Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
TRPC5	7224	broad.mit.edu	37	X	111020135	111020135	+	Silent	SNP	T	T	C			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chrX:111020135T>C	ENST00000262839.2	-	11	3246	c.2328A>G	c.(2326-2328)gaA>gaG	p.E776E		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	776					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TCTGAGACAGTTCAGTGCTGC	0.453000													105	163					0	0	1	0	0
OTUD5	55593	broad.mit.edu	37	X	48814363	48814363	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chrX:48814363C>T	ENST00000156084.4	-	1	530	c.470G>A	c.(469-471)gGg>gAg	p.G157E	OTUD5_ENST00000396743.3_Missense_Mutation_p.G157E|OTUD5_ENST00000376488.3_Missense_Mutation_p.G157E|OTUD5_ENST00000428668.2_Intron	NM_017602.3	NP_060072.1	Q96G74	OTUD5_HUMAN	OTU domain containing 5	157	Gly-rich.				negative regulation of type I interferon production		cysteine-type peptidase activity			endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						CGCGCCAACCCCGGGAGCTTG	0.716000													6	2					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25468246	25468246	+	RNA	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr15:25468246C>T	ENST00000453082.2	+	0	794					NR_003343.1																						GCCTGCTTTTCCTGAGCCAGT	0.612000													11	9					0	0	1	0	0
ZKSCAN1	7586	broad.mit.edu	37	7	99631442	99631442	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr7:99631442T>G	ENST00000324306.6	+	6	1548	c.1314T>G	c.(1312-1314)tgT>tgG	p.C438W	ZKSCAN1_ENST00000535170.1_Missense_Mutation_p.C225W|ZKSCAN1_ENST00000426572.1_Missense_Mutation_p.C402W	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	438					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			GTAACGAGTGTGGCAAGGCCT	0.493000													71	89					0	0	1	0	0
LILRA5	353514	broad.mit.edu	37	19	54818767	54818767	+	Silent	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr19:54818767C>T	ENST00000301219.3	-	7	950	c.831G>A	c.(829-831)gtG>gtA	p.V277V	LILRA5_ENST00000346508.3_Silent_p.V265V	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	277					innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCCCAAGGACCACCAGGATCA	0.532000													21	43					0	0	1	0	0
RBM19	9904	broad.mit.edu	37	12	114397165	114397165	+	Silent	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr12:114397165C>T	ENST00000545145.2	-	5	501	c.423G>A	c.(421-423)caG>caA	p.Q141Q	RBM19_ENST00000261741.5_Silent_p.Q141Q|RBM19_ENST00000392561.3_Silent_p.Q141Q	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	141				Q -> R (in Ref. 1; BAA31657).	multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GCGCCCGCCTCTGATGAACTG	0.597000													21	48					0	0	1	0	0
PSME3	10197	broad.mit.edu	37	17	40993547	40993547	+	Silent	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr17:40993547C>T	ENST00000293362.3	+	11	917	c.756C>T	c.(754-756)atC>atT	p.I252I	PSME3_ENST00000590720.1_Silent_p.I239I|PSME3_ENST00000541124.1_3'UTR|PSME3_ENST00000592169.1_Silent_p.I183I|PSME3_ENST00000545225.1_Silent_p.I178I|PSME3_ENST00000441946.2_Silent_p.I250I	NM_005789.3|NM_176863.2	NP_005780.2|NP_789839.1	P61289	PSME3_HUMAN	proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki)	239					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of proteasomal protein catabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome activator complex	endopeptidase activator activity|identical protein binding|MDM2 binding|p53 binding			NS(1)|cervix(1)|large_intestine(3)|lung(1)	6		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TGAAAAATATCGAGAAGATCA	0.507000													6	19					0	0	1	0	0
CYP4F12	66002	broad.mit.edu	37	19	15807303	15807303	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr19:15807303C>T	ENST00000550308.1	+	12	1758	c.1378C>T	c.(1378-1380)Cct>Tct	p.P460S	CYP4F12_ENST00000324632.9_Missense_Mutation_p.P460S	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					GGCTTTTATTCCTTTCTCCGC	0.557000													47	79					0	0	1	0	0
VRK3	51231	broad.mit.edu	37	19	50482401	50482401	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr19:50482401C>T	ENST00000599538.1	-	14	2039	c.1375G>A	c.(1375-1377)Gat>Aat	p.D459N	VRK3_ENST00000316763.3_Missense_Mutation_p.D459N|VRK3_ENST00000594948.1_Missense_Mutation_p.D459N|VRK3_ENST00000377011.2_Missense_Mutation_p.D409N|VRK3_ENST00000601341.1_Missense_Mutation_p.D409N|VRK3_ENST00000443401.2_Missense_Mutation_p.D228N			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	459						nucleus	ATP binding|protein kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		ACACGCAGATCCTGCAGCAAA	0.567000													8	25					0	0	1	0	0
FHDC1	85462	broad.mit.edu	37	4	153896105	153896105	+	Silent	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr4:153896105C>T	ENST00000511601.1	+	12	1850	c.1662C>T	c.(1660-1662)ttC>ttT	p.F554F	FHDC1_ENST00000260008.3_Silent_p.F554F			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	554					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					TGCTGACCTTCTTGGAGAGCT	0.716000													14	18					0	0	1	0	0
SLC12A3	6559	broad.mit.edu	37	16	56904075	56904075	+	Silent	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr16:56904075C>T	ENST00000438926.2	+	5	698	c.669C>T	c.(667-669)ttC>ttT	p.F223F	SLC12A3_ENST00000563236.1_Silent_p.F223F|SLC12A3_ENST00000566786.1_Silent_p.F222F|SLC12A3_ENST00000262502.5_Silent_p.F222F	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	223					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	GCCTCATTTTCGCTTTCGCCA	0.642000													20	55					0	0	1	0	0
ACSL5	51703	broad.mit.edu	37	10	114185150	114185150	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr10:114185150G>A	ENST00000393081.1	+	18	1955	c.1648G>A	c.(1648-1650)Gga>Aga	p.G550R	ACSL5_ENST00000356116.1_Missense_Mutation_p.G606R|ACSL5_ENST00000433418.1_Missense_Mutation_p.G550R|ACSL5_ENST00000354273.4_Missense_Mutation_p.G550R|ACSL5_ENST00000369410.3_Missense_Mutation_p.G332R|ACSL5_ENST00000354655.4_Missense_Mutation_p.G550R	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	550					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		GCTGGCCCAAGGAGAATACAT	0.383000													14	9					0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971017	21971017	+	Missense_Mutation	SNP	G	G	A	rs121913386		TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr9:21971017G>A	ENST00000304494.5	-	2	611	c.341C>T	c.(340-342)cCc>cTc	p.P114L	CDKN2A_ENST00000530628.2_Silent_p.A128A|CDKN2A_ENST00000446177.1_Missense_Mutation_p.P114L|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Missense_Mutation_p.P114L|CDKN2A_ENST00000498124.1_Missense_Mutation_p.P114L|CDKN2A_ENST00000578845.2_Missense_Mutation_p.P63L|CDKN2A_ENST00000361570.3_Silent_p.A169A|CDKN2A_ENST00000494262.1_Missense_Mutation_p.P63L|CDKN2A_ENST00000479692.2_Missense_Mutation_p.P63L|CDKN2A_ENST00000497750.1_Missense_Mutation_p.P63L|CDKN2A_ENST00000498628.2_Missense_Mutation_p.P63L|CDKN2A_ENST00000579755.1_Silent_p.A128A	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	114			P -> L (in non-small cell lung carcinoma).|P -> S (found in some patients with melanoma; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.P114L(27)|p.P114H(3)|p.H83fs*2(2)|p.V115fs*11(1)|p.0(1)|p.A68fs*3(1)|p.A169A(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CAGGTCCACGGGCAGACGGCC	0.731000	P114L(SKMEL30_SKIN)|P114L(WM983B_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			21	5					0	0	1	0	0
LBX1	10660	broad.mit.edu	37	10	102987032	102987032	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr10:102987032C>T	ENST00000370193.2	-	2	1819	c.841G>A	c.(841-843)Gat>Aat	p.D281N		NM_006562.4	NP_006553.2	P52954	LBX1_HUMAN	ladybird homeobox 1	281	Asp/Glu-rich (highly acidic).				muscle organ development		sequence-specific DNA binding			large_intestine(2)|lung(4)|ovary(1)	7		Colorectal(252;0.234)		Epithelial(162;3.22e-09)|all cancers(201;1.79e-07)		GCCGCTCAATCGTCCACGTCG	0.706000													51	31					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10267724	10267724	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr17:10267724C>T	ENST00000418404.3	-	2	287	c.124G>A	c.(124-126)Gat>Aat	p.D42N	MYH13_ENST00000570743.1_Missense_Mutation_p.D42N|MYH13_ENST00000252172.4_Missense_Mutation_p.D42N			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	42	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCCTTATTATCCGCTACAAAG	0.453000													5	15					0	0	1	0	0
ZNF597	146434	broad.mit.edu	37	16	3487175	3487175	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr16:3487175T>C	ENST00000301744.4	-	4	759	c.524A>G	c.(523-525)cAg>cGg	p.Q175R	LA16c-306E5.2_ENST00000575785.1_RNA	NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN	zinc finger protein 597	175					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						ATGAATTTTCTGATGCAAAAC	0.403000													60	91					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125671778	125671778	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr2:125671778A>T	ENST00000431078.1	+	24	4198	c.3834A>T	c.(3832-3834)gaA>gaT	p.E1278D		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1278					cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AGGAGAAGGAATATCCAGAAA	0.438000													30	38					0	0	1	0	0
KIAA1755	85449	broad.mit.edu	37	20	36859657	36859657	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr20:36859657C>T	ENST00000279024.4	-	5	2089	c.1818G>A	c.(1816-1818)tgG>tgA	p.W606*		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	606										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				AAACTGTGCACCATGGTGCCT	0.632000													11	12					0	0	1	0	0
OR11L1	391189	broad.mit.edu	37	1	248004442	248004442	+	Missense_Mutation	SNP	C	C	T	rs141952418	byFrequency	TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr1:248004442C>T	ENST00000355784.2	-	1	812	c.757G>A	c.(757-759)Ggg>Agg	p.G253R		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			ATCATGGTCCCGTAGTAGAGA	0.493000													16	36					0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89690801	89690801	+	Splice_Site	SNP	A	A	G			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr10:89690801A>G	ENST00000371953.3	+	4	1566		c.e4-1			NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog						activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.L70fs*7(2)|p.Y27fs*1(2)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CTTTTCTTTTAGTTGTGCTGA	0.308000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			11	4					0	0	1	0	0
OR51G1	79324	broad.mit.edu	37	11	4945486	4945486	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr11:4945486C>T	ENST00000321961.2	-	1	151	c.84G>A	c.(82-84)tgG>tgA	p.W28*	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAATAGAGATCCAGCCATGGA	0.468000													11	20					0	0	1	0	0
BAHD1	22893	broad.mit.edu	37	15	40751526	40751526	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr15:40751526C>T	ENST00000561234.1	+	2	1122	c.863C>T	c.(862-864)cCt>cTt	p.P288L	BAHD1_ENST00000416165.1_Missense_Mutation_p.P288L|BAHD1_ENST00000560846.1_Missense_Mutation_p.P288L			Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	288	Pro-rich.				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		TCTGCAACTCCTTGTGGGCCA	0.642000													22	26					0	0	1	0	0
AHSP	51327	broad.mit.edu	37	16	31539946	31539946	+	Silent	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr16:31539946C>T	ENST00000302312.4	+	3	346	c.243C>T	c.(241-243)ttC>ttT	p.F81F	AHSP_ENST00000569954.1_3'UTR	NM_016633.2	NP_057717.1	Q9NZD4	AHSP_HUMAN	alpha hemoglobin stabilizing protein	81					hemoglobin metabolic process|hemopoiesis|protein folding|protein stabilization	hemoglobin complex	hemoglobin binding|unfolded protein binding			lung(2)	2						CCAACCCTTTCCTGGCCAAGT	0.587000													7	16					0	0	1	0	0
ATP9A	10079	broad.mit.edu	37	20	50226691	50226691	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr20:50226691G>A	ENST00000338821.5	-	24	2849	c.2585C>T	c.(2584-2586)tCc>tTc	p.S862F	ATP9A_ENST00000402822.1_Missense_Mutation_p.S741F|ATP9A_ENST00000311637.5_Missense_Mutation_p.S726F	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	862					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GTAAAACACGGAGGAAAAGAC	0.398000													11	23					0	0	1	0	0
PTGFRN	5738	broad.mit.edu	37	1	117484366	117484366	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr1:117484366C>T	ENST00000393203.2	+	2	226	c.79C>T	c.(79-81)Ccc>Tcc	p.P27S		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	27	Ig-like C2-type 1.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		GGTGAGAGTCCCCACAGCGAC	0.527000													21	55					0	0	1	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69096965	69096965	+	Silent	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr4:69096965C>T	ENST00000332644.5	-	7	803	c.642G>A	c.(640-642)ctG>ctA	p.L214L		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	214	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						TGCTGCTGATCAGAGAGGCTC	0.468000													6	12					0	0	1	0	0
ANAPC1	64682	broad.mit.edu	37	2	112608370	112608370	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr2:112608370G>A	ENST00000341068.3	-	14	2405	c.1633C>T	c.(1633-1635)Ctt>Ttt	p.L545F		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	545					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						AATGATCCAAGGAGTTTACTA	0.433000													23	29					0	0	1	0	0
STXBP4	252983	broad.mit.edu	37	17	53084916	53084916	+	Silent	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr17:53084916C>T	ENST00000376352.2	+	8	831	c.624C>T	c.(622-624)tcC>tcT	p.S208S	STXBP4_ENST00000398391.2_Silent_p.S133S|STXBP4_ENST00000299341.4_Silent_p.S133S|STXBP4_ENST00000434978.2_Silent_p.S208S|STXBP4_ENST00000405898.1_Silent_p.S208S	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	208						cytoplasm	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						AAAAGATCTCCCTAAATCCCT	0.363000													142	252					0	0	1	0	0
BRAT1	221927	broad.mit.edu	37	7	2583247	2583247	+	Silent	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr7:2583247C>T	ENST00000340611.4	-	5	1036	c.780G>A	c.(778-780)gtG>gtA	p.V260V		NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	260					response to ionizing radiation	nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						GAAGCAGGTCCACGAACGAGT	0.682000													30	60					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10408543	10408543	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr17:10408543C>T	ENST00000226207.5	-	21	2466	c.2372G>A	c.(2371-2373)cGa>cAa	p.R791Q	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	791	IQ.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GGCCTGGGTTCGGGTAATCAG	0.458000													22	32					0	0	1	0	0
NEU2	4759	broad.mit.edu	37	2	233899687	233899687	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr2:233899687G>A	ENST00000233840.3	+	2	1063	c.1063G>A	c.(1063-1065)Gaa>Aaa	p.E355K		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	355							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		GTGTCTGTACGAAGCCAATGA	0.577000													62	93					0	0	1	0	0
CLDN16	10686	broad.mit.edu	37	3	190105939	190105939	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr3:190105939G>A	ENST00000264734.2	+	1	279	c.31G>A	c.(31-33)Gcc>Acc	p.A11T	CLDN16_ENST00000468220.1_Intron|CLDN16_ENST00000456423.1_Missense_Mutation_p.A11T	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	11					calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		GTTGGTTACAGCCTGTTTGTA	0.493000													5	14					0	0	1	0	0
MBD3L1	85509	broad.mit.edu	37	19	8953826	8953826	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr19:8953826G>A	ENST00000595891.1	+	3	703	c.472G>A	c.(472-474)Gaa>Aaa	p.E158K	MBD3L1_ENST00000305625.2_Missense_Mutation_p.E158K			Q8WWY6	MB3L1_HUMAN	methyl-CpG binding domain protein 3-like 1	158					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	12						CAGGAAACAGGAAGGGAAAGT	0.498000													4	10					0	0	1	0	0
IKBKAP	8518	broad.mit.edu	37	9	111641742	111641742	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr9:111641742T>A	ENST00000374647.5	-	33	3863	c.3556A>T	c.(3556-3558)Aac>Tac	p.N1186Y	IKBKAP_ENST00000467959.1_5'UTR|IKBKAP_ENST00000537196.1_Missense_Mutation_p.N837Y	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	1186					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						ATCCTGGAGTTACTATGGGAG	0.458000													13	30					0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55981468	55981468	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr4:55981468G>A	ENST00000263923.4	-	4	764	c.469C>T	c.(469-471)Ctc>Ttc	p.L157F		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	157	Ig-like C2-type 2.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	GACACGTTGAGATTTGAAATG	0.358000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			5	15					0	0	1	0	0
ZNF581	51545	broad.mit.edu	37	19	56156226	56156226	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr19:56156226G>A	ENST00000587252.1	+	2	562	c.289G>A	c.(289-291)Gag>Aag	p.E97K	ZNF581_ENST00000270451.5_Missense_Mutation_p.E97K|ZNF581_ENST00000588537.1_Missense_Mutation_p.E97K			Q9P0T4	ZN581_HUMAN	zinc finger protein 581	97					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E97K(1)		large_intestine(1)|lung(1)|ovary(1)	3		Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		AAGGGTCTTCGAGTACATGTC	0.592000													24	36					0	0	1	0	0
ZNF460	10794	broad.mit.edu	37	19	57803216	57803216	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr19:57803216C>T	ENST00000360338.3	+	3	1629	c.1307C>T	c.(1306-1308)aCa>aTa	p.T436I	ZNF460_ENST00000537645.1_Missense_Mutation_p.T395I	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	436					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCAGGGCTCACAAGGCACCAG	0.473000													15	20					0	0	1	0	0
NOXRED1	122945	broad.mit.edu	37	14	77880280	77880280	+	Silent	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr14:77880280G>A	ENST00000380835.2	-	2	512	c.346C>T	c.(346-348)Ctg>Ttg	p.L116L	NOXRED1_ENST00000298358.3_Silent_p.L116L	NM_001113475.2	NP_001106946.1	Q6NXP6	CN148_HUMAN	NADP-dependent oxidoreductase domain containing 1	116					proline biosynthetic process		binding|pyrroline-5-carboxylate reductase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						TCCTCACCCAGAGTCTCTGGC	0.572000													5	15					0	0	1	0	0
EPB41L1	2036	broad.mit.edu	37	20	34802308	34802308	+	Silent	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr20:34802308G>A	ENST00000338074.2	+	17	2375	c.2214G>A	c.(2212-2214)agG>agA	p.R738R	EPB41L1_ENST00000441639.1_Intron|EPB41L1_ENST00000373946.3_Silent_p.R558R|EPB41L1_ENST00000202028.5_Intron|EPB41L1_ENST00000373941.1_Silent_p.R737R|EPB41L1_ENST00000373950.2_Silent_p.R629R	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	738					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					CAGTGGGGAGGGAGTTCATAG	0.592000													4	14					0	0	1	0	0
SLC7A13	157724	broad.mit.edu	37	8	87242405	87242405	+	Silent	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr8:87242405G>A	ENST00000297524.3	-	1	205	c.102C>T	c.(100-102)tcC>tcT	p.S34S	SLC7A13_ENST00000520624.1_Intron|SLC7A13_ENST00000419776.2_Silent_p.S34S	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	34						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						CACCTTTGGGGGACACAAAAA	0.468000													18	47					0	0	1	0	0
GC	2638	broad.mit.edu	37	4	72631198	72631198	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr4:72631198C>T	ENST00000273951.8	-	4	767	c.424G>A	c.(424-426)Gat>Aat	p.D142N	GC_ENST00000503472.1_5'UTR|GC_ENST00000513476.1_Missense_Mutation_p.D142N|GC_ENST00000504199.1_Missense_Mutation_p.D161N	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	142	Albumin 1.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	CAGATTTCATCATTTGTGGGT	0.458000													39	61					0	0	1	0	0
FBXO34	55030	broad.mit.edu	37	14	55819043	55819043	+	Silent	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr14:55819043C>T	ENST00000313833.4	+	2	2180	c.1935C>T	c.(1933-1935)tcC>tcT	p.S645S	FBXO34_ENST00000440021.1_Silent_p.S645S	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	645										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						GGGATGTGTCCCTGTGCCGAT	0.532000													22	38					0	0	1	0	0
GSTA1	2938	broad.mit.edu	37	6	52657684	52657684	+	Silent	SNP	G	G	A	rs1051873		TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr6:52657684G>A	ENST00000334575.5	-	6	671	c.516C>T	c.(514-516)tcC>tcT	p.S172S	GSTA1_ENST00000493331.1_5'UTR	NM_145740.3	NP_665683.1	P08263	GSTA1_HUMAN	glutathione S-transferase alpha 1	172	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12	Lung NSC(77;0.118)				Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)	AGATAAGACTGGAGTCAAGCT	0.532000													32	60					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129902716	129902716	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr10:129902716G>A	ENST00000368654.3	-	13	7763	c.7388C>T	c.(7387-7389)tCc>tTc	p.S2463F	MKI67_ENST00000368653.3_Missense_Mutation_p.S2103F	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2463	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AGATTTACAGGATACTTCTGT	0.468000													38	21					0	0	1	0	0
SUN3	256979	broad.mit.edu	37	7	48068433	48068433	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr7:48068433C>T	ENST00000297325.4	-	1	262	c.103G>A	c.(103-105)Gaa>Aaa	p.E35K	SUN3_ENST00000395572.2_Missense_Mutation_p.E35K|SUN3_ENST00000453192.2_5'UTR|SUN3_ENST00000412142.1_5'UTR	NM_001030019.1	NP_001025190.1	Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3	35						integral to membrane				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCAGGATTTTCGTCCTCTGAT	0.458000													27	50					0	0	1	0	0
TENM4	26011	broad.mit.edu	37	11	78387423	78387423	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr11:78387423C>T	ENST00000278550.7	-	30	5732	c.5270G>A	c.(5269-5271)cGg>cAg	p.R1757Q		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		GTAGCTGTTCCGGACTTGGTC	0.622000													7	11					0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100368697	100368697	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr2:100368697G>A	ENST00000317233.4	-	8	1223	c.988C>T	c.(988-990)Cca>Tca	p.P330S	AFF3_ENST00000409579.1_Missense_Mutation_p.P355S|AFF3_ENST00000409236.1_Missense_Mutation_p.P330S|AFF3_ENST00000356421.2_Missense_Mutation_p.P355S	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	330					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TTTGGAAATGGAAATTTGGTT	0.443000													13	19					0	0	1	0	0
HDGFL1	154150	broad.mit.edu	37	6	22570069	22570069	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr6:22570069C>T	ENST00000510882.2	+	1	275	c.265C>T	c.(265-267)Cag>Tag	p.Q89*	HDGFL1_ENST00000230012.3_Nonsense_Mutation_p.Q89*			Q5TGJ6	HDGL1_HUMAN	hepatoma derived growth factor-like 1	89										kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					CCCCACGGTCCAGGCCTCCGA	0.662000													6	10					0	0	1	0	0
PCDHB13	56123	broad.mit.edu	37	5	140594626	140594626	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr5:140594626G>A	ENST00000341948.4	+	1	1118	c.931G>A	c.(931-933)Gaa>Aaa	p.E311K		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		311	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.E311K(2)		NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTCGATTTCGAAAAACTTCA	0.378000													42	79					0	0	1	0	0
MOV10L1	54456	broad.mit.edu	37	22	50599200	50599200	+	Silent	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr22:50599200C>T	ENST00000262794.5	+	25	3491	c.3408C>T	c.(3406-3408)atC>atT	p.I1136I	MOV10L1_ENST00000395852.1_Silent_p.I263I|MOV10L1_ENST00000540615.1_Silent_p.I1116I|MOV10L1_ENST00000545383.1_Silent_p.I1136I|MOV10L1_ENST00000395858.3_Intron	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	1136					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		ATGTTGCAATCACCAGACCCA	0.433000													11	23					0	0	1	0	0
PDPR	55066	broad.mit.edu	37	16	70163017	70163017	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr16:70163017C>T	ENST00000288050.4	+	6	1556	c.599C>T	c.(598-600)tCc>tTc	p.S200F	PDPR_ENST00000398122.3_Missense_Mutation_p.S100F|PDPR_ENST00000568530.1_Missense_Mutation_p.S200F	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	200					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		AGTGCTGCCTCCCAAAATGGT	0.517000													27	124					0	0	1	0	0
MOB2	81532	broad.mit.edu	37	11	1502019	1502019	+	Silent	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr11:1502019G>A	ENST00000329957.6	-	2	396	c.207C>T	c.(205-207)ttC>ttT	p.F69F	MOB2_ENST00000526462.1_5'UTR	NM_001172223.1	NP_001165694.1	Q70IA6	MOB2_HUMAN	MOB kinase activator 2	38						nucleus|perinuclear region of cytoplasm	metal ion binding			breast(1)|kidney(2)|lung(1)	4						CCTTGAACTGGAAGTCGGTGA	0.647000													4	4					0	0	1	0	0
PIGL	9487	broad.mit.edu	37	17	16220068	16220068	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr17:16220068C>T	ENST00000498772.2	+	5	585	c.568C>T	c.(568-570)Cct>Tct	p.P190S	PIGL_ENST00000225609.5_Intron|PIGL_ENST00000581006.1_Intron|PIGL_ENST00000395844.3_Intron			Q9Y2B2	PIGL_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class L	0					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminylphosphatidylinositol deacetylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11				UCEC - Uterine corpus endometrioid carcinoma (92;0.0934)		AGATACTGTCCCTCTGAGAAA	0.537000													5	17					0	0	1	0	0
CSN2	1447	broad.mit.edu	37	4	70824645	70824645	+	Silent	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr4:70824645C>T	ENST00000353151.3	-	4	137	c.126G>A	c.(124-126)gaG>gaA	p.E42E		NM_001891.2	NP_001882.1	P05814	CASB_HUMAN	casein beta	42					calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						GCTGCTGGTCCTCATGTTTAA	0.254000													5	11					0	0	1	0	0
ZNF71	58491	broad.mit.edu	37	19	57133826	57133826	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr19:57133826T>C	ENST00000328070.6	+	3	1405	c.1171T>C	c.(1171-1173)Ttc>Ctc	p.F391L		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	391						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CAAGAAGCACTTCACGGGGCG	0.637000													29	37					0	0	1	0	0
SCML2	10389	broad.mit.edu	37	X	18283722	18283722	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chrX:18283722G>A	ENST00000251900.4	-	8	1090	c.931C>T	c.(931-933)Cca>Tca	p.P311S	SCML2_ENST00000398048.3_Missense_Mutation_p.P47S	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	311					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					CCTGAGTTTGGACCTTTTTTC	0.353000													46	63					0	0	1	0	0
PCSK1	5122	broad.mit.edu	37	5	95730697	95730697	+	Silent	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr5:95730697C>T	ENST00000311106.3	-	13	1992	c.1755G>A	c.(1753-1755)gtG>gtA	p.V585V	PCSK1_ENST00000513085.1_5'UTR|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Silent_p.V538V	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	585					cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GCTTCCAGTTCACAATTCTTC	0.378000													17	33					0	0	1	0	0
DDX43	55510	broad.mit.edu	37	6	74104638	74104638	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr6:74104638C>T	ENST00000370336.4	+	1	168	c.10C>T	c.(10-12)Cac>Tac	p.H4Y	OOEP_ENST00000370363.1_5'UTR|DDX43_ENST00000539829.1_Missense_Mutation_p.H4Y	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	4						intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						AATGTCCCACCACGGAGGAGC	0.637000													17	65					0	0	1	0	0
WFDC2	10406	broad.mit.edu	37	20	44099042	44099042	+	Silent	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr20:44099042G>A	ENST00000372676.3	+	2	169	c.93G>A	c.(91-93)gaG>gaA	p.E31E	WFDC2_ENST00000339946.3_Intron|AL031663.1_ENST00000599747.1_Intron|WFDC2_ENST00000217425.5_Silent_p.E31E	NM_006103.3	NP_006094.3	Q14508	WFDC2_HUMAN	WAP four-disulfide core domain 2	31	WAP 1.				proteolysis|spermatogenesis	extracellular space	serine-type endopeptidase inhibitor activity			lung(1)	1		Myeloproliferative disorder(115;0.0122)				CAGGAGCAGAGAAGACTGGCG	0.662000													4	3					0	0	1	0	0
STARD3	10948	broad.mit.edu	37	17	37809935	37809935	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr17:37809935C>T	ENST00000336308.5	+	2	369	c.151C>T	c.(151-153)Cgc>Tgc	p.R51C	STARD3_ENST00000394250.4_Missense_Mutation_p.R51C|STARD3_ENST00000580611.1_Missense_Mutation_p.R51C|STARD3_ENST00000578232.1_3'UTR|STARD3_ENST00000544210.2_Missense_Mutation_p.R51C	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain containing 3	51	MENTAL.				cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process	integral to membrane|late endosome membrane	cholesterol binding|cholesterol transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TGATGTCCGCCGCACCTTCTG	0.627000											OREG0024381	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	49					0	0	1	0	0
UBP1	7342	broad.mit.edu	37	3	33438579	33438579	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr3:33438579C>T	ENST00000283629.3	-	12	1758	c.1229G>A	c.(1228-1230)gGt>gAt	p.G410D	UBP1_ENST00000486388.1_5'UTR|UBP1_ENST00000283628.5_Missense_Mutation_p.G410D|UBP1_ENST00000447368.2_Missense_Mutation_p.G374D	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	410					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						ATCGGCTGCACCACAAATTTG	0.363000													8	27					0	0	1	0	0
OLFM1	10439	broad.mit.edu	37	9	138011718	138011718	+	Silent	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr9:138011718C>T	ENST00000252854.4	+	6	1285	c.1098C>T	c.(1096-1098)ccC>ccT	p.P366P	OLFM1_ENST00000371796.3_Silent_p.P357P|OLFM1_ENST00000371793.3_Silent_p.P384P	NM_014279.4	NP_055094.1	Q99784	NOE1_HUMAN	olfactomedin 1	384	Olfactomedin-like.				nervous system development	endoplasmic reticulum lumen	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		GGCTGGACCCCGTGTCCCTGC	0.647000													11	24					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48691030	48691030	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr8:48691030G>A	ENST00000314191.2	-	84	11896	c.11840C>T	c.(11839-11841)tCc>tTc	p.S3947F	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.S3916F	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3948	PI3K/PI4K.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CTGTGTAGCGGATCCAAACGC	0.512000								Non-homologous end-joining					3	7					0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70332969	70332969	+	Silent	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr11:70332969G>A	ENST00000338508.4	-	32	3431	c.3432C>T	c.(3430-3432)tcC>tcT	p.S1144S	SHANK2_ENST00000449833.2_Silent_p.S548S|SHANK2_ENST00000409161.1_Silent_p.S547S|SHANK2_ENST00000423696.2_Silent_p.S764S			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	764					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TCGGCATGGGGGATGACAGCT	0.682000													19	34					0	0	1	0	0
CSN2	1447	broad.mit.edu	37	4	70824644	70824644	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr4:70824644C>T	ENST00000353151.3	-	4	138	c.127G>A	c.(127-129)Gac>Aac	p.D43N		NM_001891.2	NP_001882.1	P05814	CASB_HUMAN	casein beta	43					calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						TGCTGCTGGTCCTCATGTTTA	0.249000													5	11					0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122003369	122003369	+	Silent	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr3:122003369G>A	ENST00000498619.1	+	7	3036	c.2598G>A	c.(2596-2598)aaG>aaA	p.K866K	CASR_ENST00000296154.5_Silent_p.K856K|CASR_ENST00000490131.1_Silent_p.K856K	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	856					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TCTTCAACAAGATCTACATCA	0.572000													18	15					0	0	1	0	0
HNRNPA0	10949	broad.mit.edu	37	5	137089423	137089423	+	Silent	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr5:137089423C>T	ENST00000314940.4	-	1	616	c.333G>A	c.(331-333)gaG>gaA	p.E111E		NM_006805.3	NP_006796.1	Q13151	ROA0_HUMAN	heterogeneous nuclear ribonucleoprotein A0	111	RRM 2.				nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|RNA binding			large_intestine(1)|lung(2)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCAGGTCGCCCTCAGCCACGT	0.607000													37	43					0	0	1	0	0
C1QTNF9	338872	broad.mit.edu	37	13	24895217	24895217	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr13:24895217C>T	ENST00000382071.2	+	4	398	c.313C>T	c.(313-315)Ctt>Ttt	p.L105F	C1QTNF9_ENST00000332018.4_Missense_Mutation_p.L105F|C1QTNF9-AS1_ENST00000449656.1_RNA			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	105	Collagen-like 2.					collagen	hormone activity			endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		CCCCAAGGGGCTTGCAGGGCC	0.572000													13	12					0	0	1	0	0
ILDR1	286676	broad.mit.edu	37	3	121707229	121707229	+	Silent	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr3:121707229C>T	ENST00000273691.3	-	7	1599	c.1494G>A	c.(1492-1494)agG>agA	p.R498R	ILDR1_ENST00000344209.5_Silent_p.R542R|ILDR1_ENST00000462014.1_Silent_p.R510R|ILDR1_ENST00000393631.1_Silent_p.R453R	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	542						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		TGACCACACTCCTTCCACTAT	0.448000													10	13					0	0	1	0	0
KCTD2	23510	broad.mit.edu	37	17	73055678	73055678	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr17:73055678C>T	ENST00000322444.6	+	4	620	c.614C>T	c.(613-615)tCc>tTc	p.S205F	KCTD2_ENST00000581589.1_Missense_Mutation_p.S6F	NM_015353.1	NP_056168.1	Q14681	KCTD2_HUMAN	potassium channel tetramerization domain containing 2	205						voltage-gated potassium channel complex	voltage-gated potassium channel activity			kidney(1)|lung(2)	3	all_lung(278;0.226)					TCCACGATGTCCGACGGCTGG	0.552000													15	22					0	0	1	0	0
HSPA9	3313	broad.mit.edu	37	5	137906690	137906690	+	Silent	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr5:137906690G>A	ENST00000297185.3	-	4	494	c.369C>T	c.(367-369)ctC>ctT	p.L123L		NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)	123					anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GCCGGCCAATGAGACGCTTGG	0.458000													36	58					0	0	1	0	0
ZNF260	339324	broad.mit.edu	37	19	37005999	37005999	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr19:37005999T>C	ENST00000523638.1	-	3	1263	c.142A>G	c.(142-144)Atg>Gtg	p.M48V	ZNF260_ENST00000588993.1_Missense_Mutation_p.M48V|ZNF260_ENST00000593142.1_Missense_Mutation_p.M48V|ZNF260_ENST00000592282.1_Missense_Mutation_p.M48V	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	48					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					CCAGTATGCATTTTCTTATGC	0.378000													24	45					0	0	1	0	0
PCDHA1	56147	broad.mit.edu	37	5	140167370	140167370	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr5:140167370G>A	ENST00000504120.2	+	1	1495	c.1495G>A	c.(1495-1497)Gtg>Atg	p.V499M	PCDHA1_ENST00000394633.3_Missense_Mutation_p.V499M|PCDHA1_ENST00000378133.3_Missense_Mutation_p.V499M	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAACGGCGGGTGGGCGAGCG	0.677000													34	48					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32634732	32634732	+	Silent	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr9:32634732C>T	ENST00000242310.4	-	1	935	c.846G>A	c.(844-846)agG>agA	p.R282R	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	282					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GATGCTTCTTCCTCTTTCTCC	0.463000													36	55					0	0	1	0	0
CSTF3	1479	broad.mit.edu	37	11	33123833	33123833	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr11:33123833G>A	ENST00000323959.4	-	10	855	c.716C>T	c.(715-717)cCt>cTt	p.P239L	TCP11L1_ENST00000324357.9_Intron	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	239					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						AGTATTCTGAGGAGGCACCGA	0.433000													22	34					0	0	1	0	0
UBN1	29855	broad.mit.edu	37	16	4924931	4924931	+	Silent	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr16:4924931C>T	ENST00000396658.4	+	14	3223	c.2520C>T	c.(2518-2520)tcC>tcT	p.S840S	UBN1_ENST00000545171.1_Silent_p.S840S|UBN1_ENST00000590769.1_Silent_p.S840S|UBN1_ENST00000262376.6_Silent_p.S840S	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	840					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						GTCATCGTTCCCTCCTGCAGT	0.577000													24	31					0	0	1	0	0
NRG2	9542	broad.mit.edu	37	5	139251379	139251379	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr5:139251379C>T	ENST00000394770.1	-	4	1263	c.1039G>A	c.(1039-1041)Gag>Aag	p.E347K	NRG2_ENST00000289409.4_Missense_Mutation_p.E347K|NRG2_ENST00000358522.3_Missense_Mutation_p.E347K|NRG2_ENST00000518130.1_5'UTR|NRG2_ENST00000361474.1_Missense_Mutation_p.E347K|NRG2_ENST00000340391.3_Missense_Mutation_p.E144K|NRG2_ENST00000541337.1_Intron|NRG2_ENST00000289422.7_Missense_Mutation_p.E347K|NRG2_ENST00000545385.1_Missense_Mutation_p.E347K			O14511	NRG2_HUMAN	neuregulin 2	347	EGF-like.				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGGCTGTCTCGTTGCACTTC	0.582000													31	46					0	0	1	0	0
NT5C3B	115024	broad.mit.edu	37	17	39983726	39983726	+	Silent	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr17:39983726C>T	ENST00000269534.8	-	8	797	c.696G>A	c.(694-696)ggG>ggA	p.G232G	NT5C3B_ENST00000435506.2_Silent_p.G240G|NT5C3B_ENST00000521789.1_Intron	NM_052935.4	NP_443167.4			5'-nucleotidase, cytosolic IIIB																		CACCAGGAACCCCATCGGCCA	0.507000													35	56					0	0	1	0	0
KDM5B	10765	broad.mit.edu	37	1	202710611	202710611	+	Silent	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr1:202710611G>A	ENST00000367265.3	-	19	3993	c.2829C>T	c.(2827-2829)gaC>gaT	p.D943D	KDM5B_ENST00000367264.2_Silent_p.D979D	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	943					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CTACCCCTAGGTCTATGAGAC	0.547000													13	23					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12337004	12337004	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr1:12337004T>A	ENST00000358136.3	+	19	3489	c.3359T>A	c.(3358-3360)gTg>gAg	p.V1120E	VPS13D_ENST00000356315.4_Missense_Mutation_p.V1120E	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	1120					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GAGACGATTGTGGAGCTAATT	0.368000													25	25					0	0	1	0	0
MIA3	375056	broad.mit.edu	37	1	222801814	222801814	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr1:222801814G>A	ENST00000344922.5	+	4	1277	c.1252G>A	c.(1252-1254)Gca>Aca	p.A418T	MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Missense_Mutation_p.A418T|MIA3_ENST00000344507.1_Missense_Mutation_p.A418T	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	418					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		TGATGATGATGCATTAGTCCC	0.398000													24	49					0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55273210	55273210	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr7:55273210C>T	ENST00000275493.2	+	28	3710	c.3533C>T	c.(3532-3534)cCc>cTc	p.P1178L	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.P1125L	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	1178					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GACTTCTTTCCCAAGGAAGCC	0.517000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			6	19					0	0	1	0	0
OR7D2	162998	broad.mit.edu	37	19	9296743	9296743	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr19:9296743G>A	ENST00000344248.2	+	1	465	c.286G>A	c.(286-288)Gac>Aac	p.D96N		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	96					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						CTCCTACATGGACTGCCTCAC	0.522000													36	58					0	0	1	0	0
CNDP1	84735	broad.mit.edu	37	18	72245447	72245447	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr18:72245447G>A	ENST00000582365.1	+	8	989	c.923G>A	c.(922-924)gGg>gAg	p.G308E	CNDP1_ENST00000358821.3_Missense_Mutation_p.G351E			Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	351					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		TCTATTCATGGGATCGAGGGC	0.418000													20	54					0	0	1	0	0
PCSK7	9159	broad.mit.edu	37	11	117094835	117094835	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr11:117094835T>A	ENST00000320934.3	-	8	1643	c.1013A>T	c.(1012-1014)aAc>aTc	p.N338I	PCSK7_ENST00000540028.1_5'UTR	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	338	Catalytic.				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		GCCATCGTAGTTGCAGTTGTC	0.547000			T	IGH@	MLCLS								23	24					0	0	1	0	0
FAM83G	644815	broad.mit.edu	37	17	18881273	18881273	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr17:18881273C>T	ENST00000388995.6	-	5	1929	c.1706G>A	c.(1705-1707)gGg>gAg	p.G569E	FAM83G_ENST00000585154.2_Missense_Mutation_p.G569E|FAM83G_ENST00000345041.4_Missense_Mutation_p.G569E|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395647.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	569										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						GAGCCCCACCCCGAGGCTCTC	0.632000													28	54					0	0	1	0	0
HTR4	3360	broad.mit.edu	37	5	147929810	147929810	+	Silent	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr5:147929810G>A	ENST00000360693.3	-	3	180	c.42C>T	c.(40-42)ttC>ttT	p.F14F	HTR4_ENST00000517929.1_Silent_p.F14F|HTR4_ENST00000520514.1_Silent_p.F14F|HTR4_ENST00000377888.3_Silent_p.F14F|HTR4_ENST00000521530.1_Silent_p.F14F|HTR4_ENST00000521735.1_Silent_p.F14F|HTR4_ENST00000314512.6_Silent_p.F14F|HTR4_ENST00000362016.2_Silent_p.F14F|HTR4_ENST00000519495.1_5'UTR|HTR4_ENST00000354217.2_Silent_p.F14F	NM_001040173.2	NP_001035263.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	14					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	CCACTGACCCGAAACCCTCCT	0.493000													11	28					0	0	1	0	0
DNAAF1	123872	broad.mit.edu	37	16	84209775	84209775	+	Silent	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr16:84209775C>T	ENST00000378553.5	+	11	2059	c.1935C>T	c.(1933-1935)ccC>ccT	p.P645P	DNAAF1_ENST00000563818.1_3'UTR	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	645					axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						CCCCAAGACCCCTGATCCAGG	0.557000													8	15					0	0	1	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18809378	18809378	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr1:18809378G>A	ENST00000400664.1	+	1	1955	c.1903G>A	c.(1903-1905)Gaa>Aaa	p.E635K		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	635						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GCGTGCCAAGGAAATCTTCGT	0.711000													15	21					0	0	1	0	0
SUPT6H	6830	broad.mit.edu	37	17	27018067	27018067	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr17:27018067C>T	ENST00000314616.6	+	27	3902	c.3619C>T	c.(3619-3621)Cct>Tct	p.P1207S	SUPT6H_ENST00000347486.4_Missense_Mutation_p.P1207S	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1207					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GGACAATTTCCCTGAACTAAG	0.537000													6	16					0	0	1	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142481913	142481913	+	RNA	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr7:142481913G>A	ENST00000603901.1	+	0	591					NR_001296.3																						TTCCTGCCAGGTGATTAGACC	0.532000													15	35					0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169267785	169267785	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr5:169267785G>A	ENST00000256935.8	+	27	2808	c.2728G>A	c.(2728-2730)Gag>Aag	p.E910K	DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.E402K|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	910					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCATATCCAGGAGATCATGGT	0.473000													10	10					0	0	1	0	0
PCDHGA7	56108	broad.mit.edu	37	5	140762691	140762691	+	Silent	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr5:140762691C>T	ENST00000518325.1	+	1	225	c.225C>T	c.(223-225)ttC>ttT	p.F75F	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCAGCTTTTCGCCCTGAACC	0.627000													45	43					0	0	1	0	0
LPCAT4	254531	broad.mit.edu	37	15	34651894	34651894	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr15:34651894C>T	ENST00000314891.6	-	13	1472	c.1295G>A	c.(1294-1296)gGc>gAc	p.G432D		NM_153613.2	NP_705841.2	Q643R3	LPCT4_HUMAN	lysophosphatidylcholine acyltransferase 4	432					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|calcium ion binding			NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						GGTGCTGAAGCCGTCTTTGTA	0.582000													10	17					0	0	1	0	0
FAM179A	165186	broad.mit.edu	37	2	29222135	29222135	+	Silent	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr2:29222135G>A	ENST00000379558.4	+	4	579	c.228G>A	c.(226-228)aaG>aaA	p.K76K	FAM179A_ENST00000403861.2_Silent_p.K76K	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	76							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GTGGCCTCAAGCTGGACACCC	0.632000													6	6					0	0	1	0	0
NCOR2	9612	broad.mit.edu	37	12	124915283	124915283	+	Silent	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr12:124915283C>T	ENST00000356219.3	-	10	1088	c.933G>A	c.(931-933)aaG>aaA	p.K311K	NCOR2_ENST00000429285.2_Silent_p.K311K|NCOR2_ENST00000405201.1_Silent_p.K311K|NCOR2_ENST00000404621.1_Silent_p.K311K|NCOR2_ENST00000404121.2_5'UTR|NCOR2_ENST00000397355.1_Silent_p.K311K	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	311	Interaction with SIN3A/B (By similarity).				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCTCCACCTTCTTCTCCCAGG	0.642000													43	62					0	0	1	0	0
SPATA21	374955	broad.mit.edu	37	1	16736184	16736184	+	Silent	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr1:16736184G>A	ENST00000335496.1	-	6	981	c.499C>T	c.(499-501)Ctg>Ttg	p.L167L	SPATA21_ENST00000540400.1_Silent_p.L144L|SPATA21_ENST00000466212.1_5'UTR	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	167	Pro-rich.						calcium ion binding			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		GGGCCCAGCAGGACAGGGCAA	0.701000													9	11					0	0	1	0	0
MROH5	389690	broad.mit.edu	37	8	142506556	142506556	+	RNA	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr8:142506556C>T	ENST00000430863.1	-	0	206					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5																		GGTGTACCTTCATGCAAGATG	0.567000													13	19					0	0	1	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83352802	83352802	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chrX:83352802G>A	ENST00000262752.2	-	19	1838	c.1831C>T	c.(1831-1833)Ctt>Ttt	p.L611F	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.L611F|RPS6KA6_ENST00000495332.1_5'UTR	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	611	Protein kinase 2.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						GTGTAAAAAAGGACTCCTAAA	0.313000													51	81					0	0	1	0	0
PYGL	5836	broad.mit.edu	37	14	51383723	51383723	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr14:51383723G>A	ENST00000216392.7	-	8	1288	c.956C>T	c.(955-957)tCc>tTc	p.S319F	PYGL_ENST00000544180.2_Missense_Mutation_p.S285F|PYGL_ENST00000532462.1_Missense_Mutation_p.S319F	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	319					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	ACCACGGGTGGAGCCAAACTT	0.488000													14	36					0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13364912	13364912	+	Silent	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr3:13364912C>T	ENST00000254508.5	-	34	4747	c.4665G>A	c.(4663-4665)caG>caA	p.Q1555Q		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1555					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CCATGATCCTCTGAGGGACGC	0.602000													30	44					0	0	1	0	0
AMOTL2	51421	broad.mit.edu	37	3	134079154	134079154	+	Silent	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr3:134079154G>A	ENST00000514516.1	-	7	2029	c.1851C>T	c.(1849-1851)atC>atT	p.I617I	AMOTL2_ENST00000513145.1_Silent_p.I557I|AMOTL2_ENST00000422605.2_Silent_p.I559I|AMOTL2_ENST00000249883.5_Silent_p.I559I	NM_001278683.1	NP_001265612.1	Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	559										endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						CCAGCGCCAGGATCTGCTCCT	0.617000													10	22					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136548228	136548228	+	Splice_Site	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr2:136548228C>T	ENST00000264162.2	-	15	5345	c.5335_splice	c.e15+1	p.A1779_splice		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1779	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CCCGTCGTACCTTTGAGGGCC	0.527000													10	12					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													4	37					0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20673143	20673143	+	Missense_Mutation	SNP	C	C	T	rs146842441		TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr16:20673143C>T	ENST00000307493.4	-	6	1032	c.965G>A	c.(964-966)cGa>cAa	p.R322Q	ACSM1_ENST00000219151.4_5'UTR|ACSM1_ENST00000520010.1_Missense_Mutation_p.R322Q	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	322					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	p.R322Q(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						CAGAATCATTCGATATATAGA	0.358000													11	20					0	0	1	0	0
NUMA1	4926	broad.mit.edu	37	11	71715345	71715345	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr11:71715345G>A	ENST00000393695.3	-	25	6380	c.6049C>T	c.(6049-6051)Cga>Tga	p.R2017*	NUMA1_ENST00000351960.6_Nonsense_Mutation_p.R881*|NUMA1_ENST00000358965.6_Nonsense_Mutation_p.R2003*	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	2017					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TGTCGGTCTCGGGGAGTCATG	0.552000			T	RARA	APL								14	30					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117655918	117655918	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr12:117655918C>T	ENST00000317775.6	-	28	4907	c.4222G>A	c.(4222-4224)Gaa>Aaa	p.E1408K	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Missense_Mutation_p.E1442K	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	1408					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TTGGTCACTTCGTACGTTCGC	0.488000													106	158					0	0	1	0	0
OR1D4	653166	broad.mit.edu	37	17	3144091	3144091	+	RNA	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr17:3144091G>A	ENST00000531680.1	+	0	122					NR_033795.1				olfactory receptor, family 1, subfamily D, member 4 (gene/pseudogene)																		ACGGTGCTGGGAAATGTGCTC	0.532000													17	71					0	0	1	0	0
FAM83G	644815	broad.mit.edu	37	17	18882890	18882890	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr17:18882890C>T	ENST00000388995.6	-	4	1010	c.787G>A	c.(787-789)Gga>Aga	p.G263R	FAM83G_ENST00000585154.2_Missense_Mutation_p.G263R|FAM83G_ENST00000345041.4_Missense_Mutation_p.G263R|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395647.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	263										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						GCCCGGTCTCCATCCACAAAC	0.577000													15	21					0	0	1	0	0
GSTM5	2949	broad.mit.edu	37	1	110258014	110258014	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr1:110258014C>T	ENST00000369813.1	+	5	1501	c.596C>T	c.(595-597)tCg>tTg	p.S199L	GSTM5_ENST00000492718.1_3'UTR|GSTM5_ENST00000369812.5_Intron|GSTM5_ENST00000256593.3_Intron			P46439	GSTM5_HUMAN	glutathione S-transferase mu 5	0	GST C-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	ttatacctatcgtgtagaatt	0.413000													2	1					0	0	1	0	0
SCUBE2	57758	broad.mit.edu	37	11	9052323	9052323	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr11:9052323G>A	ENST00000457346.2	-	18	2397	c.2323C>T	c.(2323-2325)Cag>Tag	p.Q775*	SCUBE2_ENST00000520467.1_Nonsense_Mutation_p.Q718*|SCUBE2_ENST00000309263.3_Nonsense_Mutation_p.Q746*|SCUBE2_ENST00000450649.2_Nonsense_Mutation_p.Q620*|RP11-467K18.2_ENST00000531592.1_RNA			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	746						extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		TCACAGTCCTGAAAGGAAGTA	0.537000													27	35					0	0	1	0	0
SUSD2	56241	broad.mit.edu	37	22	24584053	24584053	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr22:24584053C>T	ENST00000358321.3	+	13	2552	c.2291C>T	c.(2290-2292)aCc>aTc	p.T764I		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	764	Sushi.				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						GAGACCAGCACCTGCCAGGCT	0.632000													32	71					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22154181	22154181	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr19:22154181G>A	ENST00000397126.4	-	4	3803	c.3655C>T	c.(3655-3657)Cat>Tat	p.H1219Y	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TCTCCAGTATGAATTTTCTTG	0.378000													13	22					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48855781	48855781	+	Silent	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr8:48855781G>A	ENST00000314191.2	-	10	1010	c.954C>T	c.(952-954)tcC>tcT	p.S318S	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.S318S	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	318					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GTTTCAGAAAGGATTCCAGGG	0.368000								Non-homologous end-joining					5	9					0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32188317	32188317	+	Missense_Mutation	SNP	C	C	T	rs144492578	byFrequency	TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr6:32188317C>T	ENST00000375023.3	-	6	1162	c.1024G>A	c.(1024-1026)Gtg>Atg	p.V342M		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	342	EGF-like 8; calcium-binding (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CTCACACACACGCAGTGAAAG	0.612000													29	43					0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128387252	128387252	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr2:128387252G>A	ENST00000389524.4	+	34	4632	c.4579G>A	c.(4579-4581)Gac>Aac	p.D1527N	MYO7B_ENST00000428314.1_Missense_Mutation_p.D1527N|MYO7B_ENST00000409816.2_Missense_Mutation_p.D1527N|MYO7B_ENST00000409090.1_Missense_Mutation_p.D380N			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1527	SH3 1.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CAAGAAGGGGGACCTGTTGGT	0.612000													6	13					0	0	1	0	0
WWC3	55841	broad.mit.edu	37	X	10094318	10094318	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chrX:10094318T>C	ENST00000380861.4	+	15	2469	c.2078T>C	c.(2077-2079)gTg>gCg	p.V693A	WWC3_ENST00000454666.1_Missense_Mutation_p.V693A	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	693	C2.									NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						GTGTGTTCAGTGACTCCGCAG	0.547000													38	60					0	0	1	0	0
PRDM1	639	broad.mit.edu	37	6	106552809	106552809	+	Silent	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr6:106552809C>T	ENST00000369096.4	+	5	1008	c.774C>T	c.(772-774)tcC>tcT	p.S258S	PRDM1_ENST00000369091.2_Silent_p.S222S|PRDM1_ENST00000369089.3_Silent_p.S124S	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	258					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		AATTGGACTCCAACCCCTCCA	0.468000			"""D, N, Mis, F, S"""		DLBCL								97	54					0	0	1	0	0
ELOVL3	83401	broad.mit.edu	37	10	103988837	103988837	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr10:103988837C>T	ENST00000370005.3	+	4	862	c.641C>T	c.(640-642)gCc>gTc	p.A214V		NM_152310.1	NP_689523.1	Q9HB03	ELOV3_HUMAN	ELOVL fatty acid elongase 3	214					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16		Colorectal(252;0.207)		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)		TTTGTAGGAGCCATCGTCAGC	0.507000													13	1					0	0	1	0	0
COL6A5	256076	broad.mit.edu	37	3	130095343	130095343	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr3:130095343G>A	ENST00000265379.6	+	3	825	c.331G>A	c.(331-333)Gga>Aga	p.G111R	COL6A5_ENST00000432398.2_Missense_Mutation_p.G111R			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	111	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CCTGCAGATAGGAAAGGCTCT	0.507000													3	3					0	0	1	0	0
STK32B	55351	broad.mit.edu	37	4	5141682	5141682	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr4:5141682G>A	ENST00000282908.5	+	2	525	c.103G>A	c.(103-105)Gga>Aga	p.G35R	STK32B_ENST00000510398.1_5'UTR|STK32B_ENST00000512636.1_5'UTR	NM_018401.1	NP_060871.1	Q9NY57	ST32B_HUMAN	serine/threonine kinase 32B	35	Protein kinase.		G -> E (in a metastatic melanoma sample; somatic mutation).				ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						AGGGAGTTTTGGAAAGGTAAG	0.403000													28	59					0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47479668	47479668	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr18:47479668C>T	ENST00000285039.7	-	14	2013	c.1714G>A	c.(1714-1716)Gtg>Atg	p.V572M		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	572	Myosin head-like.				protein transport	myosin complex	actin binding|ATP 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)		TCTTCATACACCGTGTCTCTG	0.527000													18	33					0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12708415	12708415	+	Silent	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chrX:12708415C>T	ENST00000380682.1	+	8	1289	c.783C>T	c.(781-783)ctC>ctT	p.L261L		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	261	FERM.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CGAAGCTGCTCTTGCTTCATG	0.488000													36	46					0	0	1	0	0
PCDHB15	56121	broad.mit.edu	37	5	140625546	140625546	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr5:140625546C>T	ENST00000231173.3	+	1	400	c.400C>T	c.(400-402)Cct>Tct	p.P134S		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		134					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCTGAGTTTCCTGAAAGAGA	0.428000													48	43					0	0	1	0	0
DENND5A	23258	broad.mit.edu	37	11	9215197	9215197	+	Silent	SNP	C	C	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr11:9215197C>A	ENST00000328194.3	-	5	1301	c.981G>T	c.(979-981)acG>acT	p.T327T	DENND5A_ENST00000530044.1_Silent_p.T327T	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	327	DENN.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GAGCTGTAATCGTCTCCGCCA	0.448000													7	14					2.7689e-08	2.81934e-08	1	1	0
RNF207	388591	broad.mit.edu	37	1	6266692	6266692	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr1:6266692G>A	ENST00000377939.4	+	2	224	c.97G>A	c.(97-99)Gag>Aag	p.E33K	RNF207_ENST00000377948.2_5'UTR	NM_207396.2	NP_997279.2	Q6ZRF8	RN207_HUMAN	ring finger protein 207	33						intracellular	zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2)	16	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		CGTGCAGTACGAGCGCCCGTG	0.687000													21	15					0	0	1	0	0
PLEKHM1P	440456	broad.mit.edu	37	17	62818034	62818034	+	RNA	SNP	A	A	G			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr17:62818034A>G	ENST00000582986.1	-	0	464					NR_024386.1																						GCTGGGATGAACTGGCCGTGT	0.542000													4	18					0	0	1	0	0
KIF27	55582	broad.mit.edu	37	9	86482656	86482656	+	Silent	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr9:86482656C>T	ENST00000297814.2	-	13	3020	c.2877G>A	c.(2875-2877)aaG>aaA	p.K959K	RP11-575L7.4_ENST00000591217.1_RNA|RP11-575L7.4_ENST00000589233.1_RNA|RP11-575L7.4_ENST00000590368.1_RNA|RP11-575L7.4_ENST00000586211.1_RNA|RP11-575L7.4_ENST00000589817.1_RNA|KIF27_ENST00000334204.2_Intron|RP11-575L7.4_ENST00000421734.3_RNA|KIF27_ENST00000413982.1_Silent_p.K893K	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	959					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						ACAGAGCCTCCTTCTTAGAAA	0.398000													21	42					0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558362	140558362	+	Silent	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr5:140558362G>A	ENST00000239444.2	+	1	992	c.747G>A	c.(745-747)agG>agA	p.R249R		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		249	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTTCTATAGGGTGCAGATCT	0.488000													52	509					0	0	1	0	0
ZNF177	7730	broad.mit.edu	37	19	9492313	9492313	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr19:9492313T>G	ENST00000541595.2	+	12	1455	c.826T>G	c.(826-828)Tcc>Gcc	p.S276A	ZNF177_ENST00000590616.1_Intron|ZNF177_ENST00000446085.4_3'UTR|ZNF177_ENST00000602856.1_3'UTR|ZNF177_ENST00000602738.1_Missense_Mutation_p.S276A|ZNF177_ENST00000434737.2_Missense_Mutation_p.S436A|ZNF177_ENST00000589262.1_Missense_Mutation_p.S436A|ZNF177_ENST00000343499.4_Missense_Mutation_p.S276A	NM_001172650.2	NP_001166121.1	Q13360	ZN177_HUMAN	zinc finger protein 177	276					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						CTTTAGGAATTCCTCTTGCCT	0.423000													38	65					0	0	1	0	0
GCNT1	2650	broad.mit.edu	37	9	79118394	79118394	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr9:79118394G>A	ENST00000442371.1	+	3	2036	c.1097G>A	c.(1096-1098)gGt>gAt	p.G366D	GCNT1_ENST00000444201.2_Missense_Mutation_p.G366D|GCNT1_ENST00000536223.1_Missense_Mutation_p.G366D|GCNT1_ENST00000376730.4_Missense_Mutation_p.G366D	NM_001097634.1	NP_001091103.1	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	366	Catalytic (By similarity).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						GTTTCCAAGGGTGCTCCCTAC	0.547000													21	24					0	0	1	0	0
ADCY4	196883	broad.mit.edu	37	14	24798698	24798698	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr14:24798698C>T	ENST00000310677.4	-	10	1372	c.1259G>A	c.(1258-1260)gGg>gAg	p.G420E	ADCY4_ENST00000554068.2_Missense_Mutation_p.G420E|ADCY4_ENST00000418030.2_Missense_Mutation_p.G420E|ADCY4_ENST00000396747.3_Missense_Mutation_p.G113E	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	420					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		AGCATAAGCCCCTGCCAGCAG	0.612000													19	36					0	0	1	0	0
B4GALNT4	338707	broad.mit.edu	37	11	372665	372665	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr11:372665G>A	ENST00000329962.6	+	3	259	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	87						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCTGCAGCCCGAAGGTCGGGA	0.592000													4	6					0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	21995340	21995340	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr12:21995340C>T	ENST00000261200.4	-	27	3380	c.3381G>A	c.(3379-3381)atG>atA	p.M1127I	ABCC9_ENST00000261201.4_Missense_Mutation_p.M1127I|ABCC9_ENST00000345162.2_Missense_Mutation_p.M1091I|RP11-729I10.2_ENST00000539874.1_RNA	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1127	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CATAAGAAATCATCCCAATGG	0.433000													18	46					0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88962723	88962723	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr7:88962723G>A	ENST00000333190.4	+	4	1036	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	143						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GGTAGCCATAGAAAAGCAACT	0.378000										HNSCC(36;0.09)			7	19					0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103300663	103300663	+	Silent	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr2:103300663C>T	ENST00000233969.2	+	5	1435	c.1293C>T	c.(1291-1293)atC>atT	p.I431I		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	431						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						ACCAGTTCATCATTGCCTATG	0.453000													31	45					0	0	1	0	0
SLC9C1	285335	broad.mit.edu	37	3	111873889	111873889	+	Silent	SNP	A	A	G			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr3:111873889A>G	ENST00000305815.5	-	27	3624	c.3372T>C	c.(3370-3372)gtT>gtC	p.V1124V	SLC9C1_ENST00000487372.1_Silent_p.V1076V	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	1124					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										CCAATGTTCCAACTGAACCTG	0.313000													14	17					0	0	1	0	0
ACKR2	1238	broad.mit.edu	37	3	42906332	42906332	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr3:42906332G>A	ENST00000422265.1	+	3	513	c.338G>A	c.(337-339)gGg>gAg	p.G113E	ACKR2_ENST00000442925.1_Missense_Mutation_p.G113E|KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000273145.2_Missense_Mutation_p.G113E|ACKR2_ENST00000471537.1_Intron	NM_001296.4	NP_001287.2			atypical chemokine receptor 2																		TGGGTCTTCGGGAGTTTCTTG	0.478000													52	73					0	0	1	0	0
CYP24A1	1591	broad.mit.edu	37	20	52774074	52774074	+	Silent	SNP	A	A	G			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr20:52774074A>G	ENST00000216862.3	-	10	1680	c.1287T>C	c.(1285-1287)ttT>ttC	p.F429F	CYP24A1_ENST00000395955.3_Intron|CYP24A1_ENST00000395954.3_Silent_p.F287F	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	429					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	TTGAATCTTCAAAATTGTCTT	0.393000													15	32					0	0	1	0	0
LPCAT4	254531	broad.mit.edu	37	15	34651893	34651893	+	Silent	SNP	G	G	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr15:34651893G>T	ENST00000314891.6	-	13	1473	c.1296C>A	c.(1294-1296)ggC>ggA	p.G432G		NM_153613.2	NP_705841.2	Q643R3	LPCT4_HUMAN	lysophosphatidylcholine acyltransferase 4	432					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|calcium ion binding			NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						TGGTGCTGAAGCCGTCTTTGT	0.582000													10	17					0.00621372	0.00622609	1	1	0
ADAM21P1	145241	broad.mit.edu	37	14	70712532	70712532	+	RNA	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr14:70712532C>T	ENST00000530196.1	-	0	1986					NR_003951.1																						CAGATCTTTCCTGGGCCACAC	0.448000													11	20					0	0	1	0	0
SNRNP200	23020	broad.mit.edu	37	2	96950181	96950181	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr2:96950181G>A	ENST00000323853.5	-	31	4384	c.4307C>T	c.(4306-4308)tCc>tTc	p.S1436F	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1436	Helicase ATP-binding 2.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CCATCGCCGGGAAAGTATGTC	0.552000													22	33					0	0	1	0	0
PAM	5066	broad.mit.edu	37	5	102310126	102310126	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr5:102310126C>T	ENST00000438793.3	+	14	1939	c.1469C>T	c.(1468-1470)cCa>cTa	p.P490L	PAM_ENST00000346918.2_Missense_Mutation_p.P490L|PAM_ENST00000455264.2_Missense_Mutation_p.P490L|PAM_ENST00000348126.2_Intron|PAM_ENST00000304400.7_Missense_Mutation_p.P490L|PAM_ENST00000274392.9_Missense_Mutation_p.P393L|PAM_ENST00000379787.4_5'UTR	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	490	Peptidylglycine alpha-hydroxylating monooxygenase (By similarity).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	ACCTGGGAACCAGAACACACA	0.458000													20	31					0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80044361	80044361	+	Silent	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr17:80044361G>A	ENST00000306749.2	-	22	3719	c.3501C>T	c.(3499-3501)gcC>gcT	p.A1167A		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1167					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GGGGGATCTGGGCCCCATCCA	0.687000													11	21					0	0	1	0	0
TACR3	6870	broad.mit.edu	37	4	104510867	104510867	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr4:104510867G>A	ENST00000304883.2	-	5	1510	c.1370C>T	c.(1369-1371)cCc>cTc	p.P457L	RP11-297P16.3_ENST00000512401.1_RNA|RP11-297P16.3_ENST00000502936.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	457						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		AGAGGTATAGGGTGAGCTTAT	0.448000													25	52					0	0	1	0	0
HEPACAM	220296	broad.mit.edu	37	11	124794732	124794732	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr11:124794732G>C	ENST00000298251.4	-	2	724	c.319C>G	c.(319-321)Ctg>Gtg	p.L107V		NM_152722.4	NP_689935.2	Q14CZ8	HECAM_HUMAN	hepatic and glial cell adhesion molecule	107	Ig-like V-type.				cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		CTGAGAAGCAGGGAGCCATTT	0.577000													53	85					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179479390	179479390	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr2:179479390C>T	ENST00000589042.1	-	261	49075	c.48851G>A	c.(48850-48852)gGa>gAa	p.G16284E	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G7411E|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G14643E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G13716E|TTN_ENST00000359218.5_Missense_Mutation_p.G7344E|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G7219E|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14643	Fibronectin type-III 18.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCAGGTTTTCCGGTTACGGT	0.438000													5	18					0	0	1	0	0
CFHR2	3080	broad.mit.edu	37	1	196918617	196918617	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr1:196918617G>A	ENST00000367415.4	+	2	205	c.91G>A	c.(91-93)Gga>Aga	p.G31R	CFHR2_ENST00000367421.3_Missense_Mutation_p.G31R|CFHR2_ENST00000476712.1_3'UTR	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	31	Sushi 1.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						AATAAACCATGGAATTCTATA	0.294000													13	19					0	0	1	0	0
SLC12A4	6560	broad.mit.edu	37	16	67991680	67991680	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr16:67991680G>A	ENST00000422611.2	-	4	554	c.515C>T	c.(514-516)tCc>tTc	p.S172F	SLC12A4_ENST00000537830.2_Missense_Mutation_p.S164F|SLC12A4_ENST00000576616.1_Missense_Mutation_p.S170F|SLC12A4_ENST00000572010.1_5'UTR|SLC12A4_ENST00000338335.3_Missense_Mutation_p.S170F|SLC12A4_ENST00000572037.1_Missense_Mutation_p.S122F|SLC12A4_ENST00000316341.3_Missense_Mutation_p.S170F|SLC12A4_ENST00000541864.2_Missense_Mutation_p.S139F	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	170					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GGCACTCATGGAGATGGCCGT	0.647000													14	35					0	0	1	0	0
AMOTL2	51421	broad.mit.edu	37	3	134079153	134079153	+	Silent	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr3:134079153G>A	ENST00000514516.1	-	7	2030	c.1852C>T	c.(1852-1854)Ctg>Ttg	p.L618L	AMOTL2_ENST00000513145.1_Silent_p.L558L|AMOTL2_ENST00000422605.2_Silent_p.L560L|AMOTL2_ENST00000249883.5_Silent_p.L560L	NM_001278683.1	NP_001265612.1	Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	560										endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						TCCAGCGCCAGGATCTGCTCC	0.612000													10	22					0	0	1	0	0
PSG7	5676	broad.mit.edu	37	19	43439669	43439669	+	RNA	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr19:43439669G>A	ENST00000446844.3	-	0	406				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				GATCAGCAGGGATGCATTGGA	0.433000													109	185					0	0	1	0	0
P4HA3	283208	broad.mit.edu	37	11	73997285	73997285	+	Silent	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr11:73997285G>A	ENST00000331597.4	-	6	966	c.921C>T	c.(919-921)acC>acT	p.T307T	P4HA3_ENST00000427714.2_Silent_p.T307T	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha polypeptide III	307						endoplasmic reticulum lumen	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					GGGAACCCAGGGTCTGACATA	0.557000													81	102					0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107920803	107920803	+	Silent	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chrX:107920803C>T	ENST00000328300.6	+	44	4126	c.3882C>T	c.(3880-3882)ggC>ggT	p.G1294G	COL4A5_ENST00000361603.2_Silent_p.G1288G	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1288	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GAAATCCAGGCCAACCTGGGC	0.488000									Alport syndrome with Diffuse Leiomyomatosis				26	42					0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	86808051	86808051	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr15:86808051G>A	ENST00000441037.2	+	10	1606	c.1511G>A	c.(1510-1512)cGa>cAa	p.R504Q	AGBL1_ENST00000421325.2_Missense_Mutation_p.R504Q|AGBL1_ENST00000389298.3_Missense_Mutation_p.R235Q	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	504					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						ATGTTGGAACGAAAATGTGGA	0.443000													20	29					0	0	1	0	0
ZNF761	388561	broad.mit.edu	37	19	53959453	53959453	+	RNA	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr19:53959453C>T	ENST00000454407.1	+	0	2145							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		AGCAGTTAACCCTTAAACGCC	0.408000													26	38					0	0	1	0	0
RNF150	57484	broad.mit.edu	37	4	142053612	142053612	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr4:142053612C>T	ENST00000306799.3	-	1	1004	c.351G>A	c.(349-351)tgG>tgA	p.W117*	RNF150_ENST00000515673.1_Nonsense_Mutation_p.W117*|RNF150_ENST00000507500.1_Nonsense_Mutation_p.W117*|RNF150_ENST00000420921.2_Intron	NM_020724.1	NP_065775.1	Q9ULK6	RN150_HUMAN	ring finger protein 150	117	PA.					integral to membrane	zinc ion binding			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					TGAGGGCTATCCAGTTCTTGC	0.657000													8	12					0	0	1	0	0
TWF2	11344	broad.mit.edu	37	3	52263077	52263077	+	Silent	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr3:52263077G>A	ENST00000305533.5	-	9	1266	c.1023C>T	c.(1021-1023)ggC>ggT	p.G341G	TLR9_ENST00000597542.1_Intron|TWF2_ENST00000499914.2_3'UTR|TLR9_ENST00000494383.1_Intron	NM_007284.3	NP_009215.1			twinfilin actin-binding protein 2											breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;2.43e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TTTCACCCGGGCCGCGGATGA	0.667000													24	35					0	0	1	0	0
SLFN13	146857	broad.mit.edu	37	17	33772265	33772265	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr17:33772265C>T	ENST00000285013.6	-	3	710	c.435G>A	c.(433-435)atG>atA	p.M145I	SLFN13_ENST00000360502.2_Intron|SLFN13_ENST00000533791.1_Missense_Mutation_p.M145I|SLFN13_ENST00000542635.1_Missense_Mutation_p.M145I|SLFN13_ENST00000534689.1_Intron|SLFN13_ENST00000526861.1_Missense_Mutation_p.M145I	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	145						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GTCTTGAATTCATGTGAAGCA	0.403000													23	18					0	0	1	0	0
CFHR2	3080	broad.mit.edu	37	1	196928177	196928177	+	Silent	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr1:196928177G>A	ENST00000367415.4	+	5	894	c.780G>A	c.(778-780)ggG>ggA	p.G260G	CFHR2_ENST00000367421.3_Silent_p.G260G|CFHR2_ENST00000476712.1_3'UTR	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	260	Sushi 4.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						GTCAGAATGGGAAACTGGTAT	0.303000													15	26					0	0	1	0	0
TNS1	7145	broad.mit.edu	37	2	218712620	218712620	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr2:218712620G>A	ENST00000171887.4	-	17	2697	c.2245C>T	c.(2245-2247)Ctc>Ttc	p.L749F	TNS1_ENST00000419504.1_Missense_Mutation_p.L749F|TNS1_ENST00000430930.1_Missense_Mutation_p.L749F	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	749						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GATCCAGAGAGGGGCTGGGAG	0.657000													5	16					0	0	1	0	0
ESRRB	2103	broad.mit.edu	37	14	76957962	76957962	+	Silent	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr14:76957962C>T	ENST00000380887.2	+	6	1032	c.960C>T	c.(958-960)ctC>ctT	p.L320L	ESRRB_ENST00000509242.1_Silent_p.L320L|ESRRB_ENST00000261532.7_Silent_p.L320L|ESRRB_ENST00000556177.1_Silent_p.L320L			A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	320						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		TGCTGGAGCTCTACCGGGCCA	0.612000													3	10					0	0	1	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45127363	45127363	+	RNA	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr17:45127363G>A	ENST00000575173.1	-	0	418																											AGGTCAAAAAGAGTCCAAAGT	0.438000													36	72					0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	121037467	121037467	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr11:121037467G>A	ENST00000392793.1	+	18	5835	c.5564G>A	c.(5563-5565)gGg>gAg	p.G1855E	TECTA_ENST00000264037.2_Missense_Mutation_p.G1855E			O75443	TECTA_HUMAN	tectorin alpha	1855	ZP.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AACACCAAAGGGAATTGTGGA	0.493000													11	23					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189582083	189582083	+	Silent	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr3:189582083G>A	ENST00000264731.3	+	5	731	c.642G>A	c.(640-642)aaG>aaA	p.K214K	TP63_ENST00000392461.3_Silent_p.K120K|TP63_ENST00000354600.5_Silent_p.K120K|TP63_ENST00000320472.5_Silent_p.K214K|TP63_ENST00000382063.4_Silent_p.K129K|TP63_ENST00000437221.1_Silent_p.K120K|TP63_ENST00000456148.1_Silent_p.K120K|TP63_ENST00000392463.2_Silent_p.K120K|TP63_ENST00000449992.1_Silent_p.K35K|TP63_ENST00000440651.2_Silent_p.K214K|TP63_ENST00000418709.2_Silent_p.K214K|TP63_ENST00000392460.3_Silent_p.K214K	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	214					anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TCCAGATCAAGGTGATGACCC	0.532000										HNSCC(45;0.13)			49	75					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38793718	38793718	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr3:38793718C>T	ENST00000449082.2	-	11	1746	c.1747G>A	c.(1747-1749)Gat>Aat	p.D583N		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	583					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	ACCGAGACATCGACAGCTCCA	0.552000													21	27					0	0	1	0	0
CCDC142	84865	broad.mit.edu	37	2	74709479	74709479	+	Silent	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr2:74709479G>A	ENST00000393965.3	-	1	882	c.486C>T	c.(484-486)ctC>ctT	p.L162L	CCDC142_ENST00000290418.4_Silent_p.L162L|CCDC142_ENST00000471713.1_Intron	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	162										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						GCAGCGGCTCGAGAGTCTCCC	0.716000													8	13					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136548227	136548227	+	Splice_Site	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr2:136548227C>T	ENST00000264162.2	-	15	5346		c.e15+1			NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase						carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GCCCGTCGTACCTTTGAGGGC	0.527000													9	12					0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160047512	160047512	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr5:160047512C>T	ENST00000327245.5	-	15	3104	c.2258G>A	c.(2257-2259)gGc>gAc	p.G753D	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	753					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAGGCAGGTGCCCTGGGGCAG	0.612000													10	21					0	0	1	0	0
PROL1	58503	broad.mit.edu	37	4	71275436	71275436	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr4:71275436C>T	ENST00000399575.2	+	3	565	c.391C>T	c.(391-393)Ctt>Ttt	p.L131F	PROL1_ENST00000514338.1_3'UTR	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	131	Pro-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				TCCTTTTTTTCTTGCTATTTA	0.428000													38	77					0	0	1	0	0
CDADC1	81602	broad.mit.edu	37	13	49830001	49830001	+	Silent	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr13:49830001C>T	ENST00000251108.6	+	3	317	c.204C>T	c.(202-204)ccC>ccT	p.P68P	CDADC1_ENST00000538056.1_Silent_p.P68P|CDADC1_ENST00000496952.1_3'UTR|CDADC1_ENST00000444959.1_5'UTR	NM_001193478.1|NM_030911.3	NP_001180407.1|NP_112173.1	Q9BWV3	CDAC1_HUMAN	cytidine and dCMP deaminase domain containing 1	68							hydrolase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	16		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)		agcatggacccttaggagata	0.299000													16	29					0	0	1	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T	rs143713325	by1000genomes	TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr17:45128792G>T	ENST00000575173.1	-	0	418																											AATTCAGGTTGTCAGAATGCA	0.373000													3	23					0.004672	0.00469065	1	1	0
FAT3	120114	broad.mit.edu	37	11	92086673	92086673	+	Silent	SNP	A	A	G			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr11:92086673A>G	ENST00000298047.6	+	1	1412	c.1395A>G	c.(1393-1395)gcA>gcG	p.A465A	FAT3_ENST00000525166.1_Silent_p.A315A|FAT3_ENST00000541502.1_Silent_p.A465A|FAT3_ENST00000409404.2_Silent_p.A465A			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	465	Cadherin 4.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TAGAAGATGCAAATGACCACA	0.433000										TCGA Ovarian(4;0.039)			9	13					0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76782143	76782143	+	Silent	SNP	G	G	A	rs151052458	byFrequency	TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr6:76782143G>A	ENST00000369963.3	-	1	252	c.63C>T	c.(61-63)acC>acT	p.T21T	IMPG1_ENST00000369950.3_Silent_p.T21T			Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	0					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				ACTTACCTTTGGTTCCTTGAA	0.308000													3	15					0	0	1	0	0
OR10P1	121130	broad.mit.edu	37	12	56031545	56031545	+	Silent	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr12:56031545C>T	ENST00000309675.2	+	1	902	c.870C>T	c.(868-870)atC>atT	p.I290I		NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P, member 1	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						ACCCCATCATCTACACCCTTC	0.592000													19	36					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43925874	43925874	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr12:43925874G>A	ENST00000389420.3	-	3	577	c.578C>T	c.(577-579)tCt>tTt	p.S193F	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.S193F	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	193						proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CTGCAGAAAAGAGTTATTTAA	0.328000													13	20					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13729599	13729599	+	Silent	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr5:13729599C>T	ENST00000265104.4	-	69	11936	c.11832G>A	c.(11830-11832)ctG>ctA	p.L3944L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3944					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCACCAAATTCAGCCATGTTA	0.373000									Kartagener syndrome				21	27					0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23111169	23111169	+	Silent	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr1:23111169G>A	ENST00000400191.3	+	3	429	c.411G>A	c.(409-411)aaG>aaA	p.K137K	EPHB2_ENST00000374627.1_Silent_p.K131K|EPHB2_ENST00000544305.1_Silent_p.K137K|EPHB2_ENST00000374630.3_Silent_p.K137K|EPHB2_ENST00000374632.3_Silent_p.K137K	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	137					axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CATGGGTGAAGGTGGATACCA	0.567000													21	30					0	0	1	0	0
LCE2B	26239	broad.mit.edu	37	1	152659481	152659481	+	Silent	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr1:152659481C>T	ENST00000368780.3	+	2	216	c.162C>T	c.(160-162)ggC>ggT	p.G54G	LCE2B_ENST00000417924.2_Silent_p.G54G	NM_014357.4	NP_055172.1	O14633	LCE2B_HUMAN	late cornified envelope 2B	54	Cys-rich.				keratinization					endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTCTGGGGGCTGCTGTGGTC	0.647000													91	116					0	0	1	0	0
GALNT8	26290	broad.mit.edu	37	12	4848348	4848348	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr12:4848348C>T	ENST00000252318.2	+	3	866	c.529C>T	c.(529-531)Cct>Tct	p.P177S	RP11-234B24.6_ENST00000544741.2_3'UTR	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	177						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						GAAGACATATCCTTCCCAACT	0.393000													29	40					0	0	1	0	0
SUSD2	56241	broad.mit.edu	37	22	24584054	24584054	+	Silent	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr22:24584054C>T	ENST00000358321.3	+	13	2553	c.2292C>T	c.(2290-2292)acC>acT	p.T764T		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	764	Sushi.				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						AGACCAGCACCTGCCAGGCTG	0.632000													32	72					0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57188367	57188367	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr7:57188367C>T	ENST00000331162.4	-	5	1025	c.755G>A	c.(754-756)tGg>tAg	p.W252*		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	252					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			GTTTGCAGACCAGCTAAAGGC	0.428000													12	21					0	0	1	0	0
DPYSL3	1809	broad.mit.edu	37	5	146775220	146775220	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr5:146775220G>T	ENST00000343218.5	-	13	2065	c.1868C>A	c.(1867-1869)aCc>aAc	p.T623N	DPYSL3_ENST00000534907.1_Missense_Mutation_p.T135N|DPYSL3_ENST00000398514.3_Missense_Mutation_p.T509N	NM_001197294.1	NP_001184223.1	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	509					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity			breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTTTGGGGGTGGTGGTCAG	0.587000													10	13					6.40141e-05	6.45272e-05	1	1	0
PAX8	7849	broad.mit.edu	37	2	113994256	113994256	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr2:113994256C>T	ENST00000429538.3	-	8	1014	c.820G>A	c.(820-822)Ggg>Agg	p.G274R	AC016683.6_ENST00000333145.5_RNA|PAX8_ENST00000397647.3_Intron|PAX8_ENST00000348715.5_Missense_Mutation_p.G274R|AC016683.6_ENST00000445745.1_RNA|AC016683.6_ENST00000553869.2_RNA|AC016683.6_ENST00000422956.1_RNA|PAX8_ENST00000263334.5_Missense_Mutation_p.G274R|AC016683.6_ENST00000556070.1_RNA|AC016683.6_ENST00000451179.1_RNA|PAX8_ENST00000263335.7_Intron|AC016683.6_ENST00000437551.1_RNA|AC016683.6_ENST00000456685.1_RNA|AC016683.6_ENST00000436293.2_RNA	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	274					branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						GTGGCCTTCCCGTCGTCCAGG	0.642000			T	PPARG	follicular thyroid		Thyroid dysgenesis						4	6					0	0	1	0	0
BRD4	23476	broad.mit.edu	37	19	15375507	15375507	+	Missense_Mutation	SNP	G	G	A	rs149454272		TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr19:15375507G>A	ENST00000263377.2	-	6	1141	c.920C>T	c.(919-921)cCc>cTc	p.P307L	BRD4_ENST00000371835.4_Missense_Mutation_p.P307L|BRD4_ENST00000360016.5_Missense_Mutation_p.P307L	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	307					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GGGCAGCGAGGGTGGCTCGTG	0.627000			T	C15orf55	lethal midline carcinoma of young people						OREG0025319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	81					0	0	1	0	0
SETD1A	9739	broad.mit.edu	37	16	30978284	30978284	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr16:30978284C>T	ENST00000262519.8	+	9	3271	c.2585C>T	c.(2584-2586)tCc>tTc	p.S862F		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	862					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						GGCCTGCTGTCCCTCGTGGAC	0.627000													4	6					0	0	1	0	0
OR10K1	391109	broad.mit.edu	37	1	158435393	158435393	+	Silent	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr1:158435393C>T	ENST00000289451.2	+	1	122	c.42C>T	c.(40-42)gtC>gtT	p.V14V		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					AGTTCGTCGTCCTCGGCTTCT	0.507000													16	16					0	0	1	0	0
POLRMT	5442	broad.mit.edu	37	19	629923	629923	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr19:629923G>A	ENST00000588649.2	-	3	523	c.439C>T	c.(439-441)Cca>Tca	p.P147S		NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	147					transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding	p.P147T(1)		cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCTGGAATGGCATCTGCAGC	0.652000													13	16					0	0	1	0	0
DMRT3	58524	broad.mit.edu	37	9	990888	990888	+	Silent	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr9:990888G>A	ENST00000190165.2	+	2	1340	c.1302G>A	c.(1300-1302)cgG>cgA	p.R434R		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	434					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		AAGACCCTCGGATTTCCATCC	0.542000													24	39					0	0	1	0	0
ATG9B	285973	broad.mit.edu	37	7	150721110	150721110	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr7:150721110G>A	ENST00000605938.1	-	1	476	c.401C>T	c.(400-402)cCc>cTc	p.P134L	ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000377974.2_Missense_Mutation_p.P134L|ATG9B_ENST00000605952.1_Missense_Mutation_p.P134L|ATG9B_ENST00000444312.1_5'UTR	NM_173681.5	NP_775952.4	Q674R7	ATG9B_HUMAN	autophagy related 9B	134	Pro-rich.				autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGAGTCCTGGGGGCACTGCTG	0.642000													3	4					0	0	1	0	0
RNF128	79589	broad.mit.edu	37	X	106016299	106016299	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chrX:106016299C>T	ENST00000255499.2	+	2	891	c.641C>T	c.(640-642)tCc>tTc	p.S214F	RNF128_ENST00000324342.3_Missense_Mutation_p.S188F	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	214				S -> P (in Ref. 1; AAK77554).		endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						GTTTCTGTGTCCTTTTTTATT	0.393000													22	56					0	0	1	0	0
CPS1	1373	broad.mit.edu	37	2	211515115	211515115	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr2:211515115G>A	ENST00000233072.5	+	28	3629	c.3433G>A	c.(3433-3435)Gag>Aag	p.E1145K	CPS1_ENST00000451903.2_Missense_Mutation_p.E694K|CPS1_ENST00000430249.2_Missense_Mutation_p.E1151K	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1145	ATP-grasp 2.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GGTATTCTCTGAGGATGAGAT	0.393000													21	31					0	0	1	0	0
KDM5B	10765	broad.mit.edu	37	1	202710610	202710610	+	Silent	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr1:202710610G>A	ENST00000367265.3	-	19	3994	c.2830C>T	c.(2830-2832)Cta>Tta	p.L944L	KDM5B_ENST00000367264.2_Silent_p.L980L	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	944					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CCTACCCCTAGGTCTATGAGA	0.552000													12	22					0	0	1	0	0
PSD4	23550	broad.mit.edu	37	2	113955327	113955327	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr2:113955327G>A	ENST00000245796.6	+	14	2656	c.2461G>A	c.(2461-2463)Gga>Aga	p.G821R	PSD4_ENST00000441564.2_Splice_Site_p.G792_splice	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	821	PH.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTGGTAGCAGGGAGAAGACCA	0.617000													19	20					0	0	1	0	0
TTC21A	199223	broad.mit.edu	37	3	39171776	39171776	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr3:39171776G>A	ENST00000301819.6	+	17	2447	c.2270G>A	c.(2269-2271)aGa>aAa	p.R757K	TTC21A_ENST00000431162.2_Missense_Mutation_p.R756K|TTC21A_ENST00000440121.1_Missense_Mutation_p.R708K	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	756							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GAGGCCTATAGACAGAACCCA	0.587000													9	8					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3228050	3228050	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chrX:3228050G>A	ENST00000217939.6	-	7	8348	c.8194C>T	c.(8194-8196)Cct>Tct	p.P2732S		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2732						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				ATCCGGGGAGGATAGGCGATC	0.592000													18	24					0	0	1	0	0
C16orf59	80178	broad.mit.edu	37	16	2511174	2511174	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr16:2511174C>T	ENST00000569496.1	+	4	613	c.554C>T	c.(553-555)gCc>gTc	p.A185V	C16orf59_ENST00000483320.1_Missense_Mutation_p.A18V|C16orf59_ENST00000361837.4_Missense_Mutation_p.A185V|C16orf59_ENST00000563531.1_Missense_Mutation_p.A185V			Q7L2K0	CP059_HUMAN	chromosome 16 open reading frame 59	185										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				CAGCAAATGGCCCCATCCGCT	0.662000													7	9					0	0	1	0	0
TSHZ1	10194	broad.mit.edu	37	18	73000094	73000094	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr18:73000094C>T	ENST00000322038.5	+	2	3181	c.2597C>T	c.(2596-2598)aCc>aTc	p.T866I	TSHZ1_ENST00000580243.1_Missense_Mutation_p.T911I	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	911						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		TTGCGGGAGACCACAGAGGGC	0.612000													9	15					0	0	1	0	0
SPAG5	10615	broad.mit.edu	37	17	26918842	26918842	+	Silent	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr17:26918842G>A	ENST00000321765.5	-	4	1643	c.1311C>T	c.(1309-1311)aaC>aaT	p.N437N		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	437					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					AGCTCAGCAGGTTATCTTCCA	0.547000													15	28					0	0	1	0	0
OR2M5	127059	broad.mit.edu	37	1	248308599	248308599	+	Silent	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr1:248308599C>T	ENST00000366476.1	+	1	150	c.150C>T	c.(148-150)taC>taT	p.Y50Y		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TCCTCATCTACCTGGACACCC	0.527000													71	145					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133541577	133541577	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr2:133541577G>A	ENST00000409261.1	-	14	3180	c.2807C>T	c.(2806-2808)tCc>tTc	p.S936F	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.S936F	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	936							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CAGGGAGACGGACCTGCCTGG	0.622000													10	12					0	0	1	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	17964446	17964446	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr1:17964446C>T	ENST00000361221.3	+	19	2150	c.1991C>T	c.(1990-1992)gCc>gTc	p.A664V	ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.A437V|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.A659V|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.A625V|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.A625V|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.A422V|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.A367V	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	664					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		AAGGACCTGGCCGTGGTGGAG	0.622000													3	4					0	0	1	0	0
CEP170B	283638	broad.mit.edu	37	14	105349666	105349666	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr14:105349666C>T	ENST00000453495.1	+	8	1103	c.875C>T	c.(874-876)tCc>tTc	p.S292F	CEP170B_ENST00000556508.1_Missense_Mutation_p.S221F|CEP170B_ENST00000414716.3_Missense_Mutation_p.S291F|CEP170B_ENST00000418279.1_Missense_Mutation_p.S221F					centrosomal protein 170B																		ACCAAGTTTTCCCTGCGCCAG	0.632000													5	11					0	0	1	0	0
ZNF76	7629	broad.mit.edu	37	6	35255471	35255471	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr6:35255471C>T	ENST00000373953.3	+	5	547	c.281C>T	c.(280-282)tCc>tTc	p.S94F	ZNF76_ENST00000339411.5_Missense_Mutation_p.S94F|ZNF76_ENST00000440666.2_Missense_Mutation_p.S68F	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	94	3 X 12 AA approximate repeats.				regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						GAAGATGGCTCCACTGCCTAC	0.592000													25	44					0	0	1	0	0
OR2Z1	284383	broad.mit.edu	37	19	8842237	8842237	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr19:8842237C>T	ENST00000324060.2	+	1	922	c.847C>T	c.(847-849)Cct>Tct	p.P283S		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCTTGTCACCCCTACACTCAA	0.522000													14	49					0	0	1	0	0
TOPORS	10210	broad.mit.edu	37	9	32541774	32541774	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr9:32541774C>T	ENST00000360538.2	-	3	2865	c.2749G>A	c.(2749-2751)Gat>Aat	p.D917N	TOPORS_ENST00000379858.1_Missense_Mutation_p.D852N	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	917	Interaction with UBE2I.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		ACTTCAGAATCCTTATCACTG	0.378000													43	62					0	0	1	0	0
FAM83F	113828	broad.mit.edu	37	22	40417437	40417437	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr22:40417437G>A	ENST00000333407.5	+	4	1017	c.923G>A	c.(922-924)gGc>gAc	p.G308D	FAM83F_ENST00000473717.1_3'UTR	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F	308										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						AGCCTGGCGGGCAGGGTTGGC	0.612000													42	81					0	0	1	0	0
OTUD7B	56957	broad.mit.edu	37	1	149916177	149916177	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr1:149916177C>G	ENST00000369135.3	-	12	2405	c.2111G>C	c.(2110-2112)gGc>gCc	p.G704A		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU domain containing 7B	704					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			GTGGACTCCGCCCCCAGACGG	0.652000													22	27					0	0	1	0	0
HNF4G	3174	broad.mit.edu	37	8	76459901	76459901	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr8:76459901G>A	ENST00000396423.2	+	3	461	c.337G>A	c.(337-339)Gga>Aga	p.G113R	HNF4G_ENST00000354370.1_Missense_Mutation_p.G76R	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	76					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			TTTTAGAGCGGGAATGAAAAA	0.289000													11	29					0	0	1	0	0
SLC16A14	151473	broad.mit.edu	37	2	230910935	230910935	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr2:230910935C>A	ENST00000295190.4	-	4	1365	c.907G>T	c.(907-909)Ggc>Tgc	p.G303C		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	303						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		CCAAAGTAGCCCGAATACCAG	0.493000													16	24					1.3612e-06	1.38041e-06	1	1	0
SNCAIP	9627	broad.mit.edu	37	5	121786837	121786837	+	Silent	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr5:121786837C>T	ENST00000261367.7	+	12	3864	c.2436C>T	c.(2434-2436)ggC>ggT	p.G812G	CTC-210G5.1_ENST00000509993.1_RNA|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000542191.1_Silent_p.G323G|SNCAIP_ENST00000379536.2_Silent_p.G705G|SNCAIP_ENST00000379538.3_Silent_p.G399G|SNCAIP_ENST00000379533.2_Silent_p.G812G|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000503116.2_3'UTR|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000504884.2_3'UTR|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000261368.8_Silent_p.G765G|SNCAIP_ENST00000414317.2_Silent_p.G367G			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	765					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		AGTATCCAGGCTCAGGGAGTA	0.572000													9	14					0	0	1	0	0
BBS7	55212	broad.mit.edu	37	4	122770018	122770018	+	Silent	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr4:122770018G>A	ENST00000264499.4	-	9	1098	c.915C>T	c.(913-915)atC>atT	p.I305I	BBS7_ENST00000506636.1_Silent_p.I305I	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	305					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding	p.I305I(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TGGACACCACGATTTCATCAT	0.328000									Bardet-Biedl syndrome				26	40					0	0	1	0	0
CATSPERD	257062	broad.mit.edu	37	19	5729925	5729925	+	Silent	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr19:5729925C>T	ENST00000381624.3	+	4	307	c.246C>T	c.(244-246)ctC>ctT	p.L82L	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	82						integral to membrane											AGACTAGTCTCCTTCCATTTA	0.318000													32	33					0	0	1	0	0
PLA2G4F	255189	broad.mit.edu	37	15	42446373	42446373	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr15:42446373C>T	ENST00000397272.3	-	4	458	c.367G>A	c.(367-369)Gac>Aac	p.D123N	PLA2G4F_ENST00000382396.4_Missense_Mutation_p.D123N	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	123	C2.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		GAGAGCTGGTCGCTGCCCAGG	0.587000													19	31					0	0	1	0	0
GCAT	23464	broad.mit.edu	37	22	38206012	38206012	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr22:38206012C>T	ENST00000323205.6	+	2	316	c.253C>T	c.(253-255)Cat>Tat	p.H85Y	GCAT_ENST00000415371.1_Intron|GCAT_ENST00000248924.6_Intron	NM_001171690.1	NP_001165161.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	66					biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CTGCTGTATCCATCTCCTCTC	0.567000													5	8					0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54905837	54905837	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr12:54905837G>A	ENST00000293373.6	+	9	968	c.889G>A	c.(889-891)Gat>Aat	p.D297N	NCKAP1L_ENST00000552211.1_3'UTR|NCKAP1L_ENST00000545638.2_Missense_Mutation_p.D247N	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	297					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TATCCGTGAGGATGTGCTGCA	0.502000													18	32					0	0	1	0	0
NIPBL	25836	broad.mit.edu	37	5	36985459	36985459	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr5:36985459A>T	ENST00000282516.8	+	10	2676	c.2177A>T	c.(2176-2178)aAa>aTa	p.K726I	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.K726I	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	726					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GAAACCCCAAAACAGAAGGGT	0.468000													13	32					0	0	1	0	0
GCNT1	2650	broad.mit.edu	37	9	79118393	79118393	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr9:79118393G>A	ENST00000442371.1	+	3	2035	c.1096G>A	c.(1096-1098)Ggt>Agt	p.G366S	GCNT1_ENST00000444201.2_Missense_Mutation_p.G366S|GCNT1_ENST00000536223.1_Missense_Mutation_p.G366S|GCNT1_ENST00000376730.4_Missense_Mutation_p.G366S	NM_001097634.1	NP_001091103.1	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	366	Catalytic (By similarity).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						TGTTTCCAAGGGTGCTCCCTA	0.547000													21	25					0	0	1	0	0
WDR35	57539	broad.mit.edu	37	2	20153665	20153665	+	Missense_Mutation	SNP	G	G	A	rs148510977		TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr2:20153665G>A	ENST00000345530.3	-	13	1478	c.1363C>T	c.(1363-1365)Cgt>Tgt	p.R455C	WDR35_ENST00000416055.2_Missense_Mutation_p.R20C|WDR35_ENST00000281405.4_Missense_Mutation_p.R444C	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	455										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTGCCACACGATATTGCCAG	0.358000													33	43					0	0	1	0	0
CC2D1A	54862	broad.mit.edu	37	19	14024394	14024394	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr19:14024394C>T	ENST00000318003.7	+	6	932	c.691C>T	c.(691-693)Cct>Tct	p.P231S	CC2D1A_ENST00000589606.1_Missense_Mutation_p.P231S	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	231	Pro-rich.				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			CCTGGAGGGACCTTCTGCCAC	0.677000													9	24					0	0	1	0	0
PROM2	150696	broad.mit.edu	37	2	95940496	95940496	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr2:95940496C>T	ENST00000317620.9	+	1	296	c.163C>T	c.(163-165)Cgt>Tgt	p.R55C	PROM2_ENST00000403131.2_Missense_Mutation_p.R55C|PROM2_ENST00000463580.1_3'UTR|PROM2_ENST00000317668.4_Missense_Mutation_p.R55C|PROM2_ENST00000542147.1_Missense_Mutation_p.R55C	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	55						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						CCCTCGAGTTCGTGCGCCAGG	0.662000													45	86					0	0	1	0	0
BIRC8	112401	broad.mit.edu	37	19	53793264	53793264	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr19:53793264C>T	ENST00000426466.1	-	1	1611	c.364G>A	c.(364-366)Gga>Aga	p.G122R		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	122					apoptosis		zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		AAATCAAATCCCATTCGTATA	0.388000													35	78					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216538295	216538295	+	Splice_Site	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr1:216538295C>T	ENST00000366943.2	-	4	1170	c.784_splice	c.e4+1	p.G262_splice	USH2A_ENST00000366942.3_Splice_Site_p.G262_splice|USH2A_ENST00000307340.3_Splice_Site_p.G262_splice			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	262					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGAAACTTACCATTTAAACTC	0.313000										HNSCC(13;0.011)			12	22					0	0	1	0	0
ADCY4	196883	broad.mit.edu	37	14	24798697	24798697	+	Silent	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr14:24798697C>T	ENST00000310677.4	-	10	1373	c.1260G>A	c.(1258-1260)ggG>ggA	p.G420G	ADCY4_ENST00000554068.2_Silent_p.G420G|ADCY4_ENST00000418030.2_Silent_p.G420G|ADCY4_ENST00000396747.3_Silent_p.G113G	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	420					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CAGCATAAGCCCCTGCCAGCA	0.612000													19	35					0	0	1	0	0
ANKAR	150709	broad.mit.edu	37	2	190557878	190557878	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr2:190557878C>T	ENST00000520309.1	+	5	1370	c.1282C>T	c.(1282-1284)Cca>Tca	p.P428S	ANKAR_ENST00000281412.6_Missense_Mutation_p.P192S|ANKAR_ENST00000431575.2_Missense_Mutation_p.P357S|ANKAR_ENST00000438402.2_Missense_Mutation_p.P428S|ANKAR_ENST00000461516.1_Intron|ANKAR_ENST00000313581.4_Missense_Mutation_p.P428S	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	428						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			TTACTCAATACCAGTCATGGA	0.284000													4	23					0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50294351	50294351	+	Splice_Site	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr15:50294351C>T	ENST00000284509.6	-	8	646	c.506_splice	c.e8+1	p.G169_splice	ATP8B4_ENST00000558959.1_5'UTR|ATP8B4_ENST00000559829.1_Splice_Site_p.G169_splice	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	169					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		ATAACTTACCCATCAAGCTCA	0.303000													3	11					0	0	1	0	0
MS4A1	931	broad.mit.edu	37	11	60230563	60230563	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr11:60230563C>A	ENST00000534668.1	+	3	537	c.248C>A	c.(247-249)aCt>aAt	p.T83N	MS4A1_ENST00000528313.1_Intron|MS4A1_ENST00000532073.1_Missense_Mutation_p.T83N|MS4A1_ENST00000345732.4_Missense_Mutation_p.T83N|MS4A1_ENST00000534503.1_3'UTR|MS4A1_ENST00000389939.2_Missense_Mutation_p.T83N	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	83					B cell activation|immune response	integral to plasma membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	ATCTGTGTGACTGTGTGGTAC	0.498000													25	60					1.42536e-11	1.46317e-11	1	1	0
DIP2A	23181	broad.mit.edu	37	21	47954546	47954546	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr21:47954546G>A	ENST00000318711.7	+	13	1774	c.1591G>A	c.(1591-1593)Gca>Aca	p.A531T	DIP2A_ENST00000457905.3_Missense_Mutation_p.A530T|DIP2A_ENST00000466639.1_Missense_Mutation_p.A487T|DIP2A_ENST00000435722.3_Missense_Mutation_p.A530T|DIP2A_ENST00000400274.1_Missense_Mutation_p.A526T|DIP2A_ENST00000427143.2_Missense_Mutation_p.A466T|DIP2A_ENST00000417564.2_Missense_Mutation_p.A530T	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	530					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		AGTGTCCCACGCATCCCTGCT	0.562000													5	15					0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1259380	1259380	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr16:1259380G>A	ENST00000348261.5	+	17	3960	c.3712G>A	c.(3712-3714)Gat>Aat	p.D1238N	CACNA1H_ENST00000358590.4_Missense_Mutation_p.D1238N|CACNA1H_ENST00000565831.1_Missense_Mutation_p.D1238N	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1238					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CCACCGTGAGGATGCAGCCGA	0.701000													14	38					0	0	1	0	0
EYS	346007	broad.mit.edu	37	6	66205081	66205081	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr6:66205081G>A	ENST00000503581.1	-	4	760	c.223C>T	c.(223-225)Ccc>Tcc	p.P75S	EYS_ENST00000370616.2_Missense_Mutation_p.P75S|EYS_ENST00000342421.5_Missense_Mutation_p.P75S|EYS_ENST00000370621.3_Missense_Mutation_p.P75S|EYS_ENST00000393380.2_Missense_Mutation_p.P75S|EYS_ENST00000370618.3_Missense_Mutation_p.P75S	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	75					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CAAATCTGGGGAACAGCTTGA	0.353000													29	27					0	0	1	0	0
LRRC45	201255	broad.mit.edu	37	17	79988658	79988658	+	Silent	SNP	A	A	C			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr17:79988658A>C	ENST00000306688.3	+	17	2332	c.1990A>C	c.(1990-1992)Agg>Cgg	p.R664R		NM_144999.2	NP_659436.1	Q96CN5	LRC45_HUMAN	leucine rich repeat containing 45	664						centrosome				lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GTCCCCCGTGAGGACCCTGAG	0.721000													6	3					0	0	1	0	0
CCNJL	79616	broad.mit.edu	37	5	159682595	159682595	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr5:159682595G>A	ENST00000393977.3	-	6	1133	c.848C>T	c.(847-849)tCc>tTc	p.S283F	CCNJL_ENST00000377503.2_5'UTR|CCNJL_ENST00000519673.1_Missense_Mutation_p.S235F|CCNJL_ENST00000541762.1_Missense_Mutation_p.S234F|CCNJL_ENST00000257536.7_Missense_Mutation_p.S235F	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	cyclin J-like	283						nucleus				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTGCTCCAGGGAATAGCTTGA	0.542000													42	76					0	0	1	0	0
BOC	91653	broad.mit.edu	37	3	112969628	112969628	+	Silent	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr3:112969628C>T	ENST00000495514.1	+	4	1028	c.324C>T	c.(322-324)gcC>gcT	p.A108A	BOC_ENST00000273395.4_Silent_p.A108A|BOC_ENST00000485230.1_Silent_p.A108A|BOC_ENST00000484034.1_Silent_p.A108A|BOC_ENST00000355385.3_Silent_p.A108A			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	108	Ig-like C2-type 1.				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			AGTGTGTGGCCCGGATGCCTG	0.622000													15	31					0	0	1	0	0
HDGFL1	154150	broad.mit.edu	37	6	22570045	22570045	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr6:22570045G>A	ENST00000510882.2	+	1	251	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K	HDGFL1_ENST00000230012.3_Missense_Mutation_p.E81K			Q5TGJ6	HDGL1_HUMAN	hepatoma derived growth factor-like 1	81										kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					GGGGCTGTGGGAAATCGAGAA	0.652000													6	10					0	0	1	0	0
SLC16A14	151473	broad.mit.edu	37	2	230911188	230911188	+	Silent	SNP	T	T	C			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr2:230911188T>C	ENST00000295190.4	-	4	1112	c.654A>G	c.(652-654)ccA>ccG	p.P218P		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	218						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		CTGGGTCGTTTGGGTTTTTAC	0.542000													27	49					0	0	1	0	0
BAD	572	broad.mit.edu	37	11	64037539	64037539	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr11:64037539G>A	ENST00000544785.1	-	2	458	c.458C>T	c.(457-459)cCc>cTc	p.P153L	BAD_ENST00000309032.3_3'UTR|BAD_ENST00000394532.3_3'UTR			Q92934	BAD_HUMAN	BCL2-associated agonist of cell death	0					activation of pro-apoptotic gene products|ADP metabolic process|ATP metabolic process|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to nicotine|glucose homeostasis|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|pore complex assembly|positive regulation of epithelial cell proliferation|positive regulation of glucokinase activity|positive regulation of insulin secretion|positive regulation of mitochondrial membrane potential|positive regulation of type B pancreatic cell development|regulation of mitochondrial membrane permeability|type B pancreatic cell proliferation	cytosol|mitochondrial outer membrane	caspase activator activity|phospholipid binding|protein kinase binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4						GCACCGGAAGGGAATCTGGGT	0.607000													2	1					0	0	1	0	0
TRIM59	286827	broad.mit.edu	37	3	160155970	160155970	+	Silent	SNP	T	T	C			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr3:160155970T>C	ENST00000309784.4	-	3	1187	c.1002A>G	c.(1000-1002)gtA>gtG	p.V334V	RP11-432B6.3_ENST00000483754.1_Intron|TRIM59_ENST00000543469.1_Intron	NM_173084.2	NP_775107.1	Q8IWR1	TRI59_HUMAN	tripartite motif containing 59	334						integral to membrane|intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TTAATGTAACTACAACAATGT	0.303000													15	24					0	0	1	0	0
SERPINB7	8710	broad.mit.edu	37	18	61471527	61471527	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr18:61471527G>A	ENST00000398019.2	+	8	1126	c.801G>A	c.(799-801)atG>atA	p.M267I	SERPINB7_ENST00000336429.2_Missense_Mutation_p.M267I|SERPINB7_ENST00000546027.1_Missense_Mutation_p.M267I|SERPINB7_ENST00000540675.1_Missense_Mutation_p.M250I	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	267					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				CAAGGCGAATGACCTCTAAGT	0.333000													18	23					0	0	1	0	0
RPL21	6144	broad.mit.edu	37	13	27829489	27829489	+	Silent	SNP	T	T	C			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr13:27829489T>C	ENST00000311549.6	+	4	529	c.240T>C	c.(238-240)gtT>gtC	p.V80V	RPL21_ENST00000272274.4_Silent_p.V80V|RPL21_ENST00000326092.4_Silent_p.V80V|RPL21_ENST00000319826.4_Silent_p.V80V	NM_000982.3	NP_000973.2	P46778	RL21_HUMAN	ribosomal protein L21	80					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome			large_intestine(1)|lung(1)	2		Lung SC(185;0.0156)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0287)|OV - Ovarian serous cystadenocarcinoma(117;0.118)|Epithelial(112;0.139)|GBM - Glioblastoma multiforme(144;0.21)		ACAAACAAGTTAAGTAAGTAG	0.403000													37	40					0	0	1	0	0
PVRIG	79037	broad.mit.edu	37	7	99818389	99818389	+	Silent	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr7:99818389C>T	ENST00000317271.2	+	5	966	c.603C>T	c.(601-603)gcC>gcT	p.A201A	GATS_ENST00000436886.2_Intron|GATS_ENST00000543273.1_RNA	NM_024070.3	NP_076975.2	Q6DKI7	PVRIG_HUMAN	poliovirus receptor related immunoglobulin domain containing	201						integral to membrane				breast(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)	11	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCAGCCCTGCCCCTAGGCTCC	0.672000													18	31					0	0	1	0	0
OR51A7	119687	broad.mit.edu	37	11	4928960	4928960	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr11:4928960G>A	ENST00000359350.4	+	1	361	c.361G>A	c.(361-363)Gac>Aac	p.D121N	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TATGTCTTTGGACCGCTTTCT	0.403000													27	41					0	0	1	0	0
PCDHA1	56147	broad.mit.edu	37	5	140167369	140167369	+	Silent	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr5:140167369G>A	ENST00000504120.2	+	1	1494	c.1494G>A	c.(1492-1494)cgG>cgA	p.R498R	PCDHA1_ENST00000394633.3_Silent_p.R498R|PCDHA1_ENST00000378133.3_Silent_p.R498R	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAACGGCGGGTGGGCGAGC	0.677000													33	50					0	0	1	0	0
STAC	6769	broad.mit.edu	37	3	36485125	36485125	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr3:36485125G>A	ENST00000273183.3	+	2	681	c.381G>A	c.(379-381)atG>atA	p.M127I	STAC_ENST00000476388.1_3'UTR|STAC_ENST00000457375.2_Missense_Mutation_p.M127I	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	127					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						GCAACCACATGATAGTGGGTA	0.572000													47	50					0	0	1	0	0
FAM83F	113828	broad.mit.edu	37	22	40417436	40417436	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr22:40417436G>A	ENST00000333407.5	+	4	1016	c.922G>A	c.(922-924)Ggc>Agc	p.G308S	FAM83F_ENST00000473717.1_3'UTR	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F	308										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						GAGCCTGGCGGGCAGGGTTGG	0.612000													41	83					0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35871202	35871202	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr5:35871202G>A	ENST00000303115.3	+	4	553	c.424G>A	c.(424-426)Gga>Aga	p.G142R	IL7R_ENST00000506850.1_Missense_Mutation_p.G142R|IL7R_ENST00000343305.4_Missense_Mutation_p.G142R	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	142	Fibronectin type-III.				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			CTATCGGGAAGGAGCCAATGA	0.383000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						16	20					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141110552	141110552	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr2:141110552G>A	ENST00000389484.3	-	76	12591	c.11620C>T	c.(11620-11622)Caa>Taa	p.Q3874*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3874	EGF-like 9.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTTCTTTCTTGAAAATTCTGG	0.313000										TSP Lung(27;0.18)			26	33					0	0	1	0	0
FKRP	79147	broad.mit.edu	37	19	47259861	47259861	+	Missense_Mutation	SNP	C	C	T	rs104894680	byFrequency	TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr19:47259861C>T	ENST00000318584.5	+	4	1451	c.1154C>T	c.(1153-1155)tCg>tTg	p.S385L	FKRP_ENST00000391909.3_Missense_Mutation_p.S385L|FKRP_ENST00000600646.1_Intron	NM_001039885.2|NM_024301.4	NP_001034974.1|NP_077277.1	Q9H9S5	FKRP_HUMAN	fukutin related protein	385						extracellular space|Golgi apparatus|rough endoplasmic reticulum|sarcolemma	transferase activity			NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)		GAGGCCGGCTCGGTGGTGGAT	0.642000													6	11					0	0	1	0	0
PPP2R2A	5520	broad.mit.edu	37	8	26227663	26227663	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr8:26227663G>A	ENST00000380737.3	+	10	1407	c.1078G>A	c.(1078-1080)Gga>Aga	p.G360R	PPP2R2A_ENST00000315985.7_Missense_Mutation_p.G370R	NM_002717.3	NP_002708.1			protein phosphatase 2, regulatory subunit B, alpha											kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		TGTCATGACTGGATCTTACAA	0.373000													9	4					0	0	1	0	0
OR5D13	390142	broad.mit.edu	37	11	55541690	55541690	+	Silent	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr11:55541690C>T	ENST00000361760.1	+	1	777	c.777C>T	c.(775-777)ttC>ttT	p.F259F		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				CTATCCTTTTCCTTTACTGTG	0.453000													19	30					0	0	1	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27999382	27999382	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chrX:27999382C>T	ENST00000441525.1	-	1	184	c.70G>A	c.(70-72)Gag>Aag	p.E24K		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	24										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						GACTGCTCCTCTGGGCTGCTG	0.567000													11	31					0	0	1	0	0
FANCI	55215	broad.mit.edu	37	15	89843040	89843040	+	Silent	SNP	A	A	G			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr15:89843040A>G	ENST00000310775.7	+	25	2732	c.2646A>G	c.(2644-2646)ctA>ctG	p.L882L	FANCI_ENST00000300027.8_Silent_p.L822L	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	882					cell cycle|DNA repair	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					GAGTCTTGCTATGGAGATACA	0.393000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				13	19					0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174830	150174830	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr7:150174830G>A	ENST00000307271.3	+	5	2534	c.1960G>A	c.(1960-1962)Gaa>Aaa	p.E654K		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	654						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GTCCCAAGCCGAAAAACTCCT	0.463000													20	47					0	0	1	0	0
FRMPD3	84443	broad.mit.edu	37	X	106806386	106806386	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chrX:106806386G>A	ENST00000276185.4	+	12	1171	c.1171G>A	c.(1171-1173)Gaa>Aaa	p.E391K				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	391	FERM.					cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						AATTCTGAATGAACTTCCTAC	0.522000													11	36					0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558879	140558879	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr5:140558879A>T	ENST00000239444.2	+	1	1509	c.1264A>T	c.(1264-1266)Atc>Ttc	p.I422F		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		422	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAACGTCACTATCACCGTCAC	0.517000													29	406					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126411434	126411434	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr4:126411434G>A	ENST00000394329.3	+	17	13470	c.13457G>A	c.(13456-13458)gGg>gAg	p.G4486E	FAT4_ENST00000335110.5_Missense_Mutation_p.G2727E	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4486					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						AGTCCTGCGGGGCATGTCTGT	0.617000													36	44					0	0	1	0	0
USP26	83844	broad.mit.edu	37	X	132160569	132160569	+	Silent	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chrX:132160569G>A	ENST00000511190.1	-	6	2149	c.1680C>T	c.(1678-1680)ccC>ccT	p.P560P	USP26_ENST00000406273.1_Silent_p.P560P|USP26_ENST00000370832.1_Silent_p.P560P	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	560					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					CCTCACTCAAGGGAAGAGGTG	0.373000													26	50					0	0	1	0	0
LILRA6	79168	broad.mit.edu	37	19	54745716	54745716	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr19:54745716G>A	ENST00000440558.2	-	4	442	c.394C>T	c.(394-396)Cct>Tct	p.P132S	LILRA6_ENST00000391735.3_Missense_Mutation_p.P132S|LILRA6_ENST00000270464.5_Missense_Mutation_p.P132S|LILRA6_ENST00000419410.2_Missense_Mutation_p.P132S|LILRA6_ENST00000245621.5_Missense_Mutation_p.P132S|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000396365.2_Missense_Mutation_p.P132S					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6											central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GCCACCACAGGGCTGGGCAGG	0.567000													21	68					0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103323714	103323714	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr8:103323714A>T	ENST00000520539.1	-	20	3035	c.2429T>A	c.(2428-2430)aTt>aAt	p.I810N	UBR5_ENST00000220959.4_Missense_Mutation_p.I810N|UBR5_ENST00000521922.1_Missense_Mutation_p.I804N	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	810					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TCGAAGAATAATGGGAGATTC	0.358000													17	28					0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210557364	210557364	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr2:210557364C>T	ENST00000360351.4	+	7	976	c.470C>T	c.(469-471)tCg>tTg	p.S157L	MAP2_ENST00000447185.1_Missense_Mutation_p.S153L|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	157					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	CTTACAGCCTCGAAGATGGAG	0.388000													25	31					0	0	1	0	0
SLC6A2	6530	broad.mit.edu	37	16	55719076	55719076	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr16:55719076C>G	ENST00000379906.2	+	4	921	c.666C>G	c.(664-666)caC>caG	p.H222Q	SLC6A2_ENST00000568943.1_Missense_Mutation_p.H222Q|SLC6A2_ENST00000566163.1_Missense_Mutation_p.H222Q|SLC6A2_ENST00000567238.1_Missense_Mutation_p.H117Q|SLC6A2_ENST00000414754.3_Missense_Mutation_p.H222Q|SLC6A2_ENST00000219833.8_Missense_Mutation_p.H222Q|SLC6A2_ENST00000561820.1_Missense_Mutation_p.H222Q	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	222					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TGCACCTTCACGAGAGCAGCG	0.602000													14	23					0	0	1	0	0
FAM109A	144717	broad.mit.edu	37	12	111801085	111801085	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr12:111801085G>A	ENST00000450786.2	-	2	250	c.89C>T	c.(88-90)tCg>tTg	p.S30L	FAM109A_ENST00000361483.3_Silent_p.F62F|FAM109A_ENST00000548163.1_Silent_p.F49F|FAM109A_ENST00000392658.5_Silent_p.F49F|FAM109A_ENST00000547838.2_Silent_p.F49F			Q8N4B1	SESQ1_HUMAN	family with sequence similarity 109, member A	0	PH.				endosome organization|receptor recycling|retrograde transport, endosome to Golgi	clathrin-coated vesicle|early endosome|recycling endosome|trans-Golgi network	protein homodimerization activity			breast(1)|endometrium(1)|lung(1)|ovary(1)	4						CAGCGTCCTCGAAGTAGAAGA	0.667000													11	23					0	0	1	0	0
ZC3HAV1L	92092	broad.mit.edu	37	7	138719370	138719370	+	Silent	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr7:138719370C>T	ENST00000275766.1	-	2	431	c.420G>A	c.(418-420)ctG>ctA	p.L140L		NM_080660.3	NP_542391.2	Q96H79	ZCCHL_HUMAN	zinc finger CCCH-type, antiviral 1-like	140										NS(2)|endometrium(2)|large_intestine(1)|lung(4)|skin(1)	10						CATGGCTTTTCAGGACCTGCA	0.488000													12	20					0	0	1	0	0
DIS3L	115752	broad.mit.edu	37	15	66615186	66615186	+	Silent	SNP	T	T	C			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr15:66615186T>C	ENST00000319194.5	+	10	1500	c.1239T>C	c.(1237-1239)aaT>aaC	p.N413N	RP11-352G18.2_ENST00000565993.1_RNA|DIS3L_ENST00000319212.4_Silent_p.N496N|DIS3L_ENST00000441424.2_3'UTR	NM_133375.3	NP_588616.1	Q8TF46	DI3L1_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like	496					rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CCTTAAATAATGGCAACCTGG	0.408000													11	24					0	0	1	0	0
PCDHA4	56144	broad.mit.edu	37	5	140187629	140187629	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr5:140187629C>T	ENST00000530339.1	+	1	857	c.857C>T	c.(856-858)tCg>tTg	p.S286L	PCDHA4_ENST00000356878.4_Missense_Mutation_p.S286L|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.S286L	NM_018907.2	NP_061730.1												p.S286L(1)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATGATATTTCGCCAAATGTG	0.313000													18	36					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12475169	12475169	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr1:12475169G>C	ENST00000358136.3	+	64	12190	c.12060G>C	c.(12058-12060)ttG>ttC	p.L4020F	VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Missense_Mutation_p.L3995F|VPS13D_ENST00000543766.1_Missense_Mutation_p.L18F	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	4019					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GGTTTCCTTTGATACGGTTTG	0.393000													19	26					0	0	1	0	0
ICAM1	3383	broad.mit.edu	37	19	10385469	10385469	+	Silent	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr19:10385469C>T	ENST00000264832.3	+	2	421	c.96C>T	c.(94-96)tcC>tcT	p.S32S	ICAM1_ENST00000423829.2_Intron|CTD-2369P2.5_ENST00000592893.1_RNA	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	32					adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	CATCTGTGTCCCCCTCAAAAG	0.572000													13	32					0	0	1	0	0
GCM1	8521	broad.mit.edu	37	6	53010368	53010368	+	Silent	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr6:53010368C>T	ENST00000259803.7	-	2	274	c.63G>A	c.(61-63)gtG>gtA	p.V21V		NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	21						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					GTGGCAGTTTCACATCATTAA	0.418000													26	28					0	0	1	0	0
TSPAN10	83882	broad.mit.edu	37	17	79612587	79612587	+	RNA	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr17:79612587C>T	ENST00000328585.4	+	0	696				TSPAN10_ENST00000572675.1_RNA	NM_031945.3	NP_114151.3	Q9H1Z9	TSN10_HUMAN	tetraspanin 10							integral to membrane				ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			TGCGCTTCCTCCTCGACCAAG	0.672000													6	5					0	0	1	0	0
BRIP1	83990	broad.mit.edu	37	17	59763418	59763418	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr17:59763418G>A	ENST00000259008.2	-	19	2951	c.2684C>T	c.(2683-2685)tCc>tTc	p.S895F	BRIP1_ENST00000577598.1_Missense_Mutation_p.S895F	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	895	Interaction with BRCA1.				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						GTCCTTTATGGATACATTAAG	0.393000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					47	51					0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143048830	143048830	+	Silent	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr7:143048830G>A	ENST00000343257.2	+	23	2826	c.2739G>A	c.(2737-2739)agG>agA	p.R913R		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	913					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CTGAGGACAGGCCTGGGGCCA	0.632000													22	35					0	0	1	0	0
TUBA3C	7278	broad.mit.edu	37	13	19752485	19752485	+	Silent	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr13:19752485C>T	ENST00000400113.3	-	3	380	c.276G>A	c.(274-276)ctG>ctA	p.L92L		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	92					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TCCCGGTGATCAGCTGCTCTG	0.522000													23	31					0	0	1	0	0
IGLL1	3543	broad.mit.edu	37	22	23915632	23915632	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr22:23915632G>A	ENST00000330377.2	-	3	580	c.463C>T	c.(463-465)Ccc>Tcc	p.P155S	IGLL1_ENST00000249053.3_3'UTR|AP000345.2_ENST00000458318.1_RNA	NM_020070.3	NP_064455.1	P15814	IGLL1_HUMAN	immunoglobulin lambda-like polypeptide 1	155	C region (By similarity to lambda light- chain).|Ig-like C1-type.				immune response	extracellular region|membrane				kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						TGGGTGATGGGGGTACCATCT	0.577000													29	84					0	0	1	0	0
PHF12	57649	broad.mit.edu	37	17	27237296	27237296	+	Silent	SNP	T	T	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr17:27237296T>A	ENST00000577226.1	-	11	2653	c.2307A>T	c.(2305-2307)tcA>tcT	p.S769S	PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000332830.4_Silent_p.S769S			Q96QT6	PHF12_HUMAN	PHD finger protein 12	769					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			CACTGCCCGGTGAAGGTTGGA	0.522000													16	38					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41450905	41450905	+	Splice_Site	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr21:41450905C>T	ENST00000400454.1	-	26	4898		c.e26-1			NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule						cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AACTGGGGCTCTGGGGGAGAA	0.597000													5	22					0	0	1	0	0
UTP15	84135	broad.mit.edu	37	5	72874881	72874881	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr5:72874881A>G	ENST00000296792.4	+	11	1441	c.1186A>G	c.(1186-1188)Atc>Gtc	p.I396V	UTP15_ENST00000543251.1_Missense_Mutation_p.I206V|UTP15_ENST00000508491.1_Missense_Mutation_p.I377V	NM_032175.2	NP_115551.2	Q8TED0	UTP15_HUMAN	UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae)	396					rRNA processing	cytoplasm|nucleolus				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)		TACGGTGTCCATCATAAAGGA	0.378000													8	19					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56515291	56515291	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr19:56515291C>T	ENST00000390649.3	+	2	272	c.272C>T	c.(271-273)tCg>tTg	p.S91L		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	91	DAPIN.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TCTTCAGAATCGACCACATGC	0.453000													11	16					0	0	1	0	0
ALG3	10195	broad.mit.edu	37	3	183961398	183961398	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr3:183961398G>A	ENST00000455059.1	-	7	1287	c.833C>T	c.(832-834)tCg>tTg	p.S278L	EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000445626.2_Missense_Mutation_p.S270L|ALG3_ENST00000463495.1_5'UTR|ALG3_ENST00000418734.2_Missense_Mutation_p.S262L|ALG3_ENST00000397676.3_Missense_Mutation_p.S318L			Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase	318					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCTCAGCAGCGACAAGATACT	0.488000													4	19					0	0	1	0	0
POF1B	79983	broad.mit.edu	37	X	84559402	84559402	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chrX:84559402C>T	ENST00000262753.4	-	14	1658	c.1513G>A	c.(1513-1515)Gaa>Aaa	p.E505K	POF1B_ENST00000373145.3_Missense_Mutation_p.E505K	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	505							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						CTTGTCAGTTCATGAAGCTTA	0.368000													22	39					0	0	1	0	0
EFEMP2	30008	broad.mit.edu	37	11	65638014	65638014	+	Silent	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr11:65638014C>T	ENST00000307998.6	-	5	713	c.483G>A	c.(481-483)gaG>gaA	p.E161E	EFEMP2_ENST00000528176.1_Silent_p.E161E	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	161	EGF-like 2; calcium-binding (Potential).				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		CACCCACACACTCGGGCCCGA	0.622000													8	15					0	0	1	0	0
CCDC155	147872	broad.mit.edu	37	19	49900955	49900955	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr19:49900955G>A	ENST00000447857.3	+	6	653	c.448G>A	c.(448-450)Gaa>Aaa	p.E150K		NM_144688.4	NP_653289.3	Q8N6L0	CC155_HUMAN	coiled-coil domain containing 155	150						integral to membrane	calcium ion binding	p.E150K(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						CTTCGGAGGCGAAGACCCCAG	0.627000													29	45					0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41008083	41008083	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr19:41008083G>A	ENST00000352632.3	+	9	1032	c.946G>A	c.(946-948)Gag>Aag	p.E316K	SPTBN4_ENST00000595535.1_Missense_Mutation_p.E316K|SPTBN4_ENST00000338932.3_Missense_Mutation_p.E316K|SPTBN4_ENST00000598249.1_Missense_Mutation_p.E316K|SPTBN4_ENST00000344104.3_Missense_Mutation_p.E316K			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	316					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACGCTACGAGGAGCTGGCGGC	0.597000													31	34					0	0	1	0	0
MSI2	124540	broad.mit.edu	37	17	55729465	55729465	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr17:55729465C>T	ENST00000284073.2	+	11	942	c.733C>T	c.(733-735)Cca>Tca	p.P245S	MSI2_ENST00000579505.1_3'UTR|MSI2_ENST00000442934.2_Missense_Mutation_p.P184S|MSI2_ENST00000416426.2_Missense_Mutation_p.P223S	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN	musashi RNA-binding protein 2	245						cytoplasm	nucleotide binding|RNA binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		ACCAGGCTTCCCAGCAGCGGC	0.637000			T	HOXA9	CML								16	27					0	0	1	0	0
CFHR2	3080	broad.mit.edu	37	1	196927079	196927079	+	Silent	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr1:196927079C>T	ENST00000367415.4	+	4	603	c.489C>T	c.(487-489)ttC>ttT	p.F163F	CFHR2_ENST00000367421.3_Silent_p.F163F|CFHR2_ENST00000476712.1_3'UTR	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	163	Sushi 3.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						TTACTTCATTCCTGTTGTCAG	0.378000													31	42					0	0	1	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12844428	12844428	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr17:12844428A>G	ENST00000379672.5	+	8	938	c.638A>G	c.(637-639)aAc>aGc	p.N213S	ARHGAP44_ENST00000262444.9_Missense_Mutation_p.N213S|ARHGAP44_ENST00000340825.3_Missense_Mutation_p.N213S	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	213	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						GACTATGCAAACTACTTTCAA	0.408000													10	21					0	0	1	0	0
PSD	5662	broad.mit.edu	37	10	104175826	104175826	+	Silent	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr10:104175826G>A	ENST00000020673.5	-	3	1231	c.705C>T	c.(703-705)atC>atT	p.I235I	PSD_ENST00000406432.1_Silent_p.I235I	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	235					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		TGGCTCTAGCGATTCTCTGGG	0.597000													9	5					0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554400	140554400	+	Silent	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr5:140554400C>T	ENST00000231137.3	+	1	2158	c.1984C>T	c.(1984-1986)Ctg>Ttg	p.L662L		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		662	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCACGTGCTCCTGGTGGACGG	0.706000													28	381					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48608328	48608328	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr3:48608328C>T	ENST00000328333.8	-	94	7345	c.7238G>A	c.(7237-7239)gGa>gAa	p.G2413E	COL7A1_ENST00000454817.1_Missense_Mutation_p.G2381E	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2413	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ACCCATCTCTCCTCGAGGGCC	0.632000													6	7					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				21	34					0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121740317	121740317	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr2:121740317C>T	ENST00000452319.1	+	11	1604	c.1544C>T	c.(1543-1545)tCc>tTc	p.S515F	GLI2_ENST00000314490.11_Missense_Mutation_p.S187F|GLI2_ENST00000361492.4_Missense_Mutation_p.S515F|GLI2_ENST00000435313.2_3'UTR			P10070	GLI2_HUMAN	GLI family zinc finger 2	515					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				AAGGCCTACTCCCGCCTGGAG	0.627000													17	19					0	0	1	0	0
C3orf56	285311	broad.mit.edu	37	3	126916061	126916061	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr3:126916061C>T	ENST00000398112.1	+	2	773	c.533C>T	c.(532-534)cCc>cTc	p.P178L		NM_001007534.2	NP_001007535.1			chromosome 3 open reading frame 56											breast(1)|endometrium(2)|kidney(1)|lung(5)	9				GBM - Glioblastoma multiforme(114;0.142)		AGAGGAGCTCCCTACTTGAAG	0.652000													12	31					0	0	1	0	0
SH3D21	79729	broad.mit.edu	37	1	36786686	36786686	+	Silent	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr1:36786686C>T	ENST00000453908.2	+	16	2257	c.2229C>T	c.(2227-2229)tcC>tcT	p.S743S	SH3D21_ENST00000426732.2_Silent_p.S627S|SH3D21_ENST00000312808.4_Silent_p.S389S|SH3D21_ENST00000474766.1_3'UTR|SH3D21_ENST00000505871.1_Silent_p.S632S	NM_001162530.1	NP_001156002.1	A4FU49	SH321_HUMAN	SH3 domain containing 21	627										endometrium(1)|large_intestine(6)|lung(4)|pancreas(1)	12						CCCAGAAGTCCCAGACCCCGC	0.701000													8	8					0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71398134	71398134	+	Silent	SNP	G	G	C			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr17:71398134G>C	ENST00000392650.3	-	19	2631	c.2631C>G	c.(2629-2631)ccC>ccG	p.P877P	SDK2_ENST00000388726.3_Silent_p.P877P	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	877	Fibronectin type-III 3.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GCCCGTCCCCGGGGGTGGTGA	0.657000													13	10					0	0	1	0	0
OR51F1	256892	broad.mit.edu	37	11	4790977	4790977	+	Silent	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr11:4790977G>A	ENST00000380383.1	-	1	191	c.192C>T	c.(190-192)ctC>ctT	p.L64L	MMP26_ENST00000477339.1_Intron|OR51F1_ENST00000343430.3_Silent_p.L57L|MMP26_ENST00000380390.1_Intron			A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F, member 1	57						integral to membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		TGGGTTCATGGAGACTCTGCT	0.458000													6	17					0	0	1	0	0
TMEM55B	90809	broad.mit.edu	37	14	20928415	20928415	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr14:20928415G>A	ENST00000250489.4	-	3	662	c.376C>T	c.(376-378)Ccc>Tcc	p.P126S	TMEM55B_ENST00000554028.1_5'UTR|TMEM55B_ENST00000398020.4_Missense_Mutation_p.P133S			Q86T03	TM55B_HUMAN	transmembrane protein 55B	126						integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)		CAGTTACAGGGGCATCGAACA	0.507000													9	19					0	0	1	0	0
OR5M1	390168	broad.mit.edu	37	11	56380221	56380221	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr11:56380221C>T	ENST00000526538.1	-	1	757	c.758G>A	c.(757-759)gGa>gAa	p.G253E		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						GAAGAGGGTTCCATAAAACAA	0.443000													38	60					0	0	1	0	0
CDH4	1002	broad.mit.edu	37	20	60469970	60469970	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr20:60469970T>C	ENST00000360469.5	+	8	1143	c.1055T>C	c.(1054-1056)gTt>gCt	p.V352A	CDH4_ENST00000543233.1_Missense_Mutation_p.V278A	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	352	Cadherin 2.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			TTCCAGAAAGTTCAGCAGTAC	0.448000													23	56					0	0	1	0	0
PROS1	5627	broad.mit.edu	37	3	93595858	93595858	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr3:93595858C>T	ENST00000394236.3	-	14	2138	c.1822G>A	c.(1822-1824)Gac>Aac	p.D608N	PROS1_ENST00000407433.1_Missense_Mutation_p.D477N	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	608	Laminin G-like 2.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|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)	ATTGCTTTGTCCAAGACGGCA	0.393000													32	49					0	0	1	0	0
LMAN2	10960	broad.mit.edu	37	5	176759164	176759164	+	Silent	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr5:176759164G>A	ENST00000303127.7	-	8	1198	c.994C>T	c.(994-996)Ctg>Ttg	p.L332L	LMAN2_ENST00000515209.1_3'UTR	NM_006816.2	NP_006807.1	Q12907	LMAN2_HUMAN	lectin, mannose-binding 2	332					protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	metal ion binding|sugar binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACGATGCCCAGGAGAGCGCAC	0.682000													19	16					0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26692987	26692987	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr22:26692987C>T	ENST00000529632.2	+	4	1299	c.1103C>T	c.(1102-1104)tCc>tTc	p.S368F	SEZ6L_ENST00000343706.4_Missense_Mutation_p.S368F|SEZ6L_ENST00000404234.3_Missense_Mutation_p.S368F|SEZ6L_ENST00000403121.1_Missense_Mutation_p.S141F|SEZ6L_ENST00000402979.1_Missense_Mutation_p.S141F|SEZ6L_ENST00000248933.6_Missense_Mutation_p.S368F|SEZ6L_ENST00000360929.3_Missense_Mutation_p.S368F	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	368	CUB 1.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						AACACCATCTCCGTCTACTTC	0.617000													6	15					0	0	1	0	0
PVRIG	79037	broad.mit.edu	37	7	99818390	99818390	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr7:99818390C>A	ENST00000317271.2	+	5	967	c.604C>A	c.(604-606)Cct>Act	p.P202T	GATS_ENST00000436886.2_Intron|GATS_ENST00000543273.1_RNA	NM_024070.3	NP_076975.2	Q6DKI7	PVRIG_HUMAN	poliovirus receptor related immunoglobulin domain containing	202						integral to membrane				breast(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)	11	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAGCCCTGCCCCTAGGCTCCA	0.672000													18	31					2.35188e-11	2.40446e-11	1	1	0
TACR3	6870	broad.mit.edu	37	4	104510868	104510868	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr4:104510868G>T	ENST00000304883.2	-	5	1509	c.1369C>A	c.(1369-1371)Ccc>Acc	p.P457T	RP11-297P16.3_ENST00000512401.1_RNA|RP11-297P16.3_ENST00000502936.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	457						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		GAGGTATAGGGTGAGCTTATG	0.453000													25	55					1.85244e-09	1.89002e-09	1	1	0
VPS37B	79720	broad.mit.edu	37	12	123352008	123352008	+	Silent	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr12:123352008C>T	ENST00000267202.2	-	4	894	c.513G>A	c.(511-513)caG>caA	p.Q171Q		NM_024667.2	NP_078943.1	Q9H9H4	VP37B_HUMAN	vacuolar protein sorting 37 homolog B (S. cerevisiae)	171	Pro-rich.|VPS37 C-terminal.				cellular membrane organization|endosome transport|protein transport	late endosome membrane				breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		GGGCCAGGGCCTGTGGGAGTC	0.637000													48	54					0	0	1	0	0
SLC52A2	79581	broad.mit.edu	37	8	145583947	145583947	+	Silent	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr8:145583947C>T	ENST00000532887.1	+	3	1378	c.795C>T	c.(793-795)gaC>gaT	p.D265D	SLC52A2_ENST00000540505.1_Silent_p.D177D|SLC52A2_ENST00000329994.2_Silent_p.D265D|SLC52A2_ENST00000402965.1_Silent_p.D265D|SLC52A2_ENST00000530047.1_Silent_p.D265D|SLC52A2_ENST00000527078.1_Silent_p.D265D|SLC52A2_ENST00000526752.1_Intron			Q9HAB3	RFT3_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	265						integral to plasma membrane	receptor activity|riboflavin transporter activity										CTGGTCCAGACCCTAAGGCCT	0.652000													20	44					0	0	1	0	0
URGCP	55665	broad.mit.edu	37	7	43916580	43916580	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr7:43916580G>A	ENST00000336086.6	-	4	4589	c.2353C>T	c.(2353-2355)Ccc>Tcc	p.P785S	URGCP_ENST00000447717.3_Missense_Mutation_p.P785S|URGCP_ENST00000443736.1_Missense_Mutation_p.P785S|RP5-1165K10.1_ENST00000603700.1_Intron|URGCP_ENST00000223341.7_Missense_Mutation_p.P785S|URGCP_ENST00000402306.3_Missense_Mutation_p.P819S|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000453200.1_Missense_Mutation_p.P828S			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	828					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTAGGGCCGGGAACAGATACA	0.547000													12	21					0	0	1	0	0
KRT25	147183	broad.mit.edu	37	17	38906841	38906841	+	Silent	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr17:38906841G>A	ENST00000312150.4	-	6	1026	c.966C>T	c.(964-966)tcC>tcT	p.S322S		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	322	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				AGCACTCCAGGGAGTGTTTCT	0.498000													46	89					0	0	1	0	0
SSR4	6748	broad.mit.edu	37	X	153063534	153063534	+	Silent	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chrX:153063534G>A	ENST00000320857.3	+	6	1444	c.360G>A	c.(358-360)agG>agA	p.R120R	SSR4_ENST00000460616.1_3'UTR|SSR4_ENST00000370086.3_Silent_p.R120R|SSR4_ENST00000370085.3_Silent_p.R95R|SSR4_ENST00000370087.1_Silent_p.R120R	NM_001204526.1	NP_001191455.1	P51571	SSRD_HUMAN	signal sequence receptor, delta	120					intracellular protein transport	integral to membrane|Sec61 translocon complex	calcium ion binding|protein binding			central_nervous_system(1)|endometrium(1)|lung(2)	4	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					aGGCTCAGAGGAATAACGAGG	0.617000													56	129					0	0	1	0	0
PECR	55825	broad.mit.edu	37	2	216904052	216904052	+	Silent	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr2:216904052G>A	ENST00000265322.7	-	8	932	c.858C>T	c.(856-858)gaC>gaT	p.D286D		NM_018441.5	NP_060911.2	Q9BY49	PECR_HUMAN	peroxisomal trans-2-enoyl-CoA reductase	286					fatty acid biosynthetic process|regulation of apoptosis	peroxisome	binding|trans-2-enoyl-CoA reductase (NADPH) activity			endometrium(2)|kidney(1)|liver(1)|lung(9)|stomach(1)	14		Renal(323;0.0327)		Epithelial(149;3.8e-06)|all cancers(144;0.000272)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Adenine(DB00173)	CAACAGAAAGGTCCCCTGCTC	0.483000													23	40					0	0	1	0	0
KLK6	5653	broad.mit.edu	37	19	51466682	51466682	+	Silent	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr19:51466682G>A	ENST00000376851.3	-	4	760	c.321C>T	c.(319-321)atC>atT	p.I107I	CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000391808.1_5'UTR|KLK6_ENST00000376853.4_Intron|KLK6_ENST00000594641.1_Silent_p.I107I|KLK6_ENST00000310157.2_Silent_p.I107I	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	107	Peptidase S1.				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity	p.I107I(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		GCAACAGCATGATGTCCTGGT	0.592000													8	30					0	0	1	0	0
OR4C12	283093	broad.mit.edu	37	11	50003858	50003858	+	Silent	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr11:50003858G>A	ENST00000335238.4	-	1	213	c.180C>T	c.(178-180)ttC>ttT	p.F60F		NM_001005270.2	NP_001005270.1	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F60F(1)		NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						GGTGGGTCAGGAAGAAGTACA	0.408000													18	28					0	0	1	0	0
VIP	7432	broad.mit.edu	37	6	153073383	153073383	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr6:153073383C>T	ENST00000367244.3	+	2	243	c.71C>T	c.(70-72)tCg>tTg	p.S24L	VIP_ENST00000367243.3_Missense_Mutation_p.S24L	NM_003381.3	NP_003372.1	P01282	VIP_HUMAN	vasoactive intestinal peptide	24					body fluid secretion|G-protein coupled receptor protein signaling pathway|positive regulation of cell proliferation	extracellular region	neuropeptide hormone activity			haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1)	6		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)		TCACAGACTTCGGCATGGCCT	0.458000													16	8					0	0	1	0	0
CAPN2	824	broad.mit.edu	37	1	223959522	223959522	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr1:223959522C>T	ENST00000295006.5	+	19	2224	c.1915C>T	c.(1915-1917)Ccc>Tcc	p.P639S	CAPN2_ENST00000433674.2_Missense_Mutation_p.P561S|CAPN2_ENST00000474026.1_3'UTR	NM_001748.4	NP_001739.2	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	639	Domain IV.				proteolysis	cytoplasm|plasma membrane				breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		TTTCAAGATGCCCTGTCAACT	0.428000													4	82					0	0	1	0	0
FAM49A	81553	broad.mit.edu	37	2	16742485	16742485	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr2:16742485C>T	ENST00000381323.3	-	8	794	c.574G>A	c.(574-576)Gaa>Aaa	p.E192K	FAM49A_ENST00000355549.2_Missense_Mutation_p.E192K|FAM49A_ENST00000406434.1_Missense_Mutation_p.E192K	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	192						intracellular				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			GGCGTGGCTTCTGCATAGAAG	0.398000													15	41					0	0	1	0	0
INTS6	26512	broad.mit.edu	37	13	51952464	51952464	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr13:51952464G>A	ENST00000311234.4	-	12	1985	c.1513C>T	c.(1513-1515)Ctc>Ttc	p.L505F	INTS6_ENST00000463928.1_Intron|INTS6_ENST00000398119.2_Missense_Mutation_p.L492F|INTS6_ENST00000497989.1_Missense_Mutation_p.L327F|INTS6_ENST00000490542.1_Missense_Mutation_p.L189F|INTS6_ENST00000425000.1_Missense_Mutation_p.L73F	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	505					snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		ATTCCCTGGAGGAGTTGTTGA	0.408000													29	46					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25419986	25419986	+	RNA	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr15:25419986C>T	ENST00000549301.1	+	0	721				SNHG14_ENST00000441592.2_RNA																							tccctgacttccctcaacaCT	0.517000													21	45					0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55106812	55106812	+	Silent	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr19:55106812G>A	ENST00000453777.1	+	5	776	c.606G>A	c.(604-606)tcG>tcA	p.S202S	LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRA1_ENST00000251372.3_Silent_p.S202S|LILRB1_ENST00000396321.2_Intron	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	202	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CTTATGACTCGAACTCTCCCC	0.587000													51	57					0	0	1	0	0
ZNF714	148206	broad.mit.edu	37	19	21300274	21300274	+	Silent	SNP	T	T	C			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr19:21300274T>C	ENST00000596143.1	+	5	1129	c.804T>C	c.(802-804)ccT>ccC	p.P268P	ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000291770.7_3'UTR	NM_182515.3	NP_872321.2	Q96N38	ZN714_HUMAN	zinc finger protein 714	269					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						TTAACCACCCTTCAGCCCTTA	0.368000													4	8					0	0	1	0	0
TPCN2	219931	broad.mit.edu	37	11	68837917	68837917	+	Silent	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr11:68837917C>T	ENST00000294309.3	+	9	950	c.849C>T	c.(847-849)tcC>tcT	p.S283S	TPCN2_ENST00000542467.1_Silent_p.S283S|TPCN2_ENST00000442692.2_3'UTR	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	283					cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CTGCGTATTCCAAGAACCGGG	0.463000													15	31					0	0	1	0	0
POLR1A	25885	broad.mit.edu	37	2	86270136	86270136	+	Silent	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr2:86270136C>T	ENST00000263857.6	-	23	3696	c.3318G>A	c.(3316-3318)gaG>gaA	p.E1106E	POLR1A_ENST00000409681.1_Silent_p.E1106E			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1106					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GGTTTTCACTCTCAAGTTTCA	0.532000													24	56					0	0	1	0	0
OR2G3	81469	broad.mit.edu	37	1	247769700	247769700	+	Silent	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr1:247769700G>A	ENST00000320002.2	+	1	845	c.813G>A	c.(811-813)ggG>ggA	p.G271G	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AGGACCAAGGGAAGTTTATCT	0.453000													20	22					0	0	1	0	0
USP6	9098	broad.mit.edu	37	17	5064849	5064849	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr17:5064849C>T	ENST00000574788.1	+	32	5085	c.2855C>T	c.(2854-2856)cCa>cTa	p.P952L	USP6_ENST00000332776.4_3'UTR|USP6_ENST00000304328.5_Missense_Mutation_p.P635L|USP6_ENST00000250066.6_Missense_Mutation_p.P952L			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	952					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TATCAATATCCATTCACTCTA	0.398000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								15	20					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227875029	227875029	+	Splice_Site	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr2:227875029C>T	ENST00000396625.3	-	46	4729	c.4522_splice	c.e46+1	p.G1508_splice	COL4A4_ENST00000329662.7_Splice_Site_p.G1505_splice	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1508	Collagen IV NC1.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GTATCCATACCAAGGTCTTGA	0.478000													27	32					0	0	1	0	0
OR8J3	81168	broad.mit.edu	37	11	55905072	55905072	+	Silent	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr11:55905072C>T	ENST00000301529.1	-	1	122	c.123G>A	c.(121-123)ggG>ggA	p.G41G		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					TGCCCAGGTTCCCTGCCATGG	0.493000													46	51					0	0	1	0	0
ESM1	11082	broad.mit.edu	37	5	54277898	54277898	+	Silent	SNP	C	C	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr5:54277898C>A	ENST00000381405.4	-	2	523	c.378G>T	c.(376-378)acG>acT	p.T126T	ESM1_ENST00000598310.1_Intron|ESM1_ENST00000381403.4_Intron	NM_007036.4	NP_008967.1	Q9NQ30	ESM1_HUMAN	endothelial cell-specific molecule 1	126					angiogenesis|regulation of cell growth	extracellular region	growth factor activity|insulin-like growth factor binding			breast(1)|kidney(1)|large_intestine(4)|lung(4)	10		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	Lung(15;0.23)			GGCATTTTCCCGTCCCCCTGT	0.493000													9	67					3.07112e-06	3.10195e-06	1	1	0
DSP	1832	broad.mit.edu	37	6	7565663	7565663	+	Silent	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr6:7565663C>T	ENST00000379802.3	+	7	1190	c.849C>T	c.(847-849)atC>atT	p.I283I	DSP_ENST00000418664.2_Silent_p.I283I	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	283	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CCAGGGAGATCATGTGGATCA	0.527000													18	29					0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	95994022	95994022	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr10:95994022C>T	ENST00000260766.3	+	6	2801	c.2167C>T	c.(2167-2169)Ctc>Ttc	p.L723F	PLCE1_ENST00000371380.2_Missense_Mutation_p.L723F|PLCE1_ENST00000371385.3_Missense_Mutation_p.L415F|PLCE1_ENST00000371375.1_Missense_Mutation_p.L415F	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	723	Ras-GEF.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CGCCTCCGGTCTCATGAAGCT	0.542000													20	20					0	0	1	0	0
SSR4	6748	broad.mit.edu	37	X	153063533	153063533	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chrX:153063533G>A	ENST00000320857.3	+	6	1443	c.359G>A	c.(358-360)aGg>aAg	p.R120K	SSR4_ENST00000460616.1_3'UTR|SSR4_ENST00000370086.3_Missense_Mutation_p.R120K|SSR4_ENST00000370085.3_Missense_Mutation_p.R95K|SSR4_ENST00000370087.1_Missense_Mutation_p.R120K	NM_001204526.1	NP_001191455.1	P51571	SSRD_HUMAN	signal sequence receptor, delta	120					intracellular protein transport	integral to membrane|Sec61 translocon complex	calcium ion binding|protein binding			central_nervous_system(1)|endometrium(1)|lung(2)	4	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					caGGCTCAGAGGAATAACGAG	0.617000													56	128					0	0	1	0	0
TENM2	57451	broad.mit.edu	37	5	167627132	167627132	+	Silent	SNP	T	T	C			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr5:167627132T>C	ENST00000519204.1	+	16	3181	c.3063T>C	c.(3061-3063)gcT>gcC	p.A1021A	TENM2_ENST00000518659.1_Silent_p.A1142A|TENM2_ENST00000403607.2_Silent_p.A966A|TENM2_ENST00000545108.1_Silent_p.A1142A|TENM2_ENST00000520394.1_Silent_p.A910A					teneurin transmembrane protein 2																		TCTCAGATGCTGTTGGTATGT	0.443000													5	5					0	0	1	0	0
ITGAX	3687	broad.mit.edu	37	16	31368378	31368378	+	Silent	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr16:31368378C>T	ENST00000268296.4	+	4	395	c.274C>T	c.(274-276)Ctg>Ttg	p.L92L	ITGAX_ENST00000562522.1_Silent_p.L92L|ITGAX_ENST00000562918.1_3'UTR	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	92					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GAACATGTCCCTGGGCCTGTC	0.662000													13	24					0	0	1	0	0
RBM7	10179	broad.mit.edu	37	11	114278242	114278242	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr11:114278242C>T	ENST00000540163.1	+	5	1156	c.514C>T	c.(514-516)Cca>Tca	p.P172S	RBM7_ENST00000541475.1_3'UTR|RP11-212D19.4_ENST00000544347.1_Intron|RBM7_ENST00000375490.5_Missense_Mutation_p.P173S|RBM7_ENST00000544582.1_Intron|RBM7_ENST00000545678.1_Missense_Mutation_p.P52S			Q9Y580	RBM7_HUMAN	RNA binding motif protein 7	172					meiosis		nucleotide binding|protein binding|RNA binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348)		AGGATTTTCACCATCAGTTCA	0.408000													25	49					0	0	1	0	0
CC2D1A	54862	broad.mit.edu	37	19	14024395	14024395	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr19:14024395C>T	ENST00000318003.7	+	6	933	c.692C>T	c.(691-693)cCt>cTt	p.P231L	CC2D1A_ENST00000589606.1_Missense_Mutation_p.P231L	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	231	Pro-rich.				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			CTGGAGGGACCTTCTGCCACC	0.682000													10	23					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11098498	11098498	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr19:11098498C>T	ENST00000358026.2	+	6	1300	c.1016C>T	c.(1015-1017)cCc>cTc	p.P339L	SMARCA4_ENST00000541122.2_Missense_Mutation_p.P339L|SMARCA4_ENST00000450717.3_Missense_Mutation_p.P339L|SMARCA4_ENST00000444061.3_Missense_Mutation_p.P339L|SMARCA4_ENST00000590574.1_Missense_Mutation_p.P339L|SMARCA4_ENST00000589677.1_Missense_Mutation_p.P339L|SMARCA4_ENST00000344626.4_Missense_Mutation_p.P339L|SMARCA4_ENST00000429416.3_Missense_Mutation_p.P339L|SMARCA4_ENST00000413806.3_Missense_Mutation_p.P339L	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	339					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|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	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCGGCCCAGCCCGCGCCCATG	0.746000			"""F, N, Mis"""		NSCLC								3	5					0	0	1	0	0
CLCA2	9635	broad.mit.edu	37	1	86921125	86921125	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr1:86921125T>G	ENST00000370565.4	+	14	2909	c.2747T>G	c.(2746-2748)aTt>aGt	p.I916S		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	916					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		ATAGGAATCATTTGCCTTATT	0.353000													48	65					0	0	1	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39109254	39109254	+	Silent	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr9:39109254C>T	ENST00000297668.6	-	15	2341	c.2268G>A	c.(2266-2268)aaG>aaA	p.K756K	CNTNAP3_ENST00000377656.2_Silent_p.K755K|CNTNAP3_ENST00000358144.2_Silent_p.K668K	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	756	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)		GCAGGTGCTCCTTTTGGGAAA	0.463000													5	21					0	0	1	0	0
PROSER1	80209	broad.mit.edu	37	13	39586889	39586889	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr13:39586889G>A	ENST00000352251.3	-	11	3333	c.2500C>T	c.(2500-2502)Ctc>Ttc	p.L834F	PROSER1_ENST00000350125.3_Missense_Mutation_p.L812F|PROSER1_ENST00000484434.2_Intron	NM_025138.3	NP_079414.3	Q86XN7	CM023_HUMAN	proline and serine rich 1	834																	AATCCTGGGAGGACTGGAGCT	0.547000													25	30					0	0	1	0	0
SLC4A10	57282	broad.mit.edu	37	2	162751222	162751222	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr2:162751222C>T	ENST00000375514.5	+	11	1458	c.1171C>T	c.(1171-1173)Cgt>Tgt	p.R391C	SLC4A10_ENST00000535165.1_Silent_p.I380I|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000421911.1_Missense_Mutation_p.R410C|SLC4A10_ENST00000415876.2_Missense_Mutation_p.R380C|SLC4A10_ENST00000446997.1_Missense_Mutation_p.R410C|SLC4A10_ENST00000272716.5_Missense_Mutation_p.R380C	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	410					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	p.R380C(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AGCTAAAGATCGTAATGACTT	0.328000													8	18					0	0	1	0	0
AKR1B15	441282	broad.mit.edu	37	7	134254274	134254274	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr7:134254274G>A	ENST00000457545.2	+	5	688	c.428G>A	c.(427-429)gGa>gAa	p.G143E	AKR1B15_ENST00000423958.1_Missense_Mutation_p.G115E	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	143							oxidoreductase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						TGGCCACAGGGATTCAAGGTT	0.502000													11	22					0	0	1	0	0
FAM47B	170062	broad.mit.edu	37	X	34960954	34960954	+	Silent	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chrX:34960954G>A	ENST00000329357.5	+	1	42	c.6G>A	c.(4-6)ggG>ggA	p.G2G		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	2										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CCACCATGGGGGACCGGAGGC	0.627000													6	7					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21826358	21826358	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr7:21826358G>A	ENST00000328843.6	+	60	9766	c.9735G>A	c.(9733-9735)tgG>tgA	p.W3245*	DNAH11_ENST00000409508.3_Nonsense_Mutation_p.W3238*			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3245	Stalk (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.W3245fs*6(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ACCGAAGTTGGAAAGCAGCTA	0.478000									Kartagener syndrome				50	67					0	0	1	0	0
ENPP5	59084	broad.mit.edu	37	6	46133271	46133271	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr6:46133271T>C	ENST00000371383.2	-	4	1119	c.859A>G	c.(859-861)Act>Gct	p.T287A	ENPP5_ENST00000230565.3_Missense_Mutation_p.T287A|ENPP5_ENST00000492313.1_5'UTR			Q9UJA9	ENPP5_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)	287						extracellular region|integral to membrane	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						TGAGCGTGAGTTAGTGCTTCA	0.408000													25	31					0	0	1	0	0
TLE1	7088	broad.mit.edu	37	9	84235405	84235405	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr9:84235405G>A	ENST00000376499.3	-	9	1726	c.662C>T	c.(661-663)tCc>tTc	p.S221F	TLE1_ENST00000376472.1_5'UTR|TLE1_ENST00000464999.1_5'UTR	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	221	CCN domain.				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						GATGTCATTGGAAAATTCAGG	0.378000													12	33					0	0	1	0	0
TWF2	11344	broad.mit.edu	37	3	52263076	52263076	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr3:52263076G>A	ENST00000305533.5	-	9	1267	c.1024C>T	c.(1024-1026)Ccg>Tcg	p.P342S	TLR9_ENST00000597542.1_Intron|TWF2_ENST00000499914.2_3'UTR|TLR9_ENST00000494383.1_Intron	NM_007284.3	NP_009215.1			twinfilin actin-binding protein 2											breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;2.43e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TTTTCACCCGGGCCGCGGATG	0.672000													24	35					0	0	1	0	0
KCTD2	23510	broad.mit.edu	37	17	73055679	73055679	+	Silent	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr17:73055679C>T	ENST00000322444.6	+	4	621	c.615C>T	c.(613-615)tcC>tcT	p.S205S	KCTD2_ENST00000581589.1_Silent_p.S6S	NM_015353.1	NP_056168.1	Q14681	KCTD2_HUMAN	potassium channel tetramerization domain containing 2	205						voltage-gated potassium channel complex	voltage-gated potassium channel activity			kidney(1)|lung(2)	3	all_lung(278;0.226)					CCACGATGTCCGACGGCTGGA	0.557000													15	22					0	0	1	0	0
SLC35F1	222553	broad.mit.edu	37	6	118598702	118598702	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr6:118598702G>A	ENST00000360388.4	+	6	1041	c.840G>A	c.(838-840)tgG>tgA	p.W280*		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	280					transport	integral to membrane		p.W280*(1)		breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		CCTGGGACTGGCAAATAGGTA	0.433000													3	47					0	0	1	0	0
SUSD4	55061	broad.mit.edu	37	1	223438036	223438036	+	Silent	SNP	C	C	G	rs144241025		TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr1:223438036C>G	ENST00000343846.3	-	4	1293	c.660G>C	c.(658-660)gcG>gcC	p.A220A	SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000454695.2_Silent_p.A60A|SUSD4_ENST00000366878.4_Silent_p.A220A|SUSD4_ENST00000344029.6_Silent_p.A220A			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	220	Sushi 3.					integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		ACTCAAGATACGCAGACCCAT	0.488000													33	44					0	0	1	0	0
PYGL	5836	broad.mit.edu	37	14	51383426	51383426	+	Silent	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr14:51383426G>A	ENST00000216392.7	-	9	1358	c.1026C>T	c.(1024-1026)caC>caT	p.H342H	PYGL_ENST00000544180.2_Silent_p.H308H|PYGL_ENST00000532462.1_Silent_p.H342H	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	342					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	CGAGTGCAGGGTGAGTGTCAT	0.488000													11	32					0	0	1	0	0
DGKG	1608	broad.mit.edu	37	3	186006556	186006556	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr3:186006556C>T	ENST00000265022.3	-	6	1026	c.487G>A	c.(487-489)Gat>Aat	p.D163N	DGKG_ENST00000344484.4_Missense_Mutation_p.D163N|DGKG_ENST00000382164.4_Missense_Mutation_p.D163N|DGKG_ENST00000544847.1_Missense_Mutation_p.D163N	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	163					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	CACACAACATCCTTCAGGTAT	0.577000													58	109					0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18622285	18622285	+	Silent	SNP	T	T	C			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr9:18622285T>C	ENST00000380548.4	+	5	858	c.519T>C	c.(517-519)gaT>gaC	p.D173D	ADAMTSL1_ENST00000327883.7_Silent_p.D173D|ADAMTSL1_ENST00000380566.4_Silent_p.D173D|ADAMTSL1_ENST00000380570.4_Silent_p.D173D|ADAMTSL1_ENST00000276935.6_Silent_p.D173D	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	173						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TCAAGGAAGATAACTGTGGGG	0.512000													14	31					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90052344	90052344	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr5:90052344C>G	ENST00000405460.2	+	56	11750	c.11654C>G	c.(11653-11655)tCt>tGt	p.S3885C		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3885					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCTGACTTCTCTACAGGACAG	0.448000													18	53					0	0	1	0	0
TBC1D9B	23061	broad.mit.edu	37	5	179318495	179318495	+	Silent	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr5:179318495G>A	ENST00000356834.3	-	6	965	c.928C>T	c.(928-930)Ctg>Ttg	p.L310L	TBC1D9B_ENST00000355235.3_Silent_p.L310L	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	310	GRAM 2.					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCGTCCACAGGGTGCAGCTT	0.597000													20	41					0	0	1	0	0
PIP4K2A	5305	broad.mit.edu	37	10	22898620	22898620	+	Silent	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr10:22898620G>A	ENST00000376573.4	-	2	399	c.171C>T	c.(169-171)atC>atT	p.I57I	PIP4K2A_ENST00000422321.1_5'UTR|PIP4K2A_ENST00000545335.1_5'UTR	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	57	PIPK.						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						ACATAACAGGGATTTGAACAT	0.353000													25	11					0	0	1	0	0
OSGIN1	29948	broad.mit.edu	37	16	83998800	83998800	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr16:83998800C>T	ENST00000343939.2	+	7	1254	c.871C>T	c.(871-873)Ccc>Tcc	p.P291S	OSGIN1_ENST00000393306.1_Missense_Mutation_p.P208S|OSGIN1_ENST00000361711.3_Missense_Mutation_p.P208S			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	291					cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						GACCCCCGATCCCAGCAGCTG	0.642000													38	46					0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55872644	55872644	+	Silent	SNP	G	G	A	rs142929368		TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr11:55872644G>A	ENST00000313503.1	+	1	126	c.126G>A	c.(124-126)ggG>ggA	p.G42G		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CTATGCTGGGGAATGTGGGGA	0.423000										HNSCC(53;0.14)			73	139					0	0	1	0	0
LY6K	54742	broad.mit.edu	37	8	143784646	143784646	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr8:143784646C>T	ENST00000292430.6	+	3	772	c.355C>T	c.(355-357)Cgc>Tgc	p.R119C	LY6K_ENST00000522591.1_3'UTR|LY6K_ENST00000561179.1_Missense_Mutation_p.R177C|LY6K_ENST00000519387.1_3'UTR|LY6K_ENST00000519390.1_3'UTR|CTD-2292P10.4_ENST00000520572.1_RNA			Q17RY6	LY6K_HUMAN	lymphocyte antigen 6 complex, locus K	119	UPAR/Ly6.					anchored to membrane|cytoplasm|extracellular region|nucleolus|plasma membrane				NS(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)	10	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TTGTAAAATTCGCTACTGCAA	0.527000													13	27					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240370455	240370455	+	Silent	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr1:240370455C>T	ENST00000319653.9	+	5	2573	c.2343C>T	c.(2341-2343)ttC>ttT	p.F781F		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	781	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AGACAAAGTTCTGTTCAGAGA	0.582000													23	30					0	0	1	0	0
ZNF569	148266	broad.mit.edu	37	19	37903914	37903914	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr19:37903914G>A	ENST00000316950.6	-	6	2203	c.1646C>T	c.(1645-1647)cCt>cTt	p.P549L	ZNF569_ENST00000392149.2_Missense_Mutation_p.P549L|ZNF569_ENST00000392150.2_Missense_Mutation_p.P390L	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	549					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACATTCATAAGGCTTTTCCCC	0.388000													22	33					0	0	1	0	0
CD86	942	broad.mit.edu	37	3	121822654	121822654	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr3:121822654G>A	ENST00000330540.2	+	3	476	c.360G>A	c.(358-360)atG>atA	p.M120I	CD86_ENST00000393627.2_Missense_Mutation_p.M114I|CD86_ENST00000493101.1_Intron|CD86_ENST00000469710.1_Missense_Mutation_p.M38I|CD86_ENST00000264468.5_Intron	NM_175862.4	NP_787058.4	P42081	CD86_HUMAN	CD86 molecule	120	Ig-like V-type.				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	CCACAGGAATGATTCGCATCC	0.438000													25	46					0	0	1	0	0
GGT6	124975	broad.mit.edu	37	17	4462866	4462866	+	Silent	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr17:4462866G>A	ENST00000301395.3	-	2	389	c.330C>T	c.(328-330)atC>atT	p.I110I	GGT6_ENST00000381550.3_Silent_p.I110I|GGT6_ENST00000574154.1_Silent_p.I110I|GGT6_ENST00000573591.1_5'UTR	NM_153338.2	NP_699169.2	Q6P531	GGT6_HUMAN	gamma-glutamyltransferase 6	110					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			endometrium(2)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						CAGGGCTGATGATGGCACCGT	0.672000													8	13					0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46099262	46099262	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr4:46099262G>A	ENST00000295452.4	-	2	376	c.209C>T	c.(208-210)tCa>tTa	p.S70L		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	70					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.S70L(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TTGAAGCAATGAATTCAGAAT	0.383000													23	53					0	0	1	0	0
ACTRT1	139741	broad.mit.edu	37	X	127185882	127185882	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chrX:127185882T>G	ENST00000371124.3	-	1	500	c.304A>C	c.(304-306)Agc>Cgc	p.S102R		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	102						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						GGCTGTTGGCTGGGTTTTACT	0.473000													117	166					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152281546	152281546	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr1:152281546G>A	ENST00000368799.1	-	3	5851	c.5816C>T	c.(5815-5817)tCc>tTc	p.S1939F	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1939	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGGTTTCTGGAAGCAGACCC	0.577000									Ichthyosis				85	140					0	0	1	0	0
LRRC32	2615	broad.mit.edu	37	11	76372238	76372238	+	Silent	SNP	C	C	T	rs142130044		TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr11:76372238C>T	ENST00000407242.2	-	3	641	c.399G>A	c.(397-399)ggG>ggA	p.G133G	LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000260061.5_Silent_p.G133G|LRRC32_ENST00000404995.1_Silent_p.G133G|AP001189.4_ENST00000447519.1_RNA	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	133						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						ACAGGCTGTTCCCAGACAGGT	0.687000													19	29					0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130831830	130831830	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr2:130831830C>T	ENST00000357462.5	-	15	3308	c.3215G>A	c.(3214-3216)cGc>cAc	p.R1072H	POTEF_ENST00000409914.2_Missense_Mutation_p.R1072H			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	1072	Actin-like.					cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CAAGCATTTGCGGTGGACAAT	0.502000													38	71					0	0	1	0	0
CHGA	1113	broad.mit.edu	37	14	93398731	93398731	+	Silent	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr14:93398731G>A	ENST00000216492.5	+	7	1105	c.825G>A	c.(823-825)ctG>ctA	p.L275L	CHGA_ENST00000334654.4_Silent_p.L124L	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	275					regulation of blood pressure	extracellular region|stored secretory granule				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		CGGAGGCTCTGGCTGTGGATG	0.642000													4	2					0	0	1	0	0
CXorf48	54967	broad.mit.edu	37	X	134292195	134292195	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chrX:134292195A>G	ENST00000344129.2	-	4	692	c.466T>C	c.(466-468)Tcc>Ccc	p.S156P	CXorf48_ENST00000276241.6_Missense_Mutation_p.S156P	NM_017863.2	NP_060333.1	Q8WUE5	CX048_HUMAN	chromosome X open reading frame 48	156										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5	Acute lymphoblastic leukemia(192;0.000127)					GGCTCAGTGGAATATTCAACT	0.413000													20	27					0	0	1	0	0
ECM2	1842	broad.mit.edu	37	9	95285037	95285037	+	Silent	SNP	A	A	G			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr9:95285037A>G	ENST00000344604.5	-	2	261	c.112T>C	c.(112-114)Ttg>Ctg	p.L38L	ECM2_ENST00000444490.2_Silent_p.L38L|ECM2_ENST00000375540.1_Silent_p.L38L|CENPP_ENST00000375587.3_Intron	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	38					cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						CTTTTCCTCAACCTTCTGTGG	0.358000													23	58					0	0	1	0	0
PRLR	5618	broad.mit.edu	37	5	35065985	35065985	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr5:35065985G>A	ENST00000382002.5	-	10	1501	c.1075C>T	c.(1075-1077)Ctt>Ttt	p.L359F	PRLR_ENST00000513753.1_Intron|PRLR_ENST00000310101.5_Intron|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000511486.1_Missense_Mutation_p.L258F|PRLR_ENST00000342362.5_Missense_Mutation_p.L258F|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000348262.3_Intron	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	359					activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TCAGACAAAAGGGAAGGGCTG	0.502000													25	18					0	0	1	0	0
CD1C	911	broad.mit.edu	37	1	158261958	158261958	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr1:158261958G>A	ENST00000368170.3	+	3	692	c.413G>A	c.(412-414)gGa>gAa	p.G138E		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	138					antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					GCTTTCAACGGATTAGATTTA	0.473000													41	68					0	0	1	0	0
RBM46	166863	broad.mit.edu	37	4	155718052	155718052	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr4:155718052C>T	ENST00000510397.1	+	2	327	c.148C>T	c.(148-150)Cca>Tca	p.P50S	RBM46_ENST00000514866.1_Missense_Mutation_p.P50S|RBM46_ENST00000281722.3_Missense_Mutation_p.P50S	NM_001277173.1	NP_001264102.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	50							nucleotide binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				CGGTCCTCCTCCAGGTGTGGA	0.388000													11	24					0	0	1	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18808346	18808346	+	Missense_Mutation	SNP	G	G	A	rs138851325		TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr1:18808346G>A	ENST00000400664.1	+	1	923	c.871G>A	c.(871-873)Gac>Aac	p.D291N		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	291						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CAAGGTGTACGACTACTATGT	0.597000													25	52					0	0	1	0	0
NRG1	3084	broad.mit.edu	37	8	32505384	32505384	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr8:32505384G>A	ENST00000520502.2	+	1	148	c.148G>A	c.(148-150)Gga>Aga	p.G50R	NRG1_ENST00000287845.5_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000341377.5_Intron|NRG1_ENST00000405005.2_Intron|NRG1_ENST00000287840.5_Intron|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000523079.1_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000520407.1_Intron	NM_013959.3	NP_039253.1	Q02297	NRG1_HUMAN	neuregulin 1	0	Ig-like C2-type.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GAGAACCCCTGGACTCGTGGG	0.607000													6	10					0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93822029	93822029	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr11:93822029G>A	ENST00000315765.9	+	12	2197	c.2189G>A	c.(2188-2190)gGg>gAg	p.G730E		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	730					copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CAGCGGTACGGGATGATAAGA	0.522000													18	26					0	0	1	0	0
TCERG1	10915	broad.mit.edu	37	5	145834764	145834764	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr5:145834764C>T	ENST00000296702.5	+	2	243	c.205C>T	c.(205-207)Cgt>Tgt	p.R69C	TCERG1_ENST00000394421.2_Missense_Mutation_p.R69C	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	69	Pro-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCCCTTTGGACGTCCTCCTTT	0.577000													4	113					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55538281	55538281	+	Silent	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr8:55538281C>T	ENST00000220676.1	+	4	1987	c.1839C>T	c.(1837-1839)acC>acT	p.T613T		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	613					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CAGATGCAACCCATTTTTCAA	0.373000													18	37					0	0	1	0	0
OR5T3	390154	broad.mit.edu	37	11	56019770	56019770	+	Missense_Mutation	SNP	C	C	T	rs117125830	byFrequency	TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr11:56019770C>T	ENST00000303059.3	+	1	95	c.95C>T	c.(94-96)cCa>cTa	p.P32L		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TACAGGAATCCACTGAAGAAC	0.353000													15	27					0	0	1	0	0
STATH	6779	broad.mit.edu	37	4	70864190	70864190	+	Silent	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr4:70864190C>T	ENST00000246895.4	+	2	147	c.36C>T	c.(34-36)ctC>ctT	p.L12L	STATH_ENST00000381060.2_Silent_p.L12L	NM_003154.2	NP_003145.1	P02808	STAT_HUMAN	statherin	12					biomineral tissue development|negative regulation of bone mineralization|ossification|saliva secretion	extracellular region	extracellular matrix constituent, lubricant activity|hydroxyapatite binding|protein binding|structural constituent of tooth enamel			lung(2)|skin(1)	3						TCTTGGCTCTCATGGTTTCCA	0.393000													21	32					0	0	1	0	0
ARNT	405	broad.mit.edu	37	1	150788882	150788882	+	Splice_Site	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr1:150788882C>T	ENST00000358595.5	-	19	2003	c.1802_splice	c.e19-1	p.R601_splice	ARNT_ENST00000505755.1_Splice_Site_p.R586_splice|ARNT_ENST00000515192.1_Splice_Site_p.R587_splice|ARNT_ENST00000354396.2_Intron	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	601					positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGCCACTATTCCTAGGAGTGA	0.473000			T	ETV6	AML								13	15					0	0	1	0	0
CLRN1	7401	broad.mit.edu	37	3	150690481	150690481	+	Silent	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr3:150690481C>T	ENST00000327047.1	-	1	305	c.15G>A	c.(13-15)caG>caA	p.Q5Q	RP11-166N6.2_ENST00000469268.1_RNA|CLRN1_ENST00000328863.4_Silent_p.Q5Q|CLRN1-AS1_ENST00000465576.1_RNA|CLRN1-AS1_ENST00000476886.1_RNA	NM_174878.2	NP_777367.1	P58418	CLRN1_HUMAN	clarin 1	5					equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TGATTTTCTTCTGTTGGCTTG	0.493000													11	17					0	0	1	0	0
PDE5A	8654	broad.mit.edu	37	4	120528212	120528212	+	Silent	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr4:120528212C>T	ENST00000354960.3	-	2	712	c.393G>A	c.(391-393)aaG>aaA	p.K131K	PDE5A_ENST00000394439.1_Silent_p.K79K|PDE5A_ENST00000264805.5_Silent_p.K89K	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	131					platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	GCATCTGTTCCTTCTTTTCTG	0.458000													22	35					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100383690	100383690	+	RNA	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr7:100383690G>A	ENST00000542585.1	+	0	7051				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TTCAGTGCGGGGACTTCCGAT	0.582000													34	49					0	0	1	0	0
RBM46	166863	broad.mit.edu	37	4	155749207	155749207	+	Silent	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr4:155749207C>T	ENST00000281722.3	+	5	1825	c.1590C>T	c.(1588-1590)gcC>gcT	p.A530A	RBM46_ENST00000510397.1_3'UTR	NM_144979.3	NP_659416.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	530							nucleotide binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				CCAATCAGGCCTCCTTCTTCT	0.353000													31	57					0	0	1	0	0
ADCY7	113	broad.mit.edu	37	16	50332867	50332867	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr16:50332867C>T	ENST00000394697.2	+	8	1341	c.1001C>T	c.(1000-1002)tCg>tTg	p.S334L	ADCY7_ENST00000566433.2_Missense_Mutation_p.S334L|ADCY7_ENST00000564044.1_3'UTR|ADCY7_ENST00000538642.1_Missense_Mutation_p.S334L|ADCY7_ENST00000537579.1_Missense_Mutation_p.S334L|ADCY7_ENST00000254235.3_Missense_Mutation_p.S334L			P51828	ADCY7_HUMAN	adenylate cyclase 7	334	Guanylate cyclase 1.				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	p.S334L(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	TACTGTGTATCGGGCCTGCCC	0.642000													32	49					0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233394378	233394378	+	Silent	SNP	A	A	G			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr1:233394378A>G	ENST00000258229.8	-	5	1464	c.1230T>C	c.(1228-1230)gcT>gcC	p.A410A	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	410						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)				TAGTGGGCTCAGCGTCAGACT	0.557000													48	61					0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103327038	103327038	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr8:103327038G>A	ENST00000520539.1	-	15	2434	c.1828C>T	c.(1828-1830)Cca>Tca	p.P610S	UBR5_ENST00000220959.4_Missense_Mutation_p.P610S|UBR5_ENST00000521922.1_Missense_Mutation_p.P604S	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	610					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GGAGATGGTGGAGGACCCATT	0.383000													12	21					0	0	1	0	0
NPHP1	4867	broad.mit.edu	37	2	110927431	110927431	+	Silent	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr2:110927431G>A	ENST00000316534.4	-	5	547	c.474C>T	c.(472-474)atC>atT	p.I158I	NPHP1_ENST00000393272.3_Silent_p.I158I|NPHP1_ENST00000355301.4_Silent_p.I96I|NPHP1_ENST00000445609.2_Silent_p.I158I|NPHP1_ENST00000417665.1_Silent_p.I158I			O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	158	SH3.				actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						CTCCAACAGCGATGTATTCTT	0.428000													29	35					0	0	1	0	0
ZNF585B	92285	broad.mit.edu	37	19	37676177	37676177	+	Silent	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr19:37676177G>A	ENST00000532828.2	-	5	2513	c.2262C>T	c.(2260-2262)ggC>ggT	p.G754G	ZNF585B_ENST00000527838.1_3'UTR|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000312908.5_Silent_p.G342G|ZNF585B_ENST00000531805.1_Silent_p.G699G	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	754					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTGAACGAAGCCTTTCCCAC	0.478000													27	55					0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46657221	46657221	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr22:46657221C>T	ENST00000253255.5	-	1	1998	c.1999G>A	c.(1999-2001)Gca>Aca	p.A667T		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	667	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GGAGCCTGTGCGGTGGCATGC	0.433000													29	47					0	0	1	0	0
C11orf82	220042	broad.mit.edu	37	11	82645000	82645000	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr11:82645000C>T	ENST00000533655.1	+	6	2832	c.2620C>T	c.(2620-2622)Cct>Tct	p.P874S	C11orf82_ENST00000329143.3_Missense_Mutation_p.P573S|C11orf82_ENST00000430323.2_Missense_Mutation_p.P874S|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000525361.1_Intron	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN	chromosome 11 open reading frame 82	874					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						AAAAATATTTCCTTCAGATAT	0.418000													21	31					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168678429	168678429	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr5:168678429T>C	ENST00000519560.1	-	2	651	c.232A>G	c.(232-234)Aag>Gag	p.K78E	SLIT3_ENST00000404867.3_Missense_Mutation_p.K78E|SLIT3_ENST00000521130.1_5'UTR|SLIT3_ENST00000332966.8_Missense_Mutation_p.K78E	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	78					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|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAGTCCATCTTGGTGATCCTG	0.418000													9	33					0	0	1	0	0
PACSIN3	29763	broad.mit.edu	37	11	47200523	47200523	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr11:47200523G>A	ENST00000539589.1	-	9	1301	c.959C>T	c.(958-960)cCt>cTt	p.P320L	PACSIN3_ENST00000298838.6_Missense_Mutation_p.P320L	NM_001184975.1	NP_001171904.1	Q9UKS6	PACN3_HUMAN	protein kinase C and casein kinase substrate in neurons 3	320					endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis	cytoplasm|plasma membrane	cytoskeletal protein binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						AACCTCATCAGGGCTCCGGCC	0.627000													30	51					0	0	1	0	0
SOS2	6655	broad.mit.edu	37	14	50625331	50625331	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr14:50625331T>G	ENST00000216373.5	-	11	2160	c.1886A>C	c.(1885-1887)tAt>tCt	p.Y629S	SOS2_ENST00000543680.1_Missense_Mutation_p.Y596S|SOS2_ENST00000555794.1_5'UTR	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	629	N-terminal Ras-GEF.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					AAATGAACGATATGTGGTAAG	0.303000													18	34					0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50294350	50294350	+	Splice_Site	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr15:50294350C>T	ENST00000284509.6	-	8	647	c.506_splice	c.e8+1	p.G169_splice	ATP8B4_ENST00000558959.1_5'UTR|ATP8B4_ENST00000559829.1_Splice_Site_p.G169_splice	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	169					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		AATAACTTACCCATCAAGCTC	0.308000													3	11					0	0	1	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138417772	138417772	+	Silent	SNP	C	C	G			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr7:138417772C>G	ENST00000310018.2	-	17	2040	c.1758G>C	c.(1756-1758)ctG>ctC	p.L586L	ATP6V0A4_ENST00000393054.1_Silent_p.L586L|ATP6V0A4_ENST00000353492.4_Silent_p.L586L	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	586					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GGTATCCAAACAGACACAGGA	0.428000													22	32					0	0	1	0	0
NCAM1	4684	broad.mit.edu	37	11	113076866	113076866	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr11:113076866G>A	ENST00000316851.7	+	4	562	c.562G>A	c.(562-564)Gag>Aag	p.E188K	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000533760.1_Missense_Mutation_p.E80K|NCAM1_ENST00000401611.2_Missense_Mutation_p.E197K	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	198	Ig-like C2-type 2.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GGCACGGGGGGAGATCAACTT	0.493000													32	55					0	0	1	0	0
ANXA4	307	broad.mit.edu	37	2	70052642	70052642	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr2:70052642G>A	ENST00000394295.4	+	13	1209	c.961G>A	c.(961-963)Gat>Aat	p.D321N	ANXA4_ENST00000536030.1_Missense_Mutation_p.D237N|ANXA4_ENST00000409920.1_Missense_Mutation_p.D299N	NM_001153.3	NP_001144.1	P09525	ANXA4_HUMAN	annexin A4	319					anti-apoptosis|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11						TGGAGGAGATGATTAAAATAA	0.343000													14	15					0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62858828	62858828	+	Silent	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr20:62858828G>A	ENST00000536311.1	+	17	3034	c.2670G>A	c.(2668-2670)cgG>cgA	p.R890R	MYT1_ENST00000328439.1_Silent_p.R863R|MYT1_ENST00000360149.4_Silent_p.R542R			Q01538	MYT1_HUMAN	myelin transcription factor 1	863					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CTTCACACCGGAGGTGAGCCT	0.602000													6	13					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123270690	123270690	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr4:123270690G>A	ENST00000264501.4	+	79	13897	c.13524G>A	c.(13522-13524)atG>atA	p.M4508I	KIAA1109_ENST00000388738.3_Missense_Mutation_p.M4508I			Q2LD37	K1109_HUMAN	KIAA1109	4508					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TTGATTACATGGGCTCAAGTA	0.368000													6	18					0	0	1	0	0
FMO2	2327	broad.mit.edu	37	1	171173094	171173094	+	Missense_Mutation	SNP	C	C	T	rs145420492		TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr1:171173094C>T	ENST00000441535.1	+	6	835	c.718C>T	c.(718-720)Cgt>Tgt	p.R240C	RP1-127D3.4_ENST00000422841.1_RNA|FMO2_ENST00000209929.7_Missense_Mutation_p.R240C|RP1-45C12.1_ENST00000455124.1_RNA|RP1-127D3.4_ENST00000445290.1_RNA|FMO2_ENST00000529935.1_3'UTR|RP1-127D3.4_ENST00000445909.1_RNA	NM_001460.2	NP_001451.1	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2 (non-functional)	240					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	p.R240C(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CACCCGGTTTCGTTCTATGCT	0.488000													16	29					0	0	1	0	0
OR4N2	390429	broad.mit.edu	37	14	20296445	20296445	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr14:20296445C>T	ENST00000315947.1	+	1	838	c.838C>T	c.(838-840)Cct>Tct	p.P280S	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGTGATTTTTCCTTTGTTGAA	0.438000													16	32					0	0	1	0	0
IL25	64806	broad.mit.edu	37	14	23844835	23844835	+	Splice_Site	SNP	T	T	C			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr14:23844835T>C	ENST00000329715.2	+	2	538	c.278_splice	c.e2-1	p.L94_splice	IL25_ENST00000397242.2_Splice_Site_p.L78_splice	NM_022789.3	NP_073626.1	Q9H293	IL25_HUMAN	interleukin 25	94					inflammatory response	extracellular space|membrane	cytokine activity|interleukin-17E receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)		CCCCCACAGGTTGGACAGAGA	0.637000													57	121					0	0	1	0	0
ZDHHC6	64429	broad.mit.edu	37	10	114202024	114202024	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr10:114202024G>A	ENST00000369405.3	-	4	868	c.445C>T	c.(445-447)Ctt>Ttt	p.L149F	ZDHHC6_ENST00000369404.3_Missense_Mutation_p.L145F	NM_022494.1	NP_071939.1	Q9H6R6	ZDHC6_HUMAN	zinc finger, DHHC-type containing 6	149						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Colorectal(252;0.198)		Epithelial(162;0.0291)|all cancers(201;0.117)		GGTGCTAAAAGGAGAAACAGT	0.378000													8	1					0	0	1	0	0
CHRDL1	91851	broad.mit.edu	37	X	109924822	109924822	+	Silent	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chrX:109924822C>T	ENST00000218054.4	-	10	1234	c.1038G>A	c.(1036-1038)acG>acA	p.T346T	CHRDL1_ENST00000434224.1_Silent_p.T267T|CHRDL1_ENST00000394797.4_Silent_p.T346T|CHRDL1_ENST00000372042.1_Silent_p.T348T|CHRDL1_ENST00000444321.2_Silent_p.T347T|CHRDL1_ENST00000482160.1_Silent_p.T268T|CHRDL1_ENST00000372045.1_Silent_p.T340T	NM_001143981.1|NM_001143982.1|NM_145234.3	NP_001137453.1|NP_001137454.1|NP_660277.2	Q9BU40	CRDL1_HUMAN	chordin-like 1	340					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						ACACAGGCATCGTTTCTTCCC	0.458000													40	64					0	0	1	0	0
KIF27	55582	broad.mit.edu	37	9	86482655	86482655	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr9:86482655C>T	ENST00000297814.2	-	13	3021	c.2878G>A	c.(2878-2880)Gag>Aag	p.E960K	RP11-575L7.4_ENST00000591217.1_RNA|RP11-575L7.4_ENST00000589233.1_RNA|RP11-575L7.4_ENST00000590368.1_RNA|RP11-575L7.4_ENST00000586211.1_RNA|RP11-575L7.4_ENST00000589817.1_RNA|KIF27_ENST00000334204.2_Intron|RP11-575L7.4_ENST00000421734.3_RNA|KIF27_ENST00000413982.1_Missense_Mutation_p.E894K	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	960					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						AACAGAGCCTCCTTCTTAGAA	0.403000													20	42					0	0	1	0	0
GPC4	2239	broad.mit.edu	37	X	132473317	132473317	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chrX:132473317C>T	ENST00000370828.3	-	2	737	c.213G>A	c.(211-213)atG>atA	p.M71I	GPC4_ENST00000535467.1_Start_Codon_SNP_p.M1I	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	71					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					ACTTCTCCTCCATCTCTTGAG	0.418000													21	25					0	0	1	0	0
DPM1	8813	broad.mit.edu	37	20	49565190	49565190	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr20:49565190G>T	ENST00000371582.4	-	3	302	c.271C>A	c.(271-273)Cca>Aca	p.P91T	DPM1_ENST00000466152.1_5'UTR|DPM1_ENST00000371583.5_Missense_Mutation_p.P91T|DPM1_ENST00000371588.5_Missense_Mutation_p.P91T			O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit	91					C-terminal protein lipidation|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|protein N-linked glycosylation via asparagine|protein O-linked mannosylation	dolichol-phosphate-mannose synthase complex|endoplasmic reticulum membrane|membrane fraction	dolichyl-phosphate beta-D-mannosyltransferase activity|dolichyl-phosphate-mannose-protein mannosyltransferase activity|protein binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						TTCTCTCGTGGTCTTAGAAGC	0.368000													15	28					0.000308642	0.000310494	1	1	0
ACSM3	6296	broad.mit.edu	37	16	20787246	20787246	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr16:20787246C>T	ENST00000289416.5	+	3	780	c.305C>T	c.(304-306)tCt>tTt	p.S102F	ACSM3_ENST00000440284.2_Missense_Mutation_p.S102F|ACSM3_ENST00000450120.2_Missense_Mutation_p.S57F	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	102					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						GAACTGGGATCTCTGTCCAGA	0.458000													31	51					0	0	1	0	0
HTR1D	3352	broad.mit.edu	37	1	23520477	23520477	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr1:23520477G>A	ENST00000374619.1	-	1	745	c.236C>T	c.(235-237)tCc>tTc	p.S79F	HTR1D_ENST00000314113.3_Missense_Mutation_p.S79F	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	79					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GGTGGCCAGGGAGCCAATCAG	0.537000													26	61					0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17743617	17743617	+	Silent	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr19:17743617G>A	ENST00000428389.2	-	29	3665	c.3666C>T	c.(3664-3666)ttC>ttT	p.F1222F	UNC13A_ENST00000551649.1_Silent_p.F1134F|UNC13A_ENST00000550896.1_Silent_p.F1132F|UNC13A_ENST00000552293.1_Silent_p.F1134F|UNC13A_ENST00000519716.2_Silent_p.F1134F|UNC13A_ENST00000252773.7_Silent_p.F1134F			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1134	MHD1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CGCGGTCCTTGAAGGCGGGAA	0.542000													13	35					0	0	1	0	0
CWH43	80157	broad.mit.edu	37	4	48996765	48996765	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr4:48996765G>A	ENST00000226432.4	+	5	824	c.641G>A	c.(640-642)gGa>gAa	p.G214E	CWH43_ENST00000513409.1_Missense_Mutation_p.G187E	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	214					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						TGGGTTTTTGGAGAAGTCTCT	0.542000													36	47					0	0	1	0	0
LOC645166	645166	broad.mit.edu	37	1	148932909	148932909	+	RNA	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr1:148932909C>T	ENST00000539543.1	+	0	165					NR_027355.1																						GGCCAAGACTCCGTCCTGCAA	0.607000													8	101					0	0	1	0	0
C16orf59	80178	broad.mit.edu	37	16	2511175	2511175	+	Silent	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr16:2511175C>T	ENST00000569496.1	+	4	614	c.555C>T	c.(553-555)gcC>gcT	p.A185A	C16orf59_ENST00000483320.1_Silent_p.A18A|C16orf59_ENST00000361837.4_Silent_p.A185A|C16orf59_ENST00000563531.1_Silent_p.A185A			Q7L2K0	CP059_HUMAN	chromosome 16 open reading frame 59	185										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				AGCAAATGGCCCCATCCGCTG	0.662000													7	9					0	0	1	0	0
PALD1	27143	broad.mit.edu	37	10	72307181	72307181	+	Silent	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr10:72307181C>T	ENST00000263563.6	+	18	2509	c.2241C>T	c.(2239-2241)atC>atT	p.I747I		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1																		TGCGGGAGATCATCATCTGCA	0.652000													24	12					0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20739463	20739463	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr7:20739463G>A	ENST00000404938.2	+	18	2822	c.2170G>A	c.(2170-2172)Gat>Aat	p.D724N	ABCB5_ENST00000258738.6_Missense_Mutation_p.D279N	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	279	ABC transporter 2.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TGGAAATAATGATAAAACCAC	0.303000													10	19					0	0	1	0	0
LRG1	116844	broad.mit.edu	37	19	4537995	4537995	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr19:4537995G>A	ENST00000306390.6	-	2	1461	c.1001C>T	c.(1000-1002)gCc>gTc	p.A334V	CTB-50L17.14_ENST00000586020.1_Intron	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	334	LRRCT.					extracellular region|membrane				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCTTCACGGCTTCAGGCCC	0.582000													16	19					0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220338526	220338526	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr2:220338526C>T	ENST00000312358.7	+	18	4480	c.4348C>T	c.(4348-4350)Cgg>Tgg	p.R1450W	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1450	Ig-like 7.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GTACTGTCTTCGGATCTGCCG	0.657000													56	93					0	0	1	0	0
SIVA1	10572	broad.mit.edu	37	14	105222013	105222013	+	Silent	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr14:105222013C>T	ENST00000329967.6	+	2	267	c.165C>T	c.(163-165)gaC>gaT	p.D55D	SIVA1_ENST00000347067.5_Intron	NM_006427.3	NP_006418.2	O15304	SIVA_HUMAN	SIVA1, apoptosis-inducing factor	55	Interaction with BCL2L1 isoform Bcl-x(L) and inhibition of BCL2L1 anti-apoptotic activity.				activation of caspase activity by cytochrome c|activation-induced cell death of T cells|apoptosis|induction of apoptosis|interspecies interaction between organisms|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity	cytoplasm|mitochondrion|nucleoplasm|nucleus	caspase activator activity|CD27 receptor binding|metal ion binding|viral receptor activity|zinc ion binding			large_intestine(1)|lung(1)|prostate(1)	3		all_cancers(154;0.14)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.173)		CCTACCTGGACCACGTGTGGG	0.607000													23	47					0	0	1	0	0
OVCH1	341350	broad.mit.edu	37	12	29624844	29624844	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr12:29624844G>A	ENST00000318184.5	-	16	1746	c.1747C>T	c.(1747-1749)Ccc>Tcc	p.P583S	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	583	Peptidase S1 2.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CAACAGTGGGGGCAGGCTTCT	0.537000													12	13					0	0	1	0	0
IGLV3-16	28799	broad.mit.edu	37	22	23090175	23090175	+	RNA	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr22:23090175G>A	ENST00000390311.2	+	0	152																											AGATGGCCAGGATCACCTGCT	0.522000													21	46					0	0	1	0	0
CCDC176	80127	broad.mit.edu	37	14	74514754	74514754	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr14:74514754C>T	ENST00000394009.3	+	7	892	c.769C>T	c.(769-771)Cat>Tat	p.H257Y	CCDC176_ENST00000553773.1_5'UTR|AC005484.5_ENST00000492026.1_RNA|CCDC176_ENST00000489323.1_3'UTR	NM_025057.2	NP_079333.2			coiled-coil domain containing 176																		GCAAGAGAGTCATACTTTACT	0.348000													16	14					0	0	1	0	0
KIF27	55582	broad.mit.edu	37	9	86506413	86506413	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr9:86506413C>T	ENST00000297814.2	-	6	1749	c.1606G>A	c.(1606-1608)Gaa>Aaa	p.E536K	KIF27_ENST00000334204.2_Missense_Mutation_p.E536K|KIF27_ENST00000413982.1_Missense_Mutation_p.E536K	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	536					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						ATTATTTTTTCATTCTTTGTA	0.284000													9	7					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883353	228883353	+	Silent	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr2:228883353C>T	ENST00000392056.3	-	7	2263	c.2217G>A	c.(2215-2217)aaG>aaA	p.K739K	SPHKAP_ENST00000344657.5_Silent_p.K739K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	739						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TGATGGTCTCCTTAGAAAGGA	0.473000													34	62					0	0	1	0	0
WDR18	57418	broad.mit.edu	37	19	994337	994337	+	Silent	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr19:994337C>T	ENST00000251289.5	+	10	1316	c.1293C>T	c.(1291-1293)gcC>gcT	p.A431A	WDR18_ENST00000587001.2_Silent_p.A408A	NM_024100.3	NP_077005.2	Q9BV38	WDR18_HUMAN	WD repeat domain 18	431										endometrium(1)|kidney(2)|lung(2)|skin(2)	7		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCGGCCGGCCAAGTGAGGCC	0.711000													8	14					0	0	1	0	0
SLC22A2	6582	broad.mit.edu	37	6	160668298	160668298	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr6:160668298G>A	ENST00000366952.1	-	7	2293	c.812C>T	c.(811-813)tCc>tTc	p.S271F	SLC22A2_ENST00000491092.1_5'UTR|SLC22A2_ENST00000366953.3_Missense_Mutation_p.S292F			O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	292					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		CTTATTCTGGGAGATCAGCCA	0.488000													24	12					0	0	1	0	0
FAM221B	392307	broad.mit.edu	37	9	35826156	35826156	+	Translation_Start_Site	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr9:35826156C>T	ENST00000423537.2	-	2	272	c.3G>A	c.(1-3)atG>atA	p.M1I	TMEM8B_ENST00000377996.1_Intron	NM_001012446.3	NP_001012448.2	A6H8Z2	CI128_HUMAN	family with sequence similarity 221, member B	1										endometrium(2)|kidney(1)|lung(4)	7						CATGTGCTTCCATCTAGTGGT	0.507000											OREG0019180	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	21					0	0	1	0	0
NPC1	4864	broad.mit.edu	37	18	21136463	21136463	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr18:21136463G>A	ENST00000269228.5	-	8	1624	c.1070C>T	c.(1069-1071)tCg>tTg	p.S357L	NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Missense_Mutation_p.S107L	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	357					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GAAGACCAGCGAGAAGAAAAT	0.587000													6	16					0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46859827	46859827	+	Silent	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr22:46859827G>A	ENST00000262738.3	-	2	3959	c.3960C>T	c.(3958-3960)tcC>tcT	p.S1320S	CELSR1_ENST00000395964.1_Silent_p.S1320S	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1320	EGF-like 1; calcium-binding.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		ATCGCAGAACGGACACGCACT	0.662000													14	34					0	0	1	0	0
CDR1	1038	broad.mit.edu	37	X	139866023	139866023	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chrX:139866023C>T	ENST00000370532.2	-	1	700	c.509G>A	c.(508-510)gGa>gAa	p.G170E		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	170	6 X 6 AA approximate repeats.							p.G170E(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				TCCAGAAAATCCACGTCTTCC	0.433000													67	131					0	0	1	0	0
SLC28A2	9153	broad.mit.edu	37	15	45556932	45556932	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr15:45556932A>G	ENST00000347644.3	+	7	733	c.668A>G	c.(667-669)tAt>tGt	p.Y223C	CTD-2651B20.3_ENST00000561404.1_RNA|CTD-2651B20.3_ENST00000560344.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	223					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		GATCTTGGATATACTGTATTT	0.428000													12	40					0	0	1	0	0
NPR2	4882	broad.mit.edu	37	9	35792814	35792814	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr9:35792814C>T	ENST00000342694.2	+	1	664	c.409C>T	c.(409-411)Cgt>Tgt	p.R137C		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	137					intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	TGACCATTATCGTACCCTGGT	0.602000													30	45					0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59217413	59217413	+	Silent	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr18:59217413G>A	ENST00000262717.4	+	11	2249	c.1851G>A	c.(1849-1851)ttG>ttA	p.L617L	CDH20_ENST00000538374.1_Silent_p.L617L|CDH20_ENST00000536675.2_Silent_p.L617L			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	617					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				CAGTCAGTTTGAGCCGGGGCG	0.592000													25	30					0	0	1	0	0
GPRC6A	222545	broad.mit.edu	37	6	117114236	117114236	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr6:117114236C>T	ENST00000310357.3	-	6	1871	c.1850G>A	c.(1849-1851)aGa>aAa	p.R617K	GPRC6A_ENST00000530250.1_Missense_Mutation_p.R442K|GPRC6A_ENST00000368549.3_Missense_Mutation_p.R546K	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	617					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GTTCAGGTTTCTTGTAAATAT	0.428000													29	10					0	0	1	0	0
NRG1	3084	broad.mit.edu	37	8	32505385	32505385	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr8:32505385G>A	ENST00000520502.2	+	1	149	c.149G>A	c.(148-150)gGa>gAa	p.G50E	NRG1_ENST00000287845.5_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000341377.5_Intron|NRG1_ENST00000405005.2_Intron|NRG1_ENST00000287840.5_Intron|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000523079.1_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000520407.1_Intron	NM_013959.3	NP_039253.1	Q02297	NRG1_HUMAN	neuregulin 1	0	Ig-like C2-type.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	p.G50E(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		AGAACCCCTGGACTCGTGGGC	0.602000													6	10					0	0	1	0	0
USP20	10868	broad.mit.edu	37	9	132640700	132640700	+	Silent	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr9:132640700C>T	ENST00000315480.4	+	23	2651	c.2493C>T	c.(2491-2493)ttC>ttT	p.F831F	USP20_ENST00000358355.1_Silent_p.F831F|USP20_ENST00000372429.3_Silent_p.F831F			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	831	DUSP 2.				endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				GGGAGGCGTTCGTCAAGGGGA	0.662000													8	6					0	0	1	0	0
PLA2G4A	5321	broad.mit.edu	37	1	186925345	186925345	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr1:186925345A>T	ENST00000367466.3	+	14	1600	c.1448A>T	c.(1447-1449)gAa>gTa	p.E483V	PLA2G4A_ENST00000442353.2_Missense_Mutation_p.E423V	NM_024420.2	NP_077734.1	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	483	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	AATACCAGAGAAGGACGTGCT	0.428000													25	31					0	0	1	0	0
SYT3	84258	broad.mit.edu	37	19	51132756	51132756	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr19:51132756G>A	ENST00000338916.4	-	4	1709	c.1076C>T	c.(1075-1077)aCc>aTc	p.T359I	SYT3_ENST00000600079.1_Missense_Mutation_p.T359I|SYT3_ENST00000593901.1_Missense_Mutation_p.T359I|SYT3_ENST00000544769.1_Missense_Mutation_p.T359I	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	359	C2 1.					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		GGGGTTCAGGGTCTTCCTGTG	0.607000													8	15					0	0	1	0	0
GPR148	344561	broad.mit.edu	37	2	131487206	131487206	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr2:131487206C>T	ENST00000309926.4	+	1	564	c.482C>T	c.(481-483)tCc>tTc	p.S161F		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	161						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					TCCTTCATGTCCCATGGGGCT	0.607000													9	25					0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154396482	154396482	+	Silent	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr5:154396482C>T	ENST00000435029.4	+	1	3223	c.3063C>T	c.(3061-3063)atC>atT	p.I1021I		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1021	Globular (By similarity).|Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTGAATATATCCCACCTAAGC	0.408000													26	56					0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	55922446	55922446	+	Silent	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr3:55922446C>T	ENST00000288221.6	-	14	2790	c.2535G>A	c.(2533-2535)agG>agA	p.R845R		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	845						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CCAGCTGTTTCCTCCTCTCAA	0.557000													40	78					0	0	1	0	0
NLGN4X	57502	broad.mit.edu	37	X	5821259	5821259	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chrX:5821259G>A	ENST00000381095.3	-	5	2087	c.1460C>T	c.(1459-1461)tCg>tTg	p.S487L	NLGN4X_ENST00000381092.1_Missense_Mutation_p.S487L|NLGN4X_ENST00000275857.6_Missense_Mutation_p.S487L|NLGN4X_ENST00000381093.2_Missense_Mutation_p.S507L|NLGN4X_ENST00000538097.1_Missense_Mutation_p.S487L	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	487					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						ACCATGGGCCGAATCTGCCCA	0.572000													18	42					0	0	1	0	0
FOXK1	221937	broad.mit.edu	37	7	4722446	4722446	+	Silent	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr7:4722446C>T	ENST00000328914.4	+	1	507	c.507C>T	c.(505-507)ttC>ttT	p.F169F	FOXK1_ENST00000446823.1_Intron	NM_001037165.1	NP_001032242.1	P85037	FOXK1_HUMAN	forkhead box K1	169	FHA.				cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		ACGGCGTCTTCGTGGACGGGG	0.721000													6	4					0	0	1	0	0
WDR78	79819	broad.mit.edu	37	1	67313308	67313308	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr1:67313308G>A	ENST00000371026.3	-	8	1205	c.1150C>T	c.(1150-1152)Cat>Tat	p.H384Y	WDR78_ENST00000431318.1_Missense_Mutation_p.H130Y|WDR78_ENST00000371023.3_Missense_Mutation_p.H384Y	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	384										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						TCATCTTCATGGATTTTTGCC	0.303000													5	19					0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46652735	46652735	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr22:46652735A>T	ENST00000253255.5	-	1	6484	c.6485T>A	c.(6484-6486)gTc>gAc	p.V2162D		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	2162					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GTTGATCAAGACGCAGATCAT	0.438000													14	24					0	0	1	0	0
LHFP	10186	broad.mit.edu	37	13	40175213	40175213	+	Silent	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr13:40175213G>A	ENST00000379589.3	-	2	603	c.141C>T	c.(139-141)ttC>ttT	p.F47F		NM_005780.2	NP_005771.1	Q9Y693	LHFP_HUMAN	lipoma HMGIC fusion partner	47						integral to membrane	DNA binding		HMGA2/LHFP(2)	breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)		AGCACCTCCGGAAGGTACCGA	0.572000			T	HMGA2	lipoma								58	85					0	0	1	0	0
CNR2	1269	broad.mit.edu	37	1	24201640	24201640	+	Silent	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr1:24201640G>A	ENST00000536471.1	-	3	726	c.468C>T	c.(466-468)atC>atT	p.I156I	CNR2_ENST00000374472.4_Silent_p.I156I			P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	156					behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Nabilone(DB00486)	GGACCCACATGATGCCCAGGG	0.592000													21	28					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31325072	31325072	+	Silent	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr18:31325072C>T	ENST00000269197.5	+	12	5260	c.5260C>T	c.(5260-5262)Cta>Tta	p.L1754L		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1754					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GACGCAGTTACTACAGGGCAA	0.537000													17	21					0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107924123	107924123	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chrX:107924123G>A	ENST00000328300.6	+	46	4268	c.4024G>A	c.(4024-4026)Gga>Aga	p.G1342R	COL4A5_ENST00000361603.2_Missense_Mutation_p.G1336R	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1336	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						AGGCATGAAAGGACCCAGTGG	0.478000									Alport syndrome with Diffuse Leiomyomatosis				41	61					0	0	1	0	0
RP11-481J13.1	0	broad.mit.edu	37	2	56227909	56227909	+	RNA	SNP	C	C	T			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr2:56227909C>T	ENST00000606639.1	+	0	82				AC011306.2_ENST00000446139.1_lincRNA|MIR216B_ENST00000390186.2_RNA																							TCACATTTGCCTGCAGAGATT	0.373000													4	7					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45262037	45262037	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr5:45262037C>A	ENST00000303230.4	-	8	2716	c.2659G>T	c.(2659-2661)Gct>Tct	p.A887S		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	887						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AAATTTGAAGCAAATCGTGGC	0.438000													20	68					1.50039e-11	1.53706e-11	1	1	0
FSIP2	401024	broad.mit.edu	37	2	186670303	186670304	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EB-A44P-01A-11D-A25O-08	TCGA-EB-A44P-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77A19094-38BA-447D-97C4-C5DBD1A69EE5	0419302F-D132-4175-B701-5736AEDC0B8E	g.chr2:186670303_186670304insA	ENST00000343098.5	+	17	16537_16538	c.16537_16538insA	c.(16537-16539)aaafs	p.K5513fs	FSIP2_ENST00000424728.1_Frame_Shift_Ins_p.K5424fs	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						ACACCTACCACAAAACACCTTT	0.376													20	43	---	---	---	---