79			29		0	0	1	0	0
SNED1	25992	broad.mit.edu	37	2	241976319	241976319	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:241976319G>A	uc002wah.1	+	4	918	c.918G>A	c.(916-918)cgG>cgA	p.R306R		NM_001080437	NP_001073906	Q8TER0	SNED1_HUMAN	Homo sapiens sushi, nidogen and EGF-like domains 1 (SNED1), mRNA.	306	EGF-like 1.				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		TCACGGGGCGGAGGTGCCACC	0.716000														13			3		0	0	1	0	0
PIP4K2C	79837	broad.mit.edu	37	12	57987836	57987836	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:57987836C>T	uc001sou.3	+	1	334	c.203C>T	c.(202-204)cCg>cTg	p.P68L	PIP4K2C_uc001sot.3_Missense_Mutation_p.P68L|PIP4K2C_uc010srs.2_Missense_Mutation_p.P68L|PIP4K2C_uc010srt.2_Missense_Mutation_p.P68L	NM_001146258	NP_079055	Q8TBX8	PI42C_HUMAN	Homo sapiens phosphatidylinositol-5-phosphate 4-kinase, type II, gamma (PIP4K2C), transcript variant 2, mRNA.	68	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					GTGCCTCCCCCGGTGATGCTG	0.502000														64			17		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33895503	33895503	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:33895503G>A	uc001zhi.3	+	17	2172	c.2102G>A	c.(2101-2103)gGa>gAa	p.G701E	RYR3_uc010bar.3_Missense_Mutation_p.G701E	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	701	B30.2/SPRY 1.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GAAGGATGGGGAGGCAATGGT	0.547000														172			41		0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	55107561	55107561	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:55107561C>T	uc003dhf.3	+	35	3125	c.3077C>T	c.(3076-3078)aCc>aTc	p.T1026I	CACNA2D3_uc003dhg.1_Missense_Mutation_p.T932I|CACNA2D3_uc003dhh.1_Non-coding_Transcript	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	1026						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		GCCCCCATCACCATGGCACCC	0.522000														57			18		0	0	1	0	0
ACOX1	51	broad.mit.edu	37	17	73949623	73949623	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:73949623G>A	uc002jqe.3	-	6	1214	c.853C>T	c.(853-855)Ctt>Ttt	p.L285F	ACOX1_uc010wsq.2_Missense_Mutation_p.L247F|ACOX1_uc010wsr.2_Missense_Mutation_p.L217F|ACOX1_uc002jqf.3_Missense_Mutation_p.L285F	NM_004035	NP_001171968	Q15067	ACOX1_HUMAN	Homo sapiens acyl-CoA oxidase 1, palmitoyl (ACOX1), transcript variant 1, mRNA.	285					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14						TCTCCCACAAGGAAGGACCTG	0.532000														57			16		0	0	1	0	0
SGCA	6442	broad.mit.edu	37	17	48244987	48244987	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:48244987G>A	uc002iqi.3	+	2	238	c.202G>A	c.(202-204)Gga>Aga	p.G68R	SGCA_uc010wmh.1_Intron|SGCA_uc002iqj.3_Missense_Mutation_p.G68R|SGCA_uc010wmi.2_Non-coding_Transcript	NM_000023	NP_000014	Q16586	SGCA_HUMAN	Homo sapiens sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) (SGCA), transcript variant 1, mRNA.	68			G -> E (in LGMD2D).		muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding	p.G68E(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						CCACCTCCAGGGACACCCAGA	0.672000														91			22		0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155157181	155157181	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:155157181C>T	uc003inw.2	-	24	7258	c.7258G>A	c.(7258-7260)Gaa>Aaa	p.E2420K		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	2420	Cadherin 21.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GGCTCAAATTCATCTATCCCT	0.428000														49			13		0	0	1	0	0
ST8SIA4	7903	broad.mit.edu	37	5	100147705	100147705	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:100147705C>T	uc003knk.3	-	4	1254	c.926G>A	c.(925-927)gGa>gAa	p.G309E		NM_005668	NP_005659	Q92187	SIA8D_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 (ST8SIA4), transcript variant 1, mRNA.	309					N-glycan processing|axon guidance	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		GACCGCTTTTCCATTTAAATC	0.368000														27			10		0	0	1	0	0
MBOAT2	129642	broad.mit.edu	37	2	9002816	9002816	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:9002816G>A	uc002qzg.1	-	10	1222	c.1089C>T	c.(1087-1089)atC>atT	p.I363I	MBOAT2_uc010yix.1_Silent_p.I363I	NM_138799	NP_620154	Q6ZWT7	MBOA2_HUMAN	Homo sapiens membrane bound O-acyltransferase domain containing 2 (MBOAT2), mRNA.	363					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity		MBOAT2/PRKCE(2)	endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TGAACGTCTGGATAGTTGGAC	0.453000														55			6		0	0	1	0	0
UTP20	27340	broad.mit.edu	37	12	101777418	101777419	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:101777418_101777419GG>AA	uc001tia.1	+	59	8183_8184	c.8027_8028GG>AA	c.(8026-8028)cgg>cAA	p.R2676Q		NM_014503	NP_055318	O75691	UTP20_HUMAN	Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA.	2676					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						CCTTTGTTTCGGGAACTCAACA	0.465000														124			23		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1262886	1262886	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:1262886G>A	uc001lta.3	+	30	4835	c.4776G>A	c.(4774-4776)agG>agA	p.R1592R		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	1592	7 X Cys-rich subdomain repeats.				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)		ACAACTACAGGATCCGGGTCC	0.637000														19			5		0	0	1	0	0
LZTR1	8216	broad.mit.edu	37	22	21350394	21350394	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr22:21350394G>A	uc002zto.3	+	17	2315	c.2212G>A	c.(2212-2214)Gac>Aac	p.D738N	LZTR1_uc002ztn.3_Missense_Mutation_p.D697N|LZTR1_uc011ahy.2_Missense_Mutation_p.D719N	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA.	738					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GCCGCCCGAGGACTCGCTGCA	0.642000														86			16		0	0	1	0	0
LMX1A	4009	broad.mit.edu	37	1	165183001	165183001	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:165183001C>T	uc001gcz.2	-	4	740	c.546G>A	c.(544-546)ggG>ggA	p.G182G	LMX1A_uc021pdz.1_Silent_p.G182G|LMX1A_uc021pdy.1_5'Flank|LMX1A_uc001gcw.2_5'Flank	NM_001174069	NP_796372	Q8TE12	LMX1A_HUMAN	Homo sapiens LIM homeobox transcription factor 1, alpha (LMX1A), transcript variant 4, mRNA.	182						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CAGTTCCTTTCCCTGCCCCAT	0.493000														113			16		0	0	1	0	0
AKAP13	11214	broad.mit.edu	37	15	86124839	86124839	+	Missense_Mutation	SNP	C	G	G	rs145657332		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:86124839C>G	uc002blv.1	+	6	3710	c.3540C>G	c.(3538-3540)gaC>gaG	p.D1180E	AKAP13_uc002blt.1_Missense_Mutation_p.D1180E|AKAP13_uc002blu.1_Missense_Mutation_p.D1180E|AKAP13_uc010bne.1_5'Flank	NM_007200	NP_009131	Q12802	AKP13_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.	1180					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	Rho guanyl-nucleotide exchange factor activity|cAMP-dependent protein kinase activity|metal ion binding|protein binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CCCAAATAGACGATGAAGCAC	0.567000														39			11		0	0	1	0	0
ZBTB43	23099	broad.mit.edu	37	9	129595113	129595113	+	Missense_Mutation	SNP	T	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:129595113T>A	uc022bnm.1	+	0	325	c.325T>A	c.(325-327)Ttc>Atc	p.F109I	ZBTB43_uc004bql.3_Missense_Mutation_p.F109I|ZBTB43_uc010mxf.3_Missense_Mutation_p.F109I	NM_014007	NP_054726	O43298	ZBT43_HUMAN	Homo sapiens zinc finger and BTB domain containing 43 (ZBTB43), transcript variant 1, mRNA.	109					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						AGCGGCAAGCTTCCTCCAGAT	0.453000														63			16		0	0	1	0	0
MYCT1	80177	broad.mit.edu	37	6	153043126	153043126	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:153043126C>T	uc003qpc.4	+	1	454	c.446C>T	c.(445-447)tCc>tTc	p.S149F		NM_025107	NP_079383	Q8N699	MYCT1_HUMAN	Homo sapiens myc target 1 (MYCT1), mRNA.	149						nucleus				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		CGACAAGCTTCCCTGGAACAA	0.498000														87			24		0	0	1	0	0
KCNIP1	30820	broad.mit.edu	37	5	170147352	170147352	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:170147352G>A	uc003mas.3	+	3	776	c.247G>A	c.(247-249)Gac>Aac	p.D83N	KCNIP1_uc003map.3_Missense_Mutation_p.D81N|KCNIP1_uc003mat.3_Missense_Mutation_p.D72N|KCNIP1_uc010jjp.3_Missense_Mutation_p.D44N|KCNIP1_uc010jjq.3_Missense_Mutation_p.D72N	NM_001034837	NP_001030009	Q9NZI2	KCIP1_HUMAN	Homo sapiens Kv channel interacting protein 1 (KCNIP1), transcript variant 1, mRNA.	83	EF-hand 1; degenerate.				detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity			autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGTCAACGAAGACACATTCAA	0.557000														43			16		0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86088433	86088433	+	Missense_Mutation	SNP	T	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:86088433T>A	uc021rxf.1	+	0	575	c.575T>A	c.(574-576)aTt>aAt	p.I192N	FLRT2_uc001xvr.3_Missense_Mutation_p.I192N|FLRT2_uc010atd.3_Missense_Mutation_p.I192N	NM_013231	NP_037363	O43155	FLRT2_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA.	192					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GAAAATCGAATTGCTGTCATA	0.498000														68			27		0	0	1	0	0
AQP5	362	broad.mit.edu	37	12	50358795	50358795	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:50358795C>T	uc001rvo.2	+	3	1155	c.633C>T	c.(631-633)atC>atT	p.I211I	AQP6_uc001rvp.1_5'Flank|AQP6_uc001rvq.1_5'Flank	NM_001651	NP_001642	P55064	AQP5_HUMAN	Homo sapiens aquaporin 5 (AQP5), mRNA.	211					carbon dioxide transport|excretion|odontogenesis|pancreatic juice secretion	apical plasma membrane|integral to plasma membrane	protein binding|water channel activity			large_intestine(1)|lung(3)	4						TAGGGCCCATCGTGGGGGCGG	0.612000														146			16		0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10243522	10243522	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:10243522C>T	uc002gmk.1	-	17	2091	c.2001G>A	c.(1999-2001)agG>agA	p.R667R		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	667	Actin-binding (By similarity).|Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GGTGGGTGCTCCTTAAGTTAG	0.418000														33			7		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22631274	22631274	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:22631274G>A	uc010ajl.1	+	0	84	c.30G>A	c.(28-30)ctG>ctA	p.L10L	TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc001wdh.2_Silent_p.L10L					SubName: Full=HADV29S1; Flags: Fragment;																		CATCAGTGCTGATTCTGTGGC	0.483000											OREG0022575	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		28			10		0	0	1	0	0
ADAM21	8747	broad.mit.edu	37	14	70924332	70924332	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:70924332C>T	uc021rvq.1	+	0	116	c.116C>T	c.(115-117)tCc>tTc	p.S39F	ADAM21_uc001xmd.3_Missense_Mutation_p.S39F	NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	Homo sapiens ADAM metallopeptidase domain 21 (ADAM21), mRNA.	39					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CATTTCACTTCCCCGGAAGTG	0.552000														109			21		0	0	1	0	0
COLEC10	10584	broad.mit.edu	37	8	120114598	120114598	+	Missense_Mutation	SNP	G	A	A	rs142250367		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:120114598G>A	uc003yoo.3	+	3	401	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K		NM_006438	NP_006429	Q9Y6Z7	COL10_HUMAN	Homo sapiens collectin sub-family member 10 (C-type lectin) (COLEC10), mRNA.	102	Collagen-like.					collagen|cytoplasm	mannose binding	p.E102K(2)		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)			TGACAAAGGGGAAAAAGGTTT	0.338000														34			6		0	0	1	0	0
GFRA3	2676	broad.mit.edu	37	5	137600047	137600047	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:137600047C>T	uc003lcn.3	-	1	422	c.282G>A	c.(280-282)agG>agA	p.R94R	GFRA3_uc003lco.3_Silent_p.R94R	NM_001496	NP_001487	O60609	GFRA3_HUMAN	Homo sapiens GDNF family receptor alpha 3 (GFRA3), mRNA.	94					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GAGAGCTGTTCCTGAGTTGCT	0.597000														71			19		0	0	1	0	0
EVI5L	115704	broad.mit.edu	37	19	7916578	7916578	+	Silent	SNP	C	T	T	rs146356394		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:7916578C>T	uc010xjz.2	+	6	956	c.909C>T	c.(907-909)atC>atT	p.I303I	EVI5L_uc002min.3_Silent_p.I303I|EVI5L_uc002mio.1_Silent_p.I34I	NM_001159944	NP_001153416	Q96CN4	EVI5L_HUMAN	Homo sapiens ecotropic viral integration site 5-like (EVI5L), transcript variant 1, mRNA.	303						intracellular	Rab GTPase activator activity|protein binding			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						GGCTGGAGATCGTGTTCCGAG	0.677000														59			11		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9068247	9068247	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:9068247C>T	uc002mkp.3	-	2	19403	c.19199G>A	c.(19198-19200)aGa>aAa	p.R6400K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6402	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						GAGTTCTGTTCTGGAGACCTC	0.498000														50			12		0	0	1	0	0
DPYS	1807	broad.mit.edu	37	8	105459605	105459605	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:105459605C>T	uc003yly.4	-	2	679	c.550G>A	c.(550-552)Gaa>Aaa	p.E184K		NM_001385	NP_001376	Q14117	DPYS_HUMAN	Homo sapiens dihydropyrimidinase (DPYS), mRNA.	184					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GCTCCAATTTCCTTGCACCGA	0.443000														50			10		0	0	1	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83390150	83390150	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chrX:83390150G>A	uc004eej.2	-	6	606	c.570C>T	c.(568-570)caC>caT	p.H190H	RPS6KA6_uc011mqt.2_Silent_p.H190H|RPS6KA6_uc011mqu.2_Silent_p.H87H|RPS6KA6_uc010nmo.1_Non-coding_Transcript	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 6 (RPS6KA6), mRNA.	190	Protein kinase 1.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						TTCCTAATTGGTGCAGATGAT	0.358000														8			7		0	0	1	0	0
CAB39	51719	broad.mit.edu	37	2	231663609	231663609	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:231663609C>T	uc002vqx.3	+	4	996	c.564C>T	c.(562-564)ttC>ttT	p.F188F	CAB39_uc010fxr.3_Silent_p.F188F|CAB39_uc010fxq.3_Silent_p.F188F	NM_016289	NP_057373	Q9Y376	CAB39_HUMAN	Homo sapiens calcium binding protein 39 (CAB39), transcript variant 1, mRNA.	188					cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	kinase binding			central_nervous_system(1)|large_intestine(1)|skin(1)	3		all_lung(227;4.63e-07)|all_hematologic(139;1.83e-06)|Lung NSC(271;2.11e-05)|Acute lymphoblastic leukemia(138;5.51e-05)|Hepatocellular(293;0.0207)|Lung SC(224;0.187)		all cancers(144;1.64e-12)|Epithelial(121;5.29e-11)|LUSC - Lung squamous cell carcinoma(224;0.0154)|Lung(119;0.0177)|COAD - Colon adenocarcinoma(134;0.226)		TTGCCACATTCAAGGTAACAA	0.378000														13			4		0	0	1	0	0
TMEM8C	389827	broad.mit.edu	37	9	136389850	136389850	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:136389850G>A	uc011mdk.2	-	0	219	c.117C>T	c.(115-117)ttC>ttT	p.F39F		NM_001080483	NP_001073952	A6NI61	TMM8C_HUMAN	Homo sapiens transmembrane protein 8C (TMEM8C), mRNA.	39						integral to membrane				NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4)	8						AGAACAGGGTGAAGAGGTAGA	0.632000														69			18		0	0	1	0	0
PCDHB10	56126	broad.mit.edu	37	5	140572902	140572902	+	Silent	SNP	C	T	T	rs150690310		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:140572902C>T	uc003lix.3	+	0	951	c.777C>T	c.(775-777)ttC>ttT	p.F259F		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	Homo sapiens protocadherin beta 10 (PCDHB10), mRNA.	259	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.F259F(2)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCATTGGGTTCCTTATTGTTA	0.463000														70			8		0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201031145	201031145	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:201031145C>T	uc001gvv.3	-	23	3207	c.2980G>A	c.(2980-2982)Gac>Aac	p.D994N		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	994	Dihydropyridine binding (By similarity).				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AAGTGGAAGTCGCTGTGTACC	0.602000														47			13		0	0	1	0	0
CCDC102B	79839	broad.mit.edu	37	18	66504344	66504344	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr18:66504344G>A	uc002lkk.2	+	3	567	c.344G>A	c.(343-345)aGt>aAt	p.S115N	CCDC102B_uc002lki.2_Missense_Mutation_p.S115N|CCDC102B_uc002lkj.1_Missense_Mutation_p.S115N	NM_001093729	NP_079057	Q68D86	C102B_HUMAN	Homo sapiens coiled-coil domain containing 102B (CCDC102B), transcript variant 1, mRNA.	115										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				GAAAGGAACAGTGCCAGGGAG	0.473000														59			10		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140250917	140250917	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:140250917G>A	uc003lia.2	+	0	3087	c.2229G>A	c.(2227-2229)gcG>gcA	p.A743A	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Silent_p.A743A	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	760					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCCCGCGCGGTGGGGAGCT	0.677000														53			14		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123892183	123892183	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr10:123892183C>T	uc001lfv.3	+	5	5993	c.5633C>T	c.(5632-5634)aCc>aTc	p.T1878I	TACC2_uc001lfw.3_Missense_Mutation_p.T69I|TACC2_uc009xzx.3_Missense_Mutation_p.T1878I|TACC2_uc010qtv.2_Missense_Mutation_p.T1927I|TACC2_uc001lfx.3_5'UTR|TACC2_uc001lfy.3_5'UTR	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	1878						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GAAAGCCCAACCTTAGCTGCC	0.557000														102			27		0	0	1	0	0
HPR	3250	broad.mit.edu	37	16	72108278	72108278	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:72108278G>A	uc002fby.3	+	2	217	c.187G>A	c.(187-189)Gga>Aga	p.G63R	TXNL4B_uc010cgl.2_Intron	NM_020995	NP_066275	P00739	HPTR_HUMAN	Homo sapiens haptoglobin-related protein (HPR), mRNA.	63	Sushi.				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				GCGCACAGAAGGAGATGGTAA	0.502000														39			17		0	0	1	0	0
PDE7B	27115	broad.mit.edu	37	6	136512841	136512841	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:136512841C>T	uc003qgp.3	+	12	1519	c.1216C>T	c.(1216-1218)Ctc>Ttc	p.L406F	AJ606316_uc003qgq.1_Intron|PDE7B_uc003qgr.3_Missense_Mutation_p.L458F	NM_018945	NP_061818	Q9NP56	PDE7B_HUMAN	Homo sapiens phosphodiesterase 7B (PDE7B), mRNA.	406	Catalytic (By similarity).				signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)	GCTGGGCCACCTCGCACACAA	0.622000														29			3		0	0	1	0	0
SMOC2	64094	broad.mit.edu	37	6	169008849	169008849	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:169008849G>A	uc003qwr.2	+	8	1090	c.870G>A	c.(868-870)ccG>ccA	p.P290P	SMOC2_uc003qws.2_Silent_p.P279P	NM_022138	NP_071421	Q9H3U7	SMOC2_HUMAN	Homo sapiens SPARC related modular calcium binding 2 (SMOC2), transcript variant 1, mRNA.	279					signal transduction	basement membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		ACGAGCAGCCGAAATGTGACA	0.612000														29			7		0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56482009	56482009	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:56482009C>T	uc002qmh.3	+	5	2552	c.2481C>T	c.(2479-2481)tcC>tcT	p.S827S	NLRP8_uc010etg.3_Silent_p.S827S	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	827						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GAAAAAACTCCCTGGAGAACT	0.498000														163			25		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55538601	55538601	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:55538601C>T	uc003xsd.1	+	3	2307	c.2159C>T	c.(2158-2160)cCc>cTc	p.P720L	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	720					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TCAGATAGTCCCCTTAAAGGA	0.348000														42			8		0	0	1	0	0
NFKBIA	4792	broad.mit.edu	37	14	35871823	35871823	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:35871823T>C	uc001wtf.4	-	4	793	c.683A>G	c.(682-684)cAa>cGa	p.Q228R		NM_020529	NP_065390	P25963	IKBA_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha (NFKBIA), mRNA.	228					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|negative regulation of DNA binding|negative regulation of NF-kappaB transcription factor activity|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of transcription from RNA polymerase II promoter|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	I-kappaB/NF-kappaB complex|cytosol|nucleus|plasma membrane	NF-kappaB binding|identical protein binding|nuclear localization sequence binding|ubiquitin protein ligase binding			breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7	Breast(36;0.0484)|Hepatocellular(127;0.158)		Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)		GTCAGGATTTTGCAGGTCCAC	0.532000														83			26		0	0	1	0	0
FGF7	2252	broad.mit.edu	37	15	49775435	49775435	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:49775435G>A	uc001zxn.3	+	2	903	c.374G>A	c.(373-375)gGa>gAa	p.G125E	C15orf33_uc001zxl.2_Intron|C15orf33_uc001zxm.3_Intron	NM_002009	NP_002000	P21781	FGF7_HUMAN	Homo sapiens fibroblast growth factor 7 (FGF7), mRNA.	125					actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	Palifermin(DB00039)	AACAAGGAAGGAAAACTCTAT	0.343000														52			17		0	0	1	0	0
CACNG1	786	broad.mit.edu	37	17	65040921	65040921	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:65040921G>A	uc002jfu.3	+	0	270	c.145G>A	c.(145-147)Gcc>Acc	p.A49T		NM_000727	NP_000718	Q06432	CCG1_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 1 (CACNG1), mRNA.	49					muscle contraction	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	8	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)				Amlodipine(DB00381)|Diltiazem(DB00343)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Nitrendipine(DB01054)|Verapamil(DB00661)	CTGCGAGGCGGCCCACTTCGG	0.647000														84			12		0	0	1	0	0
OR51B4	79339	broad.mit.edu	37	11	5322369	5322369	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:5322369G>A	uc010qza.2	-	0	808	c.808C>T	c.(808-810)Ccc>Tcc	p.P270S	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033179	NP_149419	Q9Y5P0	O51B4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 4 (OR51B4), mRNA.	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGGTAATGGGGACCACATGA	0.423000														56			5		0	0	1	0	0
GALNT6	11226	broad.mit.edu	37	12	51773463	51773463	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:51773463C>T	uc001ryk.2	-	1	328	c.103G>A	c.(103-105)Gag>Aag	p.E35K	GALNT6_uc009zma.1_Non-coding_Transcript|GALNT6_uc001ryl.1_Missense_Mutation_p.E35K|GALNT6_uc010snh.1_Missense_Mutation_p.E35K	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) (GALNT6), mRNA.	35					protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GTGGCCTCCTCTCTGCTGCTC	0.602000														62			13		0	0	1	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296158	39296158	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:39296158G>A	uc010cxk.2	-	0	582	c.582C>T	c.(580-582)tgC>tgT	p.C194C		NM_030976	NP_112238	Q9BYQ5	KRA46_HUMAN	Homo sapiens keratin associated protein 4-6 (KRTAP4-6), mRNA.	190						keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						AGGGACGGGGGCAGGTGGAAA	0.612000														18			4		0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	117922329	117922329	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:117922329C>T	uc001two.2	-	15	2310	c.2255G>A	c.(2254-2256)gGa>gAa	p.G752E		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	781	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	p.H751N(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTGTAGGATTCCCTTGGCGTG	0.512000														30			5		0	0	1	0	0
CYP4F12	66002	broad.mit.edu	37	19	15791299	15791299	+	Silent	SNP	G	A	A	rs141478890		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:15791299G>A	uc002nbl.3	+	4	614	c.495G>A	c.(493-495)acG>acA	p.T165T	CYP4F12_uc010xoo.2_Silent_p.T165T|CYP4F12_uc010xop.2_3'UTR	NM_023944	NP_076433			Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.									p.T165T(2)		NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					CCTATATAACGATCTTCAACA	0.537000														49			11		0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156738751	156738751	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:156738751C>T	uc021ygm.1	+	10	1207	c.1069C>T	c.(1069-1071)Cgc>Tgc	p.R357C	CYFIP2_uc011ddn.2_Missense_Mutation_p.R332C|CYFIP2_uc011ddo.2_Missense_Mutation_p.R162C|CYFIP2_uc021ygn.1_Missense_Mutation_p.R357C|CYFIP2_uc021ygo.1_Missense_Mutation_p.R357C|CYFIP2_uc003lwt.3_Missense_Mutation_p.R236C|CYFIP2_uc011ddp.2_Missense_Mutation_p.R92C	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA.	358					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGACCACATCCGCTTCATCTC	0.597000														15			3		0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133152354	133152354	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:133152354G>A	uc003ytj.3	-	10	1762	c.1537C>T	c.(1537-1539)Ccc>Tcc	p.P513S	KCNQ3_uc003yti.3_Missense_Mutation_p.P393S|KCNQ3_uc010mdt.3_Missense_Mutation_p.P513S	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	513					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TTCAGGGTGGGGATCATGTCT	0.627000														102			25		0	0	1	0	0
ADNP2	22850	broad.mit.edu	37	18	77895182	77895182	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr18:77895182G>A	uc002lnw.3	+	3	2341	c.1886G>A	c.(1885-1887)gGa>gAa	p.G629E		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	Homo sapiens ADNP homeobox 2 (ADNP2), mRNA.	629					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		GTTCCCCCTGGAGGCCTTGCG	0.622000														89			24		0	0	1	0	0
SHC2	25759	broad.mit.edu	37	19	434845	434845	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:434845G>A	uc002loq.4	-	7	974	c.974C>T	c.(973-975)tCg>tTg	p.S325L		NM_012435	NP_036567	P98077	SHC2_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) transforming protein 2 (SHC2), mRNA.	325	PID.				Ras protein signal transduction|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway	cytosol				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCCCAGGCCGACTCCTCCGG	0.662000														71			21		0	0	1	0	0
DUOX1	53905	broad.mit.edu	37	15	45436415	45436415	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:45436415C>T	uc001zus.1	+	17	2464	c.2118C>T	c.(2116-2118)atC>atT	p.I706I	DUOX1_uc001zut.1_Silent_p.I706I|DUOX1_uc010bee.1_Silent_p.I86I	NM_017434	NP_787954	Q9NRD9	DUOX1_HUMAN	Homo sapiens dual oxidase 1 (DUOX1), transcript variant 1, mRNA.	706					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TGCTCAAGATCCCCAAGGAGT	0.622000														73			11		0	0	1	0	0
OR5AP2	338675	broad.mit.edu	37	11	56409485	56409485	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:56409485C>T	uc001njb.1	-	0	431	c.431G>A	c.(430-432)gGg>gAg	p.G144E	OR8U8_uc001nit.2_Intron	NM_001002925	NP_001002925	Q8NGF4	O5AP2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AP, member 2 (OR5AP2), mRNA.	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S143F(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						GCAAATTCTCCCAGACACGAG	0.493000														73			13		0	0	1	0	0
SLC5A7	60482	broad.mit.edu	37	2	108614302	108614302	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:108614302A>T	uc002tdv.3	+	4	733	c.457A>T	c.(457-459)Atc>Ttc	p.I153F	SLC5A7_uc010ywm.2_5'UTR|SLC5A7_uc010fjj.3_Missense_Mutation_p.I153F|SLC5A7_uc010ywn.2_Missense_Mutation_p.I40F	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	153					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	AGGAGCCACCATCAGCGTGAT	0.453000														198			118		0	0	1	0	0
OR52B4	143496	broad.mit.edu	37	11	4389043	4389043	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:4389043G>A	uc010qye.2	-	0	574	c.483C>T	c.(481-483)atC>atT	p.I161I		NM_001005161	NP_001005161	Q8NGK2	O52B4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 4 (OR52B4), mRNA.	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAAGAAATATGATAGGGAAAA	0.358000														21			8		0	0	1	0	0
SERPINB9	5272	broad.mit.edu	37	6	2890586	2890586	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:2890586G>A	uc003mug.3	-	6	1063	c.942C>T	c.(940-942)ttC>ttT	p.F314F	AY927512_uc003mue.3_Intron|SERPINB9_uc003muf.3_Silent_p.F117F	NM_004155	NP_004146	P50453	SPB9_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 9 (SERPINB9), mRNA.	314					anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				TCTTGTGCACGAACTTGGACA	0.537000														104			27		0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	63102156	63102157	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:63102156_63102157GG>AA	uc002alb.4	+	48	6696_6697	c.6696_6697GG>AA	c.(6694-6699)gaggtg>gaAAtg	p.V2233M	TLN2_uc002alc.4_Missense_Mutation_p.V626M	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	2233					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	p.E2232*(1)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TCAGTGACGAGGTGAGAACCAG	0.550000														58			9		0	0	1	0	0
RGS1	5996	broad.mit.edu	37	1	192544995	192544995	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:192544995G>A	uc001gsi.1	+	0	139	c.73G>A	c.(73-75)Gaa>Aaa	p.E25K	RGS1_uc010pou.1_Missense_Mutation_p.E25K	NM_002922	NP_002913	Q08116	RGS1_HUMAN	Homo sapiens regulator of G-protein signaling 1 (RGS1), mRNA.	25					immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|calmodulin binding|signal transducer activity			kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				TAACCCAAAGGAATTGAAAGG	0.418000														33			7		0	0	1	0	0
PYHIN1	149628	broad.mit.edu	37	1	158911970	158911970	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:158911970G>A	uc001ftb.3	+	4	1033	c.783G>A	c.(781-783)agG>agA	p.R261R	PYHIN1_uc001ftc.3_Silent_p.R252R|PYHIN1_uc001ftd.3_Silent_p.R261R|PYHIN1_uc001fte.3_Silent_p.R252R	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	Homo sapiens pyrin and HIN domain family, member 1 (PYHIN1), transcript variant 1, mRNA.	261	HIN-200.				cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					ACTTGAAGAGGAAATTCATTA	0.363000														25			7		0	0	1	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713546	70713546	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:70713546C>T	uc010ttg.2	-	0	973	c.322G>A	c.(322-324)Gat>Aat	p.D108N						Homo sapiens ADAM metallopeptidase domain 21 pseudogene 1 (ADAM21P1), non-coding RNA.																		TGAGAGAAATCATTTAGGATC	0.358000														41			7		0	0	1	0	0
SF3B1	23451	broad.mit.edu	37	2	198267484	198267484	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:198267484G>A	uc002uue.3	-	13	1921	c.1873C>T	c.(1873-1875)Cgt>Tgt	p.R625C		NM_012433	NP_036565	O75533	SF3B1_HUMAN	Homo sapiens splicing factor 3b, subunit 1, 155kDa (SF3B1), transcript variant 1, mRNA.	625					nuclear mRNA splicing, via spliceosome	U12-type spliceosomal complex|catalytic step 2 spliceosome|nuclear speck	protein binding	p.R625C(14)|p.R625L(12)|p.R625?(9)|p.R625P(2)|p.R625H(2)|p.R625G(1)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTTGTGTTACGGACATACTCA	0.433000			Mis		myelodysplastic syndrome									45			11		0	0	1	0	0
OR5AC2	81050	broad.mit.edu	37	3	97806295	97806295	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:97806295G>A	uc011bgs.2	+	0	279	c.279G>A	c.(277-279)atG>atA	p.M93I		NM_054106	NP_473447	Q9NZP5	O5AC2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AC, member 2 (OR5AC2), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						AGACTGCAATGATATCCCTAG	0.438000														194			48		0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94674859	94674859	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:94674859G>A	uc001dqj.4	-	3	757	c.388C>T	c.(388-390)Cag>Tag	p.Q130*	ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dql.3_Nonsense_Mutation_p.Q130*	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	130					Rho protein signal transduction	cytosol	Rho GTPase activator activity|metal ion binding			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		AACACTTCCTGGAAGAGATCG	0.328000														23			10		0	0	1	0	0
CABS1	85438	broad.mit.edu	37	4	71200859	71200859	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:71200859C>T	uc003hff.3	+	0	189	c.103C>T	c.(103-105)Ccc>Tcc	p.P35S	CABS1_uc021xoz.1_Missense_Mutation_p.P35S	NM_033122	NP_149113	Q96KC9	CABS1_HUMAN	Homo sapiens calcium-binding protein, spermatid-specific 1 (CABS1), mRNA.	35						flagellum	calcium ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CAATGCTATTCCCAAATCAGA	0.388000														49			10		0	0	1	0	0
LHCGR	3973	broad.mit.edu	37	2	48915316	48915316	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:48915316G>A	uc002rwu.4	-	10	1690	c.1620C>T	c.(1618-1620)ttC>ttT	p.F540F	STON1-GTF2A1L_uc021vhf.1_Intron	NM_000233	NP_000224	P22888	LSHR_HUMAN	Homo sapiens luteinizing hormone/choriogonadotropin receptor (LHCGR), mRNA.	540				F -> L (in Ref. 3; AAA70231).	male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	CACAAATTATGAAGAAGGCCA	0.363000														87			32		0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226447249	226447249	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:226447249G>A	uc002voe.2	+	3	1291	c.1116G>A	c.(1114-1116)atG>atA	p.M372I	NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_Missense_Mutation_p.M142I	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	372	Pro-rich.																TGTCTTACATGAAACAGCCAG	0.667000														20			14		0	0	1	0	0
ZYX	7791	broad.mit.edu	37	7	143085406	143085406	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:143085406C>T	uc003wcx.3	+	5	1276	c.1118C>T	c.(1117-1119)cCt>cTt	p.P373L	ZYX_uc011ktd.2_Missense_Mutation_p.P216L|ZYX_uc003wcw.3_Missense_Mutation_p.P373L|ZYX_uc011kte.2_Missense_Mutation_p.P342L|ZYX_uc011ktf.2_Missense_Mutation_p.P216L	NM_003461	NP_003452	Q15942	ZYX_HUMAN	Homo sapiens zyxin (ZYX), transcript variant 1, mRNA.	373					cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					ATGGAGCATCCTCAGAGGCAG	0.672000														58			14		0	0	1	0	0
ZNF507	22847	broad.mit.edu	37	19	32847604	32847604	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:32847604C>T	uc002nte.3	+	3	2482	c.2210C>T	c.(2209-2211)tCc>tTc	p.S737F	ZNF507_uc002ntc.2_Missense_Mutation_p.S737F|ZNF507_uc010xrn.1_Missense_Mutation_p.S737F|ZNF507_uc002ntd.3_Missense_Mutation_p.S737F	NM_001136156	NP_055725	Q8TCN5	ZN507_HUMAN	Homo sapiens zinc finger protein 507 (ZNF507), transcript variant 1, mRNA.	737					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					CCAAGAATTTCCAGTGATACA	0.403000														56			15		0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103427792	103427792	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:103427792C>T	uc001dum.3	-	39	3408	c.3090G>A	c.(3088-3090)ggG>ggA	p.G1030G	COL11A1_uc001duk.3_Silent_p.G214G|COL11A1_uc001dul.3_Silent_p.G1018G|COL11A1_uc001dun.3_Silent_p.G979G|COL11A1_uc009weh.3_Silent_p.G902G	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1018	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GTCCATCTTTCCCTGAGATAC	0.383000														66			9		0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	96706696	96706696	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:96706696G>A	uc010how.1	+	2	1016	c.973G>A	c.(973-975)Gaa>Aaa	p.E325K	EPHA6_uc003drp.1_Missense_Mutation_p.E325K	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	230						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CTCTTTGGTTGAAGTACGGGG	0.473000														106			32		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767078	77767078	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:77767078G>A	uc003yau.2	+	9	8308	c.7921G>A	c.(7921-7923)Gaa>Aaa	p.E2641K	ZFHX4_uc003yaw.1_Missense_Mutation_p.E2596K	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2596						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TATTGCCCGCGAAGTCGGGCT	0.512000										HNSCC(33;0.089)				40			7		0	0	1	0	0
KRT25	147183	broad.mit.edu	37	17	38910144	38910144	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:38910144C>T	uc002hve.3	-	2	698	c.637G>A	c.(637-639)Gag>Aag	p.E213K		NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN	Homo sapiens keratin 25 (KRT25), mRNA.	213	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				TAAGTCATCTCCTCACTCAGG	0.448000														126			27		0	0	1	0	0
IGF1	3479	broad.mit.edu	37	12	102811603	102811603	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:102811603C>T	uc001tjp.4	-	3	800	c.581G>A	c.(580-582)gGa>gAa	p.G194E	IGF1_uc001tjn.2_Intron|IGF1_uc001tjm.2_Intron|IGF1_uc001tjo.2_Intron	NM_001111285	NP_001104755	P05019	IGF1_HUMAN	Homo sapiens insulin-like growth factor 1 (somatomedin C) (IGF1), transcript variant 3, mRNA.	194					DNA replication|Ras protein signal transduction|anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of activated T cell proliferation|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration	platelet alpha granule lumen	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)	11						CCTTCATTTTCCTTTTTTGCC	0.438000														221			55		0	0	1	0	0
PENK	5179	broad.mit.edu	37	8	57353902	57353902	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:57353902C>T	uc003xsz.2	-	1	814	c.733G>A	c.(733-735)Gaa>Aaa	p.E245K	PENK_uc003xta.3_Missense_Mutation_p.E245K	NM_006211	NP_006202	P01210	PENK_HUMAN	Homo sapiens proenkephalin (PENK), transcript variant 2, mRNA.	245					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			TCGCCTTCTTCGTCGGAGGGC	0.498000														89			17		0	0	1	0	0
ANGEL2	90806	broad.mit.edu	37	1	213186685	213186685	+	Silent	SNP	A	G	G			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:213186685A>G	uc001hjz.3	-	1	290	c.135T>C	c.(133-135)tgT>tgC	p.C45C	ANGEL2_uc010pto.2_Intron|ANGEL2_uc010ptp.2_Intron|ANGEL2_uc001hka.3_Intron|ANGEL2_uc010ptq.2_Intron|ANGEL2_uc001hkb.3_Silent_p.C23C	NM_144567	NP_653168	Q5VTE6	ANGE2_HUMAN	Homo sapiens angel homolog 2 (Drosophila) (ANGEL2), mRNA.	45										central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		TGTTCCAGCAACACCTTTGCA	0.448000														143			31		0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118220960	118220960	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chrX:118220960G>A	uc004era.4	-	10	4233	c.4233C>T	c.(4231-4233)ttC>ttT	p.F1411F		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	1411								p.K1411T(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						AACCTTGGCTGAATTTCTTGG	0.463000														40			21		0	0	1	0	0
PACS1	55690	broad.mit.edu	37	11	66000511	66000511	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:66000511C>T	uc001oha.2	+	14	1946	c.1812C>T	c.(1810-1812)tcC>tcT	p.S604S	PACS1_uc010rou.2_Silent_p.S140S	NM_018026	NP_060496	Q6VY07	PACS1_HUMAN	Homo sapiens phosphofurin acidic cluster sorting protein 1 (PACS1), mRNA.	604					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						CCGTGCTGTCCGCCCTGCTCA	0.617000														149			33		0	0	1	0	0
NEUROD6	63974	broad.mit.edu	37	7	31378112	31378112	+	Missense_Mutation	SNP	T	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:31378112T>A	uc003tch.3	-	1	1124	c.771A>T	c.(769-771)gaA>gaT	p.E257D	NEUROD6_uc022abi.1_Missense_Mutation_p.E257D	NM_022728	NP_073565	Q96NK8	NDF6_HUMAN	Homo sapiens neurogenic differentiation 6 (NEUROD6), mRNA.	257					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						TTAAGGGACCTTCAAACTGAG	0.408000														40			17		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179570033	179570033	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:179570033C>T	uc021vsy.1	-	99	25965	c.25740G>A	c.(25738-25740)atG>atA	p.M8580I	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.M5241I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9507	Ig-like 68.						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)			TGAGAAGTTCCATGATATCAA	0.343000														10			5		0	0	1	0	0
OR52E6	390078	broad.mit.edu	37	11	5862783	5862783	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:5862783G>A	uc010qzq.2	-	0	345	c.345C>T	c.(343-345)atC>atT	p.I115I	TRIM5_uc001mbq.1_Intron	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 6 (OR52E6), mRNA.	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCACCAATACGATGCTCTCCA	0.448000														151			19		0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75276419	75276419	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:75276419C>T	uc001xqj.4	+	6	4982	c.4858C>T	c.(4858-4860)Cct>Tct	p.P1620S	YLPM1_uc001xql.4_Non-coding_Transcript|YLPM1_uc001xqm.1_Missense_Mutation_p.P103S	NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	1425					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		p.P1620S(1)|p.P1425S(1)		breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CATTCCCCCTCCTGGCCCAGT	0.493000														44			15		0	0	1	0	0
PPM1E	22843	broad.mit.edu	37	17	57058075	57058075	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:57058075G>A	uc002iwx.3	+	6	2078	c.1951G>A	c.(1951-1953)Ggg>Agg	p.G651R	PPM1E_uc010ddd.3_Missense_Mutation_p.G414R	NM_014906	NP_055721	Q8WY54	PPM1E_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1E (PPM1E), mRNA.	660					protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			TGTCTGTTCAGGGTTGGAAAA	0.458000														202			39		0	0	1	0	0
OR2AG2	338755	broad.mit.edu	37	11	6790141	6790141	+	Silent	SNP	C	T	T	rs150134059		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:6790141C>T	uc001meq.1	-	0	48	c.48G>A	c.(46-48)ggG>ggA	p.G16G		NM_001004490	NP_001004490	A6NM03	O2AG2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AG, member 2 (OR2AG2), mRNA.	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G16E(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CATTCAGAATCCCCACCAAGA	0.463000														47			10		0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57480751	57480751	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:57480751C>T	uc009vzx.1	-	11	1569	c.1249G>A	c.(1249-1251)Gat>Aat	p.D417N	DAB1_uc001cyt.1_Missense_Mutation_p.D415N|DAB1_uc001cyq.1_Missense_Mutation_p.D415N|DAB1_uc001cyr.1_Missense_Mutation_p.D331N|DAB1_uc009vzw.1_Missense_Mutation_p.D399N|DAB1_uc001cys.1_Missense_Mutation_p.D417N	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	450					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						ATCTGGAAATCCTTAAACGTT	0.592000														67			8		0	0	1	0	0
LOC646214	646214	broad.mit.edu	37	15	21937762	21937762	+	RNA	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:21937762G>A	uc010tzj.1	-	0		c.2978C>T								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		ATCCAGCACAGCCTGAGGATT	0.463000														99			5		0	0	1	0	0
COBRA1	25920	broad.mit.edu	37	9	140157635	140157635	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:140157635G>A	uc004cmm.4	+	4	947	c.744G>A	c.(742-744)ctG>ctA	p.L248L		NM_015456	NP_056271	Q8WX92	NELFB_HUMAN	Homo sapiens cofactor of BRCA1 (COBRA1), mRNA.	248					negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleoplasm	protein binding			endometrium(2)|large_intestine(5)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	16	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.137)	OV - Ovarian serous cystadenocarcinoma(145;9.42e-05)|Epithelial(140;0.000766)		TGCACGACCTGGACGTGGGTG	0.632000														115			17		0	0	1	0	0
MGAT4C	25834	broad.mit.edu	37	12	86373294	86373294	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:86373294C>T	uc010sum.2	-	5	1441	c.1282G>A	c.(1282-1284)Gat>Aat	p.D428N	MGAT4C_uc001tal.4_Missense_Mutation_p.D404N|MGAT4C_uc001taj.4_Missense_Mutation_p.D404N|MGAT4C_uc001tak.4_Missense_Mutation_p.D404N|MGAT4C_uc001tai.4_Missense_Mutation_p.D404N|MGAT4C_uc001tah.4_Missense_Mutation_p.D404N	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) (MGAT4C), mRNA.	404			T -> S (in dbSNP:rs17855890).		post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TGCAAAATATCATTTTGCCGA	0.328000														34			5		0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142640047	142640047	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:142640047G>A	uc003wcb.3	-	16	2066	c.1856C>T	c.(1855-1857)cCa>cTa	p.P619L		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	619					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GCTAGGTAATGGAAAGGCAGC	0.547000														150			26		0	0	1	0	0
STARD13	90627	broad.mit.edu	37	13	33681071	33681071	+	Splice_Site	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr13:33681071C>T	uc001uuw.3	-	13	3174	c.3048_splice	c.e13-1	p.R1016_splice	STARD13_uc001uuu.3_Splice_Site_p.R1008_splice|STARD13_uc001uuv.3_Splice_Site_p.R898_splice|STARD13_uc001uux.3_Splice_Site_p.R981_splice	NM_178006	NP_443083	Q9Y3M8	STA13_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 13 (STARD13), transcript variant 1, mRNA.	1016	START.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		TTTTCCAGGTCCTGTAGCAAA	0.507000														74			12		0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10535036	10535036	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:10535036G>A	uc002gmq.2	-	35	5266	c.5178C>T	c.(5176-5178)caC>caT	p.H1726H		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	1726					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TCTTCTTGGTGTGGATGAGGC	0.572000											OREG0024180	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		51			11		0	0	1	0	0
NR1H4	9971	broad.mit.edu	37	12	100904661	100904661	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:100904661C>T	uc001tht.2	+	1	243	c.215C>T	c.(214-216)tCc>tTc	p.S72F	NR1H4_uc001thq.2_Missense_Mutation_p.S62F|NR1H4_uc001thp.2_Missense_Mutation_p.S62F|NR1H4_uc001thr.2_Missense_Mutation_p.S62F|NR1H4_uc010svk.2_Missense_Mutation_p.S62F|NR1H4_uc010svj.2_Non-coding_Transcript|NR1H4_uc001ths.2_Missense_Mutation_p.S72F	NM_001206993	NP_001193922	Q96RI1	NR1H4_HUMAN	Homo sapiens nuclear receptor subfamily 1, group H, member 4 (NR1H4), transcript variant 3, mRNA.	72					bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						CCACAGATTTCCTCGTCATCC	0.483000														71			11		0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20482880	20482880	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:20482880G>A	uc010bwe.3	+	6	1002	c.763G>A	c.(763-765)Gat>Aat	p.D255N	ACSM2A_uc010bwd.1_Non-coding_Transcript|ACSM2A_uc010vax.1_Missense_Mutation_p.D176N|ACSM2A_uc002dhf.4_Missense_Mutation_p.D255N|ACSM2A_uc002dhg.4_Missense_Mutation_p.D255N|ACSM2A_uc010vay.2_Missense_Mutation_p.D176N	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	255					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GCAAGCCTCTGATATAATGTG	0.458000														110			32		0	0	1	0	0
ZNF695	57116	broad.mit.edu	37	1	247150613	247150613	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:247150613G>A	uc009xgu.3	-	3	1389	c.1204C>T	c.(1204-1206)Cat>Tat	p.H402Y	ZNF695_uc001ica.3_Intron|ZNF695_uc001icb.2_Intron|ZNF695_uc009xgt.2_Intron|ZNF695_uc001ibx.3_Intron|ZNF695_uc001iby.3_Intron	NM_020394	NP_065127	Q8IW36	ZN695_HUMAN	Homo sapiens zinc finger protein 695 (ZNF695), transcript variant 1, mRNA.	402					regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TGCCCAGTATGAATTCTCTTA	0.388000														38			13		0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42794832	42794832	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:42794832G>A	uc002otf.1	+	9	1952	c.1912G>A	c.(1912-1914)Gag>Aag	p.E638K		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	638	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.E638K(2)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCCAAACAAGGAGGAGCAAGA	0.692000			"""Mis, F, S"""		oligodendroglioma									43			9		0	0	1	0	0
KCNK5	8645	broad.mit.edu	37	6	39162039	39162039	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:39162039G>A	uc003oon.3	-	3	904	c.540C>T	c.(538-540)ttC>ttT	p.F180F		NM_003740	NP_003731	O95279	KCNK5_HUMAN	Homo sapiens potassium channel, subfamily K, member 5 (KCNK5), mRNA.	180					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						CCATGAATACGAAGGGTGGGA	0.572000														109			24		0	0	1	0	0
PI15	51050	broad.mit.edu	37	8	75761470	75761470	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:75761470C>T	uc003yal.3	+	5	938	c.759C>T	c.(757-759)taC>taT	p.Y253Y	AK024242_uc003yak.1_Intron|PI15_uc003yam.3_Silent_p.Y253Y	NM_015886	NP_056970	O43692	PI15_HUMAN	Homo sapiens peptidase inhibitor 15 (PI15), mRNA.	253						extracellular region	peptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			CGTCAAACTACCTGTACTGGT	0.378000														71			20		0	0	1	0	0
SASS6	163786	broad.mit.edu	37	1	100587028	100587028	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:100587028G>A	uc001dsu.3	-	4	530	c.389C>T	c.(388-390)cCt>cTt	p.P130L	SASS6_uc009wdz.3_5'UTR	NM_194292	NP_919268	Q6UVJ0	SAS6_HUMAN	Homo sapiens spindle assembly 6 homolog (C. elegans) (SASS6), mRNA.	130					centriole replication	centriole		p.P130L(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		ATGCTTAAAAGGATTTGTCTC	0.348000														57			9		0	0	1	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48602351	48602351	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:48602351C>T	uc010wmr.2	+	12	2040	c.1878C>T	c.(1876-1878)acC>acT	p.T626T	MYCBPAP_uc002iqz.3_Non-coding_Transcript	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Homo sapiens MYCBP associated protein (MYCBPAP), mRNA.	589					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			CCTATCTCACCGAGGAAGACT	0.647000														145			19		0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125671812	125671812	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:125671812G>A	uc010flu.3	+	23	4235	c.3871G>A	c.(3871-3873)Gaa>Aaa	p.E1291K	CNTNAP5_uc002tno.3_Missense_Mutation_p.E1290K	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	1290					cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CTTCAGAAATGAAATTGACTT	0.418000														25			5		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9059785	9059785	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:9059785C>T	uc002mkp.3	-	2	27865	c.27661G>A	c.(27661-27663)Gag>Aag	p.E9221K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9223	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						TCCAGTTTCTCTGTATCTGTA	0.468000														79			7		0	0	1	0	0
ZNF8	7554	broad.mit.edu	37	19	58805901	58805902	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:58805901_58805902CC>TT	uc002qry.1	+	3	857_858	c.727_728CC>TT	c.(727-729)cca>TTa	p.P243L	ZNF8_uc002qrz.3_Non-coding_Transcript	NM_021089	NP_066575	P17098	ZNF8_HUMAN	Homo sapiens zinc finger protein 8 (ZNF8), mRNA.	243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		TCAGGCCATTCCAATTACGGAA	0.495000														51			5		0	0	1	0	0
TTC29	83894	broad.mit.edu	37	4	147830331	147830331	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:147830331C>T	uc003ikx.4	-	5	575	c.325G>A	c.(325-327)Gag>Aag	p.E109K	TTC29_uc003ikw.4_Missense_Mutation_p.E83K|TTC29_uc010ipc.3_Non-coding_Transcript|TTC29_uc010ipd.1_Missense_Mutation_p.E83K	NM_031956	NP_114162	Q8NA56	TTC29_HUMAN	Homo sapiens tetratricopeptide repeat domain 29 (TTC29), mRNA.	83							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					GCGAAGAGCTCGGTGAAGGAC	0.517000														26			6		0	0	1	0	0
ZNF829	374899	broad.mit.edu	37	19	37405908	37405908	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:37405908C>T	uc021utr.1	-	2	365	c.298G>A	c.(298-300)Gag>Aag	p.E100K	ZNF568_uc010efg.3_5'Flank|ZNF568_uc010xtn.2_5'Flank|ZNF829_uc002ofa.2_Missense_Mutation_p.E19K|ZNF829_uc002ofb.3_Missense_Mutation_p.E19K|ZNF568_uc002ofc.3_5'Flank|ZNF568_uc021uts.1_5'Flank|ZNF568_uc002ofd.3_5'Flank|ZNF568_uc010efe.3_5'Flank|ZNF568_uc010eff.2_5'Flank	NM_001171979	NP_001165450	Q3KNS6	ZN829_HUMAN	Homo sapiens zinc finger protein 829 (ZNF829), transcript variant 1, mRNA.	19	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATTCTTTCCTCCTCTTCTGGG	0.408000														40			11		0	0	1	0	0
PLAG1	5324	broad.mit.edu	37	8	57079506	57079506	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:57079506G>A	uc003xsq.4	-	2	1250	c.799C>T	c.(799-801)Ctt>Ttt	p.L267F	PLAG1_uc003xsr.4_Missense_Mutation_p.L267F|PLAG1_uc010lyi.3_Missense_Mutation_p.L267F|PLAG1_uc010lyj.3_Missense_Mutation_p.L185F|PLAG1_uc022aur.1_Missense_Mutation_p.L185F	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	Homo sapiens pleiomorphic adenoma gene 1 (PLAG1), transcript variant 3, mRNA.	267	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Repression domain; contains 3 sumoylation motifs and massively decrease transcription activity.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			ATCACCGGAAGGAGCTCGTCT	0.438000			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma									138			31		0	0	1	0	0
ARHGEF18	23370	broad.mit.edu	37	19	7534917	7534917	+	Splice_Site	SNP	T	C	C			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:7534917T>C	uc002mgi.3	+	18	3602	c.3349_splice	c.e18+2	p.D1117_splice	ARHGEF18_uc010xjm.1_Splice_Site_p.D959_splice|ARHGEF18_uc002mgh.3_Splice_Site_p.D959_splice|ARHGEF18_uc002mgj.1_Splice_Site_p.D754_splice|ARHGEF18_uc021unt.1_5'Flank	NM_001130955	NP_056133	Q6ZSZ5	ARHGI_HUMAN	Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 18 (ARHGEF18), transcript variant 2, mRNA.	1117	Pro-rich.				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|regulation of cell shape|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				CCCCACCAGGTGAGCCCCCAC	0.662000														99			30		0	0	1	0	0
OR2H1	26716	broad.mit.edu	37	6	29429564	29429564	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:29429564C>T	uc003nmi.3	+	2	461	c.18C>T	c.(16-18)tcC>tcT	p.S6S	OR2H1_uc003nmj.1_Silent_p.S6S|OR2H1_uc010jri.2_Intron|OR2H1_uc021ytr.1_Silent_p.S6S	NM_030883	NP_112145	Q9GZK4	OR2H1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily H, member 1 (OR2H1), mRNA.	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(12)	17						ACCAAAGCTCCCCCATGGGCT	0.527000														104			26		0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16918508	16918508	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:16918508C>T	uc002neu.4	+	17	4270	c.3848C>T	c.(3847-3849)cCc>cTc	p.P1283L	NWD1_uc002net.4_Missense_Mutation_p.P1148L|NWD1_uc002nev.4_Missense_Mutation_p.P1077L|NWD1_uc021uqg.1_Missense_Mutation_p.P1148L	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	1283							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTTGTGTTCCCCCTGAATTCC	0.597000														58			15		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	33990614	33990614	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:33990614G>A	uc001bxm.1	-	65	10441	c.10264C>T	c.(10264-10266)Ctg>Ttg	p.L3422L	CSMD2_uc001bxn.1_Silent_p.L3278L	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	3278						integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCTTTCCACAGGGAATTCTTG	0.498000														175			20		0	0	1	0	0
AKR1D1	6718	broad.mit.edu	37	7	137792289	137792289	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:137792289A>G	uc003vtz.3	+	6	905	c.818A>G	c.(817-819)aAa>aGa	p.K273R	AKR1D1_uc011kqf.2_Missense_Mutation_p.K232R|AKR1D1_uc011kqe.1_Missense_Mutation_p.K273R|AKR1D1_uc010lmy.1_Non-coding_Transcript	NM_005989	NP_005980	P51857	AK1D1_HUMAN	Homo sapiens aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase) (AKR1D1), transcript variant 1, mRNA.	273					C21-steroid hormone metabolic process|androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						GTCATTCCTAAAAGCTTTAAT	0.363000														105			19		0	0	1	0	0
CLEC17A	388512	broad.mit.edu	37	19	14705470	14705470	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:14705470C>T	uc010dzn.2	+	5	414	c.337C>T	c.(337-339)Cct>Tct	p.P113S	CLEC17A_uc010dzo.2_Missense_Mutation_p.P113S|CLEC17A_uc002mzh.2_Missense_Mutation_p.P96S|CLEC17A_uc010xnt.2_Non-coding_Transcript|CLEC17A_uc010xnu.2_Missense_Mutation_p.P113S	NM_001204118	NP_001191047	Q6ZS10	CL17A_HUMAN	Homo sapiens C-type lectin domain family 17, member A (CLEC17A), transcript variant 1, mRNA.	113						cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity										ACCCCCACTTCCTTGCAAGCC	0.557000														42			11		0	0	1	0	0
DHX38	9785	broad.mit.edu	37	16	72137629	72137629	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:72137629C>T	uc002fcb.3	+	12	2121	c.1766C>T	c.(1765-1767)gCt>gTt	p.A589V	DHX38_uc010vmp.2_Intron	NM_014003	NP_054722	Q92620	PRP16_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 38 (DHX38), mRNA.	589	Helicase ATP-binding.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				CGGCGTGTAGCTGCCATGTCA	0.572000														32			11		0	0	1	0	0
ZNF398	57541	broad.mit.edu	37	7	148876608	148876608	+	Silent	SNP	C	T	T	rs143481615		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:148876608C>T	uc011kum.2	+	6	1800	c.1659C>T	c.(1657-1659)ttC>ttT	p.F553F	ZNF398_uc011kul.2_Silent_p.F377F|ZNF398_uc003wfl.3_Silent_p.F548F	NM_020781	NP_065832	Q8TD17	ZN398_HUMAN	Homo sapiens zinc finger protein 398 (ZNF398), transcript variant 2, mRNA.	548					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			GCAAGAGCTTCATCCGCAAGC	0.602000														167			15		0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23874032	23874032	+	Splice_Site	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:23874032C>T	uc001wjv.3	-	7	602	c.531_splice	c.e7-1	p.T177_splice	MYH6_uc010akp.2_Splice_Site_p.T177_splice	NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	177	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GGATTCTCCCCTGGGGGCCAC	0.567000														74			21		0	0	1	0	0
AQPEP	206338	broad.mit.edu	37	5	115335570	115335570	+	Missense_Mutation	SNP	G	A	A	rs140991083		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:115335570G>A	uc003kro.3	+	6	1650	c.1486G>A	c.(1486-1488)Gaa>Aaa	p.E496K	AQPEP_uc003krp.3_Non-coding_Transcript|AQPEP_uc003krs.3_Non-coding_Transcript|AQPEP_uc003krq.3_Non-coding_Transcript|AQPEP_uc003krr.3_Non-coding_Transcript	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	Homo sapiens laeverin (AQPEP), mRNA.	496					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding	p.E496K(1)									TGAAATACAGGAACTCTTTGA	0.358000														46			13		0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32088003	32088003	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:32088003G>A	uc003jhl.3	+	19	4837	c.4449G>A	c.(4447-4449)ccG>ccA	p.P1483P	PDZD2_uc003jhm.3_Silent_p.P1483P	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	1483					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		p.P1483P(2)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CCTCCTCCCCGAGGAGGGCCT	0.642000														23			5		0	0	1	0	0
CHST4	10164	broad.mit.edu	37	16	71570920	71570920	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:71570920G>A	uc021tkt.1	+	0	340	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K	CHST4_uc002fan.3_Missense_Mutation_p.E114K|CHST4_uc002fao.3_Missense_Mutation_p.E114K	NM_005769	NP_005760	Q8NCG5	CHST4_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 (CHST4), transcript variant 1, mRNA.	114					N-acetylglucosamine metabolic process|cell-cell signaling|immune response|inflammatory response|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						TGCCTACATGGAACCTGGTCC	0.567000														90			22		0	0	1	0	0
EVC	2121	broad.mit.edu	37	4	5731072	5731072	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:5731072C>T	uc003gil.1	+	2	523	c.339C>T	c.(337-339)ttC>ttT	p.F113F	EVC_uc003gim.1_Non-coding_Transcript	NM_153717	NP_714928	P57679	EVC_HUMAN	Homo sapiens Ellis van Creveld syndrome (EVC), mRNA.	113					muscle organ development	integral to membrane		p.A112S(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				TCACAGCATTCGCCCTGAAGG	0.483000														79			15		0	0	1	0	0
OR56A4	120793	broad.mit.edu	37	11	6024114	6024114	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:6024114G>A	uc010qzv.2	-	0	265	c.265C>T	c.(265-267)Ctc>Ttc	p.L89F		NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 4 (OR56A4), mRNA.	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L89I(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGAGGAAGAGAAGGCTGAGG	0.592000														44			9		0	0	1	0	0
ITGB7	3695	broad.mit.edu	37	12	53594030	53594030	+	Silent	SNP	T	C	C			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:53594030T>C	uc009zmv.3	-	1	269	c.198A>G	c.(196-198)caA>caG	p.Q66Q	ITGB7_uc001scc.3_Silent_p.Q66Q|ITGB7_uc010snz.2_Non-coding_Transcript|ITGB7_uc010soa.1_Silent_p.Q66Q	NM_000889	NP_000880	P26010	ITB7_HUMAN	Homo sapiens integrin, beta 7 (ITGB7), mRNA.	66					cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCTTTACCAGTTGCTTGCACC	0.522000														47			6		0	0	1	0	0
C10orf113	387638	broad.mit.edu	37	10	21414945	21414945	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr10:21414945C>T	uc001iqm.3	-	1	326	c.275G>A	c.(274-276)cGg>cAg	p.R92Q	NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron|C10orf113_uc021pnv.1_3'UTR	NM_001010896	NP_001010896	Q5VZT2	CJ113_HUMAN	Homo sapiens chromosome 10 open reading frame 113 (C10orf113), transcript variant 1, mRNA.	92										endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1)	7						GCTGACTCTCCGCAGCCACCT	0.617000														69			18		0	0	1	0	0
SIGLEC6	946	broad.mit.edu	37	19	52034741	52034741	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:52034741C>T	uc002pwy.3	-	1	308	c.100G>A	c.(100-102)Gag>Aag	p.E34K	SIGLEC6_uc002pwz.3_Missense_Mutation_p.E34K|SIGLEC6_uc010ydb.2_Intron|SIGLEC6_uc010ydc.2_Missense_Mutation_p.E34K|SIGLEC6_uc002pxa.3_Missense_Mutation_p.E34K|SIGLEC6_uc010eoz.2_Missense_Mutation_p.E34K|SIGLEC6_uc010epa.2_Missense_Mutation_p.E23K|SIGLEC6_uc010epb.2_Intron	NM_001245	NP_001236	O43699	SIGL6_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.	34	Ig-like V-type.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		TCTGGCCCCTCCAGCTGGAAT	0.642000														56			13		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3263642	3263642	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:3263642C>T	uc022aqr.1	-	14	2563	c.2173G>A	c.(2173-2175)Gat>Aat	p.D725N	CSMD1_uc011kwj.2_Missense_Mutation_p.D118N	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	726	Sushi 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)		ACAAAGCCATCATCACAGTGG	0.527000														26			7		0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78749103	78749103	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:78749103G>A	uc004akc.2	+	9	1825	c.1287G>A	c.(1285-1287)tgG>tgA	p.W429*	PCSK5_uc004ajy.2_Nonsense_Mutation_p.W429*|PCSK5_uc004ajz.3_Nonsense_Mutation_p.W429*|PCSK5_uc004aka.3_Intron	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	429	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CTAATGACTGGAAAACCAATG	0.423000														32			7		0	0	1	0	0
ABCC10	89845	broad.mit.edu	37	6	43400951	43400951	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:43400951C>T	uc003ouy.1	+	2	1448	c.1233C>T	c.(1231-1233)acC>acT	p.T411T	ABCC10_uc003ouz.1_Silent_p.T368T|ABCC10_uc010jyo.1_5'Flank	NM_001198934	NP_001185863	Q5T3U5	MRP7_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA.	411	ABC transmembrane type-1 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TGGCCATCACCCTCTACCTGC	0.592000														46			9		0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98508852	98508852	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:98508852C>T	uc003upp.3	+	16	2174	c.1965C>T	c.(1963-1965)gtC>gtT	p.V655V	TRRAP_uc011kis.2_Silent_p.V655V|TRRAP_uc003upr.3_Silent_p.V347V	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	655					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AAACTACGGTCCCTTATATGG	0.358000														58			10		0	0	1	0	0
PTPN21	11099	broad.mit.edu	37	14	88938715	88938716	+	Missense_Mutation	DNP	GT	AA	AA			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:88938715_88938716GT>AA	uc001xwv.4	-	14	3074_3075	c.2743_2744AC>TT	c.(2743-2745)aca>TTa	p.T915L	PTPN21_uc010twc.2_Missense_Mutation_p.T711L	NM_007039	NP_008970	Q16825	PTN21_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 21 (PTPN21), mRNA.	915	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GAGTCGTGCTGTTGAGCACTCC	0.381000														53			6		0	0	1	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217651	150217651	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:150217651G>A	uc003whk.3	+	1	719	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K	GIMAP7_uc022apu.1_Missense_Mutation_p.E197K	NM_153236	NP_694968	Q8NHV1	GIMA7_HUMAN	Homo sapiens GTPase, IMAP family member 7 (GIMAP7), mRNA.	197							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCAGTGCAACGAAGGGGCTTA	0.443000														86			9		0	0	1	0	0
FAM71E1	112703	broad.mit.edu	37	19	50978600	50978600	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:50978600C>T	uc002psh.3	-	2	879	c.521G>A	c.(520-522)gGa>gAa	p.G174E	FAM71E1_uc002psg.3_Missense_Mutation_p.G158E|FAM71E1_uc002psi.3_Non-coding_Transcript|C19orf63_uc021uyd.1_5'Flank|C19orf63_uc002psk.3_5'Flank|C19orf63_uc002psl.3_5'Flank	NM_138411	NP_612420	Q6IPT2	F71E1_HUMAN	Homo sapiens family with sequence similarity 71, member E1 (FAM71E1), mRNA.	174										breast(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026)		TTGCAGGTGTCCGTTCTCCTT	0.652000														33			11		0	0	1	0	0
ANKRD27	84079	broad.mit.edu	37	19	33098694	33098694	+	Silent	SNP	G	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:33098694G>T	uc002ntn.1	-	22	2376	c.2220C>A	c.(2218-2220)acC>acA	p.T740T		NM_032139	NP_115515	Q96NW4	ANR27_HUMAN	Homo sapiens ankyrin repeat domain 27 (VPS9 domain) (ANKRD27), mRNA.	740					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					CGTCCTGGCTGGTCACGTTCA	0.632000														20			4		1	1	1	1	0
ZMIZ2	83637	broad.mit.edu	37	7	44805791	44805791	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:44805791C>T	uc003tlr.3	+	16	2394	c.2271C>T	c.(2269-2271)ttC>ttT	p.F757F	ZMIZ2_uc003tlq.3_Silent_p.F699F|ZMIZ2_uc003tls.3_Silent_p.F731F|ZMIZ2_uc003tlt.3_Silent_p.F380F|ZMIZ2_uc010kyj.3_Silent_p.F279F|ZMIZ2_uc003tlu.3_Silent_p.F38F|ZMIZ2_uc010kyk.2_5'Flank	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	Homo sapiens zinc finger, MIZ-type containing 2 (ZMIZ2), transcript variant 1, mRNA.	757	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTGGAACTTTCCCTGAGTCCT	0.662000														79			6		0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57642615	57642615	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:57642615G>A	uc002qny.3	+	3	2928	c.2572G>A	c.(2572-2574)Gat>Aat	p.D858N	USP29_uc021vci.1_Missense_Mutation_p.D858N	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	858					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.N857N(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CACATACAACGATCTATGTGT	0.453000														29			8		0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59157987	59157987	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr18:59157987C>T	uc010dps.1	+	0	353	c.201C>T	c.(199-201)ttC>ttT	p.F67F	CDH20_uc002lif.2_Silent_p.F61F	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	Homo sapiens cadherin 20, type 2 (CDH20), mRNA.	67	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.F67F(2)		breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				ACCAGTTTTTCGTTCTGGAAG	0.478000														109			30		0	0	1	0	0
RPH3A	22895	broad.mit.edu	37	12	113307579	113307579	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:113307579G>A	uc010syl.2	+	8	988	c.626G>A	c.(625-627)aGg>aAg	p.R209K	RPH3A_uc001ttz.3_Missense_Mutation_p.R209K|RPH3A_uc001tty.3_Missense_Mutation_p.R205K|RPH3A_uc009zwe.1_Missense_Mutation_p.R205K|RPH3A_uc010sym.2_Missense_Mutation_p.R160K|RPH3A_uc001tua.3_5'UTR	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN	Homo sapiens rabphilin 3A homolog (mouse) (RPH3A), transcript variant 1, mRNA.	209	Pro-rich.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		AGTGAAGATAGGAGGGGCCCG	0.463000														114			27		0	0	1	0	0
OR4E2	26686	broad.mit.edu	37	14	22134093	22134093	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:22134093C>T	uc010tmd.2	+	0	797	c.797C>T	c.(796-798)tCc>tTc	p.S266F		NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily E, member 2 (OR4E2), mRNA.	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		ACCAGCTTCTCCATTGACAAG	0.507000														29			7		0	0	1	0	0
FAM214B	80256	broad.mit.edu	37	9	35108110	35108110	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:35108110G>A	uc003zwl.3	-	2	487	c.162C>T	c.(160-162)tcC>tcT	p.S54S	FAM214B_uc003zwm.3_Silent_p.S54S|FAM214B_uc003zwn.3_Intron|FAM214B_uc003zwo.3_Silent_p.S54S|FAM214B_uc003zwp.1_Silent_p.S54S|FAM214B_uc010mkk.1_Intron|FAM214B_uc022bgj.1_Silent_p.S54S	NM_025182	NP_079458	Q7L5A3	K1539_HUMAN	Homo sapiens family with sequence similarity 214, member B (FAM214B), mRNA.	54						nucleus											CAGCCGGAGGGGAAAAGATGG	0.672000														26			3		0	0	1	0	0
ERAP2	64167	broad.mit.edu	37	5	96232463	96232463	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:96232463G>A	uc003kmq.3	+	8	2109	c.1399G>A	c.(1399-1401)Gat>Aat	p.D467N	ERAP1_uc003kmo.1_Intron|ERAP2_uc003kmt.3_Missense_Mutation_p.D467N|ERAP2_uc003kmr.3_Non-coding_Transcript|ERAP2_uc003kms.3_Missense_Mutation_p.D416N|ERAP2_uc003kmu.3_Non-coding_Transcript	NM_022350	NP_071745	Q6P179	ERAP2_HUMAN	Homo sapiens endoplasmic reticulum aminopeptidase 2 (ERAP2), transcript variant 1, mRNA.	467					antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		TATGCTCAAGGATTTTCTGGG	0.328000														51			11		0	0	1	0	0
CDC34	997	broad.mit.edu	37	19	535890	535890	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:535890C>T	uc002lov.3	+	1	430	c.231C>T	c.(229-231)ttC>ttT	p.F77F		NM_004359	NP_004350	P49427	UB2R1_HUMAN	Homo sapiens cell division cycle 34 homolog (S. cerevisiae) (CDC34), mRNA.	77					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination	cytoplasm|nucleus	ATP binding|protein binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(1)	2		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTTTCGGTTCCTGACCAAGA	0.642000														463			83		0	0	1	0	0
HTR3B	9177	broad.mit.edu	37	11	113816737	113816737	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:113816737G>A	uc001pok.3	+	8	1342	c.1204G>A	c.(1204-1206)Gag>Aag	p.E402K	HTR3B_uc001pol.3_Missense_Mutation_p.E391K	NM_006028	NP_006019	O95264	5HT3B_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3B (HTR3B), mRNA.	402	HA-stretch.				synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity	p.E402E(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		AGACCAACAGGAGGCAGAGTG	0.557000														52			14		0	0	1	0	0
EBF1	1879	broad.mit.edu	37	5	158250200	158250200	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:158250200G>A	uc010jip.3	-	7	1064	c.762C>T	c.(760-762)ccC>ccT	p.P254P	EBF1_uc011ddw.2_Silent_p.P121P|EBF1_uc011ddx.2_Silent_p.P254P|EBF1_uc003lxl.4_Intron	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	Homo sapiens early B-cell factor 1 (EBF1), mRNA.	254					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCAGATAAGAGGGCGTACCTT	0.468000			T	HMGA2	lipoma									35			5		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884687	228884687	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:228884687C>T	uc002vpq.2	-	6	930	c.883G>A	c.(883-885)Gcc>Acc	p.A295T	SPHKAP_uc002vpp.2_Missense_Mutation_p.A295T|SPHKAP_uc010zlx.1_Missense_Mutation_p.A295T	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	295						cytoplasm	protein binding	p.T294T(1)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTCTGCAAGGCTGTGTTCTTT	0.418000														217			38		0	0	1	0	0
CHRNB3	1142	broad.mit.edu	37	8	42586860	42586860	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:42586860C>T	uc003xpi.1	+	4	538	c.410C>T	c.(409-411)tCa>tTa	p.S137L		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 3 (CHRNB3), mRNA.	137					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			ATCGTGAAATCAAACGGAACT	0.542000														52			11		0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31570422	31570422	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:31570422G>A	uc002rnv.1	-	28	3321	c.3242C>T	c.(3241-3243)tCt>tTt	p.S1081F		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	1081					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	p.A1080V(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	AGCGCTGACAGAGGCAGCCGT	0.582000														85			36		0	0	1	0	0
RBMS3	27303	broad.mit.edu	37	3	29925699	29925699	+	Splice_Site	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:29925699G>A	uc003cel.3	+	8	1161	c.791_splice	c.e8+1	p.G264_splice	RBMS3_uc010hfq.3_Splice_Site_p.G277_splice|RBMS3_uc003cek.3_Splice_Site_p.G264_splice|RBMS3_uc010hfr.3_Splice_Site_p.G264_splice|RBMS3_uc003cem.3_Splice_Site_p.G263_splice	NM_001003793	NP_001003793	Q6XE24	RBMS3_HUMAN	Homo sapiens RNA binding motif, single stranded interacting protein 3 (RBMS3), transcript variant 1, mRNA.	264						cytoplasm	RNA binding|nucleotide binding			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				ATACAGAATGGGTAAGTAGAT	0.343000														49			7		0	0	1	0	0
ZNF304	57343	broad.mit.edu	37	19	57868608	57868608	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:57868608C>T	uc010etw.3	+	3	1900	c.1512C>T	c.(1510-1512)ggC>ggT	p.G504G	ZNF304_uc010ygw.2_Silent_p.G457G|ZNF304_uc010etx.3_Silent_p.G415G	NM_020657	NP_065708	Q9HCX3	ZN304_HUMAN	Homo sapiens zinc finger protein 304 (ZNF304), mRNA.	457					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		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;0.0265)		AGGCCTTTGGCTGCAAAGACA	0.478000														113			33		0	0	1	0	0
OR2A2	442361	broad.mit.edu	37	7	143807206	143807206	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:143807206C>T	uc011ktz.2	+	0	531	c.531C>T	c.(529-531)ttC>ttT	p.F177F		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 2 (OR2A2), mRNA.	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					ACCACCTCTTCTGTGAAATTC	0.512000														116			23		0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72202026	72202026	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:72202026G>A	uc001xms.3	+	19	5465	c.5104G>A	c.(5104-5106)Gaa>Aaa	p.E1702K	SIPA1L1_uc001xmt.3_Missense_Mutation_p.E1681K|SIPA1L1_uc001xmu.3_Missense_Mutation_p.E1681K|SIPA1L1_uc001xmv.3_Missense_Mutation_p.E1702K|SIPA1L1_uc010ttm.2_Missense_Mutation_p.E1156K	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	1702					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TGCTAGTGATGAAAACCATCG	0.498000														184			28		0	0	1	0	0
XRCC4	7518	broad.mit.edu	37	5	82400778	82400778	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:82400778C>G	uc003kib.3	+	1	168	c.40C>G	c.(40-42)Ccc>Gcc	p.P14A	XRCC4_uc003kia.1_Missense_Mutation_p.P14A|XRCC4_uc003kic.3_Missense_Mutation_p.P14A|XRCC4_uc003kid.3_Missense_Mutation_p.P14A|XRCC4_uc003kie.3_Missense_Mutation_p.P14A	NM_022406	NP_071801	Q13426	XRCC4_HUMAN	Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 4 (XRCC4), transcript variant 2, mRNA.	14					DNA ligation involved in DNA repair|double-strand break repair via nonhomologous end joining|initiation of viral infection|positive regulation of ligase activity|provirus integration|response to X-ray	DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|cytosol|nucleoplasm	DNA binding|protein C-terminus binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(2)|skin(3)	17		Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034)		OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28)		TGTTTCTGAACCCAGTATAAC	0.343000								Non-homologous end-joining						69			11		0	0	1	0	0
PID1	55022	broad.mit.edu	37	2	229890376	229890376	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:229890376G>A	uc002vpr.4	-	2	763	c.725C>T	c.(724-726)tCc>tTc	p.S242F	PID1_uc002vps.4_Missense_Mutation_p.S240F|PID1_uc002vpt.4_Missense_Mutation_p.S209F|PID1_uc002vpu.4_Missense_Mutation_p.S160F	NM_001100818	NP_001094288	Q7Z2X4	PCLI1_HUMAN	Homo sapiens phosphotyrosine interaction domain containing 1 (PID1), transcript variant 2, mRNA.	242	PID.					cytoplasm				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		CAATTCCTGGGAAACCTCTTC	0.512000														83			34		0	0	1	0	0
ZBTB22	9278	broad.mit.edu	37	6	33284382	33284382	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:33284382G>A	uc003oeb.3	-	1	464	c.312C>T	c.(310-312)gcC>gcT	p.A104A	TAPBP_uc003odx.2_5'Flank|TAPBP_uc010jut.2_5'Flank|TAPBP_uc003odz.3_5'Flank|TAPBP_uc003ody.3_5'Flank|TAPBP_uc011drc.2_5'Flank|ZBTB22_uc010juu.3_Silent_p.A104A|ZBTB22_uc021ywm.1_Silent_p.A104A	NM_005453	NP_005444	O15209	ZBT22_HUMAN	Homo sapiens zinc finger and BTB domain containing 22 (ZBTB22), transcript variant 1, mRNA.	104	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A104A(2)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						CAGTCTCAAAGGCGCCTGGGT	0.577000														150			34		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2830821	2830821	+	Splice_Site	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:2830821C>T	uc022aqr.1	-	57	9131	c.8741_splice	c.e57-1	p.G2914_splice	CSMD1_uc011kwj.2_Splice_Site_p.G2244_splice|CSMD1_uc010lrg.3_Splice_Site_p.G925_splice	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2915	Sushi 21.					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)		AGGATTATTTCCTATTGAAAA	0.413000														192			49		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140712307	140712307	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:140712307G>A	uc003lji.2	+	0	2056	c.2056G>A	c.(2056-2058)Gat>Aat	p.D686N	PCDHGC5_uc011dan.2_Missense_Mutation_p.D686N	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	687					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D686N(2)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAACCCAACGATTCGGACCT	0.692000														201			58		0	0	1	0	0
SRGAP1	57522	broad.mit.edu	37	12	64521469	64521469	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:64521469C>T	uc010ssp.1	+	19	2561	c.2505C>T	c.(2503-2505)tcC>tcT	p.S835S	SRGAP1_uc001srv.2_Silent_p.S772S	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 1 (SRGAP1), mRNA.	835					axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		ACATGAACTCCCCGACAGACC	0.572000														48			7		0	0	1	0	0
KIAA0232	9778	broad.mit.edu	37	4	6863241	6863241	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:6863241C>T	uc003gjr.4	+	6	1595	c.1132C>T	c.(1132-1134)Cct>Tct	p.P378S	KIAA0232_uc003gjq.4_Missense_Mutation_p.P378S	NM_014743	NP_055558	Q92628	K0232_HUMAN	Homo sapiens KIAA0232 (KIAA0232), transcript variant 1, mRNA.	378							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						GAGAAAAGATCCTGGGAGCAC	0.443000														48			14		0	0	1	0	0
CHRD	8646	broad.mit.edu	37	3	184100457	184100457	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:184100457C>T	uc003fov.3	+	7	1123	c.877C>T	c.(877-879)Cca>Tca	p.P293S	CHRD_uc003fow.3_5'UTR|CHRD_uc003fox.3_Missense_Mutation_p.P293S|CHRD_uc003foy.3_5'UTR|CHRD_uc010hyc.3_5'UTR|CHRD_uc011brr.2_5'UTR	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	Homo sapiens chordin (CHRD), mRNA.	293	CHRD 2.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGAAGGCCCCCCACAGCAGGG	0.587000														139			28		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38906603	38906603	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:38906603G>A	uc021yzh.1	+	78	11955	c.11846G>A	c.(11845-11847)aGa>aAa	p.R3949K	DNAH8_uc003ooe.2_Missense_Mutation_p.R3732K|DNAH8_uc003oog.1_Missense_Mutation_p.R181K|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.									p.R3949*(1)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CCTCAAAAGAGAATTACAAAT	0.348000														29			6		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21049142	21049142	+	Missense_Mutation	SNP	G	A	A	rs140821281	byFrequency	TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:21049142G>A	uc010vbe.2	-	33	4891	c.4891C>T	c.(4891-4893)Cgg>Tgg	p.R1631W		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1631					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGCAATGCCCGGAGCAGCAGG	0.522000														32			9		0	0	1	0	0
FSCB	84075	broad.mit.edu	37	14	44976126	44976126	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:44976126G>A	uc001wvn.3	-	0	374	c.65C>T	c.(64-66)tCa>tTa	p.S22L		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	Homo sapiens fibrous sheath CABYR binding protein (FSCB), mRNA.	22						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		GGGGCTAGATGATTTTGGTAT	0.418000														150			48		0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33487839	33487839	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:33487839C>T	uc021vft.1	+	13	2492	c.2469C>T	c.(2467-2469)ccC>ccT	p.P823P	LTBP1_uc002rou.3_Silent_p.P497P|LTBP1_uc002rov.3_Silent_p.P444P|LTBP1_uc010ymz.2_Silent_p.P497P|LTBP1_uc010yna.2_Silent_p.P444P	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	823					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	p.P823H(1)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CTGGTCAACCCCAGCTGTCTC	0.383000														36			38		0	0	1	0	0
KCNS3	3790	broad.mit.edu	37	2	18113148	18113148	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:18113148C>T	uc021veh.1	+	0	873	c.873C>T	c.(871-873)atC>atT	p.I291I	KCNS3_uc002rcv.3_Silent_p.I291I|KCNS3_uc002rcw.3_Silent_p.I291I	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 (KCNS3), mRNA.	291					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TGGTCCAGATCCTACGGCTTA	0.488000														91			28		0	0	1	0	0
CD1B	910	broad.mit.edu	37	1	158300834	158300834	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:158300834G>A	uc001frx.3	-	1	188	c.80C>T	c.(79-81)tCc>tTc	p.S27F	CD1B_uc001frw.3_Missense_Mutation_p.S27F|CD1B_uc010pic.1_Missense_Mutation_p.S27F	NM_001764	NP_001755	P29016	CD1B_HUMAN	Homo sapiens CD1b molecule (CD1B), mRNA.	27					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					AACATGAAAGGAGGTCGGCCC	0.463000														212			31		0	0	1	0	0
OR5H15	403274	broad.mit.edu	37	3	97887907	97887907	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:97887907C>T	uc011bgu.2	+	0	364	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 15 (OR5H15), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						GGCATATGATCGCTATGTAGC	0.378000														80			14		0	0	1	0	0
ST8SIA4	7903	broad.mit.edu	37	5	100231369	100231369	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:100231369G>A	uc003knk.3	-	1	562	c.234C>T	c.(232-234)gtC>gtT	p.V78V	ST8SIA4_uc003knl.3_Silent_p.V78V	NM_005668	NP_005659	Q92187	SIA8D_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 (ST8SIA4), transcript variant 1, mRNA.	78					N-glycan processing|axon guidance	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		TTATCTCTAGGACCAAAGAGG	0.378000														75			13		0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79318766	79318766	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:79318766C>T	uc010mpk.3	-	8	7887	c.7763G>A	c.(7762-7764)gGa>gAa	p.G2588E	PRUNE2_uc004akj.4_Missense_Mutation_p.G41E|PRUNE2_uc022big.1_Non-coding_Transcript|PRUNE2_uc010mpl.1_Missense_Mutation_p.G41E|PRUNE2_uc022bih.1_Missense_Mutation_p.G2410E	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	2588					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TAACTGAGTTCCCTGCAGCCC	0.428000														66			13		0	0	1	0	0
NCOR2	9612	broad.mit.edu	37	12	124824854	124824854	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:124824854G>A	uc021rga.1	-	35	5612	c.5495C>T	c.(5494-5496)cCc>cTc	p.P1832L	NCOR2_uc021rgb.1_Missense_Mutation_p.P1816L|NCOR2_uc010tbb.2_Missense_Mutation_p.P1825L|NCOR2_uc010tbc.2_Missense_Mutation_p.P1815L|NCOR2_uc021rgc.1_Missense_Mutation_p.P1815L|NCOR2_uc010tba.2_Missense_Mutation_p.P1833L|NCOR2_uc010tax.2_5'Flank	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	1833					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TCTCCAGATGGGTGCGTGCTC	0.677000														23			10		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141731583	141731583	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:141731583G>A	uc003vwy.3	+	12	1628	c.1574G>A	c.(1573-1575)gGa>gAa	p.G525E		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	525	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GAGTTTGATGGAATCTGGATT	0.378000														64			9		0	0	1	0	0
PCF11	51585	broad.mit.edu	37	11	82880097	82880097	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:82880097C>T	uc001ozx.4	+	7	3065	c.2720C>T	c.(2719-2721)cCc>cTc	p.P907L	PCF11_uc010rsu.1_Missense_Mutation_p.P1038L	NM_015885	NP_056969	O94913	PCF11_HUMAN	Homo sapiens PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae) (PCF11), mRNA.	907	Gly-rich.				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						TTTGATAATCCCCGAGGTCAG	0.547000														48			5		0	0	1	0	0
TAS2R39	259285	broad.mit.edu	37	7	142880680	142880680	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:142880680G>A	uc011ksw.2	+	0	169	c.169G>A	c.(169-171)Gct>Act	p.A57T		NM_176881	NP_795362	P59534	T2R39_HUMAN	Homo sapiens taste receptor, type 2, member 39 (TAS2R39), mRNA.	57					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					TTTCATCATGGCTATACATGC	0.413000														68			11		0	0	1	0	0
FBLN5	10516	broad.mit.edu	37	14	92349320	92349320	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:92349320C>T	uc010aue.3	-	8	1436	c.963G>A	c.(961-963)ctG>ctA	p.L321L	FBLN5_uc010aud.3_Silent_p.L285L|FBLN5_uc001xzx.4_Silent_p.L280L	NM_006329	NP_006320	Q9UBX5	FBLN5_HUMAN	Homo sapiens fibulin 5 (FBLN5), mRNA.	280	EGF-like 6; calcium-binding (Potential).				cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				GGTTGTCATCCAGCAGGATGT	0.572000														67			8		0	0	1	0	0
C3orf32	51066	broad.mit.edu	37	3	8667946	8667946	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:8667946G>A	uc011atg.2	-	8	776	c.736C>T	c.(736-738)Ctg>Ttg	p.L246L	C3orf32_uc003bqz.3_Silent_p.L224L|C3orf32_uc003bqt.3_Silent_p.L173L|C3orf32_uc003bqu.3_Silent_p.L224L|C3orf32_uc003bqv.3_Silent_p.L173L|C3orf32_uc003bqx.3_Non-coding_Transcript|C3orf32_uc003bqy.3_Silent_p.L224L	NM_015931	NP_057015	Q9Y2M2	CC032_HUMAN	Homo sapiens chromosome 3 open reading frame 32 (C3orf32), mRNA.	224										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	14						AAGTGCAACAGCTTCTTCTCC	0.567000														235			101		0	0	1	0	0
CDC25A	993	broad.mit.edu	37	3	48219361	48219361	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:48219361C>T	uc003csh.1	-	6	1031	c.667G>A	c.(667-669)Gat>Aat	p.D223N	CDC25A_uc003csi.1_Missense_Mutation_p.D183N|CDC25A_uc021wxk.1_Missense_Mutation_p.D182N	NM_001789	NP_001780	P30304	MPIP1_HUMAN	Homo sapiens cell division cycle 25 homolog A (S. pombe) (CDC25A), transcript variant 1, mRNA.	223					DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|mitosis|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		TTCTCTCCATCGAGAAGGTCC	0.443000														209			41		0	0	1	0	0
KCNC3	3748	broad.mit.edu	37	19	50826886	50826886	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:50826886G>A	uc002pru.1	-	1	1619	c.1324C>T	c.(1324-1326)Cgc>Tgc	p.R442C	KCNC3_uc002prt.1_Missense_Mutation_p.R78C	NM_004977	NP_004968	Q14003	KCNC3_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 3 (KCNC3), mRNA.	442					cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R442C(2)|p.R442H(1)		endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)		GTGCTGGCGCGGAGCGTGTGT	0.642000														67			17		0	0	1	0	0
DEFB1	1672	broad.mit.edu	37	8	6728318	6728318	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:6728318C>T	uc003wqs.2	-	1	242	c.92G>A	c.(91-93)aGa>aAa	p.R31K		NM_005218	NP_005209	P60022	DEFB1_HUMAN	Homo sapiens defensin, beta 1 (DEFB1), mRNA.	31					G-protein coupled receptor protein signaling pathway|chemotaxis|defense response to bacterium|innate immune response	extracellular region				lung(1)	1			STAD - Stomach adenocarcinoma(24;0.0984)	COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.128)		ATGATCAGATCTGTGGCCAAG	0.488000														48			11		0	0	1	0	0
MCCC1	56922	broad.mit.edu	37	3	182759359	182759359	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:182759359C>T	uc003fle.3	-	10	1400	c.1263G>A	c.(1261-1263)cgG>cgA	p.R421R	MCCC1_uc010hxi.3_Non-coding_Transcript|MCCC1_uc011bqo.2_Non-coding_Transcript|MCCC1_uc003flf.3_Silent_p.R304R|MCCC1_uc003flg.3_Silent_p.R312R|MCCC1_uc011bqp.1_Silent_p.R374R	NM_020166	NP_064551	Q96RQ3	MCCA_HUMAN	Homo sapiens methylcrotonoyl-CoA carboxylase 1 (alpha) (MCCC1), nuclear gene encoding mitochondrial protein, mRNA.	421	Biotin carboxylation.				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity	p.R421R(2)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	CTTTACCTTGCCGTACTCCAG	0.418000														76			9		0	0	1	0	0
EMB	133418	broad.mit.edu	37	5	49699201	49699201	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:49699201C>T	uc003jom.3	-	5	937	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K	EMB_uc010ivq.3_Missense_Mutation_p.E24K|EMB_uc003jol.3_Missense_Mutation_p.E161K|EMB_uc011cpy.2_Missense_Mutation_p.E180K	NM_198449	NP_940851	Q6PCB8	EMB_HUMAN	Homo sapiens embigin (EMB), mRNA.	230	Ig-like V-type 2.					integral to membrane				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				TCCCCATCTTCCTCCAAAAGT	0.423000														26			7		0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44561226	44561226	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr18:44561226G>A	uc002lcr.1	-	0	763	c.410C>T	c.(409-411)cCg>cTg	p.P137L	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.	137					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CTGTTGCCCCGGAGGTGTTCT	0.642000														123			30		0	0	1	0	0
CLEC17A	388512	broad.mit.edu	37	19	14705449	14705449	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:14705449G>A	uc010dzn.2	+	5	393	c.316G>A	c.(316-318)Gaa>Aaa	p.E106K	CLEC17A_uc010dzo.2_Missense_Mutation_p.E106K|CLEC17A_uc002mzh.2_Missense_Mutation_p.E89K|CLEC17A_uc010xnt.2_Non-coding_Transcript|CLEC17A_uc010xnu.2_Missense_Mutation_p.E106K	NM_001204118	NP_001191047	Q6ZS10	CL17A_HUMAN	Homo sapiens C-type lectin domain family 17, member A (CLEC17A), transcript variant 1, mRNA.	106						cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity										CTCAGCAAAGGAAACAGAGAA	0.582000														45			7		0	0	1	0	0
FABP2	2169	broad.mit.edu	37	4	120241838	120241838	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:120241838C>T	uc003icw.3	-	1	286	c.227G>A	c.(226-228)gGa>gAa	p.G76E		NM_000134	NP_000125	P12104	FABPI_HUMAN	Homo sapiens fatty acid binding protein 2, intestinal (FABP2), mRNA.	76							fatty acid binding			breast(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1)	8						GAGTTCAGTTCCGTCTGCTAG	0.318000														37			7		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141797419	141797419	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:141797419C>T	uc003vwy.3	+	42	5085	c.5031C>T	c.(5029-5031)ttC>ttT	p.F1677F		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1677	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTGCATATTTCCCTAGAGCCC	0.393000														72			12		0	0	1	0	0
OR2L2	26246	broad.mit.edu	37	1	248202484	248202484	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:248202484G>A	uc001idw.3	+	0	1011	c.915G>A	c.(913-915)caG>caA	p.Q305Q	OR2L13_uc001ids.3_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 2 (OR2L2), mRNA.	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			AAGTGATTCAGAAAATCTTCT	0.433000														82			20		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140183128	140183128	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:140183128C>T	uc003lhf.2	+	0	2346	c.2346C>T	c.(2344-2346)agC>agT	p.S782S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Silent_p.S782S	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	757					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCCAATTAGCCGGGATAGAG	0.473000														103			18		0	0	1	0	0
ZNF783	100289678	broad.mit.edu	37	7	148964272	148964272	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:148964272G>A	uc011kuo.2	+	3	795	c.632G>A	c.(631-633)gGg>gAg	p.G211E	AF035281_uc003wfr.4_Non-coding_Transcript	NM_001195220	NP_001182149	C9J9J2	C9J9J2_HUMAN	Homo sapiens zinc finger family member 783 (ZNF783), mRNA.	211					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			CAGGAGAAGGGGAATGAAGTA	0.572000														39			6		0	0	1	0	0
MOG	4340	broad.mit.edu	37	6	29627396	29627396	+	Missense_Mutation	SNP	G	A	A	rs139424758	by1000genomes	TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:29627396G>A	uc003nnf.3	+	1	618	c.389G>A	c.(388-390)cGa>cAa	p.R130Q	MOG_uc003qzk.2_Missense_Mutation_p.R130Q|MOG_uc010kle.2_Intron|MOG_uc010klf.2_Intron|MOG_uc003nmy.2_Missense_Mutation_p.R130Q|MOG_uc003nna.3_Intron|MOG_uc011dlt.2_Missense_Mutation_p.R60Q|MOG_uc011dlv.2_Intron|MOG_uc011dlu.2_Intron|MOG_uc003nne.3_Missense_Mutation_p.R130Q|MOG_uc003nng.3_Missense_Mutation_p.R130Q|MOG_uc003nni.3_Missense_Mutation_p.R130Q|MOG_uc003nnh.3_Missense_Mutation_p.R130Q|MOG_uc003nnj.3_Missense_Mutation_p.R130Q|MOG_uc003nnk.3_Missense_Mutation_p.R130Q	NM_206809	NP_996532	Q16653	MOG_HUMAN	Homo sapiens myelin oligodendrocyte glycoprotein (MOG), transcript variant alpha1, mRNA.	130	Ig-like V-type.				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						TGCTTCTTCCGAGATCATTCT	0.448000														38			10		0	0	1	0	0
SULT1A2	6799	broad.mit.edu	37	16	28603669	28603669	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:28603669C>T	uc002dqg.2	-	6	1041	c.690G>A	c.(688-690)aaG>aaA	p.K230K	NPIPL1_uc010vct.2_Intron|SULT1A2_uc002dqh.2_Silent_p.K230K	NM_177528	NP_803564	P50226	ST1A2_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2 (SULT1A2), transcript variant 2, mRNA.	230					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						TCTTCATCTCCTTGAACGACG	0.557000														135			34		0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98574593	98574593	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:98574593C>T	uc003upp.3	+	54	8467	c.8258C>T	c.(8257-8259)tCc>tTc	p.S2753F	TRRAP_uc011kis.2_Missense_Mutation_p.S2735F|TRRAP_uc003upr.3_Missense_Mutation_p.S2452F	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	2753	FAT.				histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GAGCTTTACTCCCTGTTACAA	0.483000														128			9		0	0	1	0	0
GPR85	54329	broad.mit.edu	37	7	112724614	112724614	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:112724614G>A	uc010ljv.2	-	1	680	c.163C>T	c.(163-165)Cct>Tct	p.P55S	GPR85_uc003vgp.1_Missense_Mutation_p.P55S|GPR85_uc003vgq.2_Missense_Mutation_p.P55S|GPR85_uc010ljw.1_Missense_Mutation_p.P55S|GPR85_uc022akd.1_Missense_Mutation_p.P55S	NM_001146266	NP_061843	P60893	GPR85_HUMAN	Homo sapiens G protein-coupled receptor 85 (GPR85), transcript variant 3, mRNA.	55						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						AAGTAGTAAGGTGCTCTATGC	0.428000														132			13		0	0	1	0	0
OR2J3	442186	broad.mit.edu	37	6	29080470	29080470	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:29080470G>A	uc011dll.2	+	0	803	c.803G>A	c.(802-804)gGa>gAa	p.G268E		NM_001005216	NP_001005216	O76001	OR2J3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 3 (OR2J3), mRNA.	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						CCACCATCAGGAAATTCTCAA	0.428000														51			20		0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146471471	146471471	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:146471471G>A	uc003weu.2	+	1	722	c.206G>A	c.(205-207)gGa>gAa	p.G69E		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	69	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.G69E(2)|p.R68I(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AACAAGAGAGGAGGTAAGCCA	0.393000										HNSCC(39;0.1)				29			3		0	0	1	0	0
CADM3	57863	broad.mit.edu	37	1	159161803	159161803	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:159161803G>A	uc001ftl.2	+	1	345	c.166G>A	c.(166-168)Gag>Aag	p.E56K	CADM3_uc009wsx.1_Missense_Mutation_p.E90K|CADM3_uc009wsy.1_Missense_Mutation_p.E56K|CADM3_uc001ftk.2_Missense_Mutation_p.E90K	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN	Homo sapiens cell adhesion molecule 3 (CADM3), transcript variant 2, mRNA.	56	Ig-like V-type.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					GAAAGATCACGAGGACTCATC	0.507000														46			8		0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33579246	33579246	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:33579246C>T	uc001rll.1	-	1	633	c.336G>A	c.(334-336)gaG>gaA	p.E112E	SYT10_uc009zju.1_5'UTR	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	Homo sapiens synaptotagmin X (SYT10), mRNA.	112						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TTTCTTTTTTCTCTTCAGTCT	0.428000														48			8		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22591996	22591996	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:22591996G>A	uc001wdd.2	+	1	228	c.81G>A	c.(79-81)atG>atA	p.M27I	TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc010ajj.1_Missense_Mutation_p.M27I|TCRA_uc001wde.1_Missense_Mutation_p.M1I|TCRA_uc010aji.1_Missense_Mutation_p.M27I					Homo sapiens TRA mRNA for T cell receptor alpha chain, partial cds, allele:TRAV19*01+TRAJ53*01.																		CCCCCTCCATGGATTGCGCTG	0.463000														89			24		0	0	1	0	0
OR6Q1	219952	broad.mit.edu	37	11	57799099	57799099	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:57799099C>T	uc010rjz.2	+	0	675	c.675C>T	c.(673-675)atC>atT	p.I225I	OR9Q1_uc001nmj.3_Intron	NM_001005186	NP_001005186	Q8NGQ2	OR6Q1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily Q, member 1 (OR6Q1), mRNA.	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				ATGGCAACATCGTCTGGACAC	0.557000														63			19		0	0	1	0	0
PSG3	5671	broad.mit.edu	37	19	43244515	43244515	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:43244515G>A	uc002oue.3	-	0	154	c.22C>T	c.(22-24)Ccc>Tcc	p.P8S	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron	NM_021016	NP_066296	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 3 (PSG3), mRNA.	8					defense response|female pregnancy	extracellular region		p.P7fs*19(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TGTGTGCAGGGAGGGGCTGAG	0.607000														203			39		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10089286	10089286	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:10089286C>T	uc002mmq.1	-	40	3068	c.2982G>A	c.(2980-2982)aaG>aaA	p.K994K		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	994	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CCTTATCACCCTTTAAGCCAG	0.577000														45			4		0	0	1	0	0
TAS2R16	50833	broad.mit.edu	37	7	122635653	122635653	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:122635653G>A	uc003vkl.1	-	0	102	c.36C>T	c.(34-36)atC>atT	p.I12I		NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN	Homo sapiens taste receptor, type 2, member 16 (TAS2R16), mRNA.	12					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GCACATAGATGATCATGAAGA	0.458000														46			6		0	0	1	0	0
VPS11	55823	broad.mit.edu	37	11	118951815	118951815	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:118951815C>T	uc010ryx.2	+	15	2488	c.2446C>T	c.(2446-2448)Caa>Taa	p.Q816*	VPS11_uc010ryy.2_Nonsense_Mutation_p.Q664*	NM_021729	NP_068375	Q9H270	VPS11_HUMAN	Homo sapiens vacuolar protein sorting 11 homolog (S. cerevisiae) (VPS11), mRNA.	818					protein transport	HOPS complex|endocytic vesicle|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		TAAGATTTTCCAAAAGACCAA	0.502000														261			63		0	0	1	0	0
ASB15	142685	broad.mit.edu	37	7	123270074	123270074	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:123270074C>T	uc003vku.1	+	10	1787	c.1495C>T	c.(1495-1497)Cgt>Tgt	p.R499C	ASB15_uc003vkw.1_Missense_Mutation_p.R499C	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 15 (ASB15), mRNA.	499					intracellular signal transduction			p.R499S(1)		breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						CAGAGTTACTCGTGTACTAAT	0.358000														192			20		0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99641066	99641066	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:99641066G>A	uc001yga.3	-	3	2374	c.2107C>T	c.(2107-2109)Ccg>Tcg	p.P703S	BCL11B_uc001ygb.3_Missense_Mutation_p.P632S	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA.	703						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		TTCTCGGACGGGATGAGCGCG	0.706000			T	TLX3	T-ALL									30			7		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168310283	168310283	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:168310283C>T	uc010jjg.3	-	4	892	c.472G>A	c.(472-474)Gat>Aat	p.D158N	SLIT3_uc003mab.3_Missense_Mutation_p.D158N|SLIT3_uc010jji.2_Missense_Mutation_p.D158N	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	158					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTCTTCACATCGGTGATGCCG	0.507000														65			17		0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	119033603	119033603	+	Splice_Site	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:119033603G>A	uc004bjn.3	+	9	3243	c.2862_splice	c.e9-1	p.K954_splice	PAPPA_uc011lxp.1_Splice_Site_p.K649_splice|PAPPA_uc011lxq.2_Splice_Site_p.K329_splice	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	954					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CTGCTCTGCAGAGACCAAGGT	0.458000														98			25		0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126139082	126139082	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:126139082G>A	uc001uhe.1	+	8	3071	c.3063G>A	c.(3061-3063)agG>agA	p.R1021R	TMEM132B_uc001uhf.1_Silent_p.R533R	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	1021						integral to membrane		p.R1021R(2)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GCCCAAAGAGGAAGAGAGTCA	0.458000														51			12		0	0	1	0	0
LINGO2	158038	broad.mit.edu	37	9	27949509	27949509	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:27949509G>A	uc003zqv.1	-	6	1811	c.1161C>T	c.(1159-1161)acC>acT	p.T387T	LINGO2_uc010mjf.1_Silent_p.T387T|LINGO2_uc003zqu.1_Silent_p.T387T|LINGO2_uc022bfc.1_Silent_p.T387T	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 2 (LINGO2), mRNA.	387	LRRCT.					integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TCTCACGGATGGTGTCTGGGC	0.517000														48			6		0	0	1	0	0
CYP2C8	1558	broad.mit.edu	37	10	96829157	96829157	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr10:96829157C>T	uc001kkb.3	-	0	98	c.3G>A	c.(1-3)atG>atA	p.M1I	CYP2C8_uc010qoa.2_5'UTR|CYP2C8_uc010qoc.2_5'UTR|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_5'UTR|CYP2C8_uc021pwl.1_5'UTR|CYP2C8_uc010qod.1_5'UTR	NM_000770	NP_000761	P10632	CP2C8_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA.	1					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	CAAAAGGTTCCATTGAAGCCT	0.448000														33			3		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24924404	24924404	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:24924404G>A	uc001ywo.3	+	0	3864	c.3390G>A	c.(3388-3390)gaG>gaA	p.E1130E		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	1130					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CATGGACAGAGAGAAAATTCT	0.473000														128			29		0	0	1	0	0
FNDC7	163479	broad.mit.edu	37	1	109268482	109268482	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:109268482G>A	uc001dvx.3	+	5	967	c.967G>A	c.(967-969)Gat>Aat	p.D323N	FNDC7_uc010ova.2_Missense_Mutation_p.D90N	NM_001144937	NP_001138409	Q5VTL7	FNDC7_HUMAN	Homo sapiens fibronectin type III domain containing 7 (FNDC7), mRNA.	324	Fibronectin type-III 4.					extracellular region				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		TGTGAAGAGTGATGATGGCTT	0.453000														134			23		0	0	1	0	0
CDH11	1009	broad.mit.edu	37	16	64981857	64981857	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:64981857G>A	uc002eoi.3	-	12	2474	c.2040C>T	c.(2038-2040)acC>acT	p.T680T	CDH11_uc010cdn.3_Non-coding_Transcript|CDH11_uc002eoj.3_3'UTR|CDH11_uc010vin.2_Silent_p.T554T	NM_001797	NP_001788	P55287	CAD11_HUMAN	Homo sapiens cadherin 11, type 2, OB-cadherin (osteoblast) (CDH11), mRNA.	680					adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GATTCTGGAGGGTGGCAATAT	0.483000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)				91			27		0	0	1	0	0
ASB17	127247	broad.mit.edu	37	1	76384833	76384833	+	Missense_Mutation	SNP	C	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:76384833C>A	uc001dhe.2	-	2	832	c.692G>T	c.(691-693)aGt>aTt	p.S231I	ASB17_uc001dhf.2_Non-coding_Transcript	NM_080868	NP_543144	Q8WXJ9	ASB17_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 17 (ASB17), transcript variant 1, mRNA.	231					intracellular signal transduction					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						TCTTCCTAAACTCAGCTGTGT	0.269000														19			4		0.00909568	0.00911228	1	1	0
ANKH	56172	broad.mit.edu	37	5	14756009	14756009	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:14756009G>A	uc003jfm.4	-	3	808	c.477C>T	c.(475-477)ttC>ttT	p.F159F		NM_054027	NP_473368	Q9HCJ1	ANKH_HUMAN	Homo sapiens ankylosis, progressive homolog (mouse) (ANKH), mRNA.	159					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						ATCCCACCAGGAAACTGTATT	0.453000														57			9		0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76754495	76754495	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr18:76754495C>T	uc002lmt.3	+	1	2504	c.2504C>T	c.(2503-2505)tCg>tTg	p.S835L	SALL3_uc010dra.3_Missense_Mutation_p.S442L	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	835					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TCCCCGCCCTCGGTCATCTCC	0.657000														60			12		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139164989	139164989	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:139164989C>T	uc003yuy.3	-	12	1900	c.1729G>A	c.(1729-1731)Gag>Aag	p.E577K	FAM135B_uc003yux.3_Missense_Mutation_p.E478K|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.E139K|FAM135B_uc003yvb.3_Missense_Mutation_p.E139K	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	577								p.H576N(1)		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)			CTCCTACTCTCATGCTGAGCA	0.488000										HNSCC(54;0.14)				102			21		0	0	1	0	0
SULT1B1	27284	broad.mit.edu	37	4	70620463	70620463	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:70620463C>T	uc003hen.3	-	2	500	c.202G>A	c.(202-204)Gaa>Aaa	p.E68K		NM_014465	NP_055280	O43704	ST1B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1B, member 1 (SULT1B1), mRNA.	68					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						TTACATTTTTCAATATCTCCA	0.333000														92			19		0	0	1	0	0
C9orf139	401563	broad.mit.edu	37	9	139929490	139929490	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:139929490C>T	uc004ckp.1	+	2	2071	c.557C>T	c.(556-558)cCc>cTc	p.P186L	FUT7_uc004ckq.2_5'Flank	NM_207511	NP_997394	Q6ZV77	CI139_HUMAN	Homo sapiens chromosome 9 open reading frame 139 (C9orf139), mRNA.	186										cervix(1)|lung(2)	3	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493)		TCATCTCACCCCACCCAGGCC	0.587000														88			20		0	0	1	0	0
SPINK5	11005	broad.mit.edu	37	5	147449898	147449898	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:147449898G>A	uc003lox.2	+	2	167	c.94G>A	c.(94-96)Gaa>Aaa	p.E32K	SPINK5_uc010jgq.1_Non-coding_Transcript|SPINK5_uc010jgs.1_Missense_Mutation_p.E4K|SPINK5_uc010jgr.2_Intron|SPINK5_uc003low.2_Missense_Mutation_p.E32K|SPINK5_uc003loy.2_Missense_Mutation_p.E32K	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 2, mRNA.	32	Kazal-like 1; atypical.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATGTGCCATGAATTTCAGGC	0.294000														28			8		0	0	1	0	0
CYP7B1	9420	broad.mit.edu	37	8	65527628	65527628	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:65527628G>A	uc003xvj.2	-	3	1216	c.1012C>T	c.(1012-1014)Ccc>Tcc	p.P338S		NM_004820	NP_004811	O75881	CP7B1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily B, polypeptide 1 (CYP7B1), mRNA.	338					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				AGGTGGATGGGAAATCCAGAC	0.443000														47			13		0	0	1	0	0
URB2	9816	broad.mit.edu	37	1	229771476	229771476	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:229771476C>T	uc001hts.1	+	3	1252	c.1116C>T	c.(1114-1116)atC>atT	p.I372I	URB2_uc009xfd.1_Silent_p.I372I	NM_014777	NP_055592	Q14146	URB2_HUMAN	Homo sapiens URB2 ribosome biogenesis 2 homolog (S. cerevisiae) (URB2), mRNA.	372						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						ACAACAATATCTACAACATCG	0.517000														48			6		0	0	1	0	0
DCX	1641	broad.mit.edu	37	X	110653286	110653286	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chrX:110653286C>T	uc004epd.3	-	1	756	c.584G>A	c.(583-585)gGa>gAa	p.G195E	DCX_uc011msv.2_Missense_Mutation_p.G195E|DCX_uc004epe.3_Missense_Mutation_p.G114E|DCX_uc004epf.3_Missense_Mutation_p.G114E|DCX_uc004epg.3_Missense_Mutation_p.G114E	NM_000555	NP_835366	O43602	DCX_HUMAN	Homo sapiens doublecortin (DCX), transcript variant 1, mRNA.	195	Doublecortin 1.				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						ATCCATGCTTCCGATCTTCCT	0.498000														44			25		0	0	1	0	0
HHIPL1	84439	broad.mit.edu	37	14	100118902	100118902	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:100118902G>A	uc010avs.3	+	1	662	c.597G>A	c.(595-597)atG>atA	p.M199I	HHIPL1_uc001ygl.1_Missense_Mutation_p.M199I	NM_001127258	NP_001120730	Q96JK4	HIPL1_HUMAN	Homo sapiens HHIP-like 1 (HHIPL1), transcript variant 1, mRNA.	199					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				CCGTGGCCATGGTCCATGCCA	0.677000														35			17		0	0	1	0	0
VAV1	7409	broad.mit.edu	37	19	6772975	6772975	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:6772975C>T	uc002mfu.1	+	0	254	c.157C>T	c.(157-159)Cat>Tat	p.H53Y	VAV1_uc010xjh.1_Missense_Mutation_p.H53Y|VAV1_uc010dva.1_Missense_Mutation_p.H53Y	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	53	CH.|Leu-rich.				T cell costimulation|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CCTGCTACCCCATGCCATCAA	0.657000														200			36		0	0	1	0	0
PKP1	5317	broad.mit.edu	37	1	201294249	201294249	+	Missense_Mutation	SNP	G	A	A	rs139909774		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:201294249G>A	uc001gwd.3	+	11	2329	c.2078G>A	c.(2077-2079)cGa>cAa	p.R693Q	PKP1_uc001gwe.3_Missense_Mutation_p.R672Q|PKP1_uc009wzm.3_Missense_Mutation_p.R280Q	NM_000299	NP_000290	Q13835	PKP1_HUMAN	Homo sapiens plakophilin 1 (ectodermal dysplasia/skin fragility syndrome) (PKP1), transcript variant 1b, mRNA.	693					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						AACCTGTGCCGAAGCAGGTGG	0.612000														166			42		0	0	1	0	0
NBPF16	728936	broad.mit.edu	37	1	148741790	148741790	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:148741790C>T	uc010pba.1	+	2	467	c.276C>T	c.(274-276)ctC>ctT	p.L92L	NBPF16_uc009wkt.1_5'UTR	NM_001102663	NP_001096133			Homo sapiens neuroblastoma breakpoint family, member 16 (NBPF16), mRNA.											breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4	all_hematologic(923;0.032)					CTGAGGAGCTCAGGTGAGGGG	0.527000														88			21		0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214813533	214813533	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:214813533C>T	uc001hkm.3	+	11	2026	c.1852C>T	c.(1852-1854)Ctg>Ttg	p.L618L		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	618					DNA replication|G2 phase of mitotic cell cycle|cell differentiation|cell division|cell proliferation|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AGAGAAAACTCTGTTTTCTTG	0.318000														27			4		0	0	1	0	0
WDR90	197335	broad.mit.edu	37	16	716717	716717	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:716717G>A	uc002cii.1	+	38	4983	c.4929G>A	c.(4927-4929)tgG>tgA	p.W1643*	WDR90_uc002cij.1_Intron|WDR90_uc002cil.1_Non-coding_Transcript|WDR90_uc002cin.1_Nonsense_Mutation_p.W258*|WDR90_uc002cio.1_Nonsense_Mutation_p.W242*|WDR90_uc010bqx.1_Nonsense_Mutation_p.W194*|RHOT2_uc010uum.2_5'Flank|RHOT2_uc002cip.3_5'Flank|RHOT2_uc002ciq.3_5'Flank	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	Homo sapiens WD repeat domain 90 (WDR90), mRNA.	1643										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				TCTGCCCTTGGGATGGGGCGC	0.642000														67			13		0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	22086769	22086769	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:22086769G>A	uc001rfh.3	-	1	251	c.231C>T	c.(229-231)ttC>ttT	p.F77F	ABCC9_uc001rfi.1_Silent_p.F77F|ABCC9_uc001rfk.3_Silent_p.F77F|ABCC9_uc001rfl.1_Silent_p.F77F	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	77					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)	ACAGGAGAGCGAATGTAAGAA	0.428000														68			9		0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55494101	55494101	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:55494101G>A	uc021vbq.1	+	5	1146	c.1035G>A	c.(1033-1035)cgG>cgA	p.R345R	NLRP2_uc010yfp.2_Silent_p.R322R|NLRP2_uc002qij.3_Silent_p.R345R|NLRP2_uc010esp.3_Silent_p.R323R|NLRP2_uc010esn.3_Silent_p.R321R|NLRP2_uc010eso.3_Silent_p.R342R	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	345	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GGGACCTCCGGATCCTGGCGG	0.637000														26			4		0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37618856	37618856	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr21:37618856C>T	uc002yvg.3	+	18	4657	c.4578C>T	c.(4576-4578)tcC>tcT	p.S1526S	DOPEY2_uc011aeb.2_Silent_p.S1475S|DOPEY2_uc002yvh.3_Silent_p.S377S	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	Homo sapiens dopey family member 2 (DOPEY2), mRNA.	1526					Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TCACGCATTCCTTGCCCTACT	0.562000														64			14		0	0	1	0	0
CNGA4	1262	broad.mit.edu	37	11	6261526	6261526	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:6261526C>T	uc001mco.3	+	3	617	c.502C>T	c.(502-504)Cgc>Tgc	p.R168C	CNGA4_uc010raa.2_Intron|CNGA4_uc001mcn.3_Missense_Mutation_p.R128C	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 4 (CNGA4), mRNA.	168					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAATGCCTTTCGCATTGCCAA	0.582000														94			23		0	0	1	0	0
ZNF165	7718	broad.mit.edu	37	6	28056508	28056508	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:28056508G>A	uc021yro.1	+	3	1545	c.718G>A	c.(718-720)Gaa>Aaa	p.E240K	ZNF165_uc003nkh.3_Missense_Mutation_p.E240K|ZNF165_uc003nki.4_Missense_Mutation_p.E240K|ZSCAN12P1_uc003nkj.4_5'Flank	NM_003447	NP_003438	P49910	ZN165_HUMAN	Homo sapiens zinc finger protein 165 (ZNF165), mRNA.	240					viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ATGGGAAAAAGAATCAGGGGA	0.428000														114			24		0	0	1	0	0
USP43	124739	broad.mit.edu	37	17	9590140	9590140	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:9590140G>A	uc010cod.3	+	7	1267	c.1267G>A	c.(1267-1269)Gaa>Aaa	p.E423K	USP43_uc002gma.4_Missense_Mutation_p.E112K|USP43_uc010vva.2_Missense_Mutation_p.E423K|USP43_uc010coe.3_Missense_Mutation_p.E220K	NM_153210	NP_694942	Q70EL4	UBP43_HUMAN	Homo sapiens ubiquitin specific peptidase 43 (USP43), mRNA.	423					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						CCTGATAAGGGAAGACAGAGC	0.522000														31			6		0	0	1	0	0
PQLC2	54896	broad.mit.edu	37	1	19653818	19653818	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:19653818C>T	uc001bby.3	+	7	1068	c.716C>T	c.(715-717)cCc>cTc	p.P239L	PQLC2_uc001bca.3_Missense_Mutation_p.P239L|PQLC2_uc001bbz.3_Missense_Mutation_p.P174L|PQLC2_uc001bcb.3_Missense_Mutation_p.P128L|PQLC2_uc021ohq.1_Non-coding_Transcript	NM_017765	NP_001035215	Q6ZP29	PQLC2_HUMAN	Homo sapiens PQ loop repeat containing 2 (PQLC2), transcript variant 2, mRNA.	239	PQ-loop 2.					integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CTCAAAAACCCCGAGGAGGGC	0.632000														90			18		0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62256091	62256091	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:62256091C>T	uc002agz.3	-	31	3365	c.3274G>A	c.(3274-3276)Gct>Act	p.A1092T	VPS13C_uc002aha.3_Missense_Mutation_p.A1049T|VPS13C_uc002ahb.2_Missense_Mutation_p.A1092T|VPS13C_uc002ahc.2_Missense_Mutation_p.A1049T	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	1092					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						ACACAGAAAGCATTCAACTTG	0.358000														38			14		0	0	1	0	0
MYH10	4628	broad.mit.edu	37	17	8452049	8452049	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:8452049G>A	uc002glm.3	-	9	1072	c.976C>T	c.(976-978)Cct>Tct	p.P326S	MYH10_uc002gll.3_Missense_Mutation_p.P316S|MYH10_uc010cnx.3_Missense_Mutation_p.P325S|Metazoa_SRP_uc021tqb.1_5'Flank|MYH10_uc010cny.1_Non-coding_Transcript	NM_005964	NP_005955	P35580	MYH10_HUMAN	Homo sapiens myosin, heavy chain 10, non-muscle (MYH10), transcript variant 2, mRNA.	316	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						CCCGGAATAGGAATATAGCCA	0.363000														116			16		0	0	1	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106849448	106849448	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:106849448C>T	uc009yxn.1	-	2	774	c.384G>A	c.(382-384)aaG>aaA	p.K128K	GUCY1A2_uc001pjg.1_Silent_p.K128K|GUCY1A2_uc010rvo.1_Silent_p.K128K	NM_000855	NP_000846	P33402	GCYA2_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 2 (GUCY1A2), transcript variant 2, mRNA.	128					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	p.K128N(2)		breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		TGTGGAAATTCTTTTCTGCAT	0.368000														33			10		0	0	1	0	0
ZNF331	55422	broad.mit.edu	37	19	54081049	54081049	+	Missense_Mutation	SNP	G	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:54081049G>T	uc002qbx.1	+	6	2669	c.1235G>T	c.(1234-1236)gGg>gTg	p.G412V	ZNF331_uc002qby.1_Missense_Mutation_p.G412V|ZNF331_uc002qbz.1_Missense_Mutation_p.G412V|ZNF331_uc010eqr.1_Missense_Mutation_p.G412V|ZNF331_uc002qca.1_Missense_Mutation_p.G412V|ZNF331_uc021uzg.1_Missense_Mutation_p.G412V|ZNF331_uc021uzh.1_Missense_Mutation_p.G412V|ZNF331_uc002qcb.1_Missense_Mutation_p.G412V|ZNF331_uc002qcc.1_Missense_Mutation_p.G412V|ZNF331_uc002qcd.1_Missense_Mutation_p.G412V	NM_018555	NP_061025	Q9NQX6	ZN331_HUMAN	Homo sapiens zinc finger protein 331 (ZNF331), transcript variant 1, mRNA.	412					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		AAACCCTATGGGTGTACAGAA	0.488000			T	?	follicular thyroid adenoma									40			7		5.18039e-06	5.21204e-06	1	1	0
PTPRT	11122	broad.mit.edu	37	20	40747137	40747137	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr20:40747137G>A	uc002xkg.3	-	20	3072	c.2888C>T	c.(2887-2889)cCg>cTg	p.P963L	PTPRT_uc010ggj.3_Missense_Mutation_p.P982L|PTPRT_uc010ggi.3_Missense_Mutation_p.P166L	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	963	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CTCCTGCATCGGACCTGCCAA	0.532000														72			19		0	0	1	0	0
GCNT1	2650	broad.mit.edu	37	9	79117954	79117954	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:79117954G>A	uc022bif.1	+	0	657	c.657G>A	c.(655-657)atG>atA	p.M219I	GCNT1_uc010mpf.3_Missense_Mutation_p.M219I|GCNT1_uc010mpg.3_Missense_Mutation_p.M219I|GCNT1_uc010mph.3_Missense_Mutation_p.M219I|GCNT1_uc004akf.4_Missense_Mutation_p.M219I|GCNT1_uc010mpi.3_Missense_Mutation_p.M219I|GCNT1_uc004akh.4_Missense_Mutation_p.M219I	NM_001490	NP_001481	Q02742	GCNT1_HUMAN	Homo sapiens glucosaminyl (N-acetyl) transferase 1, core 2 (GCNT1), transcript variant 2, mRNA.	219	Catalytic (By similarity).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						TTTGTGGTATGGATTTTCCCA	0.428000														51			15		0	0	1	0	0
TAS2R38	5726	broad.mit.edu	37	7	141673182	141673182	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:141673182T>C	uc003vwx.1	-	0	392	c.308A>G	c.(307-309)aAc>aGc	p.N103S		NM_176817	NP_789787	P59533	T2R38_HUMAN	Homo sapiens taste receptor, type 2, member 38 (TAS2R38), mRNA.	103					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					GTTGGCTTGGTTTGCAATCAT	0.522000														129			13		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41419882	41419882	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr20:41419882C>T	uc002xkg.3	-	2	623	c.439G>A	c.(439-441)Gtg>Atg	p.V147M	PTPRT_uc010ggj.3_Missense_Mutation_p.V147M	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	147	MAM.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TCTGCCTTCACCCAGCCCTCA	0.498000														145			22		0	0	1	0	0
PRTG	283659	broad.mit.edu	37	15	55916539	55916539	+	Splice_Site	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:55916539C>T	uc002adg.3	-	18	3141	c.3093_splice	c.e18+1	p.K1031_splice		NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN	Homo sapiens protogenin (PRTG), mRNA.	1031					multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		CAGCTCAGTACCTTTGCATCA	0.418000														90			20		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82584275	82584275	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:82584275C>T	uc003uhx.2	-	4	6283	c.5994G>A	c.(5992-5994)caG>caA	p.Q1998Q	PCLO_uc003uhv.2_Silent_p.Q1998Q	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1929					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						CTTCATAAATCTGTTCTGAAA	0.373000														129			11		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124274641	124274641	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:124274641G>A	uc001uft.4	+	10	1630	c.1605G>A	c.(1603-1605)gtG>gtA	p.V535V	DNAH10_uc010tav.1_Silent_p.V20V|DNAH10_uc010taw.1_Silent_p.V20V	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	535	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGAAATATGTGATGGATGAAT	0.458000														161			43		0	0	1	0	0
CD300C	10871	broad.mit.edu	37	17	72541035	72541035	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:72541035G>A	uc002jky.1	-	1	474	c.113C>T	c.(112-114)tCc>tTc	p.S38F		NM_006678	NP_006669	Q08708	CLM6_HUMAN	Homo sapiens CD300c molecule (CD300C), mRNA.	38	Ig-like V-type.				cellular defense response	integral to plasma membrane	transmembrane receptor activity	p.S38F(2)		endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						CACACTCAGGGATCCCCCCAC	0.547000														76			15		0	0	1	0	0
CNPPD1	27013	broad.mit.edu	37	2	220037365	220037365	+	Silent	SNP	A	G	G			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:220037365A>G	uc002vju.4	-	7	1328	c.1176T>C	c.(1174-1176)tgT>tgC	p.C392C	NHEJ1_uc002vjq.4_5'Flank|SLC23A3_uc010zkr.2_5'Flank|SLC23A3_uc010zks.2_5'Flank|SLC23A3_uc010fwb.3_5'Flank|CNPPD1_uc002vjv.3_Silent_p.C392C	NM_015680	NP_056495	Q9BV87	CNPD1_HUMAN	Homo sapiens cyclin Pas1/PHO80 domain containing 1 (CNPPD1), mRNA.	392					regulation of cyclin-dependent protein kinase activity	integral to membrane	protein kinase binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	12						TGAAAAGGGAACATTGCTGAG	0.572000														116			25		0	0	1	0	0
SERPINB7	8710	broad.mit.edu	37	18	61460488	61460488	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr18:61460488G>A	uc002ljl.3	+	3	409	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K	SERPINB7_uc002ljm.3_Missense_Mutation_p.E105K|SERPINB7_uc010xet.2_Missense_Mutation_p.E88K|SERPINB7_uc010dqg.3_Missense_Mutation_p.E105K	NM_001040147	NP_003775	O75635	SPB7_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA.	105					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	p.A104P(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				GCTTTTTGCTGAAAAAGTGTA	0.373000														43			11		0	0	1	0	0
HSPA8	3312	broad.mit.edu	37	11	122931850	122931850	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:122931850C>T	uc001pyo.3	-	1	318	c.183G>A	c.(181-183)atG>atA	p.M61I	HSPA8_uc009zbc.3_5'Flank|HSPA8_uc001pyp.3_Missense_Mutation_p.M61I|HSPA8_uc010rzu.2_Missense_Mutation_p.M61I|HSPA8_uc009zbd.2_Missense_Mutation_p.M61I|HSPA8_uc010rzv.1_Missense_Mutation_p.M61I	NM_006597	NP_006588	P11142	HSP7C_HUMAN	Homo sapiens heat shock 70kDa protein 8 (HSPA8), transcript variant 1, mRNA.	61					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding	p.M61T(1)		breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TGGTGGGGTTCATTGCAACTT	0.433000														43			11		0	0	1	0	0
OR52H1	390067	broad.mit.edu	37	11	5566262	5566262	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:5566262G>A	uc010qzh.2	-	0	492	c.492C>T	c.(490-492)atC>atT	p.I164I	HBG1_uc001mak.1_Intron	NM_001005289	NP_001005289	Q8NGJ2	O52H1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily H, member 1 (OR52H1), mRNA.	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATCTGGCAGGATGATGCAGA	0.493000														50			5		0	0	1	0	0
OR1S2	219958	broad.mit.edu	37	11	57971194	57971194	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:57971194C>G	uc010rkb.2	-	0	460	c.460G>C	c.(460-462)Ggc>Cgc	p.G154R		NM_001004459	NP_001004459	Q8NGQ3	OR1S2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily S, member 2 (OR1S2), mRNA.	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F153F(1)		endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				AGCAAAGTGCCGAACCTGGCC	0.483000														127			20		0	0	1	0	0
DMTF1	9988	broad.mit.edu	37	7	86820320	86820320	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:86820320C>T	uc003uih.3	+	13	1797	c.1471C>T	c.(1471-1473)Cta>Tta	p.L491L	DMTF1_uc003uii.3_Silent_p.L225L|DMTF1_uc003uij.3_Silent_p.L225L|DMTF1_uc011khb.2_Silent_p.L403L|DMTF1_uc003uik.3_Non-coding_Transcript|DMTF1_uc003uil.3_Silent_p.L491L|DMTF1_uc003uin.3_Silent_p.L225L	NM_001142327	NP_001135798	Q9Y222	DMTF1_HUMAN	Homo sapiens cyclin D binding myb-like transcription factor 1 (DMTF1), transcript variant 2, mRNA.	491	Interaction with CCND1, CCND2 and CCND3 (By similarity).|Required for transcriptional activation (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					CAGTGGAACACTACAGACATT	0.378000														38			4		0	0	1	0	0
CCBE1	147372	broad.mit.edu	37	18	57103370	57103370	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr18:57103370G>A	uc002lib.3	-	10	1061	c.991C>T	c.(991-993)Ccc>Tcc	p.P331S	CCBE1_uc010dpq.3_Missense_Mutation_p.P60S|CCBE1_uc002lia.3_Missense_Mutation_p.P184S	NM_133459	NP_597716	Q6UXH8	CCBE1_HUMAN	Homo sapiens collagen and calcium binding EGF domains 1 (CCBE1), mRNA.	331	Collagen-like 2.				lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				GAACCAGGGGGTCCCTGTGTA	0.532000														66			17		0	0	1	0	0
EVPLL	645027	broad.mit.edu	37	17	18286823	18286823	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:18286823G>A	uc002gte.3	+	8	1053	c.798G>A	c.(796-798)ctG>ctA	p.L266L		NM_001145127	NP_001138599	A8MZ36	EVPLL_HUMAN	Homo sapiens envoplakin-like (EVPLL), mRNA.	266										NS(1)|endometrium(1)|large_intestine(1)|lung(2)	5						AGGAGGCCCTGAAGATGGAGT	0.706000														10			4		0	0	1	0	0
GRK6	2870	broad.mit.edu	37	5	176859235	176859236	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:176859235_176859236CC>TT	uc021yit.1	+	3	423_424	c.263_264CC>TT	c.(262-264)gcc>gTT	p.A88V	GRK6_uc003mgq.2_Missense_Mutation_p.A88V|GRK6_uc021yiu.1_Missense_Mutation_p.A88V|GRK6_uc003mgs.1_Missense_Mutation_p.A58V	NM_001004106	NP_001004106	P43250	GRK6_HUMAN	Homo sapiens G protein-coupled receptor kinase 6 (GRK6), transcript variant 1, mRNA.	88	N-terminal.|RGS.				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACCCTGCAGGCCGAGTATGAAG	0.629000														102			13		0	0	1	0	0
ENPP6	133121	broad.mit.edu	37	4	185038131	185038131	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:185038131C>T	uc003iwc.3	-	4	875	c.733G>A	c.(733-735)Gac>Aac	p.D245N		NM_153343	NP_699174	Q6UWR7	ENPP6_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 6 (ENPP6), mRNA.	245					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		CAGAAAATGTCGGTCATTCCG	0.532000														42			11		0	0	1	0	0
CHCHD4	131474	broad.mit.edu	37	3	14154632	14154632	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:14154632C>T	uc003byj.4	-	2	379	c.184G>A	c.(184-186)Ggt>Agt	p.G62S	CHCHD4_uc003byi.4_Missense_Mutation_p.G75S	NM_001098502	NP_001091972	Q8N4Q1	MIA40_HUMAN	Homo sapiens coiled-coil-helix-coiled-coil-helix domain containing 4 (CHCHD4), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	62	CHCH.				protein transport|transmembrane transport	mitochondrial intermembrane space				kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						CCACAGGGACCGCTGGCCATT	0.493000														86			17		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36898287	36898287	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:36898287C>T	uc003cgj.3	-	11	3042	c.2794G>A	c.(2794-2796)Ggt>Agt	p.G932S		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	932					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TTATTGATACCTTTCAGCTTC	0.502000														79			18		0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	144618109	144618109	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:144618109G>A	uc009wig.1	+	4	494	c.300G>A	c.(298-300)caG>caA	p.Q100Q	NBPF10_uc010oxo.1_Intron|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Intron|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_Silent_p.Q33Q|NBPF10_uc001eli.3_Non-coding_Transcript|NBPF10_uc009wii.1_5'UTR	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	102								p.V99F(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TTCACTCTCAGGAACGAGAGC	0.468000														460			34		0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154393562	154393562	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:154393562C>T	uc010jih.1	+	0	303	c.143C>T	c.(142-144)tCc>tTc	p.S48F		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	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														59			11		0	0	1	0	0
SMPD3	55512	broad.mit.edu	37	16	68395565	68395565	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:68395565C>T	uc002ewa.3	-	7	2229	c.1807G>A	c.(1807-1809)Ggc>Agc	p.G603S	SMPD3_uc010cfe.3_Missense_Mutation_p.G586S|SMPD3_uc010vlh.2_Missense_Mutation_p.G595S	NM_018667	NP_061137	Q9NY59	NSMA2_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II) (SMPD3), mRNA.	603					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	ATGCGCCGGCCGTTGCCCTTC	0.657000														62			19		0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169446040	169446040	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:169446040C>T	uc003maf.3	+	32	3389	c.3309C>T	c.(3307-3309)ctC>ctT	p.L1103L	DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Silent_p.L595L	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	1103	Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding	p.E1102*(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGGCTGAGCTCCGGAAAGCCA	0.443000														178			45		0	0	1	0	0
GK2	2712	broad.mit.edu	37	4	80329203	80329203	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:80329203C>T	uc003hlu.3	-	0	170	c.152G>A	c.(151-153)gGa>gAa	p.G51E		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	Homo sapiens glycerol kinase 2 (GK2), mRNA.	51					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						TTCCACCCATCCTTCTTTTGG	0.413000														111			12		0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42046504	42046504	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:42046504C>T	uc001cgz.4	-	3	5178	c.3965G>A	c.(3964-3966)cGt>cAt	p.R1322H	HIVEP3_uc001cha.4_Missense_Mutation_p.R1322H|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	1322					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGTCTGAACACGGACAGGCAC	0.597000														108			23		0	0	1	0	0
PALLD	23022	broad.mit.edu	37	4	169632963	169632963	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:169632963G>A	uc011cjx.2	+	9	2064	c.1853G>A	c.(1852-1854)gGa>gAa	p.G618E	PALLD_uc003iru.3_Missense_Mutation_p.G618E|PALLD_uc003irv.3_Missense_Mutation_p.G236E	NM_001166108	NP_001159580	Q8WX93	PALLD_HUMAN	Homo sapiens palladin, cytoskeletal associated protein (PALLD), transcript variant 1, mRNA.	618					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		CCCAGCCGTGGAGTAAATGGA	0.517000									Pancreatic Cancer, Familial Clustering of					44			7		0	0	1	0	0
CXorf22	170063	broad.mit.edu	37	X	35974281	35974281	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chrX:35974281G>A	uc004ddj.3	+	7	1444	c.1378G>A	c.(1378-1380)Gaa>Aaa	p.E460K	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	460										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AATTGATCCTGAAAAGGGCAA	0.373000														11			8		0	0	1	0	0
GZMK	3003	broad.mit.edu	37	5	54326371	54326371	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:54326371G>A	uc003jpl.1	+	2	366	c.322G>A	c.(322-324)Gtt>Att	p.V108I		NM_002104	NP_002095	P49863	GRAK_HUMAN	Homo sapiens granzyme K (granzyme 3; tryptase II) (GZMK), mRNA.	108	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				ATTCTCAAGAGTTACATCAGA	0.398000														92			19		0	0	1	0	0
VCAM1	7412	broad.mit.edu	37	1	101196829	101196829	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:101196829T>C	uc001dti.3	+	5	1501	c.1280T>C	c.(1279-1281)gTt>gCt	p.V427A	VCAM1_uc010ouj.2_Missense_Mutation_p.V365A|VCAM1_uc001dtj.3_Missense_Mutation_p.V335A	NM_001078	NP_001069	P19320	VCAM1_HUMAN	Homo sapiens vascular cell adhesion molecule 1 (VCAM1), transcript variant 1, mRNA.	427	Ig-like C2-type 5.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	AGCTGCAAGGTTCCTAGCGTG	0.463000														45			8		0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44555716	44555716	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:44555716C>T	uc003tlb.3	-	17	3737	c.3681G>A	c.(3679-3681)agG>agA	p.R1227R	NPC1L1_uc011kbw.2_Silent_p.R1154R|NPC1L1_uc003tlc.3_Silent_p.R1200R|NPC1L1_uc003tla.3_Intron	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	1227					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)	CCTCTTTGGCCCTCTCCAGCC	0.627000														15			7		0	0	1	0	0
CLN5	1203	broad.mit.edu	37	13	77575078	77575078	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr13:77575078A>G	uc001vkc.3	+	3	1226	c.1198A>G	c.(1198-1200)Aga>Gga	p.R400G	Mir_633_uc021rkr.1_5'Flank	NM_006493	NP_006484	O75503	CLN5_HUMAN	Homo sapiens ceroid-lipofuscinosis, neuronal 5 (CLN5), mRNA.	351					brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process	Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0503)		TTTACCTATCAGAAACAAAAC	0.303000														28			4		0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111603908	111603908	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:111603908C>T	uc010hqa.3	+	1	1395	c.984C>T	c.(982-984)acC>acT	p.T328T	PHLDB2_uc003dyc.3_Silent_p.T355T|PHLDB2_uc003dyd.3_Silent_p.T328T|PHLDB2_uc003dyg.3_Silent_p.T328T|PHLDB2_uc003dyh.3_Silent_p.T328T|PHLDB2_uc003dye.4_Silent_p.T328T|PHLDB2_uc003dyf.4_Silent_p.T328T	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	328						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						TAAGTTCTACCCTCAGTGTCC	0.468000														49			15		0	0	1	0	0
SYT16	83851	broad.mit.edu	37	14	62463026	62463026	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:62463026G>A	uc001xfu.1	+	0	486	c.289G>A	c.(289-291)Gat>Aat	p.D97N	SYT16_uc010tsd.1_Missense_Mutation_p.D97N	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	Homo sapiens synaptotagmin XVI (SYT16), mRNA.	97										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		TTGTAATAGTGATTTGCAGGA	0.433000														69			12		0	0	1	0	0
OR52N4	390072	broad.mit.edu	37	11	5776340	5776340	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:5776340C>T	uc001mbu.3	+	0	418	c.370C>T	c.(370-372)Cgc>Tgc	p.R124C	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001005175	NP_001005175	Q8NGI2	O52N4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 4 (OR52N4), mRNA.	124					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		GGCCCTGGATCGCTATGTGGC	0.493000														75			15		0	0	1	0	0
ARID4B	51742	broad.mit.edu	37	1	235336015	235336015	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:235336015G>A	uc021pks.1	-	22	4106	c.3729C>T	c.(3727-3729)atC>atT	p.I1243I	ARID4B_uc001hwq.3_Silent_p.I1243I|ARID4B_uc001hwr.3_Silent_p.I1157I|RBM34_uc001hwp.3_Non-coding_Transcript	NM_001206794	NP_001193723	Q4LE39	ARI4B_HUMAN	Homo sapiens AT rich interactive domain 4B (RBP1-like) (ARID4B), transcript variant 3, mRNA.	1243				IR -> NQ (in Ref. 3; AAF23433 and 10; AAD41239).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			AATGTTTTCTGATTTCTTGAA	0.318000														20			4		0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52553575	52553575	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:52553575C>T	uc003dej.3	+	49	5304	c.5230C>T	c.(5230-5232)Ctg>Ttg	p.L1744L	STAB1_uc003dek.1_5'UTR|STAB1_uc003del.3_5'Flank	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	1744	FAS1 6.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CAGCGGCCTCCTGAAGGTACT	0.567000														84			9		0	0	1	0	0
USP43	124739	broad.mit.edu	37	17	9631945	9631945	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:9631945C>T	uc010cod.3	+	14	3010	c.3010C>T	c.(3010-3012)Cgg>Tgg	p.R1004W	USP43_uc002gma.4_Missense_Mutation_p.R693W|USP43_uc010vva.2_Missense_Mutation_p.R999W|USP43_uc010coe.3_Missense_Mutation_p.R801W|USP43_uc002gmc.4_Missense_Mutation_p.R516W	NM_153210	NP_694942	Q70EL4	UBP43_HUMAN	Homo sapiens ubiquitin specific peptidase 43 (USP43), mRNA.	1004					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						GTCCGTGTTTCGGAAGAAGGA	0.602000														40			7		0	0	1	0	0
CD33	945	broad.mit.edu	37	19	51738480	51738480	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:51738480G>A	uc002pwa.2	+	4	854	c.814G>A	c.(814-816)Gct>Act	p.A272T	CD33_uc010eos.1_Missense_Mutation_p.A272T|CD33_uc010eot.1_Missense_Mutation_p.A145T|CD33_uc010eou.1_Non-coding_Transcript	NM_001772	NP_001763	P20138	CD33_HUMAN	Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA.	272					cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding	p.L271L(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	AGCCCTGCTCGCTCTTTGTCT	0.522000														46			16		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38820524	38820524	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:38820524G>A	uc021yzh.1	+	39	5630	c.5521G>A	c.(5521-5523)Gac>Aac	p.D1841N	DNAH8_uc003ooe.2_Missense_Mutation_p.D1624N	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TCATGCAAAAGACTATGATCG	0.368000														59			9		0	0	1	0	0
ZNF266	10781	broad.mit.edu	37	19	9525116	9525116	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:9525116C>T	uc010dwq.3	-	8	1693	c.485G>A	c.(484-486)gGg>gAg	p.G162E	ZNF266_uc002mll.3_Missense_Mutation_p.G162E|ZNF266_uc002mlm.3_Missense_Mutation_p.G162E|ZNF266_uc002mln.3_Missense_Mutation_p.G162E|ZNF266_uc002mlo.3_Missense_Mutation_p.G162E	NM_198058	NP_932175	Q14584	ZN266_HUMAN	Homo sapiens zinc finger protein 266 (ZNF266), mRNA.	162					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						GAAGGATTTCCCAGAGTCACT	0.433000														89			25		0	0	1	0	0
EVX1	2128	broad.mit.edu	37	7	27282763	27282763	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:27282763G>A	uc003szd.1	+	0	600	c.114G>A	c.(112-114)ccG>ccA	p.P38P	EVX1_uc011jzn.1_5'UTR|EVX1_uc010kuy.1_Silent_p.P38P	NM_001989	NP_001980	P49640	EVX1_HUMAN	Homo sapiens even-skipped homeobox 1 (EVX1), mRNA.	38						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						TGCCGGAGCCGCCCGAGAAAA	0.672000														14			9		0	0	1	0	0
ELAVL4	1996	broad.mit.edu	37	1	50666738	50666738	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:50666738C>T	uc001csb.2	+	6	1299	c.1031C>T	c.(1030-1032)aCc>aTc	p.T344I	ELAVL4_uc001cry.3_Missense_Mutation_p.T333I|ELAVL4_uc001crz.3_Missense_Mutation_p.T330I|ELAVL4_uc001csa.3_Missense_Mutation_p.T347I|ELAVL4_uc001csc.3_Missense_Mutation_p.T330I|ELAVL4_uc010omz.2_Missense_Mutation_p.T335I	NM_021952	NP_068771	P26378	ELAV4_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D) (ELAVL4), transcript variant 1, mRNA.	344	RRM 3.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						GGCTTTGTCACCATGACCAAC	0.522000														86			17		0	0	1	0	0
C20orf141	128653	broad.mit.edu	37	20	2795836	2795836	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr20:2795836C>T	uc002wgv.2	+	1	89	c.6C>T	c.(4-6)acC>acT	p.T2T	C20orf141_uc010gat.3_Silent_p.T2T|C20orf141_uc002wgw.3_Silent_p.T2T|TMEM239_uc002wgx.2_5'Flank|TMEM239_uc021vzw.1_5'Flank	NM_001167670	NP_001161142	Q9NUB4	CT141_HUMAN	Homo sapiens transmembrane protein 239 (TMEM239), mRNA.	2						integral to membrane				endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	10						TCTCCATGACCCGGCTCTGCT	0.612000														158			32		0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33576790	33576790	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:33576790G>A	uc003jia.1	-	18	3504	c.3341C>T	c.(3340-3342)aCc>aTc	p.T1114I	ADAMTS12_uc010iuq.1_Missense_Mutation_p.T1029I	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	1114	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCCCTCCGAGGTAGGACCAGT	0.493000										HNSCC(64;0.19)				65			17		0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	77764489	77764489	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:77764489C>T	uc003ugx.3	-	16	3134	c.2880G>A	c.(2878-2880)ggG>ggA	p.G960G	MAGI2_uc003ugy.3_Silent_p.G946G|MAGI2_uc010ldx.1_Silent_p.G553G	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	960	PDZ 5.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CTGCAGGACTCCCATCAATGA	0.483000														113			17		0	0	1	0	0
ZNF257	113835	broad.mit.edu	37	19	22271732	22271732	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:22271732C>T	uc010ecx.3	+	3	1349	c.1180C>T	c.(1180-1182)Cat>Tat	p.H394Y	ZNF257_uc010ecy.3_Missense_Mutation_p.H362Y	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	Homo sapiens zinc finger protein 257 (ZNF257), mRNA.	394					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				TAAGAGAATTCATACTAGAGA	0.363000														15			6		0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167245782	167245782	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:167245782C>T	uc003fev.1	-	10	1678	c.1374G>A	c.(1372-1374)aaG>aaA	p.K458K	WDR49_uc003feu.1_Silent_p.K283K|WDR49_uc011bpd.1_Intron|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	Homo sapiens WD repeat domain 49 (WDR49), mRNA.	458										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TGATTTTGTTCTTACTGGAGT	0.358000														41			10		0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78686660	78686660	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:78686660G>A	uc004akc.2	+	6	1278	c.740G>A	c.(739-741)gGa>gAa	p.G247E	PCSK5_uc004ajy.2_Missense_Mutation_p.G247E|PCSK5_uc004ajz.3_Missense_Mutation_p.G247E|PCSK5_uc004aka.3_Non-coding_Transcript	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	247	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity	p.G247E(4)|p.G247*(1)|p.D246D(1)|p.G247R(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						ATGCTGGACGGAGATGTCACG	0.522000														131			28		0	0	1	0	0
FBXO24	26261	broad.mit.edu	37	7	100187827	100187827	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:100187827A>G	uc011kjz.1	+	2	351	c.283A>G	c.(283-285)Aga>Gga	p.R95G	FBXO24_uc010lha.1_Non-coding_Transcript|FBXO24_uc003uvl.1_Missense_Mutation_p.R57G|FBXO24_uc003uvm.1_Missense_Mutation_p.R57G|FBXO24_uc003uvn.1_Intron|LOC100129845_uc011kjy.2_Intron|FBXO24_uc011kka.1_Missense_Mutation_p.R45G	NM_012172	NP_036304	O75426	FBX24_HUMAN	Homo sapiens F-box protein 24 (FBXO24), transcript variant 3, mRNA.	57						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCTCCCAGTCAGAGACCTTGT	0.602000														64			5		0	0	1	0	0
ARL8B	55207	broad.mit.edu	37	3	5214354	5214354	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:5214354C>T	uc003bqg.3	+	3	522	c.301C>T	c.(301-303)Cgt>Tgt	p.R101C	ARL8B_uc011asx.2_Missense_Mutation_p.R92C|ARL8B_uc011asy.2_Missense_Mutation_p.R101C	NM_018184	NP_060654	Q9NVJ2	ARL8B_HUMAN	Homo sapiens ADP-ribosylation factor-like 8B (ARL8B), mRNA.	101					cell cycle|cell division|chromosome segregation|small GTPase mediated signal transduction	late endosome membrane|lysosomal membrane|midbody|spindle midzone	GDP binding|GTP binding|GTPase activity|alpha-tubulin binding|beta-tubulin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)	9				OV - Ovarian serous cystadenocarcinoma(96;0.0717)|Epithelial(13;0.0777)		TGCTGCAGATCGTGAAAAGAT	0.318000														93			14		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216497030	216497030	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:216497030G>A	uc001hku.1	-	7	1723	c.1336C>T	c.(1336-1338)Cca>Tca	p.P446S	USH2A_uc001hkv.3_Missense_Mutation_p.P446S	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	446	Laminin N-terminal.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CGGGAATATGGAGTAAAACTG	0.343000										HNSCC(13;0.011)				66			7		0	0	1	0	0
STEAP4	79689	broad.mit.edu	37	7	87913314	87913314	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:87913314C>T	uc022agz.1	-	2	494	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K	STEAP4_uc003ujs.3_Missense_Mutation_p.E91K|STEAP4_uc010lek.3_Missense_Mutation_p.E91K	NM_001205315	NP_001192244	Q687X5	STEA4_HUMAN	Homo sapiens STEAP family member 4 (STEAP4), transcript variant 2, mRNA.	91					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					TCAGTTAATTCTGTGAGAAAA	0.393000														73			44		0	0	1	0	0
S1PR1	1901	broad.mit.edu	37	1	101705685	101705685	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:101705685C>T	uc021oqt.1	+	0	1145	c.1145C>T	c.(1144-1146)tCc>tTc	p.S382F	S1PR1_uc001dud.2_Missense_Mutation_p.S382F|S1PR1_uc009weg.2_Missense_Mutation_p.S382F	NM_001400	NP_001391	P21453	S1PR1_HUMAN	Homo sapiens sphingosine-1-phosphate receptor 1 (S1PR1), mRNA.	382					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						AACTCTTCTTCCTAGAACTGG	0.532000														38			6		0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28926106	28926106	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr18:28926106G>A	uc002kwp.3	+	13	2257	c.2045G>A	c.(2044-2046)aGg>aAg	p.R682K	DSG1_uc010xbp.2_Missense_Mutation_p.R41K|U6_uc021uin.1_5'Flank	NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	682					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			AATTCTATGAGGGAATGTAGA	0.423000														69			11		0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	119065038	119065038	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:119065038G>A	uc004bjn.3	+	9	3337	c.2956G>A	c.(2956-2958)Gaa>Aaa	p.E986K	PAPPA_uc011lxp.1_Missense_Mutation_p.E681K|PAPPA_uc011lxq.2_Missense_Mutation_p.E361K	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	986					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TTTTGCAGATGAACCCAGCCG	0.443000														22			12		0	0	1	0	0
BEST3	144453	broad.mit.edu	37	12	70070743	70070743	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:70070743G>A	uc001svg.3	-	6	1047	c.820C>T	c.(820-822)Ccc>Tcc	p.P274S	BEST3_uc001svd.2_Missense_Mutation_p.P274S|BEST3_uc001svf.3_Intron|BEST3_uc010stm.2_Missense_Mutation_p.P168S	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA.	274						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GTGAAGATGGGAATGTAAAGA	0.483000														95			21		0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153149817	153149817	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:153149817G>A	uc011dcy.2	+	12	2169	c.2142G>A	c.(2140-2142)atG>atA	p.M714I	GRIA1_uc003lva.4_Missense_Mutation_p.M704I|GRIA1_uc003luy.4_Missense_Mutation_p.M704I|GRIA1_uc003luz.4_Missense_Mutation_p.M609I|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.M624I|GRIA1_uc011dcx.2_Missense_Mutation_p.M635I|GRIA1_uc011dcz.2_Missense_Mutation_p.M714I	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	704					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|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(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AGGAGGGGATGATTCGAGTGA	0.488000														41			9		0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116398635	116398635	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:116398635C>T	uc003vij.3	+	8	2412	c.2225C>T	c.(2224-2226)cCc>cTc	p.P742L	MET_uc022akk.1_Missense_Mutation_p.P742L|MET_uc010lkh.3_Missense_Mutation_p.P742L|MET_uc011kng.1_Missense_Mutation_p.P742L|MET_uc011knh.1_Missense_Mutation_p.P742L|MET_uc011kni.2_Missense_Mutation_p.P742L|MET_uc011knj.2_Missense_Mutation_p.P312L	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	742	IPT/TIG 3.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CGTGAAGATCCCATTGTCTAT	0.368000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)					48			6		0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4854888	4854888	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:4854888G>A	uc003bqc.3	+	55	7836	c.7486G>A	c.(7486-7488)Gag>Aag	p.E2496K	ITPR1_uc021wsi.1_Missense_Mutation_p.E2463K|ITPR1_uc021wsj.1_Missense_Mutation_p.E2448K|ITPR1_uc011asu.2_Missense_Mutation_p.E474K|ITPR1_uc010hcc.2_Missense_Mutation_p.E231K|ITPR1_uc011asv.2_Missense_Mutation_p.E187K	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	2511	Interaction with ERP44 (By similarity).				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GGAGAGTGGGGAGAACTGCTC	0.512000														164			26		0	0	1	0	0
ESPNL	339768	broad.mit.edu	37	2	239039092	239039092	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:239039092C>T	uc002vxq.4	+	8	1847	c.1737C>T	c.(1735-1737)gcC>gcT	p.A579A	ESPNL_uc010fyw.3_Silent_p.A275A	NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN	Homo sapiens espin-like (ESPNL), mRNA.	579										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CTGCGGAGGCCTCAGAGGTGG	0.697000														10			9		0	0	1	0	0
KAT6B	23522	broad.mit.edu	37	10	76781945	76781945	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr10:76781945C>T	uc001jwn.1	+	15	3821	c.3328C>T	c.(3328-3330)Ccc>Tcc	p.P1110S	KAT6B_uc001jwm.1_Missense_Mutation_p.P818S|KAT6B_uc001jwo.1_Missense_Mutation_p.P818S|KAT6B_uc001jwp.1_Missense_Mutation_p.P927S	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	Homo sapiens K(lysine) acetyltransferase 6B (KAT6B), mRNA.	1110					histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										TCAAAGCTCTCCCCCAAGATT	0.423000											OREG0020273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		67			9		0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145435603	145435603	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:145435603C>T	uc003lnt.3	+	7	1620	c.1382C>T	c.(1381-1383)tCc>tTc	p.S461F	SH3RF2_uc011dbl.1_Missense_Mutation_p.S461F|SH3RF2_uc011dbm.1_5'UTR|SH3RF2_uc003lnu.3_5'UTR|SH3RF2_uc011dbn.1_5'UTR	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	461							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGACGTTATCCACCTCCTCT	0.483000														227			46		0	0	1	0	0
CYP4A11	1579	broad.mit.edu	37	1	47400826	47400826	+	Splice_Site	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:47400826C>T	uc001cqp.4	-	6	687	c.636_splice	c.e6-1	p.R212_splice	CYP4A11_uc001cqq.2_Splice_Site_p.R212_splice|CYP4A11_uc010omm.1_Intron	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	212					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	ACTGAGAATTCCTGAGGGAGA	0.517000														89			10		0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	87097661	87097661	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:87097661A>G	uc002blz.1	+	19	2829	c.2749A>G	c.(2749-2751)Aaa>Gaa	p.K917E		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	917					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TCTCGTGGAGAAATCTCGAGC	0.507000														4			2		0	0	1	0	0
CRB2	286204	broad.mit.edu	37	9	126129486	126129486	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:126129486G>A	uc004bnx.1	+	4	882	c.790G>A	c.(790-792)Gag>Aag	p.E264K	CRB2_uc004bnw.1_Missense_Mutation_p.E264K	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	Homo sapiens crumbs homolog 2 (Drosophila) (CRB2), mRNA.	264	EGF-like 6.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						GGACGAGGACGAGTGTGCATC	0.682000														107			19		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38936092	38936092	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:38936092C>T	uc021wvy.1	-	14	2966	c.2767G>A	c.(2767-2769)Gaa>Aaa	p.E923K	SCN11A_uc010hhn.1_Missense_Mutation_p.E39K	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	923					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	ACGTCATCTTCCTCCTCCGCA	0.498000														104			41		0	0	1	0	0
CTSG	1511	broad.mit.edu	37	14	25044523	25044523	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:25044523C>T	uc001wpq.3	-	1	188	c.151G>A	c.(151-153)Ggg>Agg	p.G51R		NM_001911	NP_001902	P08311	CATG_HUMAN	Homo sapiens cathepsin G (CTSG), mRNA.	51	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		ACCAGGAACCCTCCACATCTG	0.607000														136			28		0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22170085	22170085	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:22170085G>A	uc021urr.1	-	2	308	c.159C>T	c.(157-159)atC>atT	p.I53I	ZNF208_uc002nqo.1_Silent_p.I53I|ZNF208_uc002nqq.3_Non-coding_Transcript	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CCAGAAAAATGATCAGGTCTG	0.403000														59			9		0	0	1	0	0
ZNF333	84449	broad.mit.edu	37	19	14826998	14826998	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:14826998G>A	uc002mzn.3	+	8	809	c.675G>A	c.(673-675)agG>agA	p.R225R	ZNF333_uc002mzk.4_Silent_p.R116R|ZNF333_uc010dzr.1_Non-coding_Transcript	NM_032433	NP_115809	Q96JL9	ZN333_HUMAN	Homo sapiens zinc finger protein 333 (ZNF333), mRNA.	225	KRAB 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						CTACTCAGAGGAGCCTGTATA	0.473000														111			27		0	0	1	0	0
CWH43	80157	broad.mit.edu	37	4	48996664	48996664	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:48996664G>A	uc003gyv.3	+	4	722	c.540G>A	c.(538-540)aaG>aaA	p.K180K	CWH43_uc011bzl.2_Silent_p.K153K	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA.	180					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						CTGAAGAAAAGAAGACTGGTG	0.438000														108			9		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2813252	2813252	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:2813252C>T	uc022aqr.1	-	63	10243	c.9853G>A	c.(9853-9855)Gat>Aat	p.D3285N	CSMD1_uc011kwj.2_Missense_Mutation_p.D2615N|CSMD1_uc010lrg.3_Missense_Mutation_p.D1177N	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	3286	Sushi 28.					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)		GCTCTCACATCCGCGTGTGCC	0.478000														109			20		0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20232362	20232362	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr20:20232362C>T	uc002wru.3	+	19	2397	c.2283C>T	c.(2281-2283)atC>atT	p.I761I	C20orf26_uc010zse.2_Silent_p.I741I|C20orf26_uc002wrw.3_Non-coding_Transcript|C20orf26_uc002wrv.3_Silent_p.I117I	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA.	761								p.E760D(1)|p.E760K(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CGGACGAGATCGTGCCCTACG	0.597000														104			25		0	0	1	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16847920	16847920	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:16847920G>A	uc010rcu.1	-	9	1105	c.1090C>T	c.(1090-1092)Ccg>Tcg	p.P364S	PLEKHA7_uc001mmo.3_Missense_Mutation_p.P364S|PLEKHA7_uc001mmn.3_Missense_Mutation_p.P72S	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA.	364					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GGCGAGTACGGAGACCTGGCC	0.602000														66			7		0	0	1	0	0
OR8B12	219858	broad.mit.edu	37	11	124413467	124413467	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:124413467G>A	uc010sam.2	-	0	84	c.84C>T	c.(82-84)ttC>ttT	p.F28F		NM_001005195	NP_001005195	Q8NGG6	OR8BC_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 12 (OR8B12), mRNA.	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		CCAGAAACAGGAAGAAGAGGG	0.532000														76			9		0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92762533	92762533	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:92762533C>T	uc003umh.1	-	4	3968	c.2752G>A	c.(2752-2754)Gaa>Aaa	p.E918K	SAMD9L_uc003umj.1_Missense_Mutation_p.E918K|SAMD9L_uc003umi.1_Missense_Mutation_p.E918K|SAMD9L_uc010lfb.1_Missense_Mutation_p.E918K|SAMD9L_uc003umk.1_Missense_Mutation_p.E918K|SAMD9L_uc010lfc.1_Missense_Mutation_p.E918K|SAMD9L_uc010lfd.1_Missense_Mutation_p.E918K|SAMD9L_uc022ahh.1_Missense_Mutation_p.E918K	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	918										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AGTTGTGCTTCCTTGCTGTCA	0.338000														26			4		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233275475	233275475	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:233275475C>T	uc001hvl.2	-	19	3879	c.3644G>A	c.(3643-3645)cGg>cAg	p.R1215Q	PCNXL2_uc001hvm.1_Non-coding_Transcript|PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc001hvp.1_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1215						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				ACCAAGTCTCCGGTGATTGCT	0.358000														8			3		0	0	1	0	0
WDR17	116966	broad.mit.edu	37	4	177052800	177052800	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:177052800C>T	uc003iuj.3	+	7	1384	c.1081C>T	c.(1081-1083)Cct>Tct	p.P361S	WDR17_uc003ium.4_Missense_Mutation_p.P337S|WDR17_uc003iul.2_Intron	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	Homo sapiens WD repeat domain 17 (WDR17), transcript variant 1, mRNA.	361										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		ATTTTCTCTTCCTCCTGGTCA	0.403000														217			23		0	0	1	0	0
DDX60	55601	broad.mit.edu	37	4	169143005	169143005	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:169143005G>A	uc003irp.3	-	35	5144	c.4852C>T	c.(4852-4854)Cgc>Tgc	p.R1618C	DDX60_uc003iro.3_Missense_Mutation_p.R89C	NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	1618							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		GCCTGAGAGCGATTGACACCG	0.363000														33			6		0	0	1	0	0
SPDYE4	388333	broad.mit.edu	37	17	8658914	8658914	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:8658914C>T	uc010cnz.1	-	3	586	c.409G>A	c.(409-411)Gct>Act	p.A137T		NM_001128076	NP_001121548	A6NLX3	SPDE4_HUMAN	Homo sapiens speedy homolog E4 (Xenopus laevis) (SPDYE4), mRNA.	137										breast(1)|endometrium(2)|kidney(1)	4						ATGACCATAGCCAGGAGATAC	0.522000														211			49		0	0	1	0	0
TLR2	7097	broad.mit.edu	37	4	154626057	154626057	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:154626057C>T	uc003inq.3	+	2	2217	c.1998C>T	c.(1996-1998)ttC>ttT	p.F666F	TLR2_uc003inr.3_Silent_p.F666F|TLR2_uc003ins.3_Silent_p.F666F|TLR2_uc021xtl.1_Silent_p.F666F	NM_003264	NP_003255	O60603	TLR2_HUMAN	Homo sapiens toll-like receptor 2 (TLR2), mRNA.	666	TIR.				I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|induction of apoptosis|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of Wnt receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	Toll-like receptor 1-Toll-like receptor 2 protein complex|cytoplasm|integral to plasma membrane	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				TGGAGAACTTCAATCCCCCCT	0.468000														61			6		0	0	1	0	0
SLITRK6	84189	broad.mit.edu	37	13	86369299	86369299	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr13:86369299C>T	uc001vll.1	-	1	1804	c.1345G>A	c.(1345-1347)Gaa>Aaa	p.E449K	SLITRK6_uc021rla.1_Missense_Mutation_p.E449K	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.	449						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		GGCAGTATTTCCTTAATGGCA	0.353000														26			13		0	0	1	0	0
OR5M3	219482	broad.mit.edu	37	11	56237223	56237223	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:56237223C>T	uc010rjk.2	-	0	792	c.751G>A	c.(751-753)Ggt>Agt	p.G251S	OR8U8_uc001nit.2_Intron	NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 3 (OR5M3), mRNA.	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					ATCAGAGTACCATAGAATATA	0.488000														29			3		0	0	1	0	0
KDM6B	23135	broad.mit.edu	37	17	7752204	7752204	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:7752204C>T	uc002gix.3	+	0	1341	c.504C>T	c.(502-504)tcC>tcT	p.S168S	KDM6B_uc002giw.1_Silent_p.S866S	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	Homo sapiens lysine (K)-specific demethylase 6B (KDM6B), mRNA.	866					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CCTCTGCTTCCTCGTCATCTC	0.721000														46			11		0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115997456	115997456	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:115997456G>A	uc003ibu.3	-	1	1416	c.737C>T	c.(736-738)tCc>tTc	p.S246F	NDST4_uc010imw.3_Intron	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	246	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GCTAGACAAGGATGACAGGGA	0.428000														79			19		0	0	1	0	0
ZSCAN2	54993	broad.mit.edu	37	15	85147260	85147260	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:85147260C>T	uc002bkr.3	+	1	328	c.102C>T	c.(100-102)atC>atT	p.I34I	ZSCAN2_uc002bkp.3_Silent_p.I34I|ZSCAN2_uc002bkq.3_Silent_p.I34I|ZSCAN2_uc010bmz.1_Silent_p.I33I|ZSCAN2_uc010bna.3_Intron|ZSCAN2_uc010uoz.1_Silent_p.I33I|ZSCAN2_uc010uox.1_Silent_p.I33I|ZSCAN2_uc010uoy.1_Silent_p.I33I	NM_181877	NP_870992	Q7Z7L9	ZSCA2_HUMAN	Homo sapiens zinc finger and SCAN domain containing 2 (ZSCAN2), transcript variant 1, mRNA.	34					cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		CCACCATGATCCTGGAGGATG	0.612000														78			14		0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32170021	32170021	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:32170021C>T	uc003obb.3	-	20	3726	c.3587G>A	c.(3586-3588)gGa>gAa	p.G1196E	NOTCH4_uc003oba.3_5'UTR|NOTCH4_uc011dpu.2_Intron|NOTCH4_uc011dpv.2_Intron	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	1196					Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						ATCCCAGTTTCCTCCCGGGCC	0.672000														62			11		0	0	1	0	0
PLCH2	9651	broad.mit.edu	37	1	2430618	2430619	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:2430618_2430619GG>AA	uc001aji.1	+	18	2801_2802	c.2527_2528GG>AA	c.(2527-2529)ggg>AAg	p.G843K	PLCH2_uc010nyz.2_Missense_Mutation_p.G632K|PLCH2_uc009vle.1_Missense_Mutation_p.G596K|PLCH2_uc001ajj.1_Missense_Mutation_p.G632K|PLCH2_uc001ajk.1_Missense_Mutation_p.G632K|PLCH2_uc001ajl.1_5'UTR	NM_014638	NP_055453	O75038	PLCH2_HUMAN	Homo sapiens phospholipase C, eta 2 (PLCH2), mRNA.	844	C2.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		CGATCCCATCGGGCGTGACTTC	0.658000														49			7		0	0	1	0	0
GPR75	10936	broad.mit.edu	37	2	54081075	54081075	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:54081075C>T	uc021vhn.1	-	0	819	c.819G>A	c.(817-819)agG>agA	p.R273R	GPR75-ASB3_uc002rxi.4_Intron|GPR75_uc002rxo.3_Silent_p.R273R	NM_006794	NP_006785	O95800	GPR75_HUMAN	Homo sapiens G protein-coupled receptor 75 (GPR75), mRNA.	273						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AATTCTGGTTCCTATACAGAG	0.547000														39			28		0	0	1	0	0
TFCP2L1	29842	broad.mit.edu	37	2	122005828	122005828	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:122005828C>T	uc002tmx.3	-	4	509	c.416G>A	c.(415-417)gGt>gAt	p.G139D	TFCP2L1_uc010flr.3_Missense_Mutation_p.G139D	NM_014553	NP_055368	Q9NZI6	TF2L1_HUMAN	Homo sapiens transcription factor CP2-like 1 (TFCP2L1), mRNA.	139					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					GTCCAAGATACCAACAGACAG	0.517000														43			18		0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182374525	182374525	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:182374525G>A	uc002unu.3	+	15	2599	c.1836G>A	c.(1834-1836)atG>atA	p.M612I	ITGA4_uc010frj.1_Missense_Mutation_p.M94I	NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	612					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)	AAGACATAATGAAAAAAACAG	0.328000														29			8		0	0	1	0	0
TCRBV21S1	0	broad.mit.edu	37	7	142224084	142224084	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:142224084C>T	uc003vyi.2	-	1	100	c.83G>A	c.(82-84)aGa>aAa	p.R28K	TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		AATCTTATATCTGGGGGACTG	0.448000														32			4		0	0	1	0	0
IL17A	3605	broad.mit.edu	37	6	52051236	52051236	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:52051236C>T	uc003pak.1	+	0	52	c.7C>T	c.(7-9)Cct>Tct	p.P3S		NM_002190	NP_002181	Q16552	IL17_HUMAN	Homo sapiens interleukin 17A (IL17A), mRNA.	3					apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation	extracellular space	cytokine activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					AACGATGACTCCTGGGAAGAC	0.483000														37			7		0	0	1	0	0
REEP1	65055	broad.mit.edu	37	2	86459843	86459843	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:86459843G>A	uc021vke.1	-	5	528	c.521C>T	c.(520-522)cCc>cTc	p.P174L	REEP1_uc002srh.4_Missense_Mutation_p.P167L|REEP1_uc010yth.2_Missense_Mutation_p.P140L|REEP1_uc010yti.2_Missense_Mutation_p.P89S|REEP1_uc010ytg.2_Missense_Mutation_p.P146L	NM_001164730	NP_001158202	Q9H902	REEP1_HUMAN	Homo sapiens receptor accessory protein 1 (REEP1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	167					cell death|protein insertion into membrane	integral to membrane|mitochondrial membrane	olfactory receptor binding			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	13						GGGGCCCGAGGGAGCAGGGGC	0.652000														35			44		0	0	1	0	0
PRDM1	639	broad.mit.edu	37	6	106543594	106543594	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:106543594G>A	uc003prd.2	+	2	630	c.396G>A	c.(394-396)agG>agA	p.R132R		NM_001198	NP_001189	O75626	PRDM1_HUMAN	Homo sapiens PR domain containing 1, with ZNF domain (PRDM1), transcript variant 1, mRNA.	132	SET.				negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		ACGCCAACAGGAAATATTTTT	0.408000			"""D, N, Mis, F, S"""		DLBCL									25			17		0	0	1	0	0
WWC2	80014	broad.mit.edu	37	4	184190176	184190176	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:184190176C>T	uc010irx.3	+	14	2442	c.2260C>T	c.(2260-2262)Cgc>Tgc	p.R754C	WWC2_uc003ivk.4_Missense_Mutation_p.R549C|WWC2_uc003ivl.4_Non-coding_Transcript|WWC2_uc010iry.3_Missense_Mutation_p.R436C|WWC2_uc003ivn.4_Missense_Mutation_p.R269C|WWC2_uc010irz.3_Missense_Mutation_p.R71C	NM_024949	NP_079225	Q6AWC2	WWC2_HUMAN	Homo sapiens WW and C2 domain containing 2 (WWC2), mRNA.	754	C2.							p.R754S(2)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		CTGTCTGTTTCGCACAAAAGT	0.398000														183			19		0	0	1	0	0
DRD5	1816	broad.mit.edu	37	4	9784493	9784493	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:9784493C>T	uc003gmb.4	+	0	1236	c.840C>T	c.(838-840)ccC>ccT	p.P280P		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	280					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		p.A279T(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CCTGCGCGCCCGACACCAGCC	0.637000														30			10		0	0	1	0	0
CREB5	9586	broad.mit.edu	37	7	28610022	28610022	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:28610022G>A	uc003szq.3	+	4	721	c.331G>A	c.(331-333)Ggg>Agg	p.G111R	CREB5_uc003szo.3_Missense_Mutation_p.G78R|CREB5_uc003szr.3_Missense_Mutation_p.G104R	NM_182898	NP_878902	Q02930	CREB5_HUMAN	Homo sapiens cAMP responsive element binding protein 5 (CREB5), transcript variant 1, mRNA.	111					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T110T(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						GGCCATGACGGGGCCCGGAAC	0.537000														106			13		0	0	1	0	0
KRT23	25984	broad.mit.edu	37	17	39084802	39084802	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:39084802C>T	uc002hvm.1	-	4	1283	c.694G>A	c.(694-696)Ggt>Agt	p.G232S	KRT23_uc010wfl.1_Missense_Mutation_p.G95S|KRT23_uc010cxf.1_Missense_Mutation_p.G19S|KRT23_uc010cxg.3_Missense_Mutation_p.G232S|KRT23_uc002hvn.1_Missense_Mutation_p.G232S	NM_015515	NP_056330	Q9C075	K1C23_HUMAN	Homo sapiens keratin 23 (histone deacetylase inducible) (KRT23), mRNA.	232	Linker 12.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				TCCCTGGGACCTGTATCCACC	0.398000														138			33		0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30318367	30318367	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr10:30318367G>A	uc009xle.2	-	2	847	c.710C>T	c.(709-711)tCc>tTc	p.S237F	KIAA1462_uc001iux.3_Missense_Mutation_p.S237F|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.S99F	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	237										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GCTCTCGGGGGAAAGAACTCT	0.463000														136			25		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68942750	68942751	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:68942750_68942751CC>TT	uc003xxv.1	+	5	589_590	c.562_563CC>TT	c.(562-564)cca>TTa	p.P188L	PREX2_uc003xxu.1_Missense_Mutation_p.P188L|PREX2_uc011lez.1_Missense_Mutation_p.P123L	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	188	DH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GAAGCGGACTCCACGGAAACAC	0.455000														30			8		0	0	1	0	0
CYP3A43	64816	broad.mit.edu	37	7	99447299	99447299	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:99447299C>T	uc003ury.1	+	6	755	c.652C>T	c.(652-654)Ccc>Tcc	p.P218S	CYP3A43_uc003urx.1_Missense_Mutation_p.P218S|CYP3A43_uc003urz.1_Missense_Mutation_p.P218S|CYP3A43_uc003usa.1_Non-coding_Transcript|CYP3A43_uc010lgi.1_Intron|CYP3A43_uc003usb.1_Missense_Mutation_p.S80F	NM_022820	NP_073731	Q9HB55	CP343_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 43 (CYP3A43), transcript variant 1, mRNA.	218			Missing (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding	p.D217N(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	TTTTTTGGATCCCTTTTTACT	0.303000														30			4		0	0	1	0	0
CCBP2	1238	broad.mit.edu	37	3	42906109	42906109	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:42906109G>A	uc003cme.3	+	2	293	c.115G>A	c.(115-117)Gat>Aat	p.D39N	CCBP2_uc003cmf.3_Missense_Mutation_p.D39N|CCBP2_uc003cmg.3_Intron|CCBP2_uc021wwm.1_Missense_Mutation_p.D39N	NM_001296	NP_001287	O00590	CCBP2_HUMAN	Homo sapiens chemokine binding protein 2 (CCBP2), mRNA.	39					chemotaxis|immune response|multicellular organismal development	integral to plasma membrane	C-X-C chemokine receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(10)|skin(2)|urinary_tract(1)	26				KIRC - Kidney renal clear cell carcinoma(284;0.241)		CTGCAGGAAGGATGCAGTGGT	0.512000														111			23		0	0	1	0	0
ADRA1D	146	broad.mit.edu	37	20	4228549	4228549	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr20:4228549G>A	uc002wkr.2	-	0	1111	c.1056C>T	c.(1054-1056)atC>atT	p.I352I		NM_000678	NP_000669	P25100	ADA1D_HUMAN	Homo sapiens adrenergic, alpha-1D-, receptor (ADRA1D), mRNA.	352					DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|cell proliferation|cell-cell signaling|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)	CACCCACGACGATGGCCAGAG	0.637000														16			4		0	0	1	0	0
USP18	11274	broad.mit.edu	37	22	18643005	18643005	+	Missense_Mutation	SNP	T	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr22:18643005T>A	uc002zny.3	+	2	562	c.224T>A	c.(223-225)aTg>aAg	p.M75K		NM_017414	NP_059110	Q9UMW8	UBP18_HUMAN	Homo sapiens ubiquitin specific peptidase 18 (USP18), mRNA.	75					regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway|ubiquitin-dependent protein catabolic process	cytosol|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|stomach(1)	10						GTGTTCGTAATGAATGTGGAC	0.413000														115			27		0	0	1	0	0
SEMA3E	9723	broad.mit.edu	37	7	83029535	83029535	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:83029535C>T	uc003uhy.2	-	10	1796	c.1175G>A	c.(1174-1176)gGa>gAa	p.G392E	SEMA3E_uc022agy.1_Missense_Mutation_p.G332E	NM_012431	NP_001171600	O15041	SEM3E_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.	392	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				CTTGGTGGTTCCGTATCTCCC	0.383000														100			7		0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87680323	87680323	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:87680323C>T	uc003ydx.3	-	4	615	c.567G>A	c.(565-567)tgG>tgA	p.W189*	CNGB3_uc010maj.3_Nonsense_Mutation_p.W51*	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	189					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TGACTTTGAACCACAACAGCC	0.368000														91			23		0	0	1	0	0
KCTD20	222658	broad.mit.edu	37	6	36438023	36438023	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:36438023C>T	uc003ome.3	+	1	540	c.149C>T	c.(148-150)cCc>cTc	p.P50L	KCTD20_uc011dtn.2_5'UTR|KCTD20_uc010jwk.3_Missense_Mutation_p.P50L|KCTD20_uc011dto.2_Intron|KCTD20_uc011dtm.2_5'UTR	NM_173562	NP_775833	Q7Z5Y7	KCD20_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 20 (KCTD20), mRNA.	50						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.P50P(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						CCTCTAGGTCCCAGGAATGAA	0.423000														95			22		0	0	1	0	0
ZNF408	79797	broad.mit.edu	37	11	46726695	46726695	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:46726695C>T	uc001nde.2	+	4	1726	c.1445C>T	c.(1444-1446)tCc>tTc	p.S482F	ZNF408_uc010rgw.2_Missense_Mutation_p.S474F	NM_024741	NP_079017	Q9H9D4	ZN408_HUMAN	Homo sapiens zinc finger protein 408 (ZNF408), transcript variant 1, mRNA.	482					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AACCAGGGCTCCCTGCGGAAC	0.672000														91			24		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152285639	152285639	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:152285639C>T	uc001ezu.1	-	2	1759	c.1723G>A	c.(1723-1725)Gaa>Aaa	p.E575K	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	575	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.E574D(1)|p.E574K(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTGATTGTTCCTCATTTCGT	0.557000									Ichthyosis					430			75		0	0	1	0	0
AURKB	9212	broad.mit.edu	37	17	8108642	8108642	+	Missense_Mutation	SNP	A	C	C			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:8108642A>C	uc002gkn.3	-	7	817	c.756T>G	c.(754-756)aaT>aaG	p.N252K	AURKB_uc021tpy.1_Missense_Mutation_p.N219K|AURKB_uc010cnu.3_Missense_Mutation_p.N71K|AURKB_uc002gkm.3_Missense_Mutation_p.N251K|AURKB_uc010vuu.2_Missense_Mutation_p.N210K|AURKB_uc002gko.3_Non-coding_Transcript	NM_004217	NP_004208	Q96GD4	AURKB_HUMAN	Homo sapiens aurora kinase B (AURKB), mRNA.	251	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|mitotic prometaphase|protein localization to kinetochore	chromosome passenger complex|condensed nuclear chromosome, centromeric region|cytosol|spindle	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|lung(2)	4						CCACCTTCTCATTGTGCATGC	0.577000														114			26		0	0	1	0	0
RECQL	5965	broad.mit.edu	37	12	21643307	21643307	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:21643307G>A	uc001rex.3	-	4	568	c.220C>T	c.(220-222)Cca>Tca	p.P74S	RECQL_uc001rey.3_Missense_Mutation_p.P74S	NM_032941	NP_116559	P46063	RECQ1_HUMAN	Homo sapiens RecQ protein-like (DNA helicase Q1-like) (RECQL), transcript variant 2, mRNA.	74					DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						CCAGACCATGGAAAATCTAGG	0.303000								Other identified genes with known or suspected DNA repair function						21			4		0	0	1	0	0
OR13H1	347468	broad.mit.edu	37	X	130678815	130678815	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chrX:130678815C>T	uc011muw.2	+	0	768	c.768C>T	c.(766-768)tcC>tcT	p.S256S	IGSF1_uc004ewf.2_Intron	NM_001004486	NP_001004486	Q8NG92	O13H1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily H, member 1 (OR13H1), mRNA.	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					CAGCCATCTCCATGTATATGA	0.473000														47			25		0	0	1	0	0
AMPD3	272	broad.mit.edu	37	11	10515084	10515084	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:10515084C>T	uc001min.1	+	6	1500	c.1155C>T	c.(1153-1155)gtC>gtT	p.V385V	AMPD3_uc010rbz.1_Silent_p.V217V|AMPD3_uc009yfw.1_Non-coding_Transcript|AMPD3_uc001mio.1_Silent_p.V376V|AMPD3_uc009yfz.2_Non-coding_Transcript|AMPD3_uc001mip.1_Silent_p.V383V|AMPD3_uc009yfy.2_Silent_p.V376V	NM_000480	NP_001165902	Q01432	AMPD3_HUMAN	Homo sapiens adenosine monophosphate deaminase 3 (AMPD3), transcript variant 1, mRNA.	376					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		CACTGGATGTCCACGCGGTGA	0.637000														45			11		0	0	1	0	0
UGT3A2	167127	broad.mit.edu	37	5	36049429	36049429	+	Silent	SNP	C	T	T	rs147027144		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:36049429C>T	uc003jjz.2	-	3	537	c.405G>A	c.(403-405)aaG>aaA	p.K135K	UGT3A2_uc011cos.2_Silent_p.K101K|UGT3A2_uc011cot.2_Intron	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	135						integral to membrane	glucuronosyltransferase activity	p.K135K(2)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGTTCTCATTCTTTAAGGAAT	0.363000														32			5		0	0	1	0	0
WBP11P1	441818	broad.mit.edu	37	18	30093406	30093406	+	RNA	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr18:30093406C>T	uc010dmc.3	+	0		c.1781C>T								Homo sapiens WW domain binding protein 11 pseudogene 1 (WBP11P1), non-coding RNA.																		CCCACCAGCTCCCTTGCTGAA	0.517000														50			9		0	0	1	0	0
LIMCH1	22998	broad.mit.edu	37	4	41648255	41648255	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:41648255G>A	uc003gvz.4	+	15	2786	c.2369G>A	c.(2368-2370)cGa>cAa	p.R790Q	LIMCH1_uc003gwe.4_Missense_Mutation_p.R405Q|LIMCH1_uc003gvu.4_Missense_Mutation_p.R405Q|LIMCH1_uc003gvv.4_Missense_Mutation_p.R405Q|LIMCH1_uc003gvw.4_Missense_Mutation_p.R405Q|LIMCH1_uc003gvx.4_Missense_Mutation_p.R393Q|LIMCH1_uc003gvy.4_Missense_Mutation_p.R234Q|LIMCH1_uc003gwa.4_Missense_Mutation_p.R246Q|LIMCH1_uc011byu.2_Missense_Mutation_p.R239Q|LIMCH1_uc003gwc.4_Missense_Mutation_p.R251Q|LIMCH1_uc003gwd.4_Missense_Mutation_p.R239Q|LIMCH1_uc011byv.2_Missense_Mutation_p.R156Q	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	405	Glu-rich.				actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						ACAAGTGAACGAAGGAAAAGC	0.348000														26			12		0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152188442	152188442	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:152188442C>T	uc001ezt.1	-	2	5739	c.5663G>A	c.(5662-5664)gGa>gAa	p.G1888E		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	1888					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGAGCCAGATCCATGCTGAGT	0.537000														749			27		0	0	1	0	0
MAST2	23139	broad.mit.edu	37	1	46295125	46295125	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:46295125C>T	uc001cov.3	+	2	623	c.340C>T	c.(340-342)Cct>Tct	p.P114S	MAST2_uc001cow.3_Missense_Mutation_p.P114S	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 2 (MAST2), mRNA.	114					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GCAGCTGCTCCCTTTGTCCAG	0.398000														48			11		0	0	1	0	0
SLC16A9	220963	broad.mit.edu	37	10	61444018	61444018	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr10:61444018C>T	uc010qig.1	-	1	481	c.32G>A	c.(31-33)tGg>tAg	p.W11*		NM_194298	NP_919274	Q7RTY1	MOT9_HUMAN	Homo sapiens solute carrier family 16, member 9 (monocarboxylic acid transporter 9) (SLC16A9), mRNA.	11					urate metabolic process	integral to membrane|plasma membrane	symporter activity			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						CACCCAGCCCCATCCACCGTC	0.438000														67			13		0	0	1	0	0
DCTN1	1639	broad.mit.edu	37	2	74597837	74597837	+	Missense_Mutation	SNP	G	A	A	rs149526947		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:74597837G>A	uc002skx.3	-	9	1277	c.959C>T	c.(958-960)tCc>tTc	p.S320F	DCTN1_uc002skv.3_Missense_Mutation_p.S186F|DCTN1_uc002sku.3_Missense_Mutation_p.S186F|DCTN1_uc002skw.2_Missense_Mutation_p.S313F|DCTN1_uc010ffd.3_Missense_Mutation_p.S300F|DCTN1_uc002sky.3_Missense_Mutation_p.S283F	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	Homo sapiens dynactin 1 (DCTN1), transcript variant 1, mRNA.	320					G2/M transition of mitotic cell cycle|cell death|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	p.S320F(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						CTGCTGCAGGGACTCAGCCCG	0.557000														162			64		0	0	1	0	0
ENPP6	133121	broad.mit.edu	37	4	185074732	185074732	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:185074732C>T	uc003iwc.3	-	1	538	c.396G>A	c.(394-396)agG>agA	p.R132R		NM_153343	NP_699174	Q6UWR7	ENPP6_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 6 (ENPP6), mRNA.	132					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		TGTAGACCTTCCTTTTGGCCT	0.473000														64			5		0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18435579	18435579	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:18435579G>A	uc001rdt.3	+	1	680	c.564G>A	c.(562-564)ccG>ccA	p.P188P	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Silent_p.P188P|PIK3C2G_uc010sic.2_5'UTR	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	188					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				ACTTCATGCCGAAAGAAGAGA	0.378000														86			22		0	0	1	0	0
OSM	5008	broad.mit.edu	37	22	30659890	30659890	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr22:30659890C>T	uc003ahb.3	-	2	782	c.741G>A	c.(739-741)agG>agA	p.R247R		NM_020530	NP_065391	P13725	ONCM_HUMAN	Homo sapiens oncostatin M (OSM), mRNA.	247					cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of MAPKKK cascade|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth	extracellular space|oncostatin-M receptor complex	cytokine activity|growth factor activity|oncostatin-M receptor binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|skin(3)	11			Epithelial(10;0.206)			GCAGCTGTCCCCTGGTCATGA	0.657000														203			40		0	0	1	0	0
SPIN1	10927	broad.mit.edu	37	9	91041469	91041469	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:91041469C>T	uc010mqj.3	+	1	515	c.15C>T	c.(13-15)ttC>ttT	p.F5F	SPIN1_uc004apy.3_Silent_p.F5F|SPIN1_uc004apz.3_Silent_p.F5F|SPIN1_uc010mqk.3_Silent_p.F5F	NM_006717	NP_006708	Q9Y657	SPIN1_HUMAN	Homo sapiens spindlin 1 (SPIN1), mRNA.	5					cell cycle|gamete generation|multicellular organismal development	nucleus	methylated histone residue binding			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						AGACCCCATTCGGAAAGACAC	0.388000														36			5		0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88965860	88965860	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:88965860C>T	uc011khi.2	+	3	4102	c.3564C>T	c.(3562-3564)gcC>gcT	p.A1188A		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	Homo sapiens zinc finger protein 804B (ZNF804B), mRNA.	1188						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GGCCTACTGCCTTCTCTCCGG	0.488000										HNSCC(36;0.09)				74			13		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82474594	82474594	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:82474594C>T	uc003uhx.2	-	12	14328	c.14039G>A	c.(14038-14040)aGc>aAc	p.S4680N	PCLO_uc003uhv.2_Missense_Mutation_p.S4680N|PCLO_uc003uht.1_Missense_Mutation_p.S131N|PCLO_uc003uhu.1_Missense_Mutation_p.S110N	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4568					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						CACCTTGCTGCTGCCGTGCTT	0.458000														27			3		0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169791714	169791714	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:169791714G>A	uc002ueo.1	-	22	3162	c.3036C>T	c.(3034-3036)ctC>ctT	p.L1012L	ABCB11_uc010zda.1_Silent_p.L454L|ABCB11_uc010zdb.1_Silent_p.L488L	NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	1012	ABC transmembrane type-1 2.				bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	AGCTGAAATGGAGCCCCTCAT	0.423000														113			46		0	0	1	0	0
MAPK4	5596	broad.mit.edu	37	18	48248376	48248376	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr18:48248376G>A	uc002lev.3	+	3	1760	c.760G>A	c.(760-762)Gac>Aac	p.D254N	MAPK4_uc010xdm.2_Missense_Mutation_p.D43N|MAPK4_uc010doz.3_Intron	NM_002747	NP_002738	P31152	MK04_HUMAN	Homo sapiens mitogen-activated protein kinase 4 (MAPK4), mRNA.	254	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		GGAAGACAAGGACGAGCTGCT	0.577000														45			14		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176563735	176563735	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:176563735G>A	uc001gkz.3	+	2	2159	c.995G>A	c.(994-996)gGa>gAa	p.G332E	PAPPA2_uc001gky.1_Missense_Mutation_p.G332E|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	332					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AAGGACAAGGGAAAGCGGGAT	0.562000														49			10		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152281004	152281004	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:152281004C>T	uc001ezu.1	-	2	6394	c.6358G>A	c.(6358-6360)Gat>Aat	p.D2120N		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2120	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTGCCTGATCATAATGGGAT	0.572000									Ichthyosis					309			50		0	0	1	0	0
DDX3X	1654	broad.mit.edu	37	X	41202524	41202524	+	Missense_Mutation	SNP	A	C	C			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chrX:41202524A>C	uc004dfe.3	+	6	1454	c.599A>C	c.(598-600)tAt>tCt	p.Y200S	DDX3X_uc010nhf.1_Missense_Mutation_p.Y184S|DDX3X_uc011mks.2_Intron|DDX3X_uc004dff.3_Missense_Mutation_p.Y200S|DDX3X_uc011mkq.2_Missense_Mutation_p.Y184S|DDX3X_uc011mkr.2_Missense_Mutation_p.Y200S|DDX3X_uc004dfg.3_Non-coding_Transcript|DDX3X_uc011mkt.1_Non-coding_Transcript	NM_001356	NP_001347	O00571	DDX3X_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked (DDX3X), transcript variant 1, mRNA.	200					interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|RNA binding|protein binding	p.R199P(1)		NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						CTTACTCGTTATACTCGCCCA	0.398000										HNSCC(61;0.18)				26			24		0	0	1	0	0
IGF2BP2	10644	broad.mit.edu	37	3	185407293	185407293	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:185407293G>A	uc003fpo.3	-	5	606	c.527C>T	c.(526-528)tCc>tTc	p.S176F	IGF2BP2_uc010hyi.3_Missense_Mutation_p.S119F|IGF2BP2_uc010hyj.3_Missense_Mutation_p.S113F|IGF2BP2_uc010hyk.3_Missense_Mutation_p.S40F|IGF2BP2_uc010hyl.3_Missense_Mutation_p.S113F|IGF2BP2_uc003fpp.3_Missense_Mutation_p.S176F|IGF2BP2_uc003fpq.3_Missense_Mutation_p.S181F	NM_006548	NP_006539	Q9Y6M1	IF2B2_HUMAN	Homo sapiens insulin-like growth factor 2 mRNA binding protein 2 (IGF2BP2), transcript variant 1, mRNA.	176					anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			TTGCTCCCGGGAAGAGTGGTC	0.597000														133			20		0	0	1	0	0
ADSSL1	122622	broad.mit.edu	37	14	105208283	105208283	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:105208283G>A	uc001ypd.3	+	8	966	c.892G>A	c.(892-894)Gtg>Atg	p.V298M	ADSSL1_uc001ype.3_Missense_Mutation_p.V341M|ADSSL1_uc001ypf.3_Non-coding_Transcript	NM_152328	NP_689541	Q8N142	PURA1_HUMAN	Homo sapiens adenylosuccinate synthase like 1 (ADSSL1), transcript variant 2, mRNA.	298					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	GTP binding|adenylosuccinate synthase activity|magnesium ion binding|phosphate binding			central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	L-Aspartic Acid(DB00128)	GTATGGCGTGGTGAAAGCCTA	0.642000														199			66		0	0	1	0	0
FAM75C1	441452	broad.mit.edu	37	9	90537092	90537092	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:90537092C>T	uc010mqi.3	+	3	2299	c.2270C>T	c.(2269-2271)tCa>tTa	p.S757L	FAM75C1_uc004apq.4_Missense_Mutation_p.S740L|DQ578031_uc022bjg.1_5'Flank	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		ATCCCATCTTCAAATGATCAT	0.572000														39			11		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197446814	197446814	+	Silent	SNP	C	T	T	rs142057392		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:197446814C>T	uc001gtz.3	+	11	4235	c.4026C>T	c.(4024-4026)tcC>tcT	p.S1342S	CRB1_uc010poz.2_Silent_p.S1318S|CRB1_uc009wza.3_Silent_p.S1230S|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Silent_p.S806S|CRB1_uc010ppd.2_Silent_p.S823S	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	1342					cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ACTTGATCTCCGACATTTTCA	0.433000														37			7		0	0	1	0	0
TMEM130	222865	broad.mit.edu	37	7	98445848	98445848	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:98445848G>A	uc003upo.3	-	7	1328	c.1139C>T	c.(1138-1140)tCc>tTc	p.S380F	TMEM130_uc011kiq.2_Intron|TMEM130_uc011kir.2_Intron|TMEM130_uc003upn.3_Intron	NM_001134450	NP_001127922	Q8N3G9	TM130_HUMAN	Homo sapiens transmembrane protein 130 (TMEM130), transcript variant 1, mRNA.	380						Golgi membrane|integral to membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AGACATGGGGGAAAAGTCAAA	0.567000														27			21		0	0	1	0	0
MYO10	4651	broad.mit.edu	37	5	16701236	16701236	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:16701236C>T	uc003jft.4	-	24	3736	c.3268G>A	c.(3268-3270)Gac>Aac	p.D1090N	MYO10_uc011cnc.2_5'Flank|MYO10_uc011cnd.2_Missense_Mutation_p.D447N|MYO10_uc011cne.2_Missense_Mutation_p.D447N|MYO10_uc010itx.3_Missense_Mutation_p.D713N	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	Homo sapiens myosin X (MYO10), mRNA.	1090					axon guidance|signal transduction	myosin complex	ATP binding|actin binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TGGTCGTAGTCGTAGTCGCCG	0.632000														13			5		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140166202	140166202	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:140166202C>T	uc003lhb.2	+	0	327	c.327C>T	c.(325-327)atC>atT	p.I109I	PCDHAC2_uc003lha.2_Silent_p.I109I|PCDHAC2_uc003lgz.3_Silent_p.I109I	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	124	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGTTGATCGCCGACAGGC	0.498000														150			25		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38627269	38627269	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:38627269G>A	uc021wvo.1	-	14	2752	c.2700C>T	c.(2698-2700)atC>atT	p.I900I	SCN5A_uc021wvk.1_Silent_p.I900I|SCN5A_uc021wvl.1_Silent_p.I900I|SCN5A_uc021wvm.1_Silent_p.I900I|SCN5A_uc021wvn.1_Silent_p.I900I|SCN5A_uc021wvp.1_Silent_p.I900I|SCN5A_uc021wvq.1_Silent_p.I900I|SCN5A_uc021wvr.1_Silent_p.I900I|SCN5A_uc021wvs.1_Silent_p.I900I|SCN5A_uc021wvt.1_Silent_p.I900I|SCN5A_uc021wvu.1_Silent_p.I900I|SCN5A_uc021wvv.1_Silent_p.I900I|SCN5A_uc021wvj.1_Silent_p.I766I|SCN5A_uc021wvi.1_Silent_p.I766I|SCN5A_uc021wvw.1_Silent_p.I511I	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	900					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	ACATGGTCTCGATCCACTCTC	0.542000														118			52		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92534138	92534138	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:92534138C>T	uc001pdj.4	+	8	7976	c.7959C>T	c.(7957-7959)atC>atT	p.I2653I		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	2653	Cadherin 24.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.I2653I(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCCTGGAAATCGATCCTGACA	0.463000										TCGA Ovarian(4;0.039)				11			6		0	0	1	0	0
OR7C2	26658	broad.mit.edu	37	19	15052838	15052838	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:15052838G>A	uc010xoc.2	+	0	538	c.538G>A	c.(538-540)Gat>Aat	p.D180N		NM_012377	NP_036509	O60412	OR7C2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily C, member 2 (OR7C2), mRNA.	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					CTTTTTTTGTGATCCTTCCGA	0.468000														132			28		0	0	1	0	0
RPL10L	140801	broad.mit.edu	37	14	47120418	47120418	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:47120418C>T	uc001wwg.3	-	0	611	c.522G>A	c.(520-522)acG>acA	p.T174T		NM_080746	NP_542784	Q96L21	RL10L_HUMAN	Homo sapiens ribosomal protein L10-like (RPL10L), mRNA.	174					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						CATTAAACTTCGTGAAGCCCC	0.507000														119			25		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21014453	21014453	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:21014453C>T	uc010vbe.2	-	41	6099	c.6099G>A	c.(6097-6099)gaG>gaA	p.E2033E		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2033					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTTTTTCCTCCTCTTTGGTGA	0.388000														90			18		0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24358356	24358356	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:24358356C>T	uc003xeb.3	+	18	2169	c.2056C>T	c.(2056-2058)Ctt>Ttt	p.L686F	ADAM7_uc003xec.3_Missense_Mutation_p.L458F	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	686					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TATCGGAGTTCTTATACTATT	0.378000														66			7		0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197184479	197184479	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:197184479C>T	uc002utm.1	-	8	1318	c.1135G>A	c.(1135-1137)Gat>Aat	p.D379N	HECW2_uc002utl.1_Missense_Mutation_p.D23N	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	379					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GGGGTTCCATCGGCAGCACTG	0.542000														110			10		0	0	1	0	0
ABCC2	1244	broad.mit.edu	37	10	101569906	101569906	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr10:101569906G>A	uc001kqf.2	+	13	1970	c.1831G>A	c.(1831-1833)Gag>Aag	p.E611K		NM_000392	NP_000383	Q92887	MRP2_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 2 (ABCC2), mRNA.	611						apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TGTTTCCACAGAGCGGCTAGA	0.433000														46			11		0	0	1	0	0
CD200	4345	broad.mit.edu	37	3	112066513	112066513	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:112066513C>T	uc003dyw.3	+	4	749	c.605C>T	c.(604-606)tCa>tTa	p.S202L	CD200_uc010hqd.1_Missense_Mutation_p.S61L|CD200_uc003dyx.3_Missense_Mutation_p.S177L|CD200_uc003dyz.3_Missense_Mutation_p.S103L|CD200_uc003dyy.3_Missense_Mutation_p.S61L	NM_001004196	NP_001004196	P41217	OX2G_HUMAN	Homo sapiens CD200 molecule (CD200), transcript variant 2, mRNA.	177	Ig-like C2-type.				regulation of immune response	integral to plasma membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05)				GTCCCTCGGTCAGGGATTGAA	0.498000														96			17		0	0	1	0	0
OR13F1	138805	broad.mit.edu	37	9	107267137	107267137	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:107267137C>T	uc011lvm.2	+	0	594	c.594C>T	c.(592-594)atC>atT	p.I198I		NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily F, member 1 (OR13F1), mRNA.	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TGCAGTTAATCATGCTGGTGA	0.438000														171			38		0	0	1	0	0
FOXK2	3607	broad.mit.edu	37	17	80559180	80559181	+	Missense_Mutation	DNP	CG	TT	TT	rs61737961		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:80559180_80559181CG>TT	uc002kfn.3	+	8	1959_1960	c.1788_1789CG>TT	c.(1786-1791)gccgcg>gcTTcg	p.A597S	FOXK2_uc010diu.3_Missense_Mutation_p.P304L|FOXK2_uc002kfo.3_Non-coding_Transcript|FOXK2_uc002kfp.3_Non-coding_Transcript	NM_004514	NP_004505	Q01167	FOXK2_HUMAN	Homo sapiens forkhead box K2 (FOXK2), mRNA.	597					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			TCATTTCAGCCGCGGCGAGTCC	0.629000														63			14		0	0	1	0	0
SLC9C2	284525	broad.mit.edu	37	1	173556818	173556818	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:173556818G>A	uc001giz.2	-	4	932	c.509C>T	c.(508-510)tCa>tTa	p.S170L	SLC9C2_uc010pmq.1_Non-coding_Transcript	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	170					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										AGTTTTTAGTGAATTCACAGA	0.299000														40			11		0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139674277	139674277	+	Missense_Mutation	SNP	C	T	T	rs146190475	byFrequency	TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:139674277C>T	uc003yvd.3	-	42	3683	c.3236G>A	c.(3235-3237)cGg>cAg	p.R1079Q	COL22A1_uc011ljo.2_Missense_Mutation_p.R359Q	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	1079	Collagen-like 9.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			ACTTACGTCCCGGCCGGCTGG	0.542000										HNSCC(7;0.00092)				62			14		0	0	1	0	0
LRRC17	10234	broad.mit.edu	37	7	102574760	102574760	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:102574760C>T	uc003vau.3	+	1	789	c.400C>T	c.(400-402)Ctc>Ttc	p.L134F	FBXL13_uc010liq.1_Intron|FBXL13_uc003vaq.2_Intron|FBXL13_uc010lir.1_Intron|FBXL13_uc003var.2_Intron|FBXL13_uc003vas.2_Intron|LRRC17_uc003vat.3_Missense_Mutation_p.L134F	NM_001031692	NP_001026862	Q8N6Y2	LRC17_HUMAN	Homo sapiens leucine rich repeat containing 17 (LRRC17), transcript variant 1, mRNA.	134					bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						ACTCACCACCCTCTTACTGCA	0.443000														37			19		0	0	1	0	0
PLOD3	8985	broad.mit.edu	37	7	100855617	100855617	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:100855617C>T	uc003uyd.3	-	9	1500	c.1044G>A	c.(1042-1044)ccG>ccA	p.P348P		NM_001084	NP_001075	O60568	PLOD3_HUMAN	Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 (PLOD3), mRNA.	348					protein modification process	rough endoplasmic reticulum membrane	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	CCTGGAGCTGCGGCCAGGAGT	0.662000														140			18		0	0	1	0	0
LRP8	7804	broad.mit.edu	37	1	53741397	53741397	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:53741397G>A	uc001cvi.2	-	5	1149	c.912C>T	c.(910-912)ttC>ttT	p.F304F	LRP8_uc001cvh.2_5'UTR|LRP8_uc001cvj.2_Silent_p.F304F|LRP8_uc001cvk.2_Intron|LRP8_uc001cvl.2_Silent_p.F175F	NM_004631	NP_004622	Q14114	LRP8_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 8, apolipoprotein e receptor (LRP8), transcript variant 1, mRNA.	304	LDL-receptor class A 7.				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						CCCCACACTGGAACTCGTCCC	0.592000														46			8		0	0	1	0	0
SLC10A1	6554	broad.mit.edu	37	14	70263654	70263654	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:70263654G>A	uc001xlr.2	-	0	353	c.219C>T	c.(217-219)ccC>ccT	p.P73P		NM_003049	NP_003040	Q14973	NTCP_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 1 (SLC10A1), mRNA.	73					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)	14				all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226)		AGGCCGTGAGGGGCATGATGC	0.577000														53			13		0	0	1	0	0
RAD54B	25788	broad.mit.edu	37	8	95392468	95392468	+	Silent	SNP	A	G	G			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:95392468A>G	uc003ygk.3	-	11	2283	c.2152T>C	c.(2152-2154)Tta>Cta	p.L718L	RAD54B_uc010may.2_Silent_p.L534L	NM_012415	NP_001192192	O95073	FSBP_HUMAN	Homo sapiens RAD54 homolog B (S. cerevisiae) (RAD54B), transcript variant 1, mRNA.	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			TTTGAACTTAACAAAAAAATA	0.378000								Direct reversal of damage;Homologous recombination						41			9		0	0	1	0	0
CPNE5	57699	broad.mit.edu	37	6	36759834	36759834	+	Silent	SNP	G	A	A	rs139245762	byFrequency	TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:36759834G>A	uc003omr.1	-	7	571	c.504C>T	c.(502-504)tcC>tcT	p.S168S	CPNE5_uc003oms.1_Silent_p.S147S	NM_020939	NP_065990	Q9HCH3	CPNE5_HUMAN	Homo sapiens copine V (CPNE5), mRNA.	168	C2 2.									central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GCTCCTCAGCGGACAGGATGA	0.567000														98			25		0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28598670	28598670	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr18:28598670C>T	uc002kwj.4	-	7	1194	c.1039G>A	c.(1039-1041)Gat>Aat	p.D347N	DSC3_uc002kwi.4_Missense_Mutation_p.D347N	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	347	Cadherin 2.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	p.D347Y(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TCATTTGAATCTGTTACTGTT	0.333000														55			5		0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42848175	42848175	+	Missense_Mutation	SNP	T	G	G			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:42848175T>G	uc002otl.4	+	9	2373	c.1738T>G	c.(1738-1740)Tgc>Ggc	p.C580G	MEGF8_uc002otm.4_Missense_Mutation_p.C121G	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	580	PSI 1.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				ATGCAGTTGGTGCCAAGGAGC	0.632000														79			17		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13923485	13923485	+	Silent	SNP	G	A	A	rs145920072	byFrequency	TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:13923485G>A	uc003jfd.2	-	3	384	c.342C>T	c.(340-342)ttC>ttT	p.F114F	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	114	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCTCGGTCACGAACACCTTAG	0.433000									Kartagener syndrome					74			12		0	0	1	0	0
RSPH10B	222967	broad.mit.edu	37	7	5967999	5967999	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:5967999G>A	uc003sph.1	-	19	2531	c.2260C>T	c.(2260-2262)Cga>Tga	p.R754*	RSPH10B_uc003spg.1_Nonsense_Mutation_p.R601*|RSPH10B_uc010ktd.1_Nonsense_Mutation_p.R754*|RSPH10B_uc011jwk.2_Silent_p.I375I	NM_173565	NP_775836	B2RC85	R10B2_HUMAN	Homo sapiens radial spoke head 10 homolog B (Chlamydomonas) (RSPH10B), mRNA.	754								p.R754R(2)		breast(1)|kidney(1)|lung(4)|ovary(1)|skin(4)	11		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0974)		TCTTCCTCTCGATCATCCTTG	0.418000														221			19		0	0	1	0	0
CADM4	199731	broad.mit.edu	37	19	44127496	44127496	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:44127496C>T	uc002oxc.1	-	8	1202	c.1153G>A	c.(1153-1155)Gaa>Aaa	p.E385K		NM_145296	NP_660339	Q8NFZ8	CADM4_HUMAN	Homo sapiens cell adhesion molecule 4 (CADM4), mRNA.	385					cell adhesion	integral to membrane				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				ATGAAGAATTCCTCTTTCCTC	0.577000														139			30		0	0	1	0	0
USP47	55031	broad.mit.edu	37	11	11976597	11976597	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:11976597C>T	uc001mjs.3	+	26	4542	c.3779C>T	c.(3778-3780)cCc>cTc	p.P1260L	USP47_uc001mjr.3_Missense_Mutation_p.P1192L|USP47_uc009ygi.3_Missense_Mutation_p.P62L	NM_017944	NP_060414	Q96K76	UBP47_HUMAN	Homo sapiens ubiquitin specific peptidase 47 (USP47), mRNA.	1280					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex|cytoplasm	WD40-repeat domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		GGAACATTTCCCTGTGATATT	0.388000														54			11		0	0	1	0	0
TMEM132C	92293	broad.mit.edu	37	12	128899597	128899597	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:128899597C>T	uc021rgn.1	+	1	406	c.406C>T	c.(406-408)Ctg>Ttg	p.L136L		NM_001136103	NP_001129575	Q8N3T6	T132C_HUMAN	Homo sapiens transmembrane protein 132C (TMEM132C), mRNA.	136						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1)	13						AGCCCACATCCTGCGGGACAA	0.498000														7			5		0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14813983	14813983	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:14813983C>T	uc001rcd.3	-	10	1433	c.1296G>A	c.(1294-1296)ctG>ctA	p.L432L		NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	432					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						CTGCAATCATCAGGATCTGAG	0.512000														81			16		0	0	1	0	0
SNAPC4	6621	broad.mit.edu	37	9	139277730	139277730	+	Missense_Mutation	SNP	G	A	A	rs148400916		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:139277730G>A	uc004chh.3	-	14	1900	c.1891C>T	c.(1891-1893)Cct>Tct	p.P631S		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 4, 190kDa (SNAPC4), mRNA.	631					snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GCCCTGGCAGGGACCTGCACC	0.716000														27			5		0	0	1	0	0
UNC45B	146862	broad.mit.edu	37	17	33504139	33504139	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:33504139C>T	uc002hja.3	+	15	2232	c.2135C>T	c.(2134-2136)cCt>cTt	p.P712L	UNC45B_uc002hjb.3_Missense_Mutation_p.P710L|UNC45B_uc002hjc.3_Missense_Mutation_p.P710L|UNC45B_uc010cto.3_Missense_Mutation_p.P631L	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	Homo sapiens unc-45 homolog B (C. elegans) (UNC45B), transcript variant 1, mRNA.	712					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				ATTGCTTTTCCTGGGGAGCGG	0.577000														67			17		0	0	1	0	0
HRC	3270	broad.mit.edu	37	19	49657579	49657579	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:49657579C>T	uc002pmv.3	-	0	1103	c.916G>A	c.(916-918)Gat>Aat	p.D306N		NM_002152	NP_002143	P23327	SRCH_HUMAN	Homo sapiens histidine rich calcium binding protein (HRC), mRNA.	306	4 X tandem repeats, acidic.|6 X approximate tandem repeats.				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	p.N305D(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		TCATCATCATCATTGTCATCT	0.532000														60			14		0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2962271	2962271	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:2962271C>T	uc003smv.3	-	16	2600	c.2266G>A	c.(2266-2268)Gaa>Aaa	p.E756K		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	756					T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GTCTCACCTTCGTGGTTGACC	0.627000			Mis		DLBCL									68			21		0	0	1	0	0
CLVS1	157807	broad.mit.edu	37	8	62289311	62289311	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:62289311C>T	uc003xuh.3	+	2	927	c.603C>T	c.(601-603)atC>atT	p.I201I	CLVS1_uc003xug.2_3'UTR|CLVS1_uc003xui.3_Non-coding_Transcript	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	Homo sapiens clavesin 1 (CLVS1), mRNA.	201	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CACCTTCAATCCTTAAACTGG	0.378000														34			8		0	0	1	0	0
NLGN2	57555	broad.mit.edu	37	17	7318297	7318297	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:7318297C>T	uc002ggt.1	+	4	940	c.867C>T	c.(865-867)gcC>gcT	p.A289A		NM_020795	NP_065846	Q8NFZ4	NLGN2_HUMAN	Homo sapiens neuroligin 2 (NLGN2), mRNA.	289					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				AGGCCATCGCCCAGAGTGGCA	0.647000														56			10		0	0	1	0	0
CAMK4	814	broad.mit.edu	37	5	110710584	110710584	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:110710584C>T	uc003kpf.3	+	2	512	c.277C>T	c.(277-279)Ctt>Ttt	p.L93F	CAMK4_uc010jbv.3_Intron	NM_001744	NP_001735	Q16566	KCC4_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase IV (CAMK4), mRNA.	93	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		GATAGGAGTTCTTCTTCGCCT	0.383000														28			6		0	0	1	0	0
PLEKHG3	26030	broad.mit.edu	37	14	65208940	65208940	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:65208940C>T	uc001xhp.2	+	15	3107	c.3068C>T	c.(3067-3069)cCa>cTa	p.P1023L	PLEKHG3_uc001xhn.1_Missense_Mutation_p.P846L|PLEKHG3_uc001xho.1_Missense_Mutation_p.P902L|PLEKHG3_uc010aqh.1_Missense_Mutation_p.P444L|PLEKHG3_uc001xhq.1_Missense_Mutation_p.P407L	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 3 (PLEKHG3), mRNA.	902					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		CTGGTGGCCCCACTGCACCCC	0.667000														48			9		0	0	1	0	0
TAS2R10	50839	broad.mit.edu	37	12	10978119	10978119	+	Silent	SNP	A	G	G			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:10978119A>G	uc001qyy.1	-	0	750	c.750T>C	c.(748-750)ttT>ttC	p.F250F		NM_023921	NP_076410	Q9NYW0	T2R10_HUMAN	Homo sapiens taste receptor, type 2, member 10 (TAS2R10), mRNA.	250					sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CTCGCACAGTAAAACATGATA	0.383000														56			14		0	0	1	0	0
HNRNPM	4670	broad.mit.edu	37	19	8539104	8539104	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:8539104G>A	uc010dwe.3	+	11	1176	c.1096G>A	c.(1096-1098)Ggg>Agg	p.G366R	HNRNPM_uc010dwc.1_Missense_Mutation_p.G351R|HNRNPM_uc010xke.1_Missense_Mutation_p.G312R|HNRNPM_uc010dwd.3_Missense_Mutation_p.G327R|HNRNPM_uc002mka.3_Missense_Mutation_p.G231R	NM_005968	NP_005959	P52272	HNRPM_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein M (HNRNPM), transcript variant 1, mRNA.	366					alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	RNA binding|nucleotide binding|protein domain specific binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						ATTTGGATCTGGGATGAACAT	0.493000														154			32		0	0	1	0	0
SLC1A6	6511	broad.mit.edu	37	19	15072869	15072869	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:15072869C>T	uc002naa.1	-	4	887	c.880G>A	c.(880-882)Gac>Aac	p.D294N	SLC1A6_uc010dzu.1_Missense_Mutation_p.D294N|SLC1A6_uc010xod.1_Missense_Mutation_p.D230N|SLC1A6_uc002nab.3_Missense_Mutation_p.D294N|SLC1A6_uc002nac.3_Missense_Mutation_p.D294N	NM_005071	NP_005062	P48664	EAA4_HUMAN	Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	294					synaptic transmission	integral to plasma membrane|membrane fraction	L-aspartate transmembrane transporter activity|high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	TCGAAGAAGTCCCTGAGGACT	0.582000														79			18		0	0	1	0	0
ASS1	445	broad.mit.edu	37	9	133355802	133355802	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:133355802C>T	uc010mza.3	+	11	1540	c.1032C>T	c.(1030-1032)atC>atT	p.I344I	ASS1_uc004bzm.3_Silent_p.I268I|ASS1_uc004bzn.3_Silent_p.I268I	NM_054012	NP_446464	P00966	ASSY_HUMAN	Homo sapiens argininosuccinate synthase 1 (ASS1), transcript variant 2, mRNA.	268					arginine biosynthetic process|urea cycle	cytosol	ATP binding|argininosuccinate synthase activity|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	GTATTGACATCGTGGAGAACC	0.612000														52			10		0	0	1	0	0
GABRP	2568	broad.mit.edu	37	5	170239211	170239211	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr5:170239211G>A	uc003mau.3	+	9	1470	c.1272G>A	c.(1270-1272)ttG>ttA	p.L424L	GABRP_uc011dev.2_3'UTR	NM_014211	NP_055026	O00591	GBRP_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, pi (GABRP), mRNA.	424						cell junction|chloride channel complex|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGTTTCCTTTGATTTTTATGC	0.348000														51			9		0	0	1	0	0
OR52B2	255725	broad.mit.edu	37	11	6190872	6190872	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:6190872G>A	uc010qzy.2	-	0	685	c.685C>T	c.(685-687)Cgt>Tgt	p.R229C		NM_001004052	NP_001004052	Q96RD2	O52B2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 2 (OR52B2), mRNA.	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGGGCAAACGAAACACTGCT	0.478000														32			6		0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96021498	96021498	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:96021498G>A	uc004ati.1	+	10	2668	c.2668G>A	c.(2668-2670)Gcc>Acc	p.A890T	WNK2_uc011lud.1_Missense_Mutation_p.A890T|WNK2_uc004atj.3_Missense_Mutation_p.A890T|WNK2_uc004atk.3_Missense_Mutation_p.A527T|WNK2_uc010mrc.1_Missense_Mutation_p.A838T	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	890					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GCTGGCCGTAGCCCCACCGGG	0.687000														50			13		0	0	1	0	0
RASGRF1	5923	broad.mit.edu	37	15	79382667	79382667	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:79382667C>T	uc002beq.3	-	0	549	c.174G>A	c.(172-174)tcG>tcA	p.S58S	RASGRF1_uc002bep.3_Silent_p.S58S|RASGRF1_uc002ber.4_Silent_p.S58S	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA.	58	PH 1.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GCCGCGAGCTCGAGTCGCTCT	0.637000														64			14		0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	167012436	167012436	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:167012436C>T	uc003irh.2	+	18	3246	c.2599C>T	c.(2599-2601)Cgg>Tgg	p.R867W	TLL1_uc011cjn.2_Missense_Mutation_p.R890W|TLL1_uc011cjo.2_Missense_Mutation_p.R691W	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	867	CUB 4.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.R867W(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AATGTTTGTTCGGTTTGTTTC	0.403000														36			6		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179583614	179583614	+	Missense_Mutation	SNP	G	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:179583614G>T	uc021vsy.1	-	80	20806	c.20581C>A	c.(20581-20583)Cct>Act	p.P6861T	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P3522T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7788	Ig-like 50.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E6860*(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGAAAGGAGGGGTGCCTCTG	0.473000														18			8		1.76689e-08	1.78095e-08	1	1	0
CACNA1C	775	broad.mit.edu	37	12	2614051	2614051	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:2614051T>C	uc009zdu.1	+	7	1470	c.1157T>C	c.(1156-1158)gTt>gCt	p.V386A	CACNA1C_uc001qkc.2_Missense_Mutation_p.V386A|CACNA1C_uc001qjz.2_Missense_Mutation_p.V386A|CACNA1C_uc001qkd.2_Missense_Mutation_p.V386A|CACNA1C_uc001qke.2_Missense_Mutation_p.V386A|CACNA1C_uc001qkf.2_Missense_Mutation_p.V386A|CACNA1C_uc009zdw.1_Missense_Mutation_p.V386A|CACNA1C_uc001qkg.2_Missense_Mutation_p.V386A|CACNA1C_uc001qkh.2_Missense_Mutation_p.V386A|CACNA1C_uc001qkl.2_Missense_Mutation_p.V386A|CACNA1C_uc001qkj.2_Intron|CACNA1C_uc001qkk.2_Intron|CACNA1C_uc001qkn.2_Intron|CACNA1C_uc001qkm.2_Intron|CACNA1C_uc001qko.2_Missense_Mutation_p.V386A|CACNA1C_uc001qkp.2_Missense_Mutation_p.V386A|CACNA1C_uc001qkq.2_Missense_Mutation_p.V386A|CACNA1C_uc001qku.2_Missense_Mutation_p.V386A|CACNA1C_uc001qkr.2_Missense_Mutation_p.V386A|CACNA1C_uc001qks.2_Missense_Mutation_p.V386A|CACNA1C_uc001qkt.2_Missense_Mutation_p.V386A|CACNA1C_uc009zdv.1_Missense_Mutation_p.V383A|CACNA1C_uc001qkb.2_Missense_Mutation_p.V386A|CACNA1C_uc001qka.1_Intron|CACNA1C_uc001qki.1_Intron|CACNA1C_uc009zdy.1_Intron|CACNA1C_uc001qkv.1_5'UTR	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	386					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	ATCTATTTTGTTACACTAATC	0.458000														36			7		0	0	1	0	0
UTP20	27340	broad.mit.edu	37	12	101703550	101703550	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:101703550C>T	uc001tia.1	+	18	2320	c.2164C>T	c.(2164-2166)Cgt>Tgt	p.R722C		NM_014503	NP_055318	O75691	UTP20_HUMAN	Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA.	722					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	p.R722H(1)		NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GGTGCCGCTTCGTTATTTGTT	0.358000														110			19		0	0	1	0	0
MAP6	4135	broad.mit.edu	37	11	75298635	75298635	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:75298635C>T	uc001owu.3	-	3	1976	c.1911G>A	c.(1909-1911)aaG>aaA	p.K637K		NM_033063	NP_149052	Q96JE9	MAP6_HUMAN	Homo sapiens microtubule-associated protein 6 (MAP6), transcript variant 1, mRNA.	637	Pro-rich.					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					GATCTTGATCCTTGATAGGTG	0.522000														115			23		0	0	1	0	0
AKIP1	56672	broad.mit.edu	37	11	8933051	8933051	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:8933051C>T	uc001mgx.3	+	1	131	c.55C>T	c.(55-57)Cag>Tag	p.Q19*	ST5_uc001mgv.3_5'Flank|AKIP1_uc001mgz.3_Nonsense_Mutation_p.Q19*|AKIP1_uc001mgy.3_Nonsense_Mutation_p.Q19*|AKIP1_uc021qdh.1_Nonsense_Mutation_p.Q19*|AKIP1_uc010rbr.2_Nonsense_Mutation_p.Q19*|AKIP1_uc010rbs.2_Nonsense_Mutation_p.Q19*|AKIP1_uc001mha.3_Nonsense_Mutation_p.Q19*|AKIP1_uc021qdi.1_Nonsense_Mutation_p.Q19*	NM_020642	NP_065693	Q9NQ31	AKIP1_HUMAN	Homo sapiens A kinase (PRKA) interacting protein 1 (AKIP1), transcript variant 1, mRNA.	19						nucleus	protein binding			kidney(1)|large_intestine(2)|lung(2)	5						ACGTTCCCTGCAGCGTTCAGC	0.642000														22			8		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9064403	9064403	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:9064403C>T	uc002mkp.3	-	2	23247	c.23043G>A	c.(23041-23043)gtG>gtA	p.V7681V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7683	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						TGGTTTCTTTCACAAAGGGAG	0.547000														47			14		0	0	1	0	0
C11orf63	79864	broad.mit.edu	37	11	122774920	122774920	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:122774920C>T	uc001pym.3	+	2	929	c.632C>T	c.(631-633)tCa>tTa	p.S211L	C11orf63_uc001pyl.1_Missense_Mutation_p.S211L	NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	Homo sapiens chromosome 11 open reading frame 63 (C11orf63), transcript variant 1, mRNA.	211										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		AAGCCGTTTTCAGAGCTGAGC	0.517000														79			15		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149503132	149503132	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:149503132C>G	uc010lpk.3	+	57	8627	c.8627C>G	c.(8626-8628)aCg>aGg	p.T2876R		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	2879	TSP type-1 8.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GACTGCAACACGCAGCCCTGC	0.632000														92			11		0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39564406	39564406	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:39564406G>A	uc003xni.3	+	17	2055	c.2000G>A	c.(1999-2001)gGa>gAa	p.G667E	ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.G643E	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	667					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			ATTGATGATGGAAATTTTCAG	0.323000														63			8		0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18889747	18889747	+	Splice_Site	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:18889747G>A	uc003zne.4	+	25	4795	c.4643_splice	c.e25+1	p.R1548_splice	ADAMTSL1_uc003znf.4_Splice_Site_p.R249_splice	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	1548	TSP type-1 8.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GCCCTTCTCGGTGAGTGCAGC	0.647000														8			4		0	0	1	0	0
KIAA1432	57589	broad.mit.edu	37	9	5754865	5754865	+	Missense_Mutation	SNP	G	C	C			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr9:5754865G>C	uc003zjl.4	+	13	1707	c.1516G>C	c.(1516-1518)Ggc>Cgc	p.G506R	KIAA1432_uc003zjh.3_Missense_Mutation_p.G464R|KIAA1432_uc003zji.3_Missense_Mutation_p.G464R|KIAA1432_uc003zjj.1_Missense_Mutation_p.G6R	NM_001206557	NP_001193486	Q4ADV7	RIC1_HUMAN	Homo sapiens KIAA1432 (KIAA1432), transcript variant 3, mRNA.	543						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		CGTGACAGGTGGCTTAGCCTG	0.279000														77			20		0	0	1	0	0
RPE65	6121	broad.mit.edu	37	1	68905282	68905282	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:68905282G>A	uc001dei.1	-	6	741	c.687C>T	c.(685-687)ttC>ttT	p.F229F		NM_000329	NP_000320	Q16518	RPE65_HUMAN	Homo sapiens retinal pigment epithelium-specific protein 65kDa (RPE65), mRNA.	229					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						CACTGCAGGGGAATTGTACAA	0.373000														60			8		0	0	1	0	0
OCA2	4948	broad.mit.edu	37	15	28259931	28259931	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr15:28259931G>A	uc001zbh.4	-	8	1145	c.1035C>T	c.(1033-1035)atC>atT	p.I345I	OCA2_uc010ayv.3_Silent_p.I345I	NM_000275	NP_000266	Q04671	P_HUMAN	Homo sapiens oculocutaneous albinism II (OCA2), mRNA.	345					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	L-tyrosine transmembrane transporter activity|arsenite transmembrane transporter activity|citrate transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		CCTCAAATATGATCAGCGCGT	0.577000									Oculocutaneous Albinism					32			9		0	0	1	0	0
ATG4C	84938	broad.mit.edu	37	1	63307111	63307112	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:63307111_63307112CC>TT	uc001dat.3	+	9	1290_1291	c.1102_1103CC>TT	c.(1102-1104)cct>TTt	p.P368F	ATG4C_uc001dau.3_Missense_Mutation_p.P368F	NM_178221	NP_835739	Q96DT6	ATG4C_HUMAN	Homo sapiens ATG4 autophagy related 4 homolog C (S. cerevisiae) (ATG4C), transcript variant 2, mRNA.	368					autophagic vacuole assembly|protein targeting to membrane|proteolysis	cytosol|extracellular region	cysteine-type endopeptidase activity		ATG4C/FBXO38(2)	NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(3)|ovary(1)|prostate(2)	19						ATTCCACTGCCCTTCTCCCAAA	0.307000														26			6		0	0	1	0	0
CPA1	1357	broad.mit.edu	37	7	130021621	130021621	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:130021621G>A	uc003vpx.3	+	2	370	c.298G>A	c.(298-300)Gag>Aag	p.E100K	CPA1_uc011kpf.1_Missense_Mutation_p.E12K|CPA1_uc003vpw.2_Intron	NM_001868	NP_001859	P15085	CBPA1_HUMAN	Homo sapiens carboxypeptidase A1 (pancreatic) (CPA1), mRNA.	100					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					GCTGGACGAGGAGCAGGAGCA	0.622000											OREG0018314	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		86			8		0	0	1	0	0
P2RY10	27334	broad.mit.edu	37	X	78216114	78216114	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chrX:78216114C>T	uc022bzl.1	+	0	97	c.97C>T	c.(97-99)Caa>Taa	p.Q33*	P2RY10_uc004ede.3_Nonsense_Mutation_p.Q33*|P2RY10_uc004edf.3_Nonsense_Mutation_p.Q33*	NM_198333	NP_938147	O00398	P2Y10_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 10 (P2RY10), transcript variant 2, mRNA.	33						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						TGTGAAATTTCAATACTCCCT	0.428000														23			14		0	0	1	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62757842	62757842	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:62757842C>T	uc003peg.2	-	2	524	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA.	93	KH.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		CCTGTTTCTTCCTGTAGCCTC	0.373000														70			9		0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48698456	48698456	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:48698456C>T	uc003cuf.1	-	2	1822	c.1822G>A	c.(1822-1824)Gag>Aag	p.E608K	CELSR3_uc003cul.3_Missense_Mutation_p.E538K	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	538	Cadherin 3.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TTGTCGTTCTCGTCTAGCACA	0.637000														59			12		0	0	1	0	0
CHPF2	54480	broad.mit.edu	37	7	150931317	150931317	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:150931317C>T	uc003wjr.1	+	0	1733	c.220C>T	c.(220-222)Ccc>Tcc	p.P74S	CHPF2_uc003wjq.1_Missense_Mutation_p.P66S	NM_019015	NP_061888	Q9P2E5	CHPF2_HUMAN	Homo sapiens chondroitin polymerizing factor 2 (CHPF2), mRNA.	74						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						CCGGATTGTCCCCTACTACAG	0.557000														97			20		0	0	1	0	0
TSSC4	10078	broad.mit.edu	37	11	2424761	2424761	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:2424761G>T	uc021qcg.1	+	0	898	c.898G>T	c.(898-900)Gaa>Taa	p.E300*	TSSC4_uc001lwi.3_Nonsense_Mutation_p.E236*|TSSC4_uc001lwk.3_Nonsense_Mutation_p.E300*|TSSC4_uc001lwl.3_Nonsense_Mutation_p.E300*	NM_005706	NP_005697	Q9Y5U2	TSSC4_HUMAN	Homo sapiens tumor suppressing subtransferable candidate 4 (TSSC4), mRNA.	300										endometrium(3)|large_intestine(1)|lung(4)	8		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCCGCCGGTGGAAACTGTTGG	0.637000														44			5		5.18039e-06	5.21204e-06	1	1	0
TAS2R60	338398	broad.mit.edu	37	7	143140577	143140577	+	Missense_Mutation	SNP	C	T	T	rs144050978		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:143140577C>T	uc011ktg.2	+	0	32	c.32C>T	c.(31-33)tCg>tTg	p.S11L	LOC285965_uc003wda.3_Intron	NM_177437	NP_803186	P59551	T2R60_HUMAN	Homo sapiens taste receptor, type 2, member 60 (TAS2R60), mRNA.	11					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity	p.S11L(2)		breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					CTAGGATCTTCGGTGACTGAC	0.498000														186			31		0	0	1	0	0
SLC6A1	6529	broad.mit.edu	37	3	11064035	11064035	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:11064035C>T	uc010hdq.3	+	6	1006	c.595C>T	c.(595-597)Cag>Tag	p.Q199*		NM_003042	NP_003033	P30531	SC6A1_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 1 (SLC6A1), mRNA.	199					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	CAACATGCATCAGATGACGGA	0.592000														71			10		0	0	1	0	0
PRICKLE2	166336	broad.mit.edu	37	3	64085072	64085072	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:64085072C>T	uc003dmf.3	-	7	2776	c.2190G>A	c.(2188-2190)cgG>cgA	p.R730R		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	Homo sapiens prickle homolog 2 (Drosophila) (PRICKLE2), mRNA.	730	Arg-rich.					cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CCTGGAAGCTCCGCTGGCGCA	0.622000														70			16		0	0	1	0	0
TSPAN5	10098	broad.mit.edu	37	4	99408034	99408035	+	Splice_Site	DNP	CC	TT	TT			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:99408034_99408035CC>TT	uc003hub.3	-	3	568	c.133_splice	c.e3-1	p.G45_splice	TSPAN5_uc011cdz.2_Splice_Site	NM_005723	NP_005714	P62079	TSN5_HUMAN	Homo sapiens tetraspanin 5 (TSPAN5), mRNA.	45						integral to membrane				kidney(2)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;1.89e-07)		GGACAGAACTCCCTGGGAGCAG	0.480000														123			14		0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28598661	28598661	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr18:28598661C>T	uc002kwj.4	-	7	1203	c.1048G>A	c.(1048-1050)Gat>Aat	p.D350N	DSC3_uc002kwi.4_Missense_Mutation_p.D350N	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	350	Cadherin 2.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			GGTGCATTATCATTTGAATCT	0.308000														55			4		0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207175137	207175137	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr2:207175137G>A	uc002vbp.2	+	4	6135	c.5885G>A	c.(5884-5886)aGa>aAa	p.R1962K		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	1962							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AAAATAATTAGACAAGAGGAA	0.398000														28			16		0	0	1	0	0
C21orf91	54149	broad.mit.edu	37	21	19169217	19169217	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr21:19169217G>A	uc002yko.4	-	2	437	c.346C>T	c.(346-348)Ccc>Tcc	p.P116S	C21orf91_uc002ykq.4_Missense_Mutation_p.P116S|C21orf91_uc002ykp.4_Missense_Mutation_p.P116S	NM_001100420	NP_001093890	Q9NYK6	EURL_HUMAN	Homo sapiens chromosome 21 open reading frame 91 (C21orf91), transcript variant 1, mRNA.	116										endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9				Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929)		TGATGCTGGGGGTTTTTAGAA	0.353000														61			14		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61941146	61941146	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr10:61941146G>A	uc001jky.3	-	17	2463	c.2125C>T	c.(2125-2127)Cga>Tga	p.R709*	ANK3_uc010qih.2_Nonsense_Mutation_p.R692*|ANK3_uc001jkz.4_Nonsense_Mutation_p.R703*|ANK3_uc001jlb.1_Nonsense_Mutation_p.R238*|ANK3_uc001jlc.1_Nonsense_Mutation_p.R370*	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	709					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ACATTCACTCGATCTTCTTGA	0.522000														96			29		0	0	1	0	0
PPL	5493	broad.mit.edu	37	16	4949351	4949351	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:4949351G>A	uc002cyd.1	-	6	731	c.641C>T	c.(640-642)tCg>tTg	p.S214L		NM_002705	NP_002696	O60437	PEPL_HUMAN	Homo sapiens periplakin (PPL), mRNA.	214					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GTCCTGCAGCGAACTCAGGTG	0.647000														49			6		0	0	1	0	0
UGT2B17	7367	broad.mit.edu	37	4	69433930	69433930	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr4:69433930C>T	uc021xov.1	-	0	316	c.273G>A	c.(271-273)atG>atA	p.M91I		NM_001077	NP_001068	O75795	UDB17_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B17 (UGT2B17), mRNA.	91					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						CGAACATTTTCATAAAAAAAT	0.274000														56			10		0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94035563	94035563	+	Splice_Site	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr7:94035563G>A	uc003ung.1	+	12	1012	c.541_splice	c.e12-1	p.G181_splice	COL1A2_uc011kib.1_Intron|COL1A2_uc010lfh.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	181			Missing (in OI4).		Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TCCTTTCAGGGACACAATGGT	0.368000										HNSCC(75;0.22)				72			8		0	0	1	0	0
RAET1K	646024	broad.mit.edu	37	6	150322324	150322324	+	RNA	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:150322324C>T	uc003qnq.3	-	1		c.553G>A								Homo sapiens retinoic acid early transcript 1K pseudogene (RAET1K), non-coding RNA.																		CACCCTGCTTCCTTTCCTGGC	0.507000														15			4		0	0	1	0	0
DEF6	50619	broad.mit.edu	37	6	35289109	35289109	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr6:35289109C>T	uc003okk.3	+	10	1857	c.1818C>T	c.(1816-1818)tcC>tcT	p.S606S	DEF6_uc010jvs.3_Silent_p.S581S|DEF6_uc010jvt.3_Silent_p.S351S	NM_022047	NP_071330	Q9H4E7	DEFI6_HUMAN	Homo sapiens differentially expressed in FDCP 6 homolog (mouse) (DEF6), mRNA.	606						cytoplasm|nucleus|plasma membrane				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						AGCAGAAGTCCCTCAATGGTG	0.592000														87			22		0	0	1	0	0
ZNF132	7691	broad.mit.edu	37	19	58945164	58945164	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:58945164C>T	uc002qst.4	-	2	2048	c.1647G>A	c.(1645-1647)ggG>ggA	p.G549G		NM_003433	NP_003424	P52740	ZN132_HUMAN	Homo sapiens zinc finger protein 132 (ZNF132), mRNA.	549						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		CAAAGGCTTTCCCACACTCAC	0.468000														71			9		0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5456732	5456732	+	Silent	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:5456732G>A	uc002gci.3	-	4	3057	c.2502C>T	c.(2500-2502)cgC>cgT	p.R834R	NLRP1_uc002gcg.1_Silent_p.R834R|NLRP1_uc002gch.4_Silent_p.R834R|NLRP1_uc002gck.3_Silent_p.R834R|NLRP1_uc002gcj.3_Silent_p.R834R|NLRP1_uc002gcl.3_Silent_p.R834R|NLRP1_uc010clh.3_Silent_p.R834R	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	834					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GGCAGCGAGGGCGTCTCAGGG	0.572000														43			14		0	0	1	0	0
OR14I1	401994	broad.mit.edu	37	1	248845151	248845151	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:248845151G>A	uc001ieu.1	-	0	455	c.455C>T	c.(454-456)tCc>tTc	p.S152F		NM_001004734	NP_001004734	A6ND48	O14I1_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily I, member 1 (OR14I1), mRNA.	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						GGCTGCGTAGGAAAAGCAGCT	0.552000														44			8		0	0	1	0	0
OR2M4	26245	broad.mit.edu	37	1	248402548	248402548	+	Silent	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:248402548C>T	uc010pzh.2	+	0	318	c.318C>T	c.(316-318)tcC>tcT	p.S106S		NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 4 (OR2M4), mRNA.	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|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;0.0245)			TCTATGTGTCCCTGCTTGGAG	0.458000														36			6		0	0	1	0	0
CCDC67	159989	broad.mit.edu	37	11	93127673	93127673	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:93127673G>A	uc001pdq.3	+	9	1190	c.1090G>A	c.(1090-1092)Gaa>Aaa	p.E364K	CCDC67_uc001pdo.1_Missense_Mutation_p.E364K|CCDC67_uc001pdp.3_Missense_Mutation_p.E364K	NM_181645	NP_857596	Q05D60	CCD67_HUMAN	Homo sapiens coiled-coil domain containing 67 (CCDC67), mRNA.	364										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				CTCTGAGCAGGAAAGAATGAG	0.393000														8			5		0	0	1	0	0
ARHGAP5	394	broad.mit.edu	37	14	32562058	32562058	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr14:32562058C>T	uc001wrl.3	+	1	2422	c.2183C>T	c.(2182-2184)cCt>cTt	p.P728L	ARHGAP5_uc001wrm.3_Missense_Mutation_p.P728L|ARHGAP5_uc001wrn.3_Missense_Mutation_p.P728L|ARHGAP5_uc001wro.3_Intron|ARHGAP5_uc001wrp.3_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Homo sapiens Rho GTPase activating protein 5 (ARHGAP5), transcript variant 2, mRNA.	728					Rho protein signal transduction|cell adhesion	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TTGCAATGTCCTTTTGTAGAT	0.383000														65			17		0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27687850	27687850	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr10:27687850C>T	uc001itu.2	-	3	1795	c.1677G>A	c.(1675-1677)tgG>tgA	p.W559*		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	559					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						TAAATGAGGGCCATTTTGGGT	0.383000														56			11		0	0	1	0	0
EPRS	2058	broad.mit.edu	37	1	220170408	220170408	+	Missense_Mutation	SNP	T	G	G			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:220170408T>G	uc001hly.1	-	17	2728	c.2458A>C	c.(2458-2460)Att>Ctt	p.I820L	RNU5F-1_uc021pjd.1_Intron|EPRS_uc010puf.1_Missense_Mutation_p.I571L|EPRS_uc001hlz.1_Missense_Mutation_p.I827L	NM_004446	NP_004437	P07814	SYEP_HUMAN	Homo sapiens glutamyl-prolyl-tRNA synthetase (EPRS), mRNA.	820	3 X 57 AA approximate repeats.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|RNA binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	CTTTCCAGAATACTTGCTGAG	0.393000														69			12		0	0	1	0	0
HRH1	3269	broad.mit.edu	37	3	11301793	11301793	+	Missense_Mutation	SNP	C	T	T	rs2067469		TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr3:11301793C>T	uc010hdr.3	+	1	1412	c.1070C>T	c.(1069-1071)tCc>tTc	p.S357F	HRH1_uc010hds.3_Missense_Mutation_p.S357F|HRH1_uc010hdt.3_Missense_Mutation_p.S357F|HRH1_uc003bwb.4_Missense_Mutation_p.S357F|HRH1_uc021wtb.1_Missense_Mutation_p.S357F	NM_001098213	NP_001091683	P35367	HRH1_HUMAN	Homo sapiens histamine receptor H1 (HRH1), transcript variant 1, mRNA.	357					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	GATAGCCAATCCTTCTCTCGA	0.517000														84			25		0	0	1	0	0
MMEL1	79258	broad.mit.edu	37	1	2560819	2560821	+	In_Frame_Del	DEL	CAG	-	-			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr1:2560819_2560821delCAG	uc001ajy.2	-	1	317_319	c.103_105delCTG	c.(103-105)ctgdel	p.L35del	MMEL1_uc009vlg.1_Non-coding_Transcript	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN	Homo sapiens membrane metallo-endopeptidase-like 1 (MMEL1), mRNA.	35					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		CAGCGGTCACcagcagcagcagc	0.739													---	6	---	---	4	---					
VPS13B	157680	broad.mit.edu	37	8	100133469	100133469	+	Frame_Shift_Del	DEL	T	-	-			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:100133469delT	uc003yiv.3	+	7	1113	c.1002delT	c.(1000-1002)tatfs	p.Y334fs	VPS13B_uc003yiw.3_Frame_Shift_Del_p.Y334fs|VPS13B_uc003yit.3_Frame_Shift_Del_p.Y334fs|VPS13B_uc003yiu.1_Frame_Shift_Del_p.Y334fs|VPS13B_uc003yis.3_Frame_Shift_Del_p.Y334fs|VPS13B_uc011lgy.2_Frame_Shift_Del_p.Y210fs	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	334					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)			AAGAGTTATATTCACAGCAAG	0.403													---	38	---	---	8	---					
NDRG1	10397	broad.mit.edu	37	8	134296497	134296498	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr8:134296497_134296498delCT	uc003yuh.2	-	1	643_644	c.57_58delAG	c.(55-60)aaagggfs	p.K19fs	NDRG1_uc003yug.2_Frame_Shift_Del_p.K19fs|NDRG1_uc010mee.2_5'UTR|NDRG1_uc010mef.2_Intron|NDRG1_uc011ljh.1_5'UTR|NDRG1_uc011lji.1_Intron	NM_001135242	NP_006087	Q92597	NDRG1_HUMAN	Homo sapiens N-myc downstream regulated 1 (NDRG1), transcript variant 1, mRNA.	19					cellular response to hypoxia|response to metal ion	cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane	protein binding		NDRG1/ERG(5)	endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			CTCACCTCCCCTTTCTCCACCA	0.550			T	ERG	prostate								---	69	---	---	25	---					
C11orf9	745	broad.mit.edu	37	11	61547737	61547739	+	In_Frame_Del	DEL	GAG	-	-			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr11:61547737_61547739delGAG	uc001nsc.1	+	17	2476_2478	c.2380_2382delGAG	c.(2380-2382)gagdel	p.E795del	C11orf9_uc001nse.1_In_Frame_Del_p.E786del|C11orf9_uc010rll.1_In_Frame_Del_p.E186del	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN	Homo sapiens chromosome 11 open reading frame 9 (C11orf9), transcript variant 2, mRNA.	795					central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(1)	29						CCTGCGCACAGAGGAGGACCTGG	0.611													---	75	---	---	7	---					
ITPR2	3709	broad.mit.edu	37	12	26647141	26647142	+	Frame_Shift_Ins	INS	-	A	A			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr12:26647141_26647142insA	uc001rhg.3	-	38	5731_5732	c.5314_5315insT	c.(5314-5316)tcafs	p.S1772fs	ITPR2_uc009zjg.1_5'UTR	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	1772					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					AATGCCTTCTGAAAAAATTCTG	0.381													---	75	---	---	9	---					
CDH1	999	broad.mit.edu	37	16	68771348	68771350	+	In_Frame_Del	DEL	GCT	-	-			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr16:68771348_68771350delGCT	uc002ewg.1	+	0	154_156	c.30_32delGCT	c.(28-33)gcgctg>gcg	p.L15del	CDH1_uc010vlj.1_Non-coding_Transcript|CDH1_uc010cfg.1_In_Frame_Del_p.L15del	NM_004360	NP_004351	P12830	CADH1_HUMAN	Homo sapiens cadherin 1, type 1, E-cadherin (epithelial) (CDH1), mRNA.	15					adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	Golgi apparatus|actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.?(2)|p.L8fs*41(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GCCTCTCGGCGCTGCTGCTGCTG	0.764			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer				---	4	---	---	2	---					
RPL38	6169	broad.mit.edu	37	17	72205441	72205442	+	Frame_Shift_Ins	INS	-	C	C			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr17:72205441_72205442insC	uc002jjz.3	+	3	308_309	c.180_181insC	c.(178-183)ctgcccfs	p.L60fs	RPL38_uc002jka.3_Frame_Shift_Ins_p.L60fs	NM_000999	NP_001030335	P63173	RL38_HUMAN	Homo sapiens ribosomal protein L38 (RPL38), transcript variant 1, mRNA.	60					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|protein binding|structural constituent of ribosome			large_intestine(1)|pancreas(1)	2						AGCAGTCCCTGCCCCCCGGTGA	0.490													---	146	---	---	19	---					
DOCK6	57572	broad.mit.edu	37	19	11356550	11356551	+	Frame_Shift_Del	DEL	CG	-	-	rs141338642	by1000genomes	TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:11356550_11356551delCG	uc002mqs.4	-	7	851_852	c.810_811delCG	c.(808-813)ttcgagfs	p.F270fs		NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	Homo sapiens dedicator of cytokinesis 6 (DOCK6), mRNA.	270					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						ATTTCAATCTCGAACCTACAAG	0.530													---	4	---	---	2	---					
LYPD3	27076	broad.mit.edu	37	19	43969653	43969655	+	In_Frame_Del	DEL	AGC	-	-	rs141441894	byFrequency	TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr19:43969653_43969655delAGC	uc002owl.1	-	0	177_179	c.69_71delGCT	c.(67-72)ctgctt>ctt	p.23_24LL>L	LYPD3_uc002owm.3_In_Frame_Del_p.23_24LL>L	NM_014400	NP_055215	O95274	LYPD3_HUMAN	Homo sapiens LY6/PLAUR domain containing 3 (LYPD3), mRNA.	23						anchored to plasma membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				ACCTCCGCGAAGCAGCAGCAGCA	0.675													---	243	---	---	7	---					
PRDM15	63977	broad.mit.edu	37	21	43221415	43221417	+	In_Frame_Del	DEL	CTG	-	-			TCGA-DA-A3F8-06A-11D-A20D-08	TCGA-DA-A3F8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	978ae91e-6ebe-4efa-97ff-cfad511ae7b3	d7b2aeed-1a42-4335-a545-0d284fc5e463	g.chr21:43221415_43221417delCTG	uc002yzq.1	-	30	4618_4620	c.4507_4509delCAG	c.(4507-4509)cagdel	p.Q1503del	PRDM15_uc002yzo.3_In_Frame_Del_p.Q1174del|PRDM15_uc002yzp.3_In_Frame_Del_p.Q1194del|PRDM15_uc002yzr.1_In_Frame_Del_p.Q1194del	NM_022115	NP_071398	P57071	PRD15_HUMAN	Homo sapiens PR domain containing 15 (PRDM15), transcript variant 1, mRNA.	1503	Poly-Gln.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						AGCTGTACATCTGCTGCTGCTGC	0.611													---	156	---	---	9	---					
