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
PRUNE2	158471	broad.mit.edu	37	9	79321790	79321790	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr9:79321790C>T	ENST00000428286.1	-	8	5523	c.4323G>A	c.(4321-4323)tgG>tgA	p.W1441*	PRUNE2_ENST00000376718.3_Nonsense_Mutation_p.W1800*			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1800					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GAGATATTTGCCATGCAACAT	0.468000													7	4					0	0	1	0	0
PLA2G6	8398	broad.mit.edu	37	22	38509602	38509602	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr22:38509602G>A	ENST00000332509.3	-	15	2277	c.2094C>T	c.(2092-2094)tcC>tcT	p.S698S	PLA2G6_ENST00000335539.3_Silent_p.S644S|PLA2G6_ENST00000402064.1_Silent_p.S644S	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	698					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	GCACTTGTGGGGACCTCCCTG	0.582000													33	96					0	0	1	0	0
SLC35D3	340146	broad.mit.edu	37	6	137245829	137245829	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr6:137245829C>T	ENST00000331858.4	+	2	1411	c.1246C>T	c.(1246-1248)Cct>Tct	p.P416S		NM_001008783.1	NP_001008783.1	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	416					carbohydrate transport	integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		GTTACCCAGTCCTTGAGAAGG	0.408000													41	13					0	0	1	0	0
BNC1	646	broad.mit.edu	37	15	83933264	83933264	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr15:83933264G>A	ENST00000345382.2	-	4	824	c.739C>T	c.(739-741)Cag>Tag	p.Q247*	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Nonsense_Mutation_p.Q240*	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	247	Hydrophobic.				epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						TTGAAGAACTGGAAAGGCAGC	0.502000													72	9					0	0	1	0	0
ACSM5	54988	broad.mit.edu	37	16	20439127	20439127	+	Silent	SNP	G	G	A	rs12922063		TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr16:20439127G>A	ENST00000331849.4	+	7	1086	c.939G>A	c.(937-939)ccG>ccA	p.P313P		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	313					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						CCAAATTCCCGATAACCACCC	0.473000													96	46					0	0	1	0	0
OR4A16	81327	broad.mit.edu	37	11	55111082	55111082	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:55111082C>T	ENST00000314721.2	+	1	456	c.406C>T	c.(406-408)Cga>Tga	p.R136*		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						CATCATGAATCGACTGGTTTG	0.473000													79	85					0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	132021841	132021841	+	Missense_Mutation	SNP	A	A	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:132021841A>T	ENST00000356920.5	+	15	2907	c.2813A>T	c.(2812-2814)aAg>aTg	p.K938M	PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_3'UTR	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	938	Actin-like.						ATP binding										TCCCTAGAGAAGAGCTACGAG	0.617000													11	291					0	0	1	0	0
ZNF567	163081	broad.mit.edu	37	19	37210285	37210285	+	Missense_Mutation	SNP	T	T	G			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:37210285T>G	ENST00000585696.1	+	3	1796	c.566T>G	c.(565-567)cTt>cGt	p.L189R	ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000536254.2_Missense_Mutation_p.L220R|ZNF567_ENST00000360729.4_Missense_Mutation_p.L189R|ZNF567_ENST00000392163.2_Missense_Mutation_p.L189R|ZNF567_ENST00000588311.1_Missense_Mutation_p.L189R			Q8N184	ZN567_HUMAN	zinc finger protein 567	220					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AAATCATTCCTTCAAAGGGGA	0.358000													16	27					0	0	1	0	0
KANK4	163782	broad.mit.edu	37	1	62739765	62739765	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:62739765C>T	ENST00000371153.4	-	3	1389	c.1011G>A	c.(1009-1011)gtG>gtA	p.V337V	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	337										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						TGCCTGGATCCACCCTGGCAA	0.582000													46	80					0	0	1	0	0
APLP2	334	broad.mit.edu	37	11	129993624	129993624	+	Missense_Mutation	SNP	G	G	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:129993624G>T	ENST00000263574.5	+	7	1112	c.1040G>T	c.(1039-1041)aGg>aTg	p.R347M	APLP2_ENST00000528499.1_Intron|APLP2_ENST00000345598.5_Intron|APLP2_ENST00000338167.5_Missense_Mutation_p.R347M|APLP2_ENST00000278756.7_Missense_Mutation_p.R357M|APLP2_ENST00000543137.1_Missense_Mutation_p.R254M|APLP2_ENST00000539648.1_Intron	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	347	BPTI/Kunitz inhibitor.				G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		GGCGGCAACAGGAACAATTTT	0.582000													75	111					5.88917e-42	6.10313e-42	1	1	0
SMARCD3	6604	broad.mit.edu	37	7	150937275	150937275	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:150937275C>T	ENST00000392811.2	-	11	1531	c.1057G>A	c.(1057-1059)Gag>Aag	p.E353K	SMARCD3_ENST00000262188.8_Missense_Mutation_p.E366K|SMARCD3_ENST00000356800.2_Missense_Mutation_p.E353K	NM_003078.3	NP_003069.2	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3	366					cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTTAATGGCTCCTCCACCTCC	0.597000													36	48					0	0	1	0	0
NSFL1C	55968	broad.mit.edu	37	20	1447388	1447388	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr20:1447388C>T	ENST00000216879.4	-	1	949	c.82G>A	c.(82-84)Gag>Aag	p.E28K	RP4-776F14.3_ENST00000553571.1_RNA|NSFL1C_ENST00000476071.1_Missense_Mutation_p.E28K|NSFL1C_ENST00000350991.4_Missense_Mutation_p.E28K|NSFL1C_ENST00000353088.2_Missense_Mutation_p.E28K|NSFL1C_ENST00000381658.4_5'UTR	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	28						chromosome|Golgi stack|nucleus	lipid binding|protein binding			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						CCGGCCGACTCGAGAAAGAAG	0.746000													2	1					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995044	140995044	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chrX:140995044G>A	ENST00000285879.4	+	4	2140	c.1854G>A	c.(1852-1854)ggG>ggA	p.G618G	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	618							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CTCTTCAGGGGGAGGAATTCC	0.567000										HNSCC(15;0.026)			226	95					0	0	1	0	0
ELSPBP1	64100	broad.mit.edu	37	19	48511956	48511956	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:48511956G>A	ENST00000339841.2	+	2	210	c.32G>A	c.(31-33)tGg>tAg	p.W11*	ELSPBP1_ENST00000597519.1_Nonsense_Mutation_p.W11*	NM_022142.4	NP_071425.3	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1	11					single fertilization	extracellular region				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		CTGTTGGGATGGACAACCTTC	0.483000													9	15					0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36702083	36702083	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr22:36702083G>A	ENST00000216181.5	-	17	2282	c.2052C>T	c.(2050-2052)gaC>gaT	p.D684D		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	684	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CGAGATGCGGGTCCAGCTTGC	0.587000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				39	66					0	0	1	0	0
BAIAP2	10458	broad.mit.edu	37	17	79078504	79078504	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:79078504G>A	ENST00000321300.6	+	10	1350	c.1257G>A	c.(1255-1257)gaG>gaA	p.E419E	BAIAP2_ENST00000392411.3_Silent_p.E341E|BAIAP2_ENST00000575712.1_Silent_p.E419E|BAIAP2_ENST00000321280.7_Silent_p.E419E|BAIAP2_ENST00000575245.1_Silent_p.E452E|BAIAP2_ENST00000435091.3_Silent_p.E419E|BAIAP2_ENST00000416299.2_Silent_p.E282E|BAIAP2_ENST00000428708.2_Silent_p.E419E	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	419	SH3.				axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GAGAGAGTGAGAAGACCAAGA	0.612000													4	8					0	0	1	0	0
CLK1	1195	broad.mit.edu	37	2	201726168	201726168	+	Silent	SNP	A	A	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:201726168A>T	ENST00000434813.2	-	3	643	c.309T>A	c.(307-309)tcT>tcA	p.S103S	CLK1_ENST00000321356.4_Silent_p.S61S|CLK1_ENST00000492793.1_5'UTR	NM_001162407.1	NP_001155879.1	P49759	CLK1_HUMAN	CDC-like kinase 1	61					cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						TCTCATTTATAGACCTGCTTT	0.363000													31	50					0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150445796	150445796	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:150445796C>T	ENST00000401000.4	+	10	4359	c.4294C>T	c.(4294-4296)Cct>Tct	p.P1432S	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Missense_Mutation_p.P1458S			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1458	Pro-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CCCATTCTTCCCTCCCAGGTA	0.443000													32	75					0	0	1	0	0
RBBP8NL	140893	broad.mit.edu	37	20	60989555	60989555	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr20:60989555C>T	ENST00000252998.1	-	10	1008	c.852G>A	c.(850-852)ccG>ccA	p.P284P		NM_080833.2	NP_543023.2			RBBP8 N-terminal like																		GGTCCACCTTCGGGGAGAGCT	0.701000													3	5					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110510754	110510754	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr8:110510754C>T	ENST00000378402.5	+	66	10767	c.10663C>T	c.(10663-10665)Cct>Tct	p.P3555S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3555					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TAATGATGATCCTAATATTGA	0.348000										HNSCC(38;0.096)			23	60					0	0	1	0	0
PCDHGA9	56107	broad.mit.edu	37	5	140784475	140784475	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:140784475C>T	ENST00000573521.1	+	1	1956	c.1956C>T	c.(1954-1956)ccC>ccT	p.P652P	PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGGCCAGCCCCCTCTCTCGG	0.607000													33	80					0	0	1	0	0
LPAR4	2846	broad.mit.edu	37	X	78011251	78011251	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chrX:78011251C>T	ENST00000435339.2	+	2	1290	c.885C>T	c.(883-885)atC>atT	p.I295I	LPAR4_ENST00000373301.2_Silent_p.I295I	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	295						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TGTACCCAATCACCTTGTGCC	0.423000													60	17					0	0	1	0	0
ABHD17C	58489	broad.mit.edu	37	15	81042009	81042009	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr15:81042009C>T	ENST00000258884.4	+	2	873	c.746C>T	c.(745-747)aCa>aTa	p.T249I	ABHD17C_ENST00000560609.1_Missense_Mutation_p.T14I|ABHD17C_ENST00000559506.1_3'UTR|ABHD17C_ENST00000558464.1_Intron	NM_021214.1	NP_067037.1			abhydrolase domain containing 17C																		ACCAGGAAAACATACTGCTTT	0.473000													24	26					0	0	1	0	0
RRAGA	10670	broad.mit.edu	37	9	19049678	19049678	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr9:19049678G>A	ENST00000380527.1	+	1	307	c.21G>A	c.(19-21)aaG>aaA	p.K7K		NM_006570.4	NP_006561.1	Q7L523	RRAGA_HUMAN	Ras-related GTP binding A	7					apoptosis|cellular protein localization|cellular response to amino acid stimulus|positive regulation of cytolysis|positive regulation of TOR signaling cascade|virus-host interaction	Golgi apparatus|lysosome|nucleus	GTP binding|phosphoprotein binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(1)	3						CAGCCATGAAGAAAAAGGTGC	0.667000													15	4					0	0	1	0	0
TINAG	27283	broad.mit.edu	37	6	54212204	54212204	+	Missense_Mutation	SNP	G	G	A	rs75755871	by1000genomes	TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr6:54212204G>A	ENST00000259782.4	+	6	884	c.788G>A	c.(787-789)cGa>cAa	p.R263Q		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	263					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			TCTAAGGGTCGATACACGGCC	0.423000													41	39					0	0	1	0	0
NUP188	23511	broad.mit.edu	37	9	131768868	131768868	+	Missense_Mutation	SNP	A	A	G			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr9:131768868A>G	ENST00000372577.2	+	44	5182	c.5161A>G	c.(5161-5163)Aag>Gag	p.K1721E		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1721					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GCCGCAGGGCAAGTCCACCTC	0.612000											OREG0019528	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	81	99					0	0	1	0	0
CAP1	10487	broad.mit.edu	37	1	40535481	40535481	+	Missense_Mutation	SNP	T	T	C			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:40535481T>C	ENST00000372797.3	+	9	1489	c.928T>C	c.(928-930)Tcc>Ccc	p.S310P	CAP1_ENST00000340450.3_Missense_Mutation_p.S309P|CAP1_ENST00000372798.1_Missense_Mutation_p.S309P|CAP1_ENST00000372792.2_Missense_Mutation_p.S310P|CAP1_ENST00000372802.1_Missense_Mutation_p.S309P|CAP1_ENST00000479759.1_3'UTR|CAP1_ENST00000372805.3_Missense_Mutation_p.S310P	NM_001105530.1|NM_006367.3	NP_001099000.1|NP_006358.1	Q01518	CAP1_HUMAN	CAP, adenylate cyclase-associated protein 1 (yeast)	310					activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction	plasma membrane	actin binding			endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AACCAGCCCATCCCCCAAACG	0.522000													8	42					0	0	1	0	0
PDLIM3	27295	broad.mit.edu	37	4	186429591	186429591	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr4:186429591G>A	ENST00000284770.5	-	5	597	c.524C>T	c.(523-525)cCt>cTt	p.P175L	PDLIM3_ENST00000284767.5_3'UTR|PDLIM3_ENST00000284771.6_Intron	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	175						sarcomere	zinc ion binding			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		CATTTCCAAAGGAATGTTAGG	0.463000													23	60					0	0	1	0	0
IGSF9	57549	broad.mit.edu	37	1	159898129	159898129	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:159898129G>A	ENST00000368094.1	-	19	3246	c.3049C>T	c.(3049-3051)Cct>Tct	p.P1017S	IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Missense_Mutation_p.P1001S	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	1017						cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			CTGCCTCGAGGGGCAGCAGGG	0.701000													12	7					0	0	1	0	0
L1TD1	54596	broad.mit.edu	37	1	62675715	62675715	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:62675715G>A	ENST00000498273.1	+	4	1564	c.1269G>A	c.(1267-1269)ggG>ggA	p.G423G		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	423	Glu-rich.									breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						aggcttcagggttggaggagg	0.542000													21	42					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207171013	207171013	+	Silent	SNP	T	T	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:207171013T>A	ENST00000374423.3	+	5	2147	c.1761T>A	c.(1759-1761)gtT>gtA	p.V587V		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	587							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ATTGTGATGTTTCTCTTGAGT	0.413000													19	25					0	0	1	0	0
NDUFB7	4713	broad.mit.edu	37	19	14676960	14676960	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:14676960G>A	ENST00000215565.2	-	3	460	c.399C>T	c.(397-399)ccC>ccT	p.P133P		NM_004146.5	NP_004137.2	P17568	NDUB7_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 7, 18kDa	133					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8					NADH(DB00157)	GGGCCACCTTGGGGTCCACTT	0.637000													6	7					0	0	1	0	0
AR	367	broad.mit.edu	37	X	66931363	66931363	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chrX:66931363G>A	ENST00000374690.3	+	4	2529	c.2005G>A	c.(2005-2007)Gaa>Aaa	p.E669K	AR_ENST00000396044.3_Missense_Mutation_p.E669K|AR_ENST00000396043.2_Missense_Mutation_p.E137K	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	668	Interaction with MYST2.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	TGAAGGCTATGAATGTCAGCC	0.527000									Androgen Insensitivity Syndrome				16	2					0	0	1	0	0
LMCD1	29995	broad.mit.edu	37	3	8590328	8590328	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:8590328C>T	ENST00000157600.3	+	4	694	c.462C>T	c.(460-462)cgC>cgT	p.R154R	LMCD1-AS1_ENST00000439407.1_RNA|LMCD1_ENST00000535732.1_Silent_p.R154R|LMCD1_ENST00000397386.3_Silent_p.R42R|LMCD1_ENST00000454244.1_Silent_p.R81R	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	154	PET.				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		TTTACCGCCGCCGCCAGCTCA	0.562000													53	125					0	0	1	0	0
MATR3	9782	broad.mit.edu	37	5	138657652	138657652	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:138657652C>T	ENST00000394800.2	+	14	2217	c.1668C>T	c.(1666-1668)gcC>gcT	p.A556A	MATR3_ENST00000361059.2_Silent_p.A556A|MATR3_ENST00000510056.1_Silent_p.A556A|MATR3_ENST00000509990.1_Silent_p.A556A|MATR3_ENST00000502499.1_Silent_p.A218A|MATR3_ENST00000394805.3_Silent_p.A556A|MATR3_ENST00000502929.1_Silent_p.A556A|MATR3_ENST00000504203.1_Silent_p.A218A|MATR3_ENST00000503811.1_Silent_p.A268A			P43243	MATR3_HUMAN	matrin 3	556	RRM 2.					nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGAAAAAAGCCCTTTGGTTTC	0.368000													66	64					0	0	1	0	0
GAD2	2572	broad.mit.edu	37	10	26534898	26534898	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr10:26534898G>A	ENST00000376261.3	+	8	1392	c.889G>A	c.(889-891)Gac>Aac	p.D297N	GAD2_ENST00000259271.3_Missense_Mutation_p.D297N	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	297					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	GATTGGAACAGACAGCGTGAT	0.398000													27	9					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158632529	158632529	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:158632529G>A	ENST00000368148.3	-	17	2607	c.2427C>T	c.(2425-2427)atC>atT	p.I809I	SPTA1_ENST00000368147.3_Silent_p.I809I	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	809			I -> V (in dbSNP:rs7547313).		actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CAGTCTCTTGGATCCAGGCCT	0.502000													35	48					0	0	1	0	0
ZNF521	25925	broad.mit.edu	37	18	22804758	22804758	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr18:22804758G>A	ENST00000361524.3	-	4	3272	c.3124C>T	c.(3124-3126)Cac>Tac	p.H1042Y	ZNF521_ENST00000584787.1_Missense_Mutation_p.H822Y|ZNF521_ENST00000538137.2_Missense_Mutation_p.H1042Y	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1042					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TTTTGCATGTGGAACGTCCCA	0.527000			T	PAX5	ALL								37	15					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882025	228882025	+	Missense_Mutation	SNP	G	G	C			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:228882025G>C	ENST00000392056.3	-	7	3591	c.3545C>G	c.(3544-3546)tCt>tGt	p.S1182C	SPHKAP_ENST00000344657.5_Missense_Mutation_p.S1182C	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1182						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)		GGACTGCTTAGAGGGACAGCT	0.542000													50	73					0	0	1	0	0
INSC	387755	broad.mit.edu	37	11	15212338	15212338	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:15212338C>T	ENST00000379554.3	+	6	858	c.812C>T	c.(811-813)cCc>cTc	p.P271L	INSC_ENST00000530161.1_Missense_Mutation_p.P224L|INSC_ENST00000528567.1_Missense_Mutation_p.P224L|INSC_ENST00000424273.1_Missense_Mutation_p.P224L|INSC_ENST00000379556.3_Missense_Mutation_p.P224L|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000525218.1_Missense_Mutation_p.P224L	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	271					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						GAGGGGGCTCCCTTGTGCCGC	0.517000													72	121					0	0	1	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140711938	140711938	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:140711938C>T	ENST00000517417.1	+	1	1687	c.1687C>T	c.(1687-1689)Ctg>Ttg	p.L563L	PCDHGA1_ENST00000378105.3_Silent_p.L563L	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCGAGATCCTGTACCCCGC	0.652000													119	215					0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28827596	28827596	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:28827596C>T	ENST00000422425.2	+	40	2942	c.2898C>T	c.(2896-2898)ttC>ttT	p.F966F	PLB1_ENST00000327757.5_Silent_p.F977F|PLB1_ENST00000541605.1_Intron	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	977	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TGCAGCCCTTCTTCCAGAACA	0.572000													23	42					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	185958690	185958690	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:185958690C>T	ENST00000271588.4	+	21	3348	c.3119C>T	c.(3118-3120)tCa>tTa	p.S1040L	HMCN1_ENST00000367492.2_Missense_Mutation_p.S1040L|HMCN1_ENST00000485744.1_3'UTR	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1040	Ig-like C2-type 7.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.S1040L(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TATGTGGTATCACCTGGAGGA	0.502000													40	69					0	0	1	0	0
SMURF2P1	0	broad.mit.edu	37	17	28935539	28935539	+	RNA	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:28935539C>T	ENST00000578265.1	+	0	192																											CCGTTGTGTTCGTCTTTTTCC	0.368000													14	24					0	0	1	0	0
ZNF404	342908	broad.mit.edu	37	19	44377627	44377627	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:44377627C>T	ENST00000587539.1	-	3	738	c.739G>A	c.(739-741)Gaa>Aaa	p.E247K	ZNF404_ENST00000324394.6_Missense_Mutation_p.E245K	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	247					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				TCCCCACATTCCTTACATTCA	0.383000													40	58					0	0	1	0	0
OR5M8	219484	broad.mit.edu	37	11	56258814	56258814	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:56258814G>A	ENST00000327216.2	-	1	57	c.33C>T	c.(31-33)ttC>ttT	p.F11F		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					CCAGGAGAATGAACTCAGTCA	0.433000													48	74					0	0	1	0	0
TAL1	6886	broad.mit.edu	37	1	47685758	47685758	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:47685758G>A	ENST00000371883.3	-	4	1212	c.636C>T	c.(634-636)ctC>ctT	p.L212L	TAL1_ENST00000459729.1_5'UTR|TAL1_ENST00000371884.2_Silent_p.L210L|TAL1_ENST00000294339.3_Silent_p.L210L			P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	210	Helix-loop-helix motif.				basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						TCAGCTTGCGGAGCTCGGCAA	0.572000			T	"""TRD@, SIL"""	lymphoblastic leukemia/biphasic								39	55					0	0	1	0	0
ALG1	56052	broad.mit.edu	37	16	5127990	5127990	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr16:5127990G>A	ENST00000588623.1	+	7	1479	c.379G>A	c.(379-381)Ggc>Agc	p.G127S	ALG1_ENST00000262374.5_Missense_Mutation_p.G238S|ALG1_ENST00000544428.1_Missense_Mutation_p.G127S			Q9BT22	ALG1_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	238					dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	chitobiosyldiphosphodolichol beta-mannosyltransferase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				CATGAAGCTGGGCAGCATGCA	0.587000													38	17					0	0	1	0	0
EVI5	7813	broad.mit.edu	37	1	93170179	93170179	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:93170179C>T	ENST00000370331.1	-	3	413	c.404G>A	c.(403-405)tGg>tAg	p.W135*	EVI5_ENST00000540033.1_Nonsense_Mutation_p.W135*|EVI5_ENST00000543509.1_Nonsense_Mutation_p.W135*	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	135	Dimerization.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		CCAAAGAATCCAAGAATCTTC	0.378000													37	79					0	0	1	0	0
ODF1	4956	broad.mit.edu	37	8	103572848	103572848	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr8:103572848G>A	ENST00000285402.3	+	2	645	c.489G>A	c.(487-489)tcG>tcA	p.S163S	ODF1_ENST00000518835.1_Intron	NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	163					cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			GCCTTGGATCGAAAAAGTACA	0.493000													35	50					0	0	1	0	0
EYA2	2139	broad.mit.edu	37	20	45630083	45630083	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr20:45630083C>T	ENST00000327619.5	+	3	500	c.126C>T	c.(124-126)gcC>gcT	p.A42A	EYA2_ENST00000357410.3_Silent_p.A42A|EYA2_ENST00000317304.6_Silent_p.A42A	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	42					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				CCAAATCGGCCCCCCTGAGAG	0.483000													32	53					0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71495070	71495070	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:71495070C>T	ENST00000296755.7	+	5	6186	c.5888C>T	c.(5887-5889)aCc>aTc	p.T1963I		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1963						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AGTGAAAAGACCACCAGCCCC	0.473000													81	77					0	0	1	0	0
FKBP6	8468	broad.mit.edu	37	7	72745659	72745659	+	Splice_Site	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:72745659G>A	ENST00000252037.4	+	5	537		c.e5-1		FKBP6_ENST00000431982.2_Splice_Site|FKBP6_ENST00000413573.2_Splice_Site	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa						protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				CTGGTCCTCAGGAGCAGCAAG	0.493000													35	47					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29556483	29556483	+	Splice_Site	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:29556483G>A	ENST00000358273.4	+	21	3233	c.2850_splice	c.e21+1	p.Q950_splice	NF1_ENST00000356175.3_Splice_Site_p.Q950_splice	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	950					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CCCAAGGACAGGTAAAGTGTT	0.343000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			30	68					0	0	1	0	0
CHRM2	1129	broad.mit.edu	37	7	136700965	136700965	+	Silent	SNP	T	T	C			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:136700965T>C	ENST00000445907.2	+	3	1881	c.1353T>C	c.(1351-1353)ttT>ttC	p.F451F	AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000598184.1_RNA|CHRM2_ENST00000397608.3_Silent_p.F451F|CHRM2_ENST00000402486.3_Silent_p.F451F|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000401861.1_Silent_p.F451F|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000320658.5_Silent_p.F451F|CHRM2_ENST00000453373.1_Silent_p.F451F	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	451					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	AGAAGACCTTTAAACACCTTC	0.413000													61	73					0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48371849	48371849	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:48371849G>A	ENST00000380518.3	-	44	3219	c.3055C>T	c.(3055-3057)Cct>Tct	p.P1019S	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.P950S	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1019	Triple-helical region.		Missing (in hypochondrogenesis).		axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	ACGGGGCCAGGAGGACCTCTG	0.647000													20	22					0	0	1	0	0
GCLC	2729	broad.mit.edu	37	6	53380952	53380952	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr6:53380952G>A	ENST00000229416.6	-	4	998	c.515C>T	c.(514-516)tCc>tTc	p.S172F	GCLC_ENST00000514004.1_Missense_Mutation_p.S172F	NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	172					anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	AAAGAAGAGGGACTTGGAAGC	0.478000													22	71					0	0	1	0	0
KIAA1407	57577	broad.mit.edu	37	3	113753770	113753770	+	Splice_Site	SNP	A	A	G			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:113753770A>G	ENST00000295878.3	-	6	965		c.e6+1		KIAA1407_ENST00000545063.1_Splice_Site	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407											endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						ACACTGGCTTACATTTTCCAT	0.428000													54	120					0	0	1	0	0
CIB2	10518	broad.mit.edu	37	15	78403582	78403582	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr15:78403582G>A	ENST00000258930.3	-	3	451	c.123C>T	c.(121-123)ctC>ctT	p.L41L	CIB2_ENST00000560618.1_5'UTR|CIB2_ENST00000557846.1_Intron|CIB2_ENST00000539011.1_5'UTR	NM_006383.2	NP_006374.1	O75838	CIB2_HUMAN	calcium and integrin binding family member 2	41							calcium ion binding	p.L41L(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						CCATTGGGACGAGGTTGGGGG	0.607000													79	17					0	0	1	0	0
SYT9	143425	broad.mit.edu	37	11	7335133	7335133	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:7335133G>A	ENST00000318881.6	+	3	1242	c.1005G>A	c.(1003-1005)agG>agA	p.R335R	SYT9_ENST00000396716.2_Silent_p.R303R	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	335						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		ATTTCCCCAGGGAGTGCATCC	0.468000													73	80					0	0	1	0	0
MEMO1	51072	broad.mit.edu	37	2	32093518	32093518	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:32093518G>A	ENST00000295065.4	-	9	1115	c.806C>T	c.(805-807)tCg>tTg	p.S269L	MEMO1_ENST00000490459.1_5'UTR|DPY30_ENST00000446765.1_5'UTR|MEMO1_ENST00000426310.2_Missense_Mutation_p.S246L|MEMO1_ENST00000404530.1_Missense_Mutation_p.S269L|MEMO1_ENST00000379383.3_Missense_Mutation_p.S272L	NM_015955.2	NP_057039.1	Q9Y316	MEMO1_HUMAN	mediator of cell motility 1	269					regulation of microtubule-based process	cytosol|nucleus				NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	17	Acute lymphoblastic leukemia(172;0.155)					ATTCAAAAACGAAAAACTCAT	0.423000													3	12					0	0	1	0	0
CSF2RB	1439	broad.mit.edu	37	22	37334145	37334145	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr22:37334145C>T	ENST00000262825.5	+	14	2530	c.2313C>T	c.(2311-2313)ggC>ggT	p.G771G	CSF2RB_ENST00000406230.1_Silent_p.G771G|CSF2RB_ENST00000536485.1_Silent_p.G712G|CSF2RB_ENST00000403662.3_Silent_p.G765G	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	765					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	GGTTTGAGGGCTATGTGGAGC	0.642000													30	35					0	0	1	0	0
PSG1	5669	broad.mit.edu	37	19	43376022	43376022	+	Silent	SNP	G	G	A	rs60442765		TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:43376022G>A	ENST00000244296.2	-	3	743	c.606C>T	c.(604-606)ctC>ctT	p.L202L	PSG1_ENST00000403380.3_Intron|PSG1_ENST00000312439.6_Silent_p.L202L|PSG1_ENST00000595356.1_Silent_p.L202L|PSG1_ENST00000595124.1_Intron|PSG1_ENST00000436291.2_Silent_p.L202L	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				CCAATAGAAAGAGGGTCCTGT	0.527000													209	373					0	0	1	0	0
FAM183B	340286	broad.mit.edu	37	7	38725306	38725306	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:38725306G>A	ENST00000409072.3	-	2	1234	c.300C>T	c.(298-300)gtC>gtT	p.V100V						family with sequence similarity 183, member B											endometrium(1)|lung(7)	8						GTTCTGGGTCGACCAAGGCTT	0.522000													111	176					0	0	1	0	0
PHF2	5253	broad.mit.edu	37	9	96425206	96425206	+	Silent	SNP	G	G	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr9:96425206G>T	ENST00000359246.4	+	13	2083	c.1716G>T	c.(1714-1716)ctG>ctT	p.L572L	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	572	Lys-rich.				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		AGAGTGTCCTGAGTGTGCCCA	0.502000													58	21					9.53978e-28	9.84168e-28	1	1	0
TSC22D4	81628	broad.mit.edu	37	7	100074963	100074963	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:100074963G>A	ENST00000300181.2	-	2	1453	c.699C>T	c.(697-699)tcC>tcT	p.S233S	TSC22D4_ENST00000393991.1_5'UTR|TSC22D4_ENST00000496728.1_5'UTR	NM_030935.3	NP_112197.1	Q9Y3Q8	T22D4_HUMAN	TSC22 domain family, member 4	233					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTTTCCTCCGGGACAGTGGAG	0.672000													38	43					0	0	1	0	0
PCDHGA11	56105	broad.mit.edu	37	5	140801406	140801406	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:140801406G>A	ENST00000398587.2	+	1	645	c.612G>A	c.(610-612)gaG>gaA	p.E204E	PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Silent_p.E204E|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1														breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGACCGAGAGAAAGAGGCTG	0.547000													25	35					0	0	1	0	0
CCDC64B	146439	broad.mit.edu	37	16	3080524	3080524	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr16:3080524C>T	ENST00000573514.1	-	3	2257	c.67G>A	c.(67-69)Ggt>Agt	p.G23S	CCDC64B_ENST00000389347.4_Missense_Mutation_p.G230S|CCDC64B_ENST00000572449.1_Missense_Mutation_p.G230S			A1A5D9	BICR2_HUMAN	coiled-coil domain containing 64B	230										breast(1)|endometrium(2)|large_intestine(1)	4						CTGCCCTCACCCTTCTCCACC	0.672000													13	5					0	0	1	0	0
CEACAM5	1048	broad.mit.edu	37	19	42224885	42224885	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:42224885C>T	ENST00000221992.6	+	8	1929	c.1815C>T	c.(1813-1815)taC>taT	p.Y605Y	CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Silent_p.Y605Y|CEACAM5_ENST00000398599.4_Silent_p.Y604Y	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	605	Ig-like 7.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		ACTCGTCTTACCTTTCGGGAG	0.552000													107	134					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113301615	113301615	+	Missense_Mutation	SNP	C	C	T	rs138442191		TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr8:113301615C>T	ENST00000297405.5	-	57	9371	c.9127G>A	c.(9127-9129)Gga>Aga	p.G3043R	CSMD3_ENST00000455883.2_Missense_Mutation_p.G2874R|CSMD3_ENST00000343508.3_Missense_Mutation_p.G3003R|CSMD3_ENST00000352409.3_Missense_Mutation_p.G2973R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3043	Sushi 21.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGTTGTGATCCACTCCAATGG	0.398000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			45	81					0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92139273	92139273	+	Missense_Mutation	SNP	T	T	C			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:92139273T>C	ENST00000256343.3	-	13	1222	c.1066A>G	c.(1066-1068)Act>Gct	p.T356A		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	356					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				GTTAGCACAGTTGGAAAAATT	0.363000													53	99					0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89521624	89521624	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:89521624C>T	ENST00000336596.2	+	16	2926	c.2701C>T	c.(2701-2703)Ctt>Ttt	p.L901F	EPHA3_ENST00000494014.1_Missense_Mutation_p.L901F	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	901						extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GCCATCAAACCTTCTTCTGGA	0.468000										TSP Lung(6;0.00050)			59	172					0	0	1	0	0
TPTE2	93492	broad.mit.edu	37	13	20067021	20067021	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr13:20067021C>T	ENST00000400230.2	-	3	132	c.88G>A	c.(88-90)Gga>Aga	p.G30R	TPTE2_ENST00000390680.2_Missense_Mutation_p.G30R|TPTE2_ENST00000255310.6_Missense_Mutation_p.G30R|TPTE2_ENST00000400103.2_Missense_Mutation_p.G30R|TPTE2_ENST00000382975.4_Missense_Mutation_p.G30R|TPTE2_ENST00000382977.4_Missense_Mutation_p.G30R|TPTE2_ENST00000457266.2_Missense_Mutation_p.G30R|TPTE2_ENST00000382978.1_Missense_Mutation_p.G30R			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	30						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		AGGGCTGCTCCTTTAAATTCA	0.373000													21	194					0	0	1	0	0
USP45	85015	broad.mit.edu	37	6	99894074	99894074	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr6:99894074C>T	ENST00000327681.6	-	14	2106	c.1574G>A	c.(1573-1575)gGa>gAa	p.G525E	USP45_ENST00000539675.1_Intron|USP45_ENST00000392738.2_Missense_Mutation_p.G205E|USP45_ENST00000369233.2_Missense_Mutation_p.G477E|USP45_ENST00000500704.2_Missense_Mutation_p.G525E	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	525					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		CACACCGGATCCACTACTGGA	0.493000													37	46					0	0	1	0	0
PCDHA9	9752	broad.mit.edu	37	5	140230577	140230577	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:140230577G>A	ENST00000378122.3	+	1	3221	c.2497G>A	c.(2497-2499)Gaa>Aaa	p.E833K	PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATTTTTCTAGAAATCCAGCA	0.289000													78	202					0	0	1	0	0
MDP1	145553	broad.mit.edu	37	14	24684863	24684863	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:24684863C>T	ENST00000288087.7	-	3	215	c.104G>A	c.(103-105)gGa>gAa	p.G35E	NEDD8-MDP1_ENST00000604306.1_5'UTR|AL136419.6_ENST00000565988.1_RNA|MDP1_ENST00000396833.2_Missense_Mutation_p.G35E|MDP1_ENST00000532557.1_5'UTR|NEDD8-MDP1_ENST00000534348.1_Missense_Mutation_p.G52E	NM_001199822.1|NM_138476.3	NP_001186751.1|NP_612485.2			magnesium-dependent phosphatase 1											breast(2)|large_intestine(2)|lung(3)	7						TCGTACAGTTCCATCACTGGA	0.617000											OREG0022620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	119	128					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92600267	92600267	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:92600267G>A	ENST00000298047.6	+	21	12036	c.12019G>A	c.(12019-12021)Gag>Aag	p.E4007K	FAT3_ENST00000533797.1_Missense_Mutation_p.E342K|FAT3_ENST00000409404.2_Missense_Mutation_p.E4007K|FAT3_ENST00000525166.1_Missense_Mutation_p.E3857K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4007	Laminin G-like.				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)				CAGCTTCGCGGAGGTGGTGGG	0.667000										TCGA Ovarian(4;0.039)			4	6					0	0	1	0	0
KIAA0922	23240	broad.mit.edu	37	4	154555396	154555396	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr4:154555396C>T	ENST00000409959.3	+	33	4430	c.4381C>T	c.(4381-4383)Cca>Tca	p.P1461S	KIAA0922_ENST00000440693.1_Missense_Mutation_p.P1377S|KIAA0922_ENST00000409663.3_Missense_Mutation_p.P1460S	NM_001131007.1	NP_001124479.1	A2VDJ0	T131L_HUMAN	KIAA0922	1460						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				CGCATACTGTCCATTGGAATT	0.423000													30	94					0	0	1	0	0
PHF2	5253	broad.mit.edu	37	9	96425208	96425208	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr9:96425208G>A	ENST00000359246.4	+	13	2085	c.1718G>A	c.(1717-1719)aGt>aAt	p.S573N	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	573	Lys-rich.				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		AGTGTCCTGAGTGTGCCCAAC	0.507000													56	21					0	0	1	0	0
SMARCD3	6604	broad.mit.edu	37	7	150937276	150937276	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:150937276C>T	ENST00000392811.2	-	11	1530	c.1056G>A	c.(1054-1056)gaG>gaA	p.E352E	SMARCD3_ENST00000262188.8_Silent_p.E365E|SMARCD3_ENST00000356800.2_Silent_p.E352E	NM_003078.3	NP_003069.2	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3	365					cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTAATGGCTCCTCCACCTCCA	0.592000													36	52					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51915022	51915022	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr6:51915022G>A	ENST00000371117.3	-	22	2487	c.2212C>T	c.(2212-2214)Cct>Tct	p.P738S	PKHD1_ENST00000340994.4_Missense_Mutation_p.P738S	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	738					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TAGACCGGAGGGGATCCCACC	0.557000											OREG0017493	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	60					0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73047455	73047455	+	RNA	SNP	C	C	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chrX:73047455C>A	ENST00000604411.1	+	0	35416				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						TTAAAACGAACGAGAAGGGGA	0.398000													8	5					1	1	1	1	0
RAB3A	5864	broad.mit.edu	37	19	18313452	18313452	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:18313452C>T	ENST00000222256.4	-	2	277	c.99G>A	c.(97-99)gtG>gtA	p.V33V	RAB3A_ENST00000464076.2_Intron	NM_002866.4	NP_002857.1	P20336	RAB3A_HUMAN	RAB3A, member RAS oncogene family	33					glutamate secretion|protein transport|small GTPase mediated signal transduction	clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|plasma membrane|synaptic vesicle	GTP binding|GTPase activity			NS(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	8						ACGTCTTGCCCACGCTGCTGT	0.552000											OREG0025360	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	75	165					0	0	1	0	0
ATP6V1B1	525	broad.mit.edu	37	2	71163195	71163195	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:71163195C>T	ENST00000234396.4	+	1	184	c.111C>T	c.(109-111)ccC>ccT	p.P37P	ATP6V1B1_ENST00000412314.1_Silent_p.P37P	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	37					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						TCACCCACCCCCGTGTCAGTG	0.652000													28	34					0	0	1	0	0
CYB5R4	51167	broad.mit.edu	37	6	84646087	84646087	+	Missense_Mutation	SNP	T	T	C			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr6:84646087T>C	ENST00000369681.4	+	12	1240	c.1100T>C	c.(1099-1101)cTt>cCt	p.L367P	CYB5R4_ENST00000479164.1_3'UTR	NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	367	FAD-binding FR-type.				cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		CTTGATCGTCTTCAGATTGGT	0.363000													25	30					0	0	1	0	0
CAP2	10486	broad.mit.edu	37	6	17539639	17539639	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr6:17539639C>T	ENST00000229922.2	+	8	1308	c.776C>T	c.(775-777)tCa>tTa	p.S259L	CAP2_ENST00000378990.2_Missense_Mutation_p.S233L|CAP2_ENST00000465994.1_Missense_Mutation_p.S195L|CAP2_ENST00000489374.1_Missense_Mutation_p.S147L|CAP2_ENST00000493172.1_Intron	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	259					activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			TCTTCTCCTTCACGCTCAGCT	0.527000													53	78					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82584437	82584437	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:82584437C>T	ENST00000423517.2	-	5	6169	c.5832G>A	c.(5830-5832)gaG>gaA	p.E1944E	PCLO_ENST00000333891.8_Silent_p.E1944E	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1875					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CATACAAAGGCTCTTTTTCAA	0.373000													21	51					0	0	1	0	0
SLC22A10	387775	broad.mit.edu	37	11	63064904	63064904	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:63064904C>T	ENST00000544661.1	+	4	599	c.171C>T	c.(169-171)atC>atT	p.I57I	SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000535888.1_Silent_p.I2I|SLC22A10_ENST00000332793.6_Silent_p.I212I|SLC22A10_ENST00000525620.1_3'UTR			Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	212						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTTCCATGATCATTATATCAA	0.398000													43	75					0	0	1	0	0
DHX34	9704	broad.mit.edu	37	19	47856522	47856522	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:47856522G>A	ENST00000328771.4	+	2	584	c.235G>A	c.(235-237)Gag>Aag	p.E79K		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	79						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CTCCAGGAAGGAGGAGAAAGA	0.532000													70	86					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179458819	179458819	+	Missense_Mutation	SNP	T	T	G			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:179458819T>G	ENST00000589042.1	-	297	58525	c.58301A>C	c.(58300-58302)cAt>cCt	p.H19434P	TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.H17793P|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.H10561P|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.H10494P|TTN_ENST00000342992.6_Missense_Mutation_p.H16866P|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.H10369P|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17793	Fibronectin type-III 41.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTCTTTATATGAGTGCGATC	0.468000													35	65					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118377097	118377097	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:118377097G>A	ENST00000534358.1	+	27	10513	c.10490G>A	c.(10489-10491)gGa>gAa	p.G3497E	KMT2A_ENST00000354520.4_Missense_Mutation_p.G3456E|KMT2A_ENST00000389506.5_Missense_Mutation_p.G3494E	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		AATAGCATGGGACTGGAGCAG	0.542000													65	34					0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57254704	57254704	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:57254704G>A	ENST00000343433.6	-	3	941	c.861C>T	c.(859-861)atC>atT	p.I287I	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	287										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						GGAGGTTCACGATGGGAGGTC	0.572000													48	93					0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	1998971	1998971	+	Missense_Mutation	SNP	G	G	A	rs148337899		TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr8:1998971G>A	ENST00000262113.4	+	2	232	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	31					muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CCTGCTGGACGAATATGCGTC	0.493000													20	29					0	0	1	0	0
KRT4	3851	broad.mit.edu	37	12	53201466	53201466	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:53201466G>A	ENST00000293774.4	-	7	1800	c.1530C>T	c.(1528-1530)atC>atT	p.I510I	KRT4_ENST00000458244.2_Silent_p.I416I|KRT4_ENST00000551956.1_Silent_p.I436I			B4DRS2	B4DRS2_HUMAN	keratin 4	436						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						GGTAGGTGGCGATCTCGATGT	0.597000													60	106					0	0	1	0	0
SLC39A1	27173	broad.mit.edu	37	1	153932814	153932814	+	Silent	SNP	G	G	A	rs3183512		TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:153932814G>A	ENST00000368623.3	-	3	1494	c.735C>T	c.(733-735)ctC>ctT	p.L245L	SLC39A1_ENST00000537590.1_Silent_p.L143L|SLC39A1_ENST00000356205.4_Silent_p.L245L|SLC39A1_ENST00000310483.6_Silent_p.L245L|SLC39A1_ENST00000368621.1_Silent_p.L245L			Q9NY26	S39A1_HUMAN	solute carrier family 39 (zinc transporter), member 1	245						endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	zinc ion transmembrane transporter activity			kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1)	12	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)	Colorectal(1306;0.019)		TGCATGAGAAGAGGATCCCAC	0.627000													18	37					0	0	1	0	0
LRFN2	57497	broad.mit.edu	37	6	40399994	40399994	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr6:40399994C>T	ENST00000338305.6	-	2	1401	c.859G>A	c.(859-861)Gag>Aag	p.E287K		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	287	LRRCT.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGAGGCGGCTCGCACACAAAC	0.627000													40	43					0	0	1	0	0
COL6A1	1291	broad.mit.edu	37	21	47410320	47410320	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr21:47410320G>A	ENST00000361866.3	+	13	1100	c.986G>A	c.(985-987)gGg>gAg	p.G329E		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	329	Triple-helical region.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	GGCATCGACGGGGTGGACGGC	0.652000													10	32					0	0	1	0	0
COL28A1	340267	broad.mit.edu	37	7	7561561	7561561	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:7561561C>T	ENST00000399429.3	-	5	874	c.734G>A	c.(733-735)gGa>gAa	p.G245E		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	245	Collagen-like 1.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		ACCTGGATCTCCCTTCTCACA	0.383000													26	25					0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135692762	135692762	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:135692762C>T	ENST00000513104.1	-	2	596	c.314G>A	c.(313-315)cGg>cAg	p.R105Q	TRPC7_ENST00000355180.3_Missense_Mutation_p.R105Q|TRPC7_ENST00000426057.2_Missense_Mutation_p.R105Q	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	105					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTCCCCCACCCGTGCCAGGTT	0.652000													63	62					0	0	1	0	0
BAZ2A	11176	broad.mit.edu	37	12	57005373	57005373	+	Missense_Mutation	SNP	G	G	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:57005373G>T	ENST00000179765.5	-	8	1763	c.1564C>A	c.(1564-1566)Ctt>Att	p.L522I	BAZ2A_ENST00000551812.1_Missense_Mutation_p.L554I|BAZ2A_ENST00000549884.1_Missense_Mutation_p.L552I|BAZ2A_ENST00000379441.3_Missense_Mutation_p.L524I			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	554					chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						TGGAGGGGAAGACGAACTTCT	0.413000													17	26					2.4624e-09	2.50409e-09	1	1	0
TLR1	7096	broad.mit.edu	37	4	38800438	38800438	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr4:38800438G>A	ENST00000308979.2	-	4	288	c.15C>T	c.(13-15)ttC>ttT	p.F5F	TLR1_ENST00000502213.2_Silent_p.F5F	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN	toll-like receptor 1	5					cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TGGCAAAATGGAAGATGCTAG	0.323000													12	16					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34209070	34209070	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:34209070C>T	ENST00000373381.4	-	14	2160	c.1984G>A	c.(1984-1986)Gac>Aac	p.D662N		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	622	CUB 4.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ACGTCAATGTCGTTGAAGGCC	0.602000													55	24					0	0	1	0	0
RCOR2	283248	broad.mit.edu	37	11	63679791	63679791	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:63679791C>T	ENST00000301459.4	-	11	1630	c.1243G>A	c.(1243-1245)Gag>Aag	p.E415K		NM_173587.3	NP_775858.2	Q8IZ40	RCOR2_HUMAN	REST corepressor 2	415					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						TCATCTTCCTCTAGGGCTGGG	0.652000													34	58					0	0	1	0	0
VKORC1	79001	broad.mit.edu	37	16	31105790	31105790	+	Silent	SNP	G	G	A	rs141158294	by1000genomes	TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr16:31105790G>A	ENST00000394971.3	-	1	80	c.33C>T	c.(31-33)ccC>ccT	p.P11P	VKORC1_ENST00000498155.1_Intron|RP11-196G11.1_ENST00000529564.1_Intron|VKORC1_ENST00000394975.2_Intron|VKORC1_ENST00000300851.6_Intron|VKORC1_ENST00000319788.7_Intron|VKORC1_ENST00000354895.4_Intron			Q9BQB6	VKOR1_HUMAN	vitamin K epoxide reductase complex, subunit 1	0					peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane	vitamin-K-epoxide reductase (warfarin-sensitive) activity			lung(3)|urinary_tract(1)	4					Acenocoumarol(DB01418)|Dicumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682)	TCCGTTCCCCGGGCACACCGA	0.637000													18	6					0	0	1	0	0
POLR2A	5430	broad.mit.edu	37	17	7416820	7416820	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:7416820C>T	ENST00000322644.6	+	29	5636	c.5237C>T	c.(5236-5238)cCg>cTg	p.P1746L		NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1746	52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN].				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				cccaccagcccGAACTATTCT	0.537000													199	253					0	0	1	0	0
EIF2AK4	440275	broad.mit.edu	37	15	40247829	40247829	+	Missense_Mutation	SNP	G	G	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr15:40247829G>T	ENST00000263791.5	+	6	646	c.603G>T	c.(601-603)ttG>ttT	p.L201F	EIF2AK4_ENST00000559624.1_Missense_Mutation_p.L201F|EIF2AK4_ENST00000382727.2_Missense_Mutation_p.L201F	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	201					translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		AGGAACGTTTGGAAATTGCTA	0.373000													23	7					3.62473e-10	3.6894e-10	1	1	0
ACTG1P17	283693	broad.mit.edu	37	15	83395389	83395389	+	RNA	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr15:83395389G>A	ENST00000560958.1	-	0	897					NR_036446.1																						CCATGCCCAGGAAGGAGGGCT	0.542000													14	3					0	0	1	0	0
FSTL4	23105	broad.mit.edu	37	5	132939595	132939595	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:132939595C>T	ENST00000265342.7	-	2	329	c.80G>A	c.(79-81)gGa>gAa	p.G27E		NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	27						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCTGCTGGTTCCTGGGTCCAT	0.537000													69	66					0	0	1	0	0
SLC2A4RG	56731	broad.mit.edu	37	20	62373917	62373917	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr20:62373917C>T	ENST00000266077.2	+	6	961	c.909C>T	c.(907-909)gtC>gtT	p.V303V	SLC2A4RG_ENST00000493772.1_3'UTR	NM_020062.3	NP_064446.2	Q9NR83	S2A4R_HUMAN	SLC2A4 regulator	303						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|lung(2)|prostate(2)|skin(1)	7	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					cgcccccTGTCCTGAGCACCG	0.726000													6	8					0	0	1	0	0
ANXA7	310	broad.mit.edu	37	10	75135928	75135928	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr10:75135928C>T	ENST00000372921.4	-	13	1382	c.1326G>A	c.(1324-1326)aaG>aaA	p.K442K	ANXA7_ENST00000535178.1_Silent_p.K312K	NM_001156.3	NP_001147.1	P20073	ANXA7_HUMAN	annexin A7	464							calcium ion binding|calcium-dependent phospholipid binding|calcium-dependent protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26	Prostate(51;0.0119)					TGCCCAGAGTCTTCTGATACA	0.378000													13	12					0	0	1	0	0
RBBP8	5932	broad.mit.edu	37	18	20576416	20576416	+	Silent	SNP	A	A	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr18:20576416A>T	ENST00000399722.2	+	13	2370	c.2019A>T	c.(2017-2019)atA>atT	p.I673I	RBBP8_ENST00000399725.2_Silent_p.I673I|RBBP8_ENST00000360790.5_Silent_p.I673I|RBBP8_ENST00000327155.5_Silent_p.I673I	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	673					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			TTACTGTAATAGATACAAAGG	0.358000								Homologous recombination					15	6					0	0	1	0	0
MIEF1	54471	broad.mit.edu	37	22	39907930	39907930	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr22:39907930C>T	ENST00000325301.2	+	4	645	c.221C>T	c.(220-222)cCc>cTc	p.P74L	SMCR7L_ENST00000402881.1_Missense_Mutation_p.P74L|SMCR7L_ENST00000404569.1_Missense_Mutation_p.P74L	NM_019008.4	NP_061881.2	Q9NQG6	SMC7L_HUMAN		74						integral to membrane|mitochondrion				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)	16	Melanoma(58;0.04)					TGGGAAGAACCCAACTGGATG	0.602000													83	96					0	0	1	0	0
OR4N2	390429	broad.mit.edu	37	14	20296333	20296333	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:20296333C>T	ENST00000315947.1	+	1	726	c.726C>T	c.(724-726)acC>acT	p.T242T	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	242					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)		CGTGCATCACCCATATCATTG	0.493000													53	54					0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178413693	178413693	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:178413693G>A	ENST00000231188.5	-	8	1740	c.1562C>T	c.(1561-1563)cCc>cTc	p.P521L	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000517717.1_Missense_Mutation_p.P521L	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	521					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CGGCCCGCAGGGCAGGCTGCA	0.677000													46	42					0	0	1	0	0
ARHGEF1	9138	broad.mit.edu	37	19	42396404	42396404	+	Silent	SNP	T	T	G			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:42396404T>G	ENST00000599846.1	+	6	452	c.327T>G	c.(325-327)gtT>gtG	p.V109V	ARHGEF1_ENST00000354532.3_Silent_p.V109V|ARHGEF1_ENST00000378152.4_Silent_p.V91V|ARHGEF1_ENST00000347545.4_Silent_p.V76V|ARHGEF1_ENST00000337665.4_Silent_p.V124V|ARHGEF1_ENST00000596957.1_3'UTR			Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	109	RGSL.				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		TTGAGCAGGTTCTCCGGGTGC	0.612000													73	138					0	0	1	0	0
C20orf197	284756	broad.mit.edu	37	20	58645095	58645095	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr20:58645095G>A	ENST00000313426.1	+	3	372	c.66G>A	c.(64-66)ctG>ctA	p.L22L		NM_173644.1	NP_775915.1	Q8N268	CT197_HUMAN	chromosome 20 open reading frame 197	22										large_intestine(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	5			BRCA - Breast invasive adenocarcinoma(7;2.33e-09)			GCCACAGGCTGAAGGTGAGTC	0.547000													23	32					0	0	1	0	0
CABP7	164633	broad.mit.edu	37	22	30125176	30125176	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr22:30125176G>A	ENST00000216144.3	+	4	840	c.499G>A	c.(499-501)Gag>Aag	p.E167K		NM_182527.2	NP_872333.1	Q86V35	CABP7_HUMAN	calcium binding protein 7	167						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			lung(1)|skin(3)	4			OV - Ovarian serous cystadenocarcinoma(5;0.00442)|Epithelial(10;0.215)|all cancers(5;0.233)			CACAGCCGAGGAGTGTCCCGT	0.632000													7	8					0	0	1	0	0
TPTE2	93492	broad.mit.edu	37	13	20024225	20024225	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr13:20024225C>T	ENST00000400230.2	-	13	1008	c.964G>A	c.(964-966)Gga>Aga	p.G322R	TPTE2_ENST00000390680.2_Missense_Mutation_p.G245R|TPTE2_ENST00000255310.6_Missense_Mutation_p.G245R|TPTE2_ENST00000400103.2_Missense_Mutation_p.G211R|TPTE2_ENST00000382975.4_Missense_Mutation_p.G282R|TPTE2_ENST00000382977.4_Missense_Mutation_p.G322R|TPTE2_ENST00000457266.2_Missense_Mutation_p.G211R|TPTE2_ENST00000382978.1_Missense_Mutation_p.G282R			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	322	Phosphatase tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CCTTTGCCTCCTTTACAGTGA	0.328000													44	38					0	0	1	0	0
WDR72	256764	broad.mit.edu	37	15	53994417	53994417	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr15:53994417C>T	ENST00000396328.1	-	12	1722	c.1483G>A	c.(1483-1485)Gat>Aat	p.D495N	WDR72_ENST00000559418.1_Missense_Mutation_p.D505N|WDR72_ENST00000360509.5_Missense_Mutation_p.D495N|WDR72_ENST00000557913.1_Missense_Mutation_p.D492N	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	495										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		GTAAAGATATCCCACAAGATC	0.393000													41	25					0	0	1	0	0
PRUNE	58497	broad.mit.edu	37	1	151006421	151006421	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:151006421C>T	ENST00000271620.3	+	8	1229	c.1073C>T	c.(1072-1074)gCc>gTc	p.A358V	PRUNE_ENST00000271619.8_Missense_Mutation_p.A146V|PRUNE_ENST00000368937.1_Missense_Mutation_p.A123V|PRUNE_ENST00000368934.1_Missense_Mutation_p.A123V|PRUNE_ENST00000368936.1_Missense_Mutation_p.A176V|PRUNE_ENST00000368935.1_Missense_Mutation_p.A73V	NM_021222.1	NP_067045.1	Q86TP1	PRUNE_HUMAN	prune exopolyphosphatase	358						cytoplasm|focal adhesion|nucleus	inorganic diphosphatase activity|manganese ion binding|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTCCAGGAAGCCCTGTCAGCA	0.532000													75	123					0	0	1	0	0
STARD13	90627	broad.mit.edu	37	13	33704223	33704223	+	Silent	SNP	G	G	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr13:33704223G>T	ENST00000336934.5	-	5	707	c.591C>A	c.(589-591)tcC>tcA	p.S197S	STARD13_ENST00000255486.4_Silent_p.S189S|STARD13_ENST00000399365.3_Silent_p.S79S	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	197					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CGCTGTGAATGGAGCAGACCT	0.622000													12	40					9.31168e-06	9.39401e-06	1	1	0
CTBP2	1488	broad.mit.edu	37	10	126715535	126715535	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr10:126715535G>A	ENST00000309035.6	-	1	924	c.794C>T	c.(793-795)cCa>cTa	p.P265L	CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000337195.5_Intron|CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000494626.2_Intron	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	418					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CATCTTGGATGGGATGCTTTC	0.637000													61	28					0	0	1	0	0
KCNN3	3782	broad.mit.edu	37	1	154744670	154744670	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:154744670G>A	ENST00000271915.3	-	3	1544	c.1229C>T	c.(1228-1230)cCc>cTc	p.P410L	KCNN3_ENST00000358505.2_Missense_Mutation_p.P97L|KCNN3_ENST00000361147.4_Missense_Mutation_p.P105L	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	415						integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			CAGGAACATGGGGATAGACAG	0.612000													32	40					0	0	1	0	0
CYB561A3	220002	broad.mit.edu	37	11	61121425	61121425	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:61121425G>A	ENST00000426130.2	-	5	1054	c.275C>T	c.(274-276)cCc>cTc	p.P92L	CYB561A3_ENST00000546151.1_Intron|CYB561A3_ENST00000294072.4_Missense_Mutation_p.P75L|CYB561A3_ENST00000536915.1_Missense_Mutation_p.P75L|CYB561A3_ENST00000539890.1_Intron|CYB561A3_ENST00000544118.1_Intron|CYB561A3_ENST00000447532.2_Missense_Mutation_p.P75L|CYB561A3_ENST00000540317.1_5'UTR	NM_001161454.1	NP_001154926.1			cytochrome b561 family, member A3																		GGGCAGTTTGGGCCCCACCCA	0.612000													35	41					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75038840	75038840	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:75038840C>T	ENST00000326665.5	-	14	2772	c.2554G>A	c.(2554-2556)Ggt>Agt	p.G852S	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	852	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCCCCTTCACCCAGCCTTCTG	0.532000													72	107					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57828169	57828169	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr20:57828169G>A	ENST00000371030.2	+	4	4164	c.4164G>A	c.(4162-4164)agG>agA	p.R1388R		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1388						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GAATTGTCAGGGAAATGGACA	0.463000													43	93					0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196311244	196311244	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:196311244C>T	ENST00000367433.5	-	15	1619	c.1518G>A	c.(1516-1518)aaG>aaA	p.K506K	KCNT2_ENST00000294725.8_Silent_p.K506K|KCNT2_ENST00000367431.4_Intron|KCNT2_ENST00000451324.2_Silent_p.K117K|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	506	RCK N-terminal.					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						ATGTAAAACTCTTTCCTTCAT	0.363000													20	49					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169511679	169511679	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:169511679C>T	ENST00000367796.3	-	13	2865	c.2664G>A	c.(2662-2664)atG>atA	p.M888I	F5_ENST00000367797.3_Missense_Mutation_p.M883I			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	883	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	p.M883I(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CTAGTAATTTCATCCAGGAGA	0.473000													79	152					0	0	1	0	0
ARHGEF25	115557	broad.mit.edu	37	12	58007140	58007140	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:58007140C>T	ENST00000286494.4	+	3	866	c.406C>T	c.(406-408)Cag>Tag	p.Q136*	AC025165.8_ENST00000444467.1_RNA|ARHGEF25_ENST00000333972.7_Nonsense_Mutation_p.Q175*|AC025165.8_ENST00000356672.3_RNA	NM_182947.3	NP_891992.2	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	136					regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						AGATAAGACGCAGGTGTGAGG	0.577000													32	52					0	0	1	0	0
ACAD10	80724	broad.mit.edu	37	12	112187078	112187078	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:112187078C>T	ENST00000455480.2	+	19	3016	c.2839C>T	c.(2839-2841)Ccc>Tcc	p.P947S	ACAD10_ENST00000313698.4_Missense_Mutation_p.P916S	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	916							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						CAGACTGGGCCCCGGCAGGAT	0.632000													63	21					0	0	1	0	0
GPR108	56927	broad.mit.edu	37	19	6731932	6731932	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:6731932G>A	ENST00000264080.7	-	14	1296	c.1270C>T	c.(1270-1272)Ctc>Ttc	p.L424F	GPR108_ENST00000430424.4_Missense_Mutation_p.L182F|GPR108_ENST00000598626.1_5'UTR	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	424						integral to membrane				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						GCATCCTGGAGATGCCGGATG	0.672000													13	18					0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28151401	28151401	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr10:28151401G>A	ENST00000305242.5	-	18	2853	c.2761C>T	c.(2761-2763)Cat>Tat	p.H921Y	ARMC4_ENST00000537576.1_Missense_Mutation_p.H613Y|ARMC4_ENST00000545014.1_Missense_Mutation_p.H446Y	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	921							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						ACAACTCCATGATCTGTGATA	0.348000													28	60					0	0	1	0	0
FBXO3	26273	broad.mit.edu	37	11	33795991	33795991	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:33795991G>A	ENST00000530401.1	-	1	73	c.53C>T	c.(52-54)aCc>aTc	p.T18I	FBXO3_ENST00000534136.1_Missense_Mutation_p.T18I|FBXO3_ENST00000265651.3_Missense_Mutation_p.T18I|FBXO3_ENST00000448981.2_Missense_Mutation_p.T18I			Q9UK99	FBX3_HUMAN	F-box protein 3	18	F-box.				proteolysis	nucleus	ubiquitin-protein ligase activity			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		CAGGGGATCGGTGGGCAGCGA	0.657000													4	14					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50724620	50724620	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:50724620C>T	ENST00000404971.1	-	15	4189	c.2850G>A	c.(2848-2850)aaG>aaA	p.K950K	NRXN1_ENST00000402717.3_Silent_p.K902K|NRXN1_ENST00000406316.2_Silent_p.K910K|NRXN1_ENST00000405472.3_Silent_p.K902K|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Silent_p.K910K|NRXN1_ENST00000401669.2_Silent_p.K910K	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	910	Laminin G-like 5.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TCGATTTGGTCTTGAAGGTGA	0.408000													14	26					0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46656474	46656474	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr22:46656474G>A	ENST00000253255.5	-	1	2745	c.2746C>T	c.(2746-2748)Cct>Tct	p.P916S		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	916					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	p.P916S(1)		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)		TTTAACCAAGGAAAGAGGTCA	0.413000													75	124					0	0	1	0	0
HR	55806	broad.mit.edu	37	8	21977350	21977350	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr8:21977350C>T	ENST00000381418.4	-	14	4380	c.2900G>A	c.(2899-2901)gGa>gAa	p.G967E	HR_ENST00000312841.8_Missense_Mutation_p.G967E	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	967	JmjC.						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GTTGAGTTTTCCATGGAGGGC	0.647000													53	22					0	0	1	0	0
PCDH12	51294	broad.mit.edu	37	5	141335515	141335515	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:141335515G>A	ENST00000231484.3	-	1	3112	c.1902C>T	c.(1900-1902)ccC>ccT	p.P634P		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	634	Cadherin 6.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTGTAGAGGGGCTCTCCAT	0.567000													34	69					0	0	1	0	0
TGM2	7052	broad.mit.edu	37	20	36767919	36767919	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr20:36767919G>A	ENST00000361475.2	-	9	1410	c.1237C>T	c.(1237-1239)Cac>Tac	p.H413Y	TGM2_ENST00000536701.1_Missense_Mutation_p.H332Y|TGM2_ENST00000536724.1_Missense_Mutation_p.H353Y	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	413					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	ATGGATTTGTGCACAGACCCA	0.567000													24	62					0	0	1	0	0
MOV10L1	54456	broad.mit.edu	37	22	50530545	50530545	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr22:50530545G>A	ENST00000262794.5	+	2	296	c.213G>A	c.(211-213)ctG>ctA	p.L71L	MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Silent_p.L71L|MOV10L1_ENST00000545383.1_Silent_p.L71L|MOV10L1_ENST00000540615.1_Silent_p.L51L|MOV10L1_ENST00000475190.1_3'UTR	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	71					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)		GAGTGCTTCTGAATGTTGGAC	0.428000													51	71					0	0	1	0	0
GCC1	79571	broad.mit.edu	37	7	127222361	127222361	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:127222361C>T	ENST00000321407.2	-	2	2459	c.2035G>A	c.(2035-2037)Gtc>Atc	p.V679I		NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	679						Golgi membrane|plasma membrane	protein binding	p.V679I(1)		breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TGCACCTCGACCTCCAGCCTG	0.587000													38	60					0	0	1	0	0
NUAK1	9891	broad.mit.edu	37	12	106460745	106460745	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:106460745G>A	ENST00000261402.2	-	7	3200	c.1821C>T	c.(1819-1821)ttC>ttT	p.F607F		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	607							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						GGATCTGGAGGAAGTTTTCTG	0.612000													37	13					0	0	1	0	0
SCN2B	6327	broad.mit.edu	37	11	118047137	118047137	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:118047137C>T	ENST00000278947.5	-	1	251	c.10G>A	c.(10-12)Gat>Aat	p.D4N		NM_004588.4	NP_004579.1	O60939	SCN2B_HUMAN	sodium channel, voltage-gated, type II, beta subunit	4					synaptic transmission	voltage-gated sodium channel complex	voltage-gated sodium channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)		AGCCAGGCATCTCTGTGCATT	0.532000													49	31					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1099444	1099444	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:1099444C>T	ENST00000441003.2	+	39	7312	c.7285C>T	c.(7285-7287)Ctg>Ttg	p.L2429L		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4791						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CAACACAGTCCTGGTGGAAGG	0.622000													4	9					0	0	1	0	0
BTN2A3P	54718	broad.mit.edu	37	6	26423294	26423294	+	RNA	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr6:26423294C>T	ENST00000466808.2	+	0	213																											CTCAGTTCTCCCCTGCAGTGT	0.537000													43	59					0	0	1	0	0
RPL10L	140801	broad.mit.edu	37	14	47120740	47120740	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:47120740G>A	ENST00000298283.3	-	1	288	c.200C>T	c.(199-201)gCc>gTc	p.A67V		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	67					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						AATACGGGCGGCCTCCAGGGC	0.512000													32	53					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857030	9857030	+	Missense_Mutation	SNP	C	C	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr16:9857030C>A	ENST00000396573.2	-	14	4680	c.4371G>T	c.(4369-4371)atG>atT	p.M1457I	GRIN2A_ENST00000404927.2_3'UTR|GRIN2A_ENST00000396575.2_Missense_Mutation_p.M1457I|GRIN2A_ENST00000330684.3_Missense_Mutation_p.M1457I|GRIN2A_ENST00000535259.1_3'UTR|GRIN2A_ENST00000562109.1_3'UTR	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1457					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CGATACTAGGCATTTTCTTGT	0.368000													18	11					1.99824e-07	2.02306e-07	1	1	0
RASD2	23551	broad.mit.edu	37	22	35947705	35947705	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr22:35947705G>A	ENST00000216127.4	+	3	1069	c.427G>A	c.(427-429)Gac>Aac	p.D143N		NM_014310.3	NP_055125.2	Q96D21	RHES_HUMAN	RASD family, member 2	143					locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity			endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						CAACAAGAACGACCACGGCGA	0.622000													21	51					0	0	1	0	0
TMEM131	23505	broad.mit.edu	37	2	98383006	98383006	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:98383006C>T	ENST00000186436.5	-	34	4736	c.4508G>A	c.(4507-4509)aGc>aAc	p.S1503N		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1503						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						AGGAATCTTGCTTGGGAGATT	0.383000													50	84					0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17052416	17052416	+	Silent	SNP	A	A	G			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:17052416A>G	ENST00000418129.2	+	2	1665	c.1200A>G	c.(1198-1200)aaA>aaG	p.K400K	PLCL2_ENST00000432376.1_Silent_p.K400K|PLCL2_ENST00000460467.1_3'UTR|PLCL2_ENST00000396755.2_Silent_p.K400K	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	526					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						GTTCCATTAAACAACAGAAGG	0.368000													16	27					0	0	1	0	0
MLH3	27030	broad.mit.edu	37	14	75514072	75514072	+	Missense_Mutation	SNP	T	T	C			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:75514072T>C	ENST00000355774.2	-	2	2502	c.2287A>G	c.(2287-2289)Aag>Gag	p.K763E	MLH3_ENST00000556257.1_Missense_Mutation_p.K763E|MLH3_ENST00000556740.1_Missense_Mutation_p.K763E|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000238662.7_Missense_Mutation_p.K763E	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN	mutL homolog 3	763					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		TTTTCAACCTTCCCATATTGC	0.393000								Mismatch excision repair (MMR)					53	109					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186276027	186276027	+	Silent	SNP	T	T	C			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:186276027T>C	ENST00000445192.2	+	7	1221	c.1176T>C	c.(1174-1176)acT>acC	p.T392T	PRG4_ENST00000367486.3_Silent_p.T349T|PRG4_ENST00000367483.4_Silent_p.T351T|PRG4_ENST00000367485.4_Silent_p.T299T|PRG4_ENST00000367484.3_Silent_p.T351T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	392	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCCACCACTCCCAAGGAGC	0.637000													8	151					0	0	1	0	0
OLFML1	283298	broad.mit.edu	37	11	7507224	7507224	+	Missense_Mutation	SNP	C	C	G			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:7507224C>G	ENST00000329293.3	+	1	512	c.118C>G	c.(118-120)Cga>Gga	p.R40G	CTD-2516F10.2_ENST00000530201.1_RNA|OLFML1_ENST00000528758.1_Missense_Mutation_p.R40G|OLFML1_ENST00000530135.1_Missense_Mutation_p.R40G	NM_198474.3	NP_940876.2	Q6UWY5	OLFL1_HUMAN	olfactomedin-like 1	40						extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		CCAGCGCTTTCGAGTCTTGGA	0.502000													22	40					0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101493406	101493406	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:101493406C>T	ENST00000392979.3	+	21	2313	c.1952C>T	c.(1951-1953)cCt>cTt	p.P651L	ANO4_ENST00000299222.9_Missense_Mutation_p.P206L|ANO4_ENST00000392977.3_Missense_Mutation_p.P686L|ANO4_ENST00000550015.1_Missense_Mutation_p.P206L	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	686						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GAACATGGACCTGAAAGGAAA	0.363000										HNSCC(74;0.22)			31	10					0	0	1	0	0
FAM222A	84915	broad.mit.edu	37	12	110206464	110206464	+	Missense_Mutation	SNP	T	T	C			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:110206464T>C	ENST00000538780.1	+	3	1446	c.730T>C	c.(730-732)Tac>Cac	p.Y244H	FAM222A-AS1_ENST00000541723.1_RNA|FAM222A-AS1_ENST00000541460.1_RNA|FAM222A_ENST00000358906.3_Missense_Mutation_p.Y244H	NM_032829.2	NP_116218.2	Q5U5X8	CL034_HUMAN	family with sequence similarity 222, member A	244	Pro-rich.																CAGCATGGCCTACTCGGCTGC	0.716000													5	5					0	0	1	0	0
CCDC68	80323	broad.mit.edu	37	18	52605227	52605227	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr18:52605227G>A	ENST00000591504.1	-	5	580	c.306C>T	c.(304-306)ctC>ctT	p.L102L	CCDC68_ENST00000432185.1_Silent_p.L102L|CCDC68_ENST00000337363.4_Silent_p.L102L	NM_025214.2	NP_079490.1	Q9H2F9	CCD68_HUMAN	coiled-coil domain containing 68	102										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		TCATTTCTAAGAGCTGTAGGT	0.353000													17	11					0	0	1	0	0
PPM1D	8493	broad.mit.edu	37	17	58725426	58725426	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:58725426G>A	ENST00000305921.3	+	4	1232	c.1000G>A	c.(1000-1002)Gag>Aag	p.E334K		NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	334	PP2C-like.				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			GGACCAAGAGGAGAAAAAATA	0.378000													25	56					0	0	1	0	0
NET1	10276	broad.mit.edu	37	10	5496342	5496342	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr10:5496342G>A	ENST00000355029.4	+	9	1025	c.883G>A	c.(883-885)Gag>Aag	p.E295K	NET1_ENST00000380359.3_Missense_Mutation_p.E241K|NET1_ENST00000542715.1_Missense_Mutation_p.E114K	NM_001047160.1	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	295	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity			breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						GCGATGTCTCGAGTCTCCCTT	0.433000													29	47					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131371229	131371229	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr9:131371229C>T	ENST00000372739.3	+	35	4678	c.4568C>T	c.(4567-4569)tCt>tTt	p.S1523F	SPTAN1_ENST00000372731.4_Missense_Mutation_p.S1523F|SPTAN1_ENST00000358161.5_Missense_Mutation_p.S1523F	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1523					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GGAGACATTTCTAGCCGGCGC	0.562000													136	195					0	0	1	0	0
C2orf78	388960	broad.mit.edu	37	2	74043400	74043400	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:74043400C>T	ENST00000409561.1	+	3	2171	c.2050C>T	c.(2050-2052)Ccg>Tcg	p.P684S		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	684										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						GGGTAAAGGCCCGGAGAAAAT	0.517000													33	59					0	0	1	0	0
MYO18A	399687	broad.mit.edu	37	17	27442117	27442117	+	Splice_Site	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:27442117C>T	ENST00000527372.1	-	14	2499	c.2318_splice	c.e14-1	p.R773_splice	MYO18A_ENST00000354329.4_Splice_Site_p.R773_splice|MYO18A_ENST00000533112.1_Splice_Site_p.R773_splice|MYO18A_ENST00000531253.1_Splice_Site_p.R773_splice	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	773	Myosin head-like.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			ACTTGAGAGCCCTGGATAGGG	0.657000													11	14					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90070088	90070088	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:90070088C>T	ENST00000405460.2	+	60	12467	c.12371C>T	c.(12370-12372)tCa>tTa	p.S4124L		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4124					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)		CAGCTGATATCAATTGATGAG	0.363000													26	41					0	0	1	0	0
MAPK8IP1	9479	broad.mit.edu	37	11	45924251	45924251	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:45924251C>T	ENST00000395629.2	+	5	1233	c.903C>T	c.(901-903)tcC>tcT	p.S301S	MAPK8IP1_ENST00000241014.2_Silent_p.S311S			Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	311					vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		CAGTCAGCTCCGATCCAGACC	0.677000													13	20					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41306714	41306714	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr20:41306714G>A	ENST00000373198.3	-	7	1180	c.945C>T	c.(943-945)atC>atT	p.I315I	PTPRT_ENST00000373201.1_Silent_p.I315I|PTPRT_ENST00000373193.3_Silent_p.I315I|PTPRT_ENST00000356100.2_Silent_p.I315I|PTPRT_ENST00000373187.1_Silent_p.I315I|PTPRT_ENST00000373190.1_Silent_p.I315I|PTPRT_ENST00000373184.1_Silent_p.I315I	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	315	Fibronectin type-III 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGCCATCCCCGATGATGGAGT	0.572000													29	41					0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140501938	140501938	+	Missense_Mutation	SNP	T	T	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:140501938T>A	ENST00000194152.1	+	1	358	c.358T>A	c.(358-360)Tta>Ata	p.L120I		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		120	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCAAGGAGAATTATTGATCCA	0.433000													66	66					0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157475611	157475611	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:157475611G>A	ENST00000389413.3	-	12	1823	c.1720C>T	c.(1720-1722)Ctg>Ttg	p.L574L	PTPRN2_ENST00000389416.4_Silent_p.L586L|PTPRN2_ENST00000389418.4_Silent_p.L603L|PTPRN2_ENST00000404321.2_Silent_p.L626L|PTPRN2_ENST00000409483.1_Silent_p.L565L	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	603						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TGAGGAGGCAGGAACTTGAGT	0.547000													16	29					0	0	1	0	0
ACSBG2	81616	broad.mit.edu	37	19	6147624	6147624	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:6147624G>A	ENST00000588304.1	+	3	531	c.85G>A	c.(85-87)Gaa>Aaa	p.E29K	ACSBG2_ENST00000591403.1_Missense_Mutation_p.E79K|ACSBG2_ENST00000588485.1_5'UTR|ACSBG2_ENST00000252669.5_Missense_Mutation_p.E79K|ACSBG2_ENST00000586696.1_Missense_Mutation_p.E79K			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	79					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CAAAAAGTGGGAAATTCTGAA	0.433000													94	158					0	0	1	0	0
MAN2A2	4122	broad.mit.edu	37	15	91448660	91448660	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr15:91448660C>T	ENST00000360468.3	+	2	330	c.312C>T	c.(310-312)ccC>ccT	p.P104P	MAN2A2_ENST00000559717.1_Silent_p.P104P	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	104					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CACCGGAGCCCCGGCCCAGCT	0.657000													46	40					0	0	1	0	0
DLEC1	9940	broad.mit.edu	37	3	38149908	38149908	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:38149908C>T	ENST00000308059.6	+	21	3052	c.3031C>T	c.(3031-3033)Caa>Taa	p.Q1011*	DLEC1_ENST00000452631.2_Nonsense_Mutation_p.Q1011*|DLEC1_ENST00000346219.3_Nonsense_Mutation_p.Q1011*			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	1011					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CCTCGGACACCAAGCAGAATT	0.557000													10	23					0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133257804	133257804	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:133257804C>T	ENST00000320574.5	-	2	167	c.124G>A	c.(124-126)Gat>Aat	p.D42N	POLE_ENST00000535270.1_Missense_Mutation_p.D42N	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	42					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		TCCATCTTATCCGTCCACTGA	0.517000								DNA polymerases (catalytic subunits)					56	30					0	0	1	0	0
OR10G8	219869	broad.mit.edu	37	11	123900818	123900818	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:123900818C>T	ENST00000431524.1	+	1	522	c.489C>T	c.(487-489)ttC>ttT	p.F163F		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TATTGACTTTCCATTTGCCCT	0.552000													79	145					0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25265187	25265187	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr13:25265187C>T	ENST00000218548.6	+	8	1218	c.885C>T	c.(883-885)gcC>gcT	p.A295A	ATP12A_ENST00000381946.3_Silent_p.A289A	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	289					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	CCTCATTGGCCTCAGGAGTTG	0.512000													134	73					0	0	1	0	0
KLHL14	57565	broad.mit.edu	37	18	30349830	30349830	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr18:30349830G>A	ENST00000359358.4	-	2	1163	c.725C>T	c.(724-726)tCc>tTc	p.S242F	AC012123.1_ENST00000426194.1_Missense_Mutation_p.D20N|KLHL14_ENST00000358095.4_Missense_Mutation_p.S242F	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	242	BACK.					cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						CCACAGCACGGACATCTGGAA	0.677000													30	8					0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105150504	105150504	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chrX:105150504G>A	ENST00000428173.2	+	11	1246	c.943G>A	c.(943-945)Gat>Aat	p.D315N	NRK_ENST00000243300.9_Missense_Mutation_p.D315N			Q7Z2Y5	NRK_HUMAN	Nik related kinase	315							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						ATTTGTTCGGGATATAAAAAA	0.338000										HNSCC(51;0.14)			5	5					0	0	1	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73076547	73076547	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:73076547C>T	ENST00000263674.3	+	19	6013	c.5663C>T	c.(5662-5664)cCa>cTa	p.P1888L		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1888					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CTCTACCATCCAGACACCTTT	0.577000													19	44					0	0	1	0	0
PPFIA4	8497	broad.mit.edu	37	1	203044805	203044805	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:203044805C>T	ENST00000367240.2	+	28	3958	c.3431C>T	c.(3430-3432)aCc>aTc	p.T1144I	PPFIA4_ENST00000599966.1_Missense_Mutation_p.T650I|PPFIA4_ENST00000295706.4_Missense_Mutation_p.T650I|PPFIA4_ENST00000414050.2_Missense_Mutation_p.T872I|PPFIA4_ENST00000447715.2_Missense_Mutation_p.T1143I|PPFIA4_ENST00000272198.6_Missense_Mutation_p.T659I			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	659					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						TCCGCGGAGACCCTCCCGGCG	0.706000													8	7					0	0	1	0	0
ASAP1	50807	broad.mit.edu	37	8	131140257	131140257	+	Missense_Mutation	SNP	T	T	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr8:131140257T>A	ENST00000357668.1	-	15	1324	c.1297A>T	c.(1297-1299)Agc>Tgc	p.S433C	ASAP1_ENST00000518721.1_Missense_Mutation_p.S433C			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	433					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TCTTCCAGGCTGTTCTCTCCC	0.478000													23	43					0	0	1	0	0
ITGA5	3678	broad.mit.edu	37	12	54799659	54799659	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:54799659C>A	ENST00000293379.4	-	10	1219	c.958G>T	c.(958-960)Gaa>Taa	p.E320*	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	320					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						CTTACCTGTTCCCCTGAGAAG	0.542000													51	91					9.59835e-30	9.91105e-30	1	1	0
LIPI	149998	broad.mit.edu	37	21	15537711	15537711	+	Splice_Site	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr21:15537711C>T	ENST00000344577.2	-	6	822	c.796_splice	c.e6-1	p.G266_splice	LIPI_ENST00000536861.1_Splice_Site_p.G245_splice	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	245					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		GAATTGAATTCCTTAAGGGTT	0.303000													17	26					0	0	1	0	0
THUMPD3	25917	broad.mit.edu	37	3	9424968	9424968	+	Missense_Mutation	SNP	G	G	A	rs77084156		TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:9424968G>A	ENST00000345094.3	+	8	1544	c.1210G>A	c.(1210-1212)Gta>Ata	p.V404I	THUMPD3_ENST00000515662.2_Missense_Mutation_p.V404I|SETD5-AS1_ENST00000468186.1_RNA|THUMPD3_ENST00000452837.2_Missense_Mutation_p.V404I	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	404							methyltransferase activity|protein binding|RNA binding			NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)		GGATATTATTGTAACAGATTT	0.413000													28	23					0	0	1	0	0
DPYS	1807	broad.mit.edu	37	8	105436533	105436533	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr8:105436533C>T	ENST00000351513.2	-	7	1309	c.1177G>A	c.(1177-1179)Gga>Aga	p.G393R		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	393					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GCTATTCTTCCTTTTCTTGGA	0.378000													46	83					0	0	1	0	0
AKAP4	8852	broad.mit.edu	37	X	49958332	49958332	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chrX:49958332C>T	ENST00000376056.2	-	5	1155	c.1005G>A	c.(1003-1005)atG>atA	p.M335I	AKAP4_ENST00000376064.3_Missense_Mutation_p.M335I|AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000358526.2_Missense_Mutation_p.M344I			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	344					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					GAGAGACCATCATGTCAGATG	0.483000													24	8					0	0	1	0	0
SPRY1	10252	broad.mit.edu	37	4	124323681	124323681	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr4:124323681C>T	ENST00000394339.2	+	2	1275	c.935C>T	c.(934-936)tCc>tTc	p.S312F	SPRY1_ENST00000339241.1_Missense_Mutation_p.S312F	NM_001258039.1|NM_005841.2	NP_001244968.1|NP_005832.1	O43609	SPY1_HUMAN	sprouty homolog 1, antagonist of FGF signaling (Drosophila)	312					epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|lamellipodium|plasma membrane				NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						AGCTGCCCCTCCCGGGGTCAG	0.468000													54	68					0	0	1	0	0
SOX13	9580	broad.mit.edu	37	1	204086823	204086823	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:204086823C>T	ENST00000367204.1	+	7	872	c.763C>T	c.(763-765)Ccc>Tcc	p.P255S	SOX13_ENST00000367203.4_3'UTR	NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	255	Pro-rich.				anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			TCAGCCCATTCCCTGCAAACC	0.577000													11	18					0	0	1	0	0
CLVS1	157807	broad.mit.edu	37	8	62212755	62212755	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr8:62212755C>T	ENST00000519846.1	+	3	841	c.369C>T	c.(367-369)atC>atT	p.I123I	RP11-787D18.1_ENST00000518064.1_RNA|CLVS1_ENST00000325897.4_Silent_p.I123I|CLVS1_ENST00000518592.1_Intron			Q8IUQ0	CLVS1_HUMAN	clavesin 1	123	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	p.I123M(1)		endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						GGGCTCTGATCGATGGGTTCC	0.488000													29	45					0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234863801	234863801	+	Silent	SNP	G	G	A	rs151229928		TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:234863801G>A	ENST00000324695.4	+	11	1309	c.1269G>A	c.(1267-1269)aaG>aaA	p.K423K	AC005538.5_ENST00000455991.1_RNA|TRPM8_ENST00000433712.2_Silent_p.K111K	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	423						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	AGCAAGACAAGGATAACTGGA	0.498000													37	8					0	0	1	0	0
GPR141	353345	broad.mit.edu	37	7	37780616	37780616	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:37780616G>A	ENST00000447769.1	+	4	910	c.621G>A	c.(619-621)atG>atA	p.M207I	GPR141_ENST00000334425.1_Missense_Mutation_p.M207I|EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000461610.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	207						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTATGTTGATGGTGCAGAAGC	0.408000													68	87					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70515509	70515509	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:70515509G>A	ENST00000381269.2	-	7	3135	c.2382C>T	c.(2380-2382)ttC>ttT	p.F794F	SLC8A3_ENST00000533541.1_Silent_p.F151F|SLC8A3_ENST00000528359.1_Silent_p.F792F|SLC8A3_ENST00000394330.2_Silent_p.F151F|SLC8A3_ENST00000357887.3_Silent_p.F792F|SLC8A3_ENST00000356921.2_Silent_p.F788F|SLC8A3_ENST00000216568.7_Silent_p.F165F|SLC8A3_ENST00000534137.1_Silent_p.F791F	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	794					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CAAATGCCACGAAAACAACAG	0.507000													7	21					0	0	1	0	0
RLTPR	146206	broad.mit.edu	37	16	67682087	67682087	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr16:67682087G>A	ENST00000334583.6	+	14	1532	c.1204G>A	c.(1204-1206)Gga>Aga	p.G402R	RLTPR_ENST00000545661.1_Intron	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	402										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CTGGAGGGCGGGACGGGGAGG	0.692000													17	10					0	0	1	0	0
DMXL1	1657	broad.mit.edu	37	5	118485072	118485072	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:118485072C>T	ENST00000311085.8	+	18	3630	c.3550C>T	c.(3550-3552)Cct>Tct	p.P1184S	DMXL1_ENST00000539542.1_Missense_Mutation_p.P1184S	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1184										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CCTGGCATTTCCTCTCTGGGA	0.443000													110	115					0	0	1	0	0
ERCC6-PGBD3	101243544	broad.mit.edu	37	10	50723953	50723953	+	Missense_Mutation	SNP	A	A	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr10:50723953A>T	ENST00000515869.1	-	6	2732	c.2612T>A	c.(2611-2613)aTt>aAt	p.I871N	PGBD3_ENST00000374127.3_Missense_Mutation_p.I403N|PGBD3_ENST00000508005.2_Missense_Mutation_p.I403N|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.I871N|ERCC6_ENST00000355832.5_Intron|PGBD3_ENST00000603152.1_Missense_Mutation_p.I871N	NM_001277059.1	NP_001263988.1																					TTTGCCATCAATTCGATAATC	0.428000													40	82					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23884229	23884229	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:23884229C>T	ENST00000355349.3	-	37	5696	c.5534G>A	c.(5533-5535)cGg>cAg	p.R1845Q		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1845			R -> W (in MYOMS and SPMM; dbSNP:rs28933098).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CTTGATGCGCCGCTCGCTCTT	0.627000													107	137					0	0	1	0	0
TREX1	11277	broad.mit.edu	37	3	48508989	48508989	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:48508989C>T	ENST00000296443.9	+	3	1822	c.935C>T	c.(934-936)cCt>cTt	p.P312L	TREX1_ENST00000456089.1_Missense_Mutation_p.P173L|TREX1_ENST00000433541.1_Missense_Mutation_p.P173L|TREX1_ENST00000444177.1_Missense_Mutation_p.P302L|TREX1_ENST00000436480.2_Missense_Mutation_p.P312L|TREX1_ENST00000422277.2_Missense_Mutation_p.P367L			Q9NSU2	TREX1_HUMAN	three prime repair exonuclease 1	367					cell death|DNA recombination|DNA replication|mismatch repair	nuclear envelope	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|metal ion binding|MutLalpha complex binding|MutSalpha complex binding|protein homodimerization activity|single-stranded DNA binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CTGGCCACACCTGGGGAGTAG	0.592000													21	22					0	0	1	0	0
CPA4	51200	broad.mit.edu	37	7	129951878	129951878	+	Splice_Site	SNP	G	G	A	rs147548483	byFrequency	TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:129951878G>A	ENST00000222482.4	+	10	1022	c.993_splice	c.e10-1	p.D332_splice	CPA4_ENST00000493259.1_Splice_Site_p.D228_splice|CPA4_ENST00000445470.2_Splice_Site_p.D299_splice	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	332					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					CCCTTCCCAGGACAAGGTGGC	0.557000													10	32					0	0	1	0	0
DCLRE1B	64858	broad.mit.edu	37	1	114454805	114454805	+	Missense_Mutation	SNP	C	C	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:114454805C>A	ENST00000369563.3	+	4	2037	c.1591C>A	c.(1591-1593)Ccc>Acc	p.P531T	DCLRE1B_ENST00000466480.1_3'UTR	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	531					cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATACCATAAACCCTGCTGAAG	0.448000								Other identified genes with known or suspected DNA repair function					38	52					8.05096e-08	8.15821e-08	1	1	0
ABCB11	8647	broad.mit.edu	37	2	169833151	169833151	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:169833151C>T	ENST00000263817.6	-	12	1368	c.1244G>A	c.(1243-1245)cGa>cAa	p.R415Q		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	415			R -> Q.		bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	ACCCTTGATTCGATCCAACTT	0.413000													17	31					0	0	1	0	0
CADPS2	93664	broad.mit.edu	37	7	122091463	122091463	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:122091463G>A	ENST00000334010.7	-	14	2677	c.2256C>T	c.(2254-2256)ctC>ctT	p.L752L	CADPS2_ENST00000449022.2_Silent_p.L751L|CADPS2_ENST00000313070.7_Silent_p.L748L|CADPS2_ENST00000412584.2_Silent_p.L748L	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	751					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						AAAGGGAAGAGAGTCTCTCTT	0.303000													20	29					0	0	1	0	0
OTOP2	92736	broad.mit.edu	37	17	72926463	72926463	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:72926463C>T	ENST00000331427.4	+	6	825	c.733C>T	c.(733-735)Ccc>Tcc	p.P245S	OTOP2_ENST00000580223.1_Missense_Mutation_p.P245S	NM_178160.2	NP_835454.1	Q7RTS6	OTOP2_HUMAN	otopetrin 2	245						integral to membrane				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					CTACCTATATCCCTTCAACAT	0.572000													114	220					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13753419	13753419	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:13753419G>A	ENST00000265104.4	-	63	10899	c.10795C>T	c.(10795-10797)Cgt>Tgt	p.R3599C		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3599	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AAAGGGTAACGAGATGCCTTC	0.373000									Kartagener syndrome				82	44					0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140474818	140474818	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:140474818C>T	ENST00000194155.4	+	1	592	c.444C>T	c.(442-444)atC>atT	p.I148I		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		148	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGAAAGTATCACTCCTGGAA	0.408000													23	40					0	0	1	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212662	26212662	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chrX:26212662C>T	ENST00000379034.1	+	2	848	c.699C>T	c.(697-699)ttC>ttT	p.F233F		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	233	MAGE.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						AGCCCTACTTCCCTCAGATCC	0.498000													57	22					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9076527	9076527	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:9076527G>A	ENST00000397910.4	-	3	11122	c.10919C>T	c.(10918-10920)aCc>aTc	p.T3640I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3641	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GACCAGGCTGGTTCCAATGAC	0.458000													38	48					0	0	1	0	0
ITGA1	3672	broad.mit.edu	37	5	52183738	52183738	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:52183738C>T	ENST00000282588.6	+	8	1323	c.865C>T	c.(865-867)Cga>Tga	p.R289*		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	289	VWFA.				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				TGACAATCATCGACTGAAGAA	0.428000													33	61					0	0	1	0	0
ISPD	729920	broad.mit.edu	37	7	16415867	16415867	+	Splice_Site	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:16415867C>T	ENST00000407010.2	-	3	534		c.e3-1		ISPD_ENST00000399310.3_Intron	NM_001101426.3	NP_001094896.1	A4D126	ISPD_HUMAN	isoprenoid synthase domain containing						isoprenoid biosynthetic process		nucleotidyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9						CTCCTGCTGCCTGAAGAACAA	0.418000										Multiple Myeloma(15;0.18)			17	43					0	0	1	0	0
ARID5A	10865	broad.mit.edu	37	2	97216949	97216949	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:97216949C>T	ENST00000454558.2	+	7	1657	c.480C>T	c.(478-480)tcC>tcT	p.S160S	ARID5A_ENST00000357485.3_Silent_p.S228S			Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	228					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						CTTCTGTGTCCTTTGTGGGTG	0.597000													39	65					0	0	1	0	0
TOR4A	54863	broad.mit.edu	37	9	140173349	140173349	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr9:140173349G>A	ENST00000357503.2	+	2	404	c.208G>A	c.(208-210)Gac>Aac	p.D70N		NM_017723.2	NP_060193.2	Q9NXH8	CI167_HUMAN	torsin family 4, member A	70					chaperone mediated protein folding requiring cofactor	integral to membrane	ATP binding|nucleoside-triphosphatase activity										ACCGCGCGCGGACCTGGACCA	0.736000													4	4					0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73152280	73152280	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr9:73152280C>T	ENST00000377110.2	-	25	3956	c.3713G>A	c.(3712-3714)aGa>aAa	p.R1238K	TRPM3_ENST00000360823.2_Missense_Mutation_p.R1100K|TRPM3_ENST00000357533.2_Missense_Mutation_p.R1242K|TRPM3_ENST00000423814.3_Missense_Mutation_p.R1265K|TRPM3_ENST00000396285.1_Missense_Mutation_p.R1097K|TRPM3_ENST00000396280.5_Missense_Mutation_p.R1087K|TRPM3_ENST00000408909.2_Missense_Mutation_p.R1097K|TRPM3_ENST00000396292.4_Missense_Mutation_p.R1110K|TRPM3_ENST00000377105.1_Missense_Mutation_p.R1097K|TRPM3_ENST00000377111.2_Missense_Mutation_p.R1238K|TRPM3_ENST00000377106.1_Missense_Mutation_p.R1110K|TRPM3_ENST00000358082.3_Missense_Mutation_p.R1100K	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1263						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GGAGTGCTCTCTCTCGTTGAC	0.602000													26	8					0	0	1	0	0
MAN2A2	4122	broad.mit.edu	37	15	91448661	91448661	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr15:91448661C>T	ENST00000360468.3	+	2	331	c.313C>T	c.(313-315)Cgg>Tgg	p.R105W	MAN2A2_ENST00000559717.1_Missense_Mutation_p.R105W	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	105					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			ACCGGAGCCCCGGCCCAGCTT	0.657000													47	40					0	0	1	0	0
ABHD16B	140701	broad.mit.edu	37	20	62493878	62493878	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr20:62493878G>A	ENST00000369916.3	+	1	1313	c.985G>A	c.(985-987)Ggc>Agc	p.G329S		NM_080622.3	NP_542189.1	Q9H3Z7	ABHGB_HUMAN	abhydrolase domain containing 16B	329							hydrolase activity			endometrium(2)|kidney(1)|lung(3)	6						CAGCACTTCGGGCCGCCTGCG	0.697000													5	13					0	0	1	0	0
PODN	127435	broad.mit.edu	37	1	53544340	53544340	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:53544340G>A	ENST00000371500.3	+	10	1586	c.1245G>A	c.(1243-1245)atG>atA	p.M415I	RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000312553.5_Missense_Mutation_p.M434I|PODN_ENST00000395871.2_Missense_Mutation_p.M292I	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN	podocan	386					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GCACCCTCATGATCCTGCACA	0.632000													90	154					0	0	1	0	0
PLEK	5341	broad.mit.edu	37	2	68620305	68620305	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:68620305G>A	ENST00000234313.7	+	7	953	c.774G>A	c.(772-774)agG>agA	p.R258R		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	258	PH 2.				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		GGCATAGAAGGAAAAACTGGA	0.428000													54	127					0	0	1	0	0
DNMT1	1786	broad.mit.edu	37	19	10252841	10252841	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:10252841G>A	ENST00000340748.4	-	29	3359	c.3124C>T	c.(3124-3126)Ctc>Ttc	p.L1042F	DNMT1_ENST00000589538.1_5'UTR|DNMT1_ENST00000540357.1_Missense_Mutation_p.L1042F|DNMT1_ENST00000359526.4_Missense_Mutation_p.L1058F			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1042	BAH 2.				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	CTCCAGTAGAGCAGGTTGATG	0.627000													35	52					0	0	1	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45475630	45475630	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr21:45475630C>T	ENST00000291574.4	+	5	709	c.534C>T	c.(532-534)tcC>tcT	p.S178S	TRAPPC10_ENST00000380221.3_Silent_p.S178S	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	178					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						CTCAGGAATCCTGGAATGCCT	0.473000													76	133					0	0	1	0	0
HNF4A	3172	broad.mit.edu	37	20	43052891	43052891	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr20:43052891G>A	ENST00000316099.3	+	8	1215	c.1126G>A	c.(1126-1128)Gga>Aga	p.G376R	HNF4A_ENST00000457232.1_Missense_Mutation_p.G354R|HNF4A_ENST00000443598.2_Missense_Mutation_p.G376R|HNF4A_ENST00000415691.1_Missense_Mutation_p.G376R	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	376					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GATGCTGCTGGGAGGTCCGTG	0.607000													9	21					0	0	1	0	0
BAZ2A	11176	broad.mit.edu	37	12	57005372	57005372	+	Missense_Mutation	SNP	A	A	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:57005372A>T	ENST00000179765.5	-	8	1764	c.1565T>A	c.(1564-1566)cTt>cAt	p.L522H	BAZ2A_ENST00000551812.1_Missense_Mutation_p.L554H|BAZ2A_ENST00000549884.1_Missense_Mutation_p.L552H|BAZ2A_ENST00000379441.3_Missense_Mutation_p.L524H			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	554					chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						TTGGAGGGGAAGACGAACTTC	0.413000													17	26					0	0	1	0	0
OTOR	56914	broad.mit.edu	37	20	16729556	16729556	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr20:16729556G>A	ENST00000246081.2	+	2	204	c.160G>A	c.(160-162)Gac>Aac	p.D54N		NM_020157.2	NP_064542.1	Q9NRC9	OTOR_HUMAN	otoraplin	54	SH3.				sensory perception of sound	extracellular region		p.D54N(1)		breast(1)|central_nervous_system(1)|endometrium(1)|liver(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						TAATGCCCCGGACTGTAGATT	0.363000													18	32					0	0	1	0	0
URB2	9816	broad.mit.edu	37	1	229772852	229772852	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:229772852C>T	ENST00000258243.2	+	4	2628	c.2492C>T	c.(2491-2493)tCa>tTa	p.S831L		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	831						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CAGCGTGACTCAGGTCTTGTC	0.493000													54	85					0	0	1	0	0
TUBGCP3	10426	broad.mit.edu	37	13	113174322	113174322	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr13:113174322G>A	ENST00000261965.3	-	15	1945	c.1759C>T	c.(1759-1761)Cgt>Tgt	p.R587C	TUBGCP3_ENST00000375669.3_Missense_Mutation_p.R587C	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	587					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton	p.R587S(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					GTAGCTGGACGGACAAGTTCT	0.348000													120	91					0	0	1	0	0
SIRPB1	10326	broad.mit.edu	37	20	1585397	1585397	+	Missense_Mutation	SNP	T	T	C	rs148754551	by1000genomes	TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr20:1585397T>C	ENST00000279477.7	-	3	806	c.742A>G	c.(742-744)Acc>Gcc	p.T248A	SIRPB1_ENST00000381605.4_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A|SIRPB1_ENST00000381603.3_Intron	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	248					cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	p.T248A(5)		central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CCTCGGATGGTCTCAGACAAG	0.627000													5	40					0	0	1	0	0
CCDC147	159686	broad.mit.edu	37	10	106130743	106130743	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr10:106130743G>A	ENST00000369704.3	+	7	1155	c.1021G>A	c.(1021-1023)Gaa>Aaa	p.E341K	CCDC147_ENST00000312902.5_5'UTR	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	341								p.E341*(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		GCACCACACCGAAGATCAAAA	0.393000													23	8					0	0	1	0	0
PPP2R1B	5519	broad.mit.edu	37	11	111636104	111636104	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:111636104C>T	ENST00000527614.1	-	2	184	c.119G>A	c.(118-120)cGa>cAa	p.R40Q	PPP2R1B_ENST00000393055.2_Missense_Mutation_p.R40Q|PPP2R1B_ENST00000341980.6_Missense_Mutation_p.R40Q|PPP2R1B_ENST00000426998.2_Intron|PPP2R1B_ENST00000311129.5_Missense_Mutation_p.R40Q|PPP2R1B_ENST00000427203.2_5'UTR	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	40							protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		ACTGTTGAGTCGGAGCTTCAG	0.373000													35	17					0	0	1	0	0
SCPEP1	59342	broad.mit.edu	37	17	55075817	55075817	+	Nonsense_Mutation	SNP	A	A	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:55075817A>T	ENST00000262288.3	+	10	1007	c.952A>T	c.(952-954)Aga>Tga	p.R318*		NM_021626.2	NP_067639.1	Q9HB40	RISC_HUMAN	serine carboxypeptidase 1	318					proteolysis	extracellular region	serine-type carboxypeptidase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14	Breast(9;2.86e-08)					TGGCCCCATCAGAAAGAAGCT	0.443000													38	58					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9391729	9391729	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr20:9391729C>T	ENST00000378501.2	+	21	2024	c.2009C>T	c.(2008-2010)tCg>tTg	p.S670L	PLCB4_ENST00000278655.4_Missense_Mutation_p.S670L|PLCB4_ENST00000378493.1_Missense_Mutation_p.S670L|PLCB4_ENST00000414679.2_Missense_Mutation_p.S682L|PLCB4_ENST00000334005.3_Missense_Mutation_p.S670L|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Missense_Mutation_p.S682L	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	670	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.S670L(1)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TATAATGGATCGTGCGGGTGA	0.363000													34	43					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38945876	38945876	+	Splice_Site	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:38945876G>A	ENST00000355481.4	+	14	1573	c.1440_splice	c.e14-1	p.G481_splice	RYR1_ENST00000360985.3_Splice_Site_p.G481_splice|RYR1_ENST00000359596.3_Splice_Site_p.G481_splice	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	481					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCATCCTAGGGGATGCTCTCC	0.502000											OREG0005269	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=RYR1|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	41	94					0	0	1	0	0
WDR88	126248	broad.mit.edu	37	19	33666309	33666309	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:33666309G>A	ENST00000355868.3	+	11	1326	c.1250G>A	c.(1249-1251)aGa>aAa	p.R417K	WDR88_ENST00000361680.2_3'UTR	NM_173479.3	NP_775750.3	Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	417										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					CAGTGCGAAAGATGTGACAGG	0.488000													53	128					0	0	1	0	0
UGT2A3	79799	broad.mit.edu	37	4	69798408	69798408	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr4:69798408G>A	ENST00000251566.4	-	3	964	c.934C>T	c.(934-936)Caa>Taa	p.Q312*	UGT2A3_ENST00000420231.2_Nonsense_Mutation_p.Q23*	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	312						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GTAACATTTTGAAACAGTGAC	0.403000													105	86					0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36691693	36691693	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr22:36691693C>T	ENST00000216181.5	-	26	3573	c.3343G>A	c.(3343-3345)Gaa>Aaa	p.E1115K		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1115					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TCCTGGAGTTCAGAGATCTGA	0.512000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				20	23					0	0	1	0	0
PNPLA6	10908	broad.mit.edu	37	19	7619900	7619900	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:7619900C>T	ENST00000221249.6	+	25	3073	c.2642C>T	c.(2641-2643)tCg>tTg	p.S881L	PNPLA6_ENST00000450331.3_Missense_Mutation_p.S881L|PNPLA6_ENST00000545201.2_Missense_Mutation_p.S854L|PNPLA6_ENST00000414982.3_Missense_Mutation_p.S929L|PNPLA6_ENST00000600737.1_Missense_Mutation_p.S919L	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	920					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						AGCTGGTGCTCGGGGCACCTG	0.711000													10	15					0	0	1	0	0
THBS4	7060	broad.mit.edu	37	5	79374023	79374023	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:79374023C>T	ENST00000350881.2	+	17	2428	c.2238C>T	c.(2236-2238)atC>atT	p.I746I	THBS4_ENST00000511733.1_Silent_p.I655I|CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	746	TSP C-terminal.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		ATGCCCAGATCGATCCCAACT	0.587000													16	13					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179641768	179641768	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:179641768C>T	ENST00000589042.1	-	28	5047	c.4823G>A	c.(4822-4824)gGa>gAa	p.G1608E	TTN_ENST00000591111.1_Missense_Mutation_p.G1608E|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G1562E|TTN_ENST00000359218.5_Missense_Mutation_p.G1562E|TTN_ENST00000360870.5_Missense_Mutation_p.G1608E|TTN_ENST00000342992.6_Missense_Mutation_p.G1608E|TTN_ENST00000460472.2_Missense_Mutation_p.G1562E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1344	Ig-like 7.						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)			TCCCTTGGTTCCTTCAATTCT	0.398000													29	37					0	0	1	0	0
VN1R4	317703	broad.mit.edu	37	19	53770208	53770208	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:53770208G>A	ENST00000311170.4	-	1	764	c.711C>T	c.(709-711)atC>atT	p.I237I		NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	237					response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		TGCTCACCAGGATGAGGATGC	0.502000										HNSCC(26;0.072)			8	16					0	0	1	0	0
LRRC20	55222	broad.mit.edu	37	10	72100313	72100313	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr10:72100313G>A	ENST00000355790.4	-	3	705	c.228C>T	c.(226-228)ctC>ctT	p.L76L	LRRC20_ENST00000395011.1_Intron|LRRC20_ENST00000358141.2_Intron|LRRC20_ENST00000395010.1_Silent_p.L76L|LRRC20_ENST00000373224.1_Silent_p.L76L	NM_001278212.1|NM_001278214.1|NM_207119.1	NP_001265141.1|NP_001265143.1|NP_997002.1	Q8TCA0	LRC20_HUMAN	leucine rich repeat containing 20	76										endometrium(2)|large_intestine(4)|lung(2)|urinary_tract(1)	9						GCCTACCTCGGAGCTGACTGA	0.597000													25	48					0	0	1	0	0
PDZRN4	29951	broad.mit.edu	37	12	41967339	41967339	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:41967339G>A	ENST00000298919.7	+	10	2366	c.1978G>A	c.(1978-1980)Gaa>Aaa	p.E660K	PDZRN4_ENST00000539469.2_Missense_Mutation_p.E662K|PDZRN4_ENST00000402685.2_Missense_Mutation_p.E920K			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	920							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				AAAGATCAAGGAAGAGCGGAG	0.527000													42	21					0	0	1	0	0
KCNK1	3775	broad.mit.edu	37	1	233750226	233750226	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:233750226C>T	ENST00000366621.3	+	1	477	c.309C>T	c.(307-309)gaC>gaT	p.D103D		NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	103						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	GGAACTGGGACTTCACCTCCG	0.677000													13	10					0	0	1	0	0
SLC7A2	6542	broad.mit.edu	37	8	17409438	17409438	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr8:17409438G>A	ENST00000470360.1	+	8	1235	c.1118G>A	c.(1117-1119)gGa>gAa	p.G373E	SLC7A2_ENST00000398090.3_Missense_Mutation_p.G373E|SLC7A2_ENST00000004531.10_Missense_Mutation_p.G373E|SLC7A2_ENST00000494857.1_Missense_Mutation_p.G333E|SLC7A2_ENST00000522656.1_Missense_Mutation_p.G333E			P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	333					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	GAATATGTGGGATGGGGTCCT	0.502000													33	19					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179613026	179613026	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:179613026C>T	ENST00000360870.5	-	46	14323	c.14101G>A	c.(14101-14103)Gaa>Aaa	p.E4701K	TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	813	Ig-like 27.						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)			ACTTCTTTTTCTAAAGAAATG	0.308000													30	39					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	148112655	148112655	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:148112655G>A	ENST00000361727.3	+	24	4459	c.3943G>A	c.(3943-3945)Gac>Aac	p.D1315N	CNTNAP2_ENST00000538075.1_Missense_Mutation_p.D374N|CNTNAP2_ENST00000463592.2_3'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1315					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CATGAACAACGACCCCAACTT	0.547000										HNSCC(39;0.1)			45	56					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54626042	54626042	+	Missense_Mutation	SNP	T	T	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr15:54626042T>A	ENST00000545554.1	+	15	4572	c.4572T>A	c.(4570-4572)ttT>ttA	p.F1524L	UNC13C_ENST00000537900.1_Missense_Mutation_p.F1522L|UNC13C_ENST00000260323.11_Missense_Mutation_p.F1524L			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1524					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GTATCACCTTTTTTAGGATGA	0.368000													7	3					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55539327	55539327	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr8:55539327G>A	ENST00000220676.1	+	4	3033	c.2885G>A	c.(2884-2886)gGa>gAa	p.G962E		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	962					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)			ACAAATTCTGGAAAAATAAGT	0.313000													36	50					0	0	1	0	0
KIR3DL1	3811	broad.mit.edu	37	19	55331457	55331457	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:55331457C>T	ENST00000391728.4	+	4	678	c.645C>T	c.(643-645)atC>atT	p.I215I	KIR3DL1_ENST00000541392.1_Silent_p.I215I|KIR3DL1_ENST00000326542.7_Silent_p.I215I|KIR3DL1_ENST00000538269.1_Silent_p.I215I|KIR3DL1_ENST00000358178.4_Silent_p.I120I|KIR3DL1_ENST00000402254.2_Silent_p.I215I	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1											breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CCCTGGACATCGTGGTCACAG	0.527000													89	123					0	0	1	0	0
PRAM1	84106	broad.mit.edu	37	19	8563776	8563776	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:8563776G>A	ENST00000423345.4	-	2	1436	c.916C>T	c.(916-918)Ccc>Tcc	p.P306S	PRAM1_ENST00000255612.3_Missense_Mutation_p.P306S			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	354	Pro-rich.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						GGCCTCTTGGGAAGCACGCTG	0.667000													15	19					0	0	1	0	0
CD6	923	broad.mit.edu	37	11	60785401	60785401	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:60785401C>T	ENST00000313421.7	+	11	1939	c.1753C>T	c.(1753-1755)Ccc>Tcc	p.P585S	CD6_ENST00000452451.2_Missense_Mutation_p.P544S|CD6_ENST00000346437.4_Missense_Mutation_p.P512S|CD6_ENST00000344028.5_Missense_Mutation_p.P553S|CD6_ENST00000352009.5_Missense_Mutation_p.P553S	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	585					cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						TCCATGGAACCCCCAGGTGTT	0.582000													44	87					0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84582036	84582036	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr15:84582036C>T	ENST00000286744.5	+	16	2117	c.1893C>T	c.(1891-1893)tcC>tcT	p.S631S	ADAMTSL3_ENST00000567476.1_Silent_p.S631S	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	631						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GCCCGGCCTCCCGAGAGCTAG	0.607000													25	23					0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	22068759	22068759	+	Missense_Mutation	SNP	A	A	G			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:22068759A>G	ENST00000261200.4	-	5	658	c.659T>C	c.(658-660)gTg>gCg	p.V220A	ABCC9_ENST00000261201.4_Missense_Mutation_p.V220A|ABCC9_ENST00000345162.2_Missense_Mutation_p.V220A	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	220					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)	CAGCAAATTCACAAATGGTTG	0.378000													38	40					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127685680	127685680	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:127685680C>T	ENST00000508053.1	-	28	3804	c.2830G>A	c.(2830-2832)Ggg>Agg	p.G944R	FBN2_ENST00000262464.4_Missense_Mutation_p.G944R|FBN2_ENST00000508989.1_Missense_Mutation_p.G911R			P35556	FBN2_HUMAN	fibrillin 2	944	TB 4.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CTGGCAAGCCCTCTTGGGCAA	0.358000													35	29					0	0	1	0	0
METTL21B	25895	broad.mit.edu	37	12	58174276	58174276	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:58174276C>T	ENST00000300209.8	+	3	653	c.528C>T	c.(526-528)atC>atT	p.I176I	METTL21B_ENST00000333012.5_3'UTR|RP11-571M6.15_ENST00000553083.1_Intron|METTL21B_ENST00000551420.1_5'UTR|RP11-571M6.15_ENST00000471530.1_Intron	NM_015433.2	NP_056248.2	Q96AZ1	MT21B_HUMAN	methyltransferase like 21B	176						integral to membrane|intracellular	methyltransferase activity			endometrium(1)|lung(1)	2						ATGGCACCATCTATCTGGCCT	0.587000													15	29					0	0	1	0	0
GPATCH1	55094	broad.mit.edu	37	19	33604796	33604796	+	Missense_Mutation	SNP	C	C	G			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:33604796C>G	ENST00000170564.2	+	14	2330	c.2016C>G	c.(2014-2016)caC>caG	p.H672Q		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	672						catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					TATCACAGCACCGAGGTCCCG	0.527000													18	23					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82456635	82456635	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:82456635C>T	ENST00000370728.1	+	25	4831	c.4186C>T	c.(4186-4188)Ccc>Tcc	p.P1396S	LPHN2_ENST00000370723.1_Missense_Mutation_p.P1398S|LPHN2_ENST00000370715.1_3'UTR|LPHN2_ENST00000271029.4_Missense_Mutation_p.P1368S|LPHN2_ENST00000335786.5_Missense_Mutation_p.P1353S|LPHN2_ENST00000370725.1_Missense_Mutation_p.P1411S|LPHN2_ENST00000359929.3_Missense_Mutation_p.P1340S|LPHN2_ENST00000394879.1_Missense_Mutation_p.P1398S|LPHN2_ENST00000370713.1_3'UTR|LPHN2_ENST00000370730.1_Missense_Mutation_p.P1353S|LPHN2_ENST00000319517.6_Missense_Mutation_p.P1340S|LPHN2_ENST00000370717.2_Missense_Mutation_p.P1411S|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000370727.1_Missense_Mutation_p.P1368S|LPHN2_ENST00000370721.1_Missense_Mutation_p.P1321S			O95490	LPHN2_HUMAN	latrophilin 2	1396					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AGACCTCTCTCCCTCCAGGAG	0.502000													40	66					0	0	1	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100453015	100453015	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:100453015C>T	ENST00000279907.7	-	14	2252	c.2040G>A	c.(2038-2040)ttG>ttA	p.L680L	UHRF1BP1L_ENST00000545232.2_Silent_p.L330L	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	680										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TGTTTTTATTCAATTGGGGAG	0.343000													28	13					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179542471	179542471	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:179542471C>T	ENST00000589042.1	-	146	34392	c.34168G>A	c.(34168-34170)Gaa>Aaa	p.E11390K	TTN_ENST00000591111.1_Missense_Mutation_p.E11073K|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E10146K|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11073	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTGGAATTTCCTCTTCTTCA	0.433000													77	106					0	0	1	0	0
PDE1A	5136	broad.mit.edu	37	2	183104852	183104852	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:183104852C>T	ENST00000435564.1	-	3	583	c.383G>A	c.(382-384)gGa>gAa	p.G128E	PDE1A_ENST00000331935.6_Missense_Mutation_p.G128E|PDE1A_ENST00000351439.5_Missense_Mutation_p.G112E|PDE1A_ENST00000482538.1_5'UTR|PDE1A_ENST00000346717.4_Missense_Mutation_p.G94E|PDE1A_ENST00000456212.1_Missense_Mutation_p.G128E|PDE1A_ENST00000410103.1_Missense_Mutation_p.G128E|PDE1A_ENST00000409365.1_Missense_Mutation_p.G112E|PDE1A_ENST00000358139.2_Missense_Mutation_p.G128E|PDE1A_ENST00000536095.1_Missense_Mutation_p.G24E	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	128					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			CACAAAAATTCCAGCTTGAAC	0.388000													32	55					0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88420231	88420231	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr15:88420231C>T	ENST00000394480.1	-	19	2734	c.2413G>A	c.(2413-2415)Gag>Aag	p.E805K	NTRK3_ENST00000557856.1_Missense_Mutation_p.E797K|NTRK3_ENST00000360948.2_Missense_Mutation_p.E819K|NTRK3_ENST00000357724.2_Missense_Mutation_p.E811K|NTRK3_ENST00000355254.2_Missense_Mutation_p.E805K	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	819	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TTGTAGATCTCCTTGATGTTC	0.542000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			58	14					0	0	1	0	0
PROC	5624	broad.mit.edu	37	2	128183669	128183669	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:128183669C>T	ENST00000453608.2	+	6	717	c.709C>T	c.(709-711)Cct>Tct	p.P237S	PROC_ENST00000409048.1_Missense_Mutation_p.P216S|PROC_ENST00000234071.3_Missense_Mutation_p.P182S|PROC_ENST00000422777.3_Missense_Mutation_p.P182S			P04070	PROC_HUMAN	protein C (inactivator of coagulation factors Va and VIIIa)	182	Peptidase S1.				blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	AGTGAAGTTCCCTTGTGGGAG	0.592000													39	42					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49694044	49694044	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:49694044C>T	ENST00000296452.4	+	5	7169	c.7055C>T	c.(7054-7056)cCa>cTa	p.P2352L		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2352					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CTCAGCCGGCCAGGGTTCGAG	0.647000													10	10					0	0	1	0	0
RMDN2	151393	broad.mit.edu	37	2	38216753	38216753	+	Silent	SNP	C	C	T	rs146170943		TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:38216753C>T	ENST00000407257.1	+	6	1542	c.1395C>T	c.(1393-1395)ctC>ctT	p.L465L	RMDN2_ENST00000234195.3_Silent_p.L465L|RMDN2_ENST00000417700.2_Silent_p.L142L|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000406384.1_Silent_p.L287L|RMDN2_ENST00000354545.2_Silent_p.L287L					regulator of microtubule dynamics 2																		ATGGGCACCTCTTCAAGGTAT	0.308000													24	40					0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71495071	71495071	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:71495071C>T	ENST00000296755.7	+	5	6187	c.5889C>T	c.(5887-5889)acC>acT	p.T1963T		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1963						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GTGAAAAGACCACCAGCCCCC	0.478000													85	79					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179611406	179611406	+	Missense_Mutation	SNP	C	C	T	rs147119153		TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:179611406C>T	ENST00000360870.5	-	46	15943	c.15721G>A	c.(15721-15723)Gaa>Aaa	p.E5241K	TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	8760	Ig-like 33.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E5241K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTAGAAATTTCCAGTGAACAC	0.393000													28	74					0	0	1	0	0
LINGO4	339398	broad.mit.edu	37	1	151775136	151775136	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:151775136G>A	ENST00000368820.3	-	2	982	c.45C>T	c.(43-45)ccC>ccT	p.P15P		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	15						integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AAAGGAGCGGGGGCCATGGGG	0.602000													5	8					0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121748158	121748158	+	Silent	SNP	C	C	T	rs144803259		TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:121748158C>T	ENST00000452319.1	+	14	4728	c.4668C>T	c.(4666-4668)atC>atT	p.I1556I	GLI2_ENST00000314490.11_Intron|GLI2_ENST00000361492.4_Silent_p.I1556I			P10070	GLI2_HUMAN	GLI family zinc finger 2	1556					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)				TGCCCTCCATCCCCGCAGGCA	0.627000													92	115					0	0	1	0	0
CAPN13	92291	broad.mit.edu	37	2	30966411	30966411	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:30966411G>A	ENST00000295055.8	-	13	1459	c.1283C>T	c.(1282-1284)tCc>tTc	p.S428F	CAPN13_ENST00000534090.2_Missense_Mutation_p.S428F	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	428					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TCTGAACGAGGAAAAAAACAC	0.473000													64	83					0	0	1	0	0
MROH1	727957	broad.mit.edu	37	8	145223308	145223308	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr8:145223308C>T	ENST00000528919.1	+	3	254	c.133C>T	c.(133-135)Cgt>Tgt	p.R45C	MROH1_ENST00000398656.4_Missense_Mutation_p.R45C|MROH1_ENST00000423230.2_Missense_Mutation_p.R45C|MROH1_ENST00000326134.5_Missense_Mutation_p.R45C|MROH1_ENST00000534366.1_Missense_Mutation_p.R45C	NM_032450.2	NP_115826.2			maestro heat-like repeat family member 1																		GGAGACGCTCCGTGCCTGCGA	0.632000													24	36					0	0	1	0	0
PPP1R26	9858	broad.mit.edu	37	9	138377655	138377655	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr9:138377655C>T	ENST00000356818.2	+	4	1848	c.1299C>T	c.(1297-1299)acC>acT	p.T433T	PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000401470.3_Silent_p.T433T|PPP1R26_ENST00000605660.1_Silent_p.T433T|PPP1R26_ENST00000605286.1_Silent_p.T433T|PPP1R26_ENST00000604351.1_Silent_p.T433T	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN	protein phosphatase 1, regulatory subunit 26	433						nucleolus	protein binding										CCACCAAGACCATGGACCCTG	0.597000													22	26					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179604308	179604308	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:179604308G>A	ENST00000589042.1	-	48	13876	c.13652C>T	c.(13651-13653)cCt>cTt	p.P4551L	TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P4234L|TTN_ENST00000342175.6_Missense_Mutation_p.P4380L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P4313L|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Missense_Mutation_p.P4188L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4234	Ig-like 25.						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)			TTTAGTGACAGGTGTGGCATC	0.408000													29	32					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65266758	65266758	+	RNA	SNP	T	T	C			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:65266758T>C	ENST00000534336.1	+	0	1526					NR_002819.2																						AGATAAAAGGTTTCTAAAACA	0.313000													9	13					0	0	1	0	0
KIAA0368	23392	broad.mit.edu	37	9	114134037	114134037	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr9:114134037G>A	ENST00000259335.4	-	44	5134	c.5135C>T	c.(5134-5136)tCc>tTc	p.S1712F	KIAA0368_ENST00000338205.5_Missense_Mutation_p.S1534F|KIAA0368_ENST00000374378.3_5'UTR	NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						CATTTTCCAGGACTGAGACTG	0.423000													65	27					0	0	1	0	0
CABP5	56344	broad.mit.edu	37	19	48547137	48547137	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:48547137C>T	ENST00000293255.2	-	1	173	c.43G>A	c.(43-45)Ggc>Agc	p.G15S		NM_019855.4	NP_062829.1	Q9NP86	CABP5_HUMAN	calcium binding protein 5	15					signal transduction	cytoplasm	calcium ion binding			endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	11		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)		TCAGCAATGCCTTTCCTCAAG	0.642000													22	41					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10908841	10908841	+	Missense_Mutation	SNP	A	A	G			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr21:10908841A>G	ENST00000298232.7	-	22	1817	c.1450T>C	c.(1450-1452)Ttt>Ctt	p.F484L	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.F464L|TPTE_ENST00000361285.4_Missense_Mutation_p.F502L	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	502	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTTTCAATAAAAGATGTGTGC	0.303000													16	28					0	0	1	0	0
SYTL4	94121	broad.mit.edu	37	X	99945636	99945636	+	Splice_Site	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chrX:99945636C>T	ENST00000372981.1	-	7	828		c.e7-1		SYTL4_ENST00000454200.2_Splice_Site|SYTL4_ENST00000263033.5_Splice_Site|SYTL4_ENST00000276141.6_Splice_Site|SYTL4_ENST00000372989.1_Splice_Site|SYTL4_ENST00000455616.1_Splice_Site			Q96C24	SYTL4_HUMAN	synaptotagmin-like 4						exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGAGTCTCTCCTGGAGGTAGA	0.458000													20	8					0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1546234	1546234	+	Missense_Mutation	SNP	G	G	A	rs145095981		TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:1546234G>A	ENST00000337415.3	+	16	2751	c.2660G>A	c.(2659-2661)cGa>cAa	p.R887Q	TPO_ENST00000382198.1_Silent_p.P757P|TPO_ENST00000382201.3_Silent_p.P873P|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000349624.3_Silent_p.P757P|TPO_ENST00000346956.3_Silent_p.P886P|TPO_ENST00000345913.4_Silent_p.P930P|TPO_ENST00000329066.4_Silent_p.P930P			P07202	PERT_HUMAN	thyroid peroxidase	0					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	ACAGGCTGCCGAGAGCCCTCT	0.493000													19	27					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189526145	189526145	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:189526145G>A	ENST00000264731.3	+	4	498	c.409G>A	c.(409-411)Gac>Aac	p.D137N	TP63_ENST00000440651.2_Missense_Mutation_p.D137N|TP63_ENST00000392460.3_Missense_Mutation_p.D137N|TP63_ENST00000437221.1_Missense_Mutation_p.D43N|TP63_ENST00000456148.1_Missense_Mutation_p.D43N|TP63_ENST00000354600.5_Missense_Mutation_p.D43N|TP63_ENST00000320472.5_Missense_Mutation_p.D137N|TP63_ENST00000418709.2_Missense_Mutation_p.D137N|TP63_ENST00000449992.1_Intron|TP63_ENST00000382063.4_Intron|TP63_ENST00000392463.2_Missense_Mutation_p.D43N|TP63_ENST00000392461.3_Missense_Mutation_p.D43N	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	137					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)		CTATAACACAGACCACGCGCA	0.617000										HNSCC(45;0.13)			43	70					0	0	1	0	0
DDI1	414301	broad.mit.edu	37	11	103908034	103908034	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:103908034G>A	ENST00000302259.3	+	1	727	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	162					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CCTGCTCAAGGAACGCAACCC	0.622000													31	68					0	0	1	0	0
ZNF592	9640	broad.mit.edu	37	15	85326718	85326718	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr15:85326718G>A	ENST00000299927.3	+	1	834	c.812G>A	c.(811-813)aGg>aAg	p.R271K	ZNF592_ENST00000560079.2_Missense_Mutation_p.R271K			Q92610	ZN592_HUMAN	zinc finger protein 592	271					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GTCCCCCCTAGGCAGCGTCTA	0.557000													67	105					0	0	1	0	0
KLHL18	23276	broad.mit.edu	37	3	47371546	47371546	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:47371546G>A	ENST00000232766.5	+	4	527	c.507G>A	c.(505-507)gaG>gaA	p.E169E	KLHL18_ENST00000455924.2_Silent_p.E57E	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	169	BACK.									endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		ACTTTGTGGAGGTGTCCATGT	0.537000													27	49					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152512673	152512673	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:152512673C>T	ENST00000427231.2	-	49	6691	c.6489G>A	c.(6487-6489)caG>caA	p.Q2163Q	NEB_ENST00000172853.10_Silent_p.Q2163Q|NEB_ENST00000409198.1_Silent_p.Q2163Q|NEB_ENST00000603639.1_Silent_p.Q2163Q|NEB_ENST00000604864.1_Silent_p.Q2163Q|NEB_ENST00000397345.3_Silent_p.Q2163Q	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	2163					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTACATCACTCTGTATGCGAT	0.438000													140	226					0	0	1	0	0
STK33	65975	broad.mit.edu	37	11	8486364	8486364	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:8486364G>A	ENST00000447869.1	-	3	1263	c.345C>T	c.(343-345)atC>atT	p.I115I	STK33_ENST00000396673.1_Silent_p.I115I|STK33_ENST00000315204.1_Silent_p.I115I|STK33_ENST00000396672.1_Silent_p.I115I|STK33_ENST00000534493.1_Silent_p.I74I|STK33_ENST00000358872.3_5'UTR			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	115						Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		CAAAGGTATAGATTTCCTGGA	0.353000													33	53					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3241461	3241461	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chrX:3241461C>T	ENST00000217939.6	-	5	2419	c.2265G>A	c.(2263-2265)gaG>gaA	p.E755E		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	755						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)				CAACATTGGTCTCTGGTTCTT	0.433000													60	24					0	0	1	0	0
OR4L1	122742	broad.mit.edu	37	14	20528298	20528298	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:20528298C>T	ENST00000315683.1	+	1	95	c.95C>T	c.(94-96)tCc>tTc	p.S32F		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S32F(1)		central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		GTGACATTTTCCCTGATCTAC	0.383000													54	110					0	0	1	0	0
EPHA4	2043	broad.mit.edu	37	2	222298922	222298922	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:222298922G>A	ENST00000281821.2	-	14	2477	c.2436C>T	c.(2434-2436)atC>atT	p.I812I	EPHA4_ENST00000409854.1_Silent_p.I812I|EPHA4_ENST00000409938.1_Silent_p.I812I|EPHA4_ENST00000392071.4_Silent_p.I761I	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	812	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		CCCACATAACGATTCCATAGC	0.433000													47	71					0	0	1	0	0
HTR5A-AS1	100128264	broad.mit.edu	37	7	154862852	154862852	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:154862852C>T	ENST00000395731.2	-	1	415	c.162G>A	c.(160-162)atG>atA	p.M54I	AC093726.4_ENST00000543018.1_Missense_Mutation_p.M54I|AC093726.4_ENST00000493904.1_5'UTR|HTR5A_ENST00000287907.2_Silent_p.S81S																							TGGTGGCATCCATGGCCGTCT	0.687000													14	31					0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153588910	153588910	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chrX:153588910G>A	ENST00000422373.1	-	22	3501	c.3253C>T	c.(3253-3255)Ccc>Tcc	p.P1085S	FLNA_ENST00000360319.4_Missense_Mutation_p.P1085S|FLNA_ENST00000344736.4_Missense_Mutation_p.P1085S|FLNA_ENST00000369850.3_Missense_Mutation_p.P1085S	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1085					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AAGCGGGCGGGGGAGCCCGCA	0.687000											OREG0003593	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	43	12					0	0	1	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51645996	51645996	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:51645996C>T	ENST00000317643.6	+	1	439	c.370C>T	c.(370-372)Cgt>Tgt	p.R124C	SIGLEC7_ENST00000305628.7_Missense_Mutation_p.R124C|SIGLEC7_ENST00000600577.1_Missense_Mutation_p.R124C	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	124					cell adhesion	integral to plasma membrane	receptor activity|sugar binding	p.R124C(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		ATACTTCTTTCGTATGGAGAA	0.478000													47	65					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55542055	55542055	+	Silent	SNP	T	T	C			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr8:55542055T>C	ENST00000220676.1	+	4	5761	c.5613T>C	c.(5611-5613)ttT>ttC	p.F1871F		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1871					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)			CTCATTCCTTTATTTCTGCTG	0.413000													37	39					0	0	1	0	0
MAMLD1	10046	broad.mit.edu	37	X	149639732	149639732	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chrX:149639732C>T	ENST00000370401.2	+	4	2197	c.1887C>T	c.(1885-1887)gcC>gcT	p.A629A	MAMLD1_ENST00000262858.5_Silent_p.A629A|MAMLD1_ENST00000426613.2_Silent_p.A604A|MAMLD1_ENST00000432680.2_Silent_p.A604A|MAMLD1_ENST00000455522.2_Silent_p.A110A			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	629					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					GATCAGTGGCCTCAGATTCCA	0.493000													55	25					0	0	1	0	0
PGR	5241	broad.mit.edu	37	11	100998414	100998414	+	Missense_Mutation	SNP	T	T	C			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:100998414T>C	ENST00000325455.5	-	1	2841	c.1388A>G	c.(1387-1389)tAc>tGc	p.Y463C	PGR_ENST00000534013.1_Intron|PGR_ENST00000263463.5_Missense_Mutation_p.Y463C	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN	progesterone receptor	463	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	CTCCGCTTTGTACAGGATGCA	0.761000													8	7					0	0	1	0	0
TROAP	10024	broad.mit.edu	37	12	49717509	49717509	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:49717509G>A	ENST00000551245.1	+	2	229	c.118G>A	c.(118-120)Gtg>Atg	p.V40M	TROAP_ENST00000548311.1_Missense_Mutation_p.V40M|RP11-161H23.9_ENST00000553259.1_RNA|TROAP_ENST00000550709.1_Missense_Mutation_p.V40M|TROAP_ENST00000257909.3_Missense_Mutation_p.V40M|TROAP_ENST00000549534.1_Missense_Mutation_p.V40M|TROAP_ENST00000549275.1_Missense_Mutation_p.V40M|TROAP_ENST00000380327.5_Missense_Mutation_p.V40M			Q12815	TROAP_HUMAN	trophinin associated protein	40					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						ATCGTGCGCCGTGGACCAGGA	0.547000													66	145					0	0	1	0	0
RB1	5925	broad.mit.edu	37	13	48936978	48936978	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr13:48936978C>G	ENST00000267163.4	+	8	884	c.746C>G	c.(745-747)tCa>tGa	p.S249*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	249					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(6)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATTAATGGTTCACCTCGAACA	0.338000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			43	35					0	0	1	0	0
FAM83C	128876	broad.mit.edu	37	20	33874911	33874911	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr20:33874911G>A	ENST00000374408.3	-	4	1767	c.1671C>T	c.(1669-1671)ctC>ctT	p.L557L		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	557										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CTCGGGACAGGAGATCCAGCT	0.662000													16	28					0	0	1	0	0
INSR	3643	broad.mit.edu	37	19	7117251	7117251	+	Missense_Mutation	SNP	T	T	C			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:7117251T>C	ENST00000341500.5	-	21	3968	c.3929A>G	c.(3928-3930)gAg>gGg	p.E1310G	INSR_ENST00000302850.5_Missense_Mutation_p.E1322G	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	1322					activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	p.E1322G(1)		breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTCCATGTCCTCAAACTCCAT	0.617000													51	75					0	0	1	0	0
RBM5	10181	broad.mit.edu	37	3	50131270	50131270	+	Missense_Mutation	SNP	A	A	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:50131270A>T	ENST00000347869.3	+	4	476	c.301A>T	c.(301-303)Atg>Ttg	p.M101L	RBM5_ENST00000469838.1_Missense_Mutation_p.M101L	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	101	RRM 1.				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CAAGACCATCATGCTGCGCGG	0.502000													56	77					0	0	1	0	0
SIRPG	55423	broad.mit.edu	37	20	1629868	1629868	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr20:1629868C>T	ENST00000381580.1	-	2	340	c.161G>A	c.(160-162)aGg>aAg	p.R54K	SIRPG_ENST00000344103.4_Missense_Mutation_p.R87K|SIRPG_ENST00000216927.4_Missense_Mutation_p.R87K|SIRPG_ENST00000381583.2_Missense_Mutation_p.R87K|SIRPG_ENST00000303415.3_Missense_Mutation_p.R87K			Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	87	Ig-like V-type.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						TGTTGTTACCCTGGGGAAGTG	0.512000													48	82					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11583139	11583139	+	Missense_Mutation	SNP	G	G	A	rs140587305	byFrequency	TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:11583139G>A	ENST00000262442.3	+	18	3487	c.3419G>A	c.(3418-3420)gGa>gAa	p.G1140E	DNAH9_ENST00000454412.2_Missense_Mutation_p.G1140E	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1140	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GTTGAAAAAGGAGATTTCCAA	0.423000													53	91					0	0	1	0	0
PHF8	23133	broad.mit.edu	37	X	54014369	54014369	+	Missense_Mutation	SNP	C	C	G			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chrX:54014369C>G	ENST00000338154.6	-	15	2243	c.1739G>C	c.(1738-1740)aGg>aCg	p.R580T	PHF8_ENST00000322659.8_Missense_Mutation_p.R580T|PHF8_ENST00000357988.5_Missense_Mutation_p.R616T|PHF8_ENST00000338946.6_Missense_Mutation_p.R479T	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	616					brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						ACTCTTCACCCTTTTCGTACT	0.423000													17	7					0	0	1	0	0
LYSMD1	388695	broad.mit.edu	37	1	151133436	151133436	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:151133436G>A	ENST00000368908.5	-	3	1266	c.606C>T	c.(604-606)gtC>gtT	p.V202V	LYSMD1_ENST00000440902.2_Silent_p.V154V	NM_212551.4	NP_997716.1	Q96S90	LYSM1_HUMAN	LysM, putative peptidoglycan-binding, domain containing 1	202					cell wall macromolecule catabolic process					endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CAGGACCTAGGACTGCTCGTT	0.572000													42	57					0	0	1	0	0
FASTKD1	79675	broad.mit.edu	37	2	170386370	170386370	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:170386370C>T	ENST00000453153.2	-	15	2855	c.2509G>A	c.(2509-2511)Gaa>Aaa	p.E837K	FASTKD1_ENST00000495505.1_5'UTR|FASTKD1_ENST00000453929.2_Missense_Mutation_p.E794K	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	837	RAP.				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						AATATACATTCTCTCAGGTAG	0.338000													20	44					0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	94120810	94120810	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr6:94120810G>A	ENST00000369303.4	-	3	425	c.241C>T	c.(241-243)Caa>Taa	p.Q81*	EPHA7_ENST00000369297.1_Nonsense_Mutation_p.Q81*	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	81						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CAGTTGTTTTGGTTGGGCTCC	0.428000													59	126					0	0	1	0	0
OR13C3	138803	broad.mit.edu	37	9	107298816	107298816	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr9:107298816C>T	ENST00000374781.2	-	1	321	c.279G>A	c.(277-279)ctG>ctA	p.L93L		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						AGAGGTTGCCCAGGAAGAAGT	0.393000													35	64					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201046079	201046079	+	Missense_Mutation	SNP	T	T	C			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:201046079T>C	ENST00000362061.3	-	12	2022	c.1796A>G	c.(1795-1797)aAc>aGc	p.N599S	CACNA1S_ENST00000367338.3_Missense_Mutation_p.N599S	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	599					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TTGGGGAAAGTTGTCAAAGTT	0.537000													61	101					0	0	1	0	0
DDI1	414301	broad.mit.edu	37	11	103908033	103908033	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:103908033G>A	ENST00000302259.3	+	1	726	c.483G>A	c.(481-483)aaG>aaA	p.K161K	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	161					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CCCTGCTCAAGGAACGCAACC	0.622000													31	68					0	0	1	0	0
VWCE	220001	broad.mit.edu	37	11	61026747	61026747	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:61026747G>A	ENST00000335613.5	-	20	2654	c.2268C>T	c.(2266-2268)tcC>tcT	p.S756S	VWCE_ENST00000535710.1_Silent_p.S221S	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	756						extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TTCCGTGAGGGGAGAGCCCCT	0.582000													27	50					0	0	1	0	0
GALNT10	55568	broad.mit.edu	37	5	153677519	153677519	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:153677519G>A	ENST00000297107.6	+	3	418	c.281G>A	c.(280-282)aGa>aAa	p.R94K	GALNT10_ENST00000377661.2_Missense_Mutation_p.R94K|GALNT10_ENST00000425427.2_Missense_Mutation_p.R94K	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)	94						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GAACAAGGAAGACCTTACCCC	0.418000													64	74					0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136597335	136597335	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr6:136597335G>A	ENST00000531224.1	-	5	1580	c.1328C>T	c.(1327-1329)tCa>tTa	p.S443L	BCLAF1_ENST00000392348.2_Missense_Mutation_p.S441L|BCLAF1_ENST00000527536.1_Missense_Mutation_p.S443L|BCLAF1_ENST00000527759.1_Missense_Mutation_p.S441L|BCLAF1_ENST00000353331.4_Missense_Mutation_p.S441L|BCLAF1_ENST00000530767.1_Intron	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	443					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GCCTTTCAGTGAAACTTTGGA	0.398000													49	94					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													5	55					0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23768735	23768735	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:23768735G>A	ENST00000354639.3	+	6	745	c.281G>A	c.(280-282)gGa>gAa	p.G94E	STK31_ENST00000428484.1_Missense_Mutation_p.G94E|STK31_ENST00000355870.3_Missense_Mutation_p.G117E|STK31_ENST00000433467.2_Missense_Mutation_p.G117E|STK31_ENST00000405627.3_3'UTR	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	117	Tudor.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ATTGACTATGGAAATACTGAA	0.358000													33	44					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141709478	141709478	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:141709478G>A	ENST00000389484.3	-	19	3890	c.2919C>T	c.(2917-2919)ttC>ttT	p.F973F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	973	LDL-receptor class A 6.				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)		TTTTGCATACGAATTGGGTTA	0.418000										TSP Lung(27;0.18)			23	37					0	0	1	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35129938	35129938	+	RNA	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:35129938C>T	ENST00000436258.1	-	0	3431																											TCACTTAGTTCTCACAACACA	0.318000													55	97					0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54917207	54917207	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:54917207C>T	ENST00000293373.6	+	19	1987	c.1908C>T	c.(1906-1908)atC>atT	p.I636I	NCKAP1L_ENST00000545638.2_Silent_p.I586I	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	636					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						CCACTACAATCAGCAAAGCCA	0.478000													89	143					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124281777	124281777	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:124281777G>A	ENST00000360013.3	+	34	5144	c.5017G>A	c.(5017-5019)Gta>Ata	p.V1673I	KALRN_ENST00000393496.1_Missense_Mutation_p.V46I	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1673	SH3 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GGGGCAGACGGTAGAGCTGCT	0.662000													17	21					0	0	1	0	0
HERC2P3	283755	broad.mit.edu	37	15	20657730	20657730	+	RNA	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr15:20657730G>A	ENST00000428453.1	-	0	2228																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						TCACCAGGAGGAAGTGGGCTT	0.607000													19	24					0	0	1	0	0
EYS	346007	broad.mit.edu	37	6	66204770	66204770	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr6:66204770C>T	ENST00000503581.1	-	4	1071	c.534G>A	c.(532-534)ctG>ctA	p.L178L	EYS_ENST00000393380.2_Silent_p.L178L|EYS_ENST00000370616.2_Silent_p.L178L|EYS_ENST00000370618.3_Silent_p.L178L|EYS_ENST00000342421.5_Silent_p.L178L|EYS_ENST00000370621.3_Silent_p.L178L	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	178	EGF-like 1.				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						ATTCTGAACTCAGAGATTCCT	0.438000													37	36					0	0	1	0	0
POLR1A	25885	broad.mit.edu	37	2	86310220	86310220	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:86310220G>A	ENST00000263857.6	-	7	1180	c.802C>T	c.(802-804)Ctg>Ttg	p.L268L	POLR1A_ENST00000409681.1_Silent_p.L268L			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	268					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						TTCTTCCACAGGGCAGAAAGG	0.453000													23	35					0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119952868	119952868	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr4:119952868C>T	ENST00000307142.4	+	4	3134	c.2938C>T	c.(2938-2940)Caa>Taa	p.Q980*	SYNPO2_ENST00000434046.2_Nonsense_Mutation_p.Q980*|SYNPO2_ENST00000429713.2_Nonsense_Mutation_p.Q980*|SYNPO2_ENST00000448416.2_Intron	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	980						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GTTTACTTTCCAACCTCCAGA	0.502000													15	34					0	0	1	0	0
CD1E	913	broad.mit.edu	37	1	158324277	158324277	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:158324277G>A	ENST00000368160.3	+	2	169	c.169G>A	c.(169-171)Gga>Aga	p.G57R	CD1E_ENST00000368165.3_Missense_Mutation_p.G57R|CD1E_ENST00000464822.1_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368156.1_Missense_Mutation_p.G57R|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000434258.1_Missense_Mutation_p.G55R|CD1E_ENST00000368155.3_Missense_Mutation_p.G57R|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368163.3_Missense_Mutation_p.G57R|CD1E_ENST00000368167.3_Missense_Mutation_p.G57R|CD1E_ENST00000368161.3_Missense_Mutation_p.G57R|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000368154.1_Intron	NM_001042583.2	NP_001036048.1	P15812	CD1E_HUMAN	CD1e molecule	57					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TGAGGGCTCAGGATGGCTGGG	0.562000													41	69					0	0	1	0	0
SNX24	28966	broad.mit.edu	37	5	122272495	122272495	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:122272495C>T	ENST00000261369.4	+	2	312	c.127C>T	c.(127-129)Cat>Tat	p.H43Y	SNX24_ENST00000395451.4_Missense_Mutation_p.H76Y|SNX24_ENST00000511211.1_3'UTR|SNX24_ENST00000506996.1_Missense_Mutation_p.H43Y|SNX24_ENST00000513881.1_Missense_Mutation_p.H43Y	NM_014035.2	NP_054754.1	Q9Y343	SNX24_HUMAN	sorting nexin 24	43	PX.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding			lung(5)	5		Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139)		CAGCGAATTTCATGCTTTGCA	0.303000													29	46					0	0	1	0	0
LINC00202-2	731789	broad.mit.edu	37	10	26939635	26939635	+	RNA	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr10:26939635G>A	ENST00000544033.1	+	0	5568					NR_026794.1																						CGTCCCCcaggagaattgctt	0.522000													10	3					0	0	1	0	0
SPATA7	55812	broad.mit.edu	37	14	88895799	88895799	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:88895799C>T	ENST00000556553.1	+	8	1483	c.924C>T	c.(922-924)tcC>tcT	p.S308S	SPATA7_ENST00000356583.5_Silent_p.S308S|SPATA7_ENST00000393545.4_Silent_p.S340S|SPATA7_ENST00000045347.7_Silent_p.S340S			Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	340					response to stimulus|visual perception					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						TTCAGCATTCCTCACCAAGGT	0.358000													19	33					0	0	1	0	0
CCDC36	339834	broad.mit.edu	37	3	49292840	49292840	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:49292840G>A	ENST00000438782.1	+	7	786	c.550G>A	c.(550-552)Gcc>Acc	p.A184T	CCDC36_ENST00000296449.5_Missense_Mutation_p.A184T|CCDC36_ENST00000452691.2_Missense_Mutation_p.A184T			Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	184										endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		GACTATACAGGCCCAGAATGA	0.458000													41	43					0	0	1	0	0
LY9	4063	broad.mit.edu	37	1	160784358	160784358	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:160784358G>A	ENST00000263285.5	+	4	909	c.879G>A	c.(877-879)agG>agA	p.R293R	LY9_ENST00000368041.2_Silent_p.R253R|LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368035.1_5'UTR|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000341032.4_Silent_p.R293R	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	293	Ig-like V-type 2.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GCAAAGAGAGGGAAGAAGCAG	0.542000													42	64					0	0	1	0	0
TP73-AS1	57212	broad.mit.edu	37	1	3659650	3659650	+	RNA	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:3659650G>A	ENST00000452079.1	-	0	1820				TP73-AS1_ENST00000418088.1_RNA|TP73-AS1_ENST00000423764.1_RNA	NR_033711.1																						AAGCCGGAGAGGCCGCCGGGA	0.582000													6	1					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7649675	7649675	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:7649675C>T	ENST00000359156.4	-	5	1035	c.833G>A	c.(832-834)aGa>aAa	p.R278K	CD163_ENST00000396620.3_Missense_Mutation_p.R278K|CD163_ENST00000541972.1_Missense_Mutation_p.R266K|CD163_ENST00000432237.2_Missense_Mutation_p.R278K	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	278	SRCR 3.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CACTTCTAATCTTCCTGAACA	0.488000													49	92					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65269048	65269048	+	RNA	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:65269048C>T	ENST00000534336.1	+	0	3816					NR_002819.2																						ATGTTTTTTTCTAAGATTTTC	0.418000													43	51					0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	25958930	25958930	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr15:25958930G>A	ENST00000356865.6	-	10	2346	c.2235C>T	c.(2233-2235)gtC>gtT	p.V745V		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	745					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TCCTCTTGCGGACGGAATCGA	0.612000													46	16					0	0	1	0	0
VAV1	7409	broad.mit.edu	37	19	6836570	6836570	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:6836570C>T	ENST00000304076.2	+	20	1999	c.1905C>T	c.(1903-1905)aaC>aaT	p.N635N	VAV1_ENST00000602142.1_Silent_p.N635N|VAV1_ENST00000599806.1_Silent_p.N580N|VAV1_ENST00000596764.1_Silent_p.N603N|VAV1_ENST00000539284.1_Silent_p.N538N	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	635	SH3 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CTGAACAGAACTGGTGGGAGG	0.562000													19	27					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94160746	94160746	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:94160746C>T	ENST00000553484.1	+	49	7873	c.7719C>T	c.(7717-7719)acC>acT	p.T2573T	UNC79_ENST00000555664.1_Silent_p.T2512T|UNC79_ENST00000393151.2_Silent_p.T2551T|UNC79_ENST00000256339.4_Silent_p.T2374T			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2551						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GCAATTCGACCATTTTTGTCA	0.333000													24	28					0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119739040	119739040	+	Missense_Mutation	SNP	T	T	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr9:119739040T>A	ENST00000313400.4	-	8	1716	c.1616A>T	c.(1615-1617)tAt>tTt	p.Y539F	ASTN2_ENST00000361209.2_Missense_Mutation_p.Y488F|ASTN2_ENST00000373996.3_Missense_Mutation_p.Y539F|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	539	EGF-like 1.					integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GTCAGGGGCATAGCCTTCATG	0.493000													11	35					0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	95001394	95001394	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr15:95001394G>A	ENST00000357742.4	+	19	2279	c.2279G>A	c.(2278-2280)aGa>aAa	p.R760K	MCTP2_ENST00000451018.3_Missense_Mutation_p.R705K	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	760					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TTGATTGAAAGAATCTATATG	0.299000													29	45					0	0	1	0	0
PDE8B	8622	broad.mit.edu	37	5	76621384	76621384	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:76621384G>A	ENST00000264917.5	+	3	465	c.420G>A	c.(418-420)aaG>aaA	p.K140K	PDE8B_ENST00000340978.3_Silent_p.K140K|PDE8B_ENST00000342343.4_Silent_p.K120K|PDE8B_ENST00000333194.4_Silent_p.K140K|PDE8B_ENST00000346042.3_Silent_p.K140K	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	140					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		TCTTTGCAAAGGAAGATAGTC	0.453000													71	99					0	0	1	0	0
CACNG5	27091	broad.mit.edu	37	17	64881025	64881025	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:64881025C>T	ENST00000169565.3	+	4	817	c.817C>T	c.(817-819)Ctg>Ttg	p.L273L	CACNG5_ENST00000533854.1_Intron|CACNG5_ENST00000307139.3_Intron			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	0				SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089).	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			GAGCTGTGTCCTGTGCAGACC	0.622000													34	67					0	0	1	0	0
EHBP1L1	254102	broad.mit.edu	37	11	65343827	65343827	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:65343827C>T	ENST00000309295.4	+	1	319	c.54C>T	c.(52-54)ttC>ttT	p.F18F		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	18										central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						CGGCCAAGTTCCAGTTCGTGG	0.682000													3	7					0	0	1	0	0
VIPAS39	63894	broad.mit.edu	37	14	77920439	77920439	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:77920439G>A	ENST00000553888.1	-	2	517	c.7C>T	c.(7-9)Cgg>Tgg	p.R3W	VIPAS39_ENST00000557658.1_Missense_Mutation_p.R3W|VIPAS39_ENST00000343765.2_Missense_Mutation_p.R3W|VIPAS39_ENST00000327028.4_Missense_Mutation_p.R3W|VIPAS39_ENST00000556412.1_Missense_Mutation_p.R29W|VIPAS39_ENST00000448935.2_Missense_Mutation_p.R3W	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2			VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog																		CCCTTTGTCCGATTCATCTAC	0.453000													17	35					0	0	1	0	0
ATP2B3	492	broad.mit.edu	37	X	152818550	152818550	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chrX:152818550G>A	ENST00000370186.1	+	11	2165	c.1839G>A	c.(1837-1839)cgG>cgA	p.R613R	ATP2B3_ENST00000370181.2_Silent_p.R613R|ATP2B3_ENST00000393842.1_Silent_p.R613R|ATP2B3_ENST00000349466.2_Silent_p.R627R|ATP2B3_ENST00000359149.3_Silent_p.R627R|ATP2B3_ENST00000263519.4_Silent_p.R627R			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	627					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTCGGGACCGGGACGACATGG	0.627000													33	14					0	0	1	0	0
KIAA0368	23392	broad.mit.edu	37	9	114134036	114134036	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr9:114134036G>A	ENST00000259335.4	-	44	5135	c.5136C>T	c.(5134-5136)tcC>tcT	p.S1712S	KIAA0368_ENST00000338205.5_Silent_p.S1534S|KIAA0368_ENST00000374378.3_5'UTR	NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						TCATTTTCCAGGACTGAGACT	0.428000													66	27					0	0	1	0	0
ATP6C	0	broad.mit.edu	37	16	2577838	2577838	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr16:2577838C>T	ENST00000569317.1	+	4	478	c.339C>T	c.(337-339)ctC>ctT	p.113_113insL	AMDHD2_ENST00000302956.4_Silent_p.L160L|AMDHD2_ENST00000293971.6_Silent_p.L160L|AMDHD2_ENST00000413459.3_Silent_p.L160L|CEMP1_ENST00000382350.1_Intron|AMDHD2_ENST00000565570.1_Intron																							AGGCCCACCTCCGCTCCTTCG	0.697000													18	8					0	0	1	0	0
TEKT3	64518	broad.mit.edu	37	17	15234840	15234840	+	Missense_Mutation	SNP	G	G	C			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:15234840G>C	ENST00000395930.1	-	3	249	c.63C>G	c.(61-63)aaC>aaG	p.N21K	TEKT3_ENST00000338696.2_Missense_Mutation_p.N21K	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	21					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		CTGGTAGAAAGTTGGTTGGTG	0.478000													19	55					0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72152312	72152312	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:72152312G>A	ENST00000555818.1	+	10	3686	c.3338G>A	c.(3337-3339)cGa>cAa	p.R1113Q	SIPA1L1_ENST00000537413.1_Missense_Mutation_p.R588Q|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.R1113Q|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.R1113Q	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1113					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		AACATCCCTCGAAGCATCTCC	0.557000													23	29					0	0	1	0	0
KLHL10	317719	broad.mit.edu	37	17	40004308	40004308	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:40004308G>A	ENST00000293303.4	+	5	1729	c.1576G>A	c.(1576-1578)Gat>Aat	p.D526N		NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	526						cytoplasm				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				CGAGGTGGTGGATGACCTCTT	0.473000													45	72					0	0	1	0	0
SMEK2	57223	broad.mit.edu	37	2	55785911	55785911	+	Splice_Site	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:55785911C>T	ENST00000272313.5	-	14	2526	c.2199_splice	c.e14+1	p.K733_splice	SMEK2_ENST00000407823.3_Splice_Site_p.K786_splice|SMEK2_ENST00000345102.5_Splice_Site_p.K818_splice	NM_020463.2	NP_065196.1	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	818						microtubule organizing center|nucleus	protein binding			kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TTTCACCTACCTTGGTGGCTG	0.378000													79	139					0	0	1	0	0
PTGIR	5739	broad.mit.edu	37	19	47124837	47124837	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:47124837C>T	ENST00000291294.2	-	3	994	c.861G>A	c.(859-861)ctG>ctA	p.L287L	PTGIR_ENST00000597185.1_Silent_p.L16L|PTGIR_ENST00000594275.1_Silent_p.L44L|PTGIR_ENST00000598865.1_Silent_p.L75L	NM_000960.3	NP_000951.1	P43119	PI2R_HUMAN	prostaglandin I2 (prostacyclin) receptor (IP)	287					cell-cell signaling|G-protein signaling, coupled to cyclic nucleotide second messenger|platelet activation	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Epoprostenol(DB01240)|Iloprost(DB01088)|Misoprostol(DB00929)	CCCAGGGGTCCAGGATGGGGT	0.632000													40	63					0	0	1	0	0
AFF4	27125	broad.mit.edu	37	5	132233971	132233971	+	Missense_Mutation	SNP	C	C	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:132233971C>A	ENST00000265343.5	-	10	1719	c.1340G>T	c.(1339-1341)aGt>aTt	p.S447I	AFF4_ENST00000378595.3_Missense_Mutation_p.S447I	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	447	Ser-rich.				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTCACTGGAACTACTTTCACT	0.527000													11	92					0.0135373	0.0135969	1	1	0
CCDC60	160777	broad.mit.edu	37	12	119961555	119961555	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:119961555G>A	ENST00000327554.2	+	11	1626	c.1161G>A	c.(1159-1161)agG>agA	p.R387R	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	387								p.R387S(1)		endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		ACACCATGAGGGCCAAGTTTT	0.498000													21	12					0	0	1	0	0
SNUPN	10073	broad.mit.edu	37	15	75902231	75902231	+	Splice_Site	SNP	C	C	G			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr15:75902231C>G	ENST00000371091.5	-	5	986	c.534_splice	c.e5+1	p.R178_splice	SNUPN_ENST00000564644.1_Splice_Site_p.R136_splice|SNUPN_ENST00000564675.1_Splice_Site_p.R136_splice|SNUPN_ENST00000308588.5_Splice_Site_p.R136_splice|SNUPN_ENST00000567134.1_Splice_Site_p.R136_splice			O95149	SPN1_HUMAN	snurportin 1	136					ncRNA metabolic process|protein import into nucleus|spliceosomal snRNP assembly	cytosol|nuclear pore	protein transporter activity|RNA cap binding			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)	8						AGCTACTCACCCTGGAGGCCA	0.532000													7	21					0	0	1	0	0
MAMLD1	10046	broad.mit.edu	37	X	149639731	149639731	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chrX:149639731C>T	ENST00000370401.2	+	4	2196	c.1886C>T	c.(1885-1887)gCc>gTc	p.A629V	MAMLD1_ENST00000262858.5_Missense_Mutation_p.A629V|MAMLD1_ENST00000426613.2_Missense_Mutation_p.A604V|MAMLD1_ENST00000432680.2_Missense_Mutation_p.A604V|MAMLD1_ENST00000455522.2_Missense_Mutation_p.A110V			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	629					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CGATCAGTGGCCTCAGATTCC	0.498000													53	26					0	0	1	0	0
KRT26	353288	broad.mit.edu	37	17	38925239	38925239	+	Missense_Mutation	SNP	C	C	T	rs138784431		TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:38925239C>T	ENST00000335552.4	-	6	1127	c.1079G>A	c.(1078-1080)cGa>cAa	p.R360Q		NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN	keratin 26	360	Coil 2.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				TGTTTCTGTTCGAATCTGTTG	0.383000													30	32					0	0	1	0	0
AHSG	197	broad.mit.edu	37	3	186330938	186330938	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:186330938C>T	ENST00000411641.2	+	1	227	c.8C>T	c.(7-9)tCc>tTc	p.S3F	AHSG_ENST00000273784.5_Missense_Mutation_p.S3F			P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	3					acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		GCCATGAAGTCCCTCGTCCTG	0.607000													9	28					0	0	1	0	0
MED6	10001	broad.mit.edu	37	14	71059684	71059684	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:71059684G>A	ENST00000256379.5	-	5	408	c.379C>T	c.(379-381)Cag>Tag	p.Q127*	MED6_ENST00000430055.2_Nonsense_Mutation_p.Q134*|MED6_ENST00000554963.1_Nonsense_Mutation_p.Q127*|MED6_ENST00000440435.2_Nonsense_Mutation_p.Q127*|MED6_ENST00000556044.1_5'UTR	NM_005466.2	NP_005457.2	O75586	MED6_HUMAN	mediator complex subunit 6	127					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	transcription coactivator activity			large_intestine(2)|lung(2)|skin(1)	5				all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352)		AAAGCTGACTGAATACCATGC	0.353000													52	67					0	0	1	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140745857	140745857	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:140745857C>T	ENST00000518069.1	+	1	1960	c.1960C>T	c.(1960-1962)Ctg>Ttg	p.L654L	PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGCCCCCTCTGTCAGCCAC	0.647000													209	193					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41010175	41010175	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:41010175C>T	ENST00000399564.4	-	31	3592	c.3142G>A	c.(3142-3144)Gag>Aag	p.E1048K	MROH2B_ENST00000506092.2_Missense_Mutation_p.E603K	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		CCTAAGATCTCCAATAGCTAA	0.418000													18	56					0	0	1	0	0
RAB3A	5864	broad.mit.edu	37	19	18313451	18313451	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:18313451C>T	ENST00000222256.4	-	2	278	c.100G>A	c.(100-102)Ggc>Agc	p.G34S	RAB3A_ENST00000464076.2_Intron	NM_002866.4	NP_002857.1	P20336	RAB3A_HUMAN	RAB3A, member RAS oncogene family	34					glutamate secretion|protein transport|small GTPase mediated signal transduction	clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|plasma membrane|synaptic vesicle	GTP binding|GTPase activity			NS(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	8						GACGTCTTGCCCACGCTGCTG	0.552000											OREG0025360	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	74	167					0	0	1	0	0
SOCS3	9021	broad.mit.edu	37	17	76354748	76354748	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:76354748G>A	ENST00000330871.2	-	2	844	c.429C>T	c.(427-429)ccC>ccT	p.P143P		NM_003955.3	NP_003946.3	O14543	SOCS3_HUMAN	suppressor of cytokine signaling 3	143					anti-apoptosis|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|regulation of growth|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol	protein kinase inhibitor activity			kidney(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(99;0.000688)|OV - Ovarian serous cystadenocarcinoma(97;0.0554)			CCTCGGAGGAGGGTTCAGTAG	0.677000													22	47					0	0	1	0	0
ZNF557	79230	broad.mit.edu	37	19	7081464	7081464	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:7081464C>T	ENST00000414706.1	+	6	814	c.341C>T	c.(340-342)cCa>cTa	p.P114L	ZNF557_ENST00000252840.6_Missense_Mutation_p.P114L|ZNF557_ENST00000439035.2_Missense_Mutation_p.P107L	NM_001044387.1|NM_001044388.1|NM_024341.2	NP_001037852.1|NP_001037853.1|NP_077317.2	Q8N988	ZN557_HUMAN	zinc finger protein 557	107					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		GGTACCTGTCCAGGTGAGCAC	0.458000													11	17					0	0	1	0	0
PRUNE	58497	broad.mit.edu	37	1	150998120	150998120	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:150998120C>T	ENST00000271620.3	+	5	806	c.650C>T	c.(649-651)tCc>tTc	p.S217F	PRUNE_ENST00000271619.8_Missense_Mutation_p.S58F|PRUNE_ENST00000368937.1_Missense_Mutation_p.S35F|PRUNE_ENST00000368934.1_Missense_Mutation_p.S35F|PRUNE_ENST00000467771.1_3'UTR|PRUNE_ENST00000368936.1_Missense_Mutation_p.S35F|PRUNE_ENST00000368935.1_Intron	NM_021222.1	NP_067045.1	Q86TP1	PRUNE_HUMAN	prune exopolyphosphatase	217						cytoplasm|focal adhesion|nucleus	inorganic diphosphatase activity|manganese ion binding|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			ATATTTGATTCCCTACAAAAG	0.393000													62	104					0	0	1	0	0
GAL3ST2	64090	broad.mit.edu	37	2	242741286	242741286	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:242741286C>T	ENST00000192314.6	+	3	341	c.210C>T	c.(208-210)atC>atT	p.I70I	AC114730.5_ENST00000437438.1_RNA	NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	70					biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		TGCTCAACATCCTCTACCGCT	0.672000													41	19					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147844692	147844692	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:147844692G>A	ENST00000361727.3	+	17	3180	c.2664G>A	c.(2662-2664)gaG>gaA	p.E888E	CNTNAP2_ENST00000538075.1_5'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	888	Laminin G-like 3.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TCACTGCAGAGAGGAATGTCA	0.572000										HNSCC(39;0.1)			52	77					0	0	1	0	0
LINC00207	388910	broad.mit.edu	37	22	44965319	44965319	+	RNA	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr22:44965319G>A	ENST00000605505.1	+	0	88					NR_028409.1															lung(3)	3						gtgtgacatgggagtaagttt	0.443000													30	54					0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20799775	20799775	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:20799775G>A	ENST00000359062.3	+	12	2496	c.2456G>A	c.(2455-2457)gGg>gAg	p.G819E	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	819	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	TGTCTGTCTGGGAATATCCCT	0.433000													66	107					0	0	1	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100649297	100649297	+	Missense_Mutation	SNP	G	G	A	rs142108260		TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr15:100649297G>A	ENST00000268070.4	-	14	2018	c.1913C>T	c.(1912-1914)tCg>tTg	p.S638L		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	638	Cys-rich.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CCCGAGGGGCGAGCAGTAGAG	0.627000													27	9					0	0	1	0	0
FAM179A	165186	broad.mit.edu	37	2	29256359	29256359	+	Missense_Mutation	SNP	C	C	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:29256359C>A	ENST00000379558.4	+	16	2506	c.2155C>A	c.(2155-2157)Ccc>Acc	p.P719T	FAM179A_ENST00000465300.1_3'UTR|FAM179A_ENST00000403861.2_Missense_Mutation_p.P664T	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	719							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						TGATGAACTTCCCTCTGCCAA	0.517000													6	19					0.00307968	0.00309596	1	1	0
ANXA10	11199	broad.mit.edu	37	4	169060656	169060656	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr4:169060656G>A	ENST00000359299.3	+	3	306	c.120G>A	c.(118-120)ctG>ctA	p.L40L		NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN	annexin A10	40							calcium ion binding|calcium-dependent phospholipid binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		AAGACATGCTGATCAACATTC	0.403000													14	38					0	0	1	0	0
PCDHA2	56146	broad.mit.edu	37	5	140175795	140175795	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:140175795G>A	ENST00000526136.1	+	1	1246	c.1246G>A	c.(1246-1248)Gag>Aag	p.E416K	PCDHA2_ENST00000520672.2_Missense_Mutation_p.E416K|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.E416K	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGGACCGCGAGAGCGTGTC	0.627000													88	200					0	0	1	0	0
HEATR1	55127	broad.mit.edu	37	1	236716961	236716961	+	Missense_Mutation	SNP	A	A	C			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:236716961A>C	ENST00000366582.3	-	43	6271	c.6157T>G	c.(6157-6159)Tcg>Gcg	p.S2053A	HEATR1_ENST00000366581.2_Missense_Mutation_p.S1972A	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	2053					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			ATGGCCACCGAAAACTGTGCG	0.498000													32	58					0	0	1	0	0
TAF1	6872	broad.mit.edu	37	X	70601712	70601712	+	Missense_Mutation	SNP	C	C	T	rs139965533	byFrequency	TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chrX:70601712C>T	ENST00000449580.1	+	9	1528	c.1477C>T	c.(1477-1479)Cgg>Tgg	p.R493W	TAF1_ENST00000276072.3_Missense_Mutation_p.R514W|TAF1_ENST00000373790.4_Missense_Mutation_p.R493W|TAF1_ENST00000423759.1_Missense_Mutation_p.R514W			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	493					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GGCCATGCCCCGGCTGTTGGA	0.458000													40	17					0	0	1	0	0
IGHV5-51	28388	broad.mit.edu	37	14	107034877	107034877	+	RNA	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:107034877C>T	ENST00000390626.2	-	0	261																											ATAGATGATCCCCATCCACTC	0.567000													23	34					0	0	1	0	0
SFPQ	6421	broad.mit.edu	37	1	35656577	35656577	+	Missense_Mutation	SNP	T	T	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:35656577T>A	ENST00000357214.5	-	3	1135	c.1037A>T	c.(1036-1038)gAa>gTa	p.E346V		NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN	splicing factor proline/glutamine-rich	346	RRM 1.				alternative nuclear mRNA splicing, via spliceosome|DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|nucleotide binding|protein binding|RNA binding		SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				TTTGGCAATTTCAGCCAAAGC	0.438000			T	TFE3	papillary renal cell								16	5					0	0	1	0	0
MST1	4485	broad.mit.edu	37	3	49723382	49723382	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:49723382G>A	ENST00000449682.2	-	10	1522	c.1161C>T	c.(1159-1161)ggC>ggT	p.G387G	MST1_ENST00000383728.3_3'UTR	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	373	Kringle 4.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCTCCCCTGCGCCGTGGTAGC	0.706000													5	14					0	0	1	0	0
NPY2R	4887	broad.mit.edu	37	4	156135660	156135660	+	Missense_Mutation	SNP	C	C	T	rs151197683	by1000genomes	TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr4:156135660C>T	ENST00000329476.3	+	2	1058	c.569C>T	c.(568-570)tCg>tTg	p.S190L	NPY2R_ENST00000506608.1_Missense_Mutation_p.S190L	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	190					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				CGGGAGTATTCGCTGATTGAG	0.527000													47	37					0	0	1	0	0
COL18A1	80781	broad.mit.edu	37	21	46901894	46901894	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr21:46901894G>A	ENST00000359759.4	+	13	2895	c.2874G>A	c.(2872-2874)ccG>ccA	p.P958P	COL18A1_ENST00000355480.5_Silent_p.P723P|COL18A1_ENST00000400337.2_Silent_p.P543P			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	958	Triple-helical region 3 (COL3).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CAGGCCCTCCGGGAAGAGAGG	0.602000													27	25					0	0	1	0	0
TRIM46	80128	broad.mit.edu	37	1	155148665	155148665	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:155148665C>T	ENST00000392451.2	+	3	710	c.627C>T	c.(625-627)gcC>gcT	p.A209A	TRIM46_ENST00000543729.1_Silent_p.A216A|TRIM46_ENST00000368382.1_Silent_p.A186A|TRIM46_ENST00000334634.4_Silent_p.A209A|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000545012.1_Silent_p.A83A|TRIM46_ENST00000368383.3_Silent_p.A209A|TRIM46_ENST00000368385.4_Silent_p.A209A			Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	209						intracellular	zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCCAGAAGGCCCAGCATGAGC	0.657000													37	58					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73377105	73377105	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr10:73377105C>T	ENST00000224721.6	+	10	1109	c.1104C>T	c.(1102-1104)gtC>gtT	p.V368V	CDH23_ENST00000461841.3_Silent_p.V408V|CDH23_ENST00000398809.4_Silent_p.V363V|CDH23_ENST00000299366.7_Silent_p.V408V|CDH23_ENST00000398842.3_Silent_p.V363V	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	363	Cadherin 4.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TGGCACAGGTCGGCTTTGCCC	0.562000													25	31					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195475813	195475813	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:195475813C>T	ENST00000463781.3	-	24	16453	c.15994G>A	c.(15994-15996)Gga>Aga	p.G5332R	MUC4_ENST00000349607.4_Missense_Mutation_p.G1045R|MUC4_ENST00000475231.1_Missense_Mutation_p.G5280R|MUC4_ENST00000346145.4_Missense_Mutation_p.G1096R	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	2089					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CACTGGCCTCCATGGTCACAG	0.637000													14	53					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152325355	152325355	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:152325355C>T	ENST00000388718.5	-	3	4979	c.4907G>A	c.(4906-4908)gGa>gAa	p.G1636E	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1636							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTGGACTGTCCATGACCAGA	0.502000													171	244					0	0	1	0	0
LGALS13	29124	broad.mit.edu	37	19	40093217	40093217	+	Silent	SNP	T	T	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:40093217T>A	ENST00000221797.4	+	1	54	c.9T>A	c.(7-9)tcT>tcA	p.S3S		NM_013268.2	NP_037400.1	Q9UHV8	PP13_HUMAN	lectin, galactoside-binding, soluble, 13	3					lipid catabolic process|phospholipid metabolic process		carboxylesterase activity|lysophospholipase activity|sugar binding			lung(5)|ovary(1)|urinary_tract(1)	7	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			CAATGTCTTCTTTACCCGTGA	0.403000													37	53					0	0	1	0	0
AE000661.37	0	broad.mit.edu	37	14	22951289	22951289	+	RNA	SNP	C	C	G			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:22951289C>G	ENST00000514473.2	-	0	107				TRAJ54_ENST00000390484.1_RNA																							TTCAGGGAGCCCAGAAGCTGG	0.512000													16	25					0	0	1	0	0
FAM208B	54906	broad.mit.edu	37	10	5777438	5777438	+	Missense_Mutation	SNP	C	C	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr10:5777438C>A	ENST00000328090.5	+	12	2001	c.1376C>A	c.(1375-1377)tCt>tAt	p.S459Y	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	459																	GTGAAGAAATCTCCACAAAAA	0.383000													68	109					1.35869e-18	1.39663e-18	1	1	0
P2RX3	5024	broad.mit.edu	37	11	57118326	57118326	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:57118326G>A	ENST00000263314.2	+	8	830	c.796G>A	c.(796-798)Gac>Aac	p.D266N		NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	266					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity	p.D266N(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						CACCCGGCTCGACAGCGTTTC	0.567000													32	38					0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59221779	59221779	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr18:59221779G>A	ENST00000262717.4	+	12	2655	c.2257G>A	c.(2257-2259)Gac>Aac	p.D753N	CDH20_ENST00000536675.2_Missense_Mutation_p.D753N|CDH20_ENST00000538374.1_Missense_Mutation_p.D753N			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	753					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)				GTTCGAGGGGGACGGCTCTGT	0.652000													7	5					0	0	1	0	0
SYT2	127833	broad.mit.edu	37	1	202568427	202568427	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:202568427C>T	ENST00000367267.1	-	8	1164	c.972G>A	c.(970-972)aaG>aaA	p.K324K	SYT2_ENST00000367268.4_Silent_p.K324K	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	324	C2 2.|Phospholipid binding (By similarity).				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	CGGTTGTCTTCTTCTTCTTGA	0.547000													56	136					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24835206	24835206	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr10:24835206G>A	ENST00000376454.3	+	21	5815	c.5785G>A	c.(5785-5787)Gga>Aga	p.G1929R	KIAA1217_ENST00000396445.1_3'UTR|KIAA1217_ENST00000376451.2_3'UTR|KIAA1217_ENST00000458595.1_Missense_Mutation_p.G1335R|KIAA1217_ENST00000376452.3_Missense_Mutation_p.G1360R|KIAA1217_ENST00000376462.1_Missense_Mutation_p.G1250R	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1929					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GGCACAGAATGGAAGTTCAAG	0.483000													40	40					0	0	1	0	0
CD22	933	broad.mit.edu	37	19	35832695	35832695	+	Missense_Mutation	SNP	A	A	G			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:35832695A>G	ENST00000085219.5	+	9	1928	c.1862A>G	c.(1861-1863)aAc>aGc	p.N621S	CD22_ENST00000536635.2_Missense_Mutation_p.N533S|CD22_ENST00000341773.6_Missense_Mutation_p.N444S|CD22_ENST00000544992.2_Missense_Mutation_p.N621S|CD22_ENST00000419549.2_Missense_Mutation_p.N449S|CD22_ENST00000594250.1_Missense_Mutation_p.N444S|CD22_ENST00000270311.6_Missense_Mutation_p.N501S	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	621	Ig-like C2-type 6.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	AGCGACGCCAACCCTCCCGTC	0.607000													22	53					0	0	1	0	0
KRT74	121391	broad.mit.edu	37	12	52967407	52967407	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:52967407C>T	ENST00000549343.1	-	1	193	c.155G>A	c.(154-156)aGc>aAc	p.S52N	KRT74_ENST00000305620.2_Missense_Mutation_p.S52N			Q7RTS7	K2C74_HUMAN	keratin 74	52	Gly-rich.|Head.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		CCCTCCAAGGCTATAGAGGCT	0.622000													38	42					0	0	1	0	0
SNUPN	10073	broad.mit.edu	37	15	75902232	75902232	+	Splice_Site	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr15:75902232C>T	ENST00000371091.5	-	5	985	c.534_splice	c.e5+1	p.R178_splice	SNUPN_ENST00000564644.1_Splice_Site_p.R136_splice|SNUPN_ENST00000564675.1_Splice_Site_p.R136_splice|SNUPN_ENST00000308588.5_Splice_Site_p.R136_splice|SNUPN_ENST00000567134.1_Splice_Site_p.R136_splice			O95149	SPN1_HUMAN	snurportin 1	136					ncRNA metabolic process|protein import into nucleus|spliceosomal snRNP assembly	cytosol|nuclear pore	protein transporter activity|RNA cap binding			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)	8						GCTACTCACCCTGGAGGCCAC	0.532000													8	21					0	0	1	0	0
MOGAT1	116255	broad.mit.edu	37	2	223574553	223574553	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:223574553G>A	ENST00000446656.3	+	6	952	c.952G>A	c.(952-954)Gag>Aag	p.E318K		NM_058165.2	NP_477513.2	Q96PD6	MOGT1_HUMAN	monoacylglycerol O-acyltransferase 1	318					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			breast(1)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1)	9		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)		GAAATTGTTTGAGGAACACAA	0.398000													47	68					0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62021198	62021198	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:62021198C>T	ENST00000435607.1	-	22	4001	c.3925G>A	c.(3925-3927)Gac>Aac	p.D1309N	SCN4A_ENST00000578147.1_Missense_Mutation_p.D1309N	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1309					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	ATAAAGATGTCTTTCCCCCCT	0.542000													10	29					0	0	1	0	0
DCLK3	85443	broad.mit.edu	37	3	36780084	36780084	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:36780084C>T	ENST00000416516.2	-	2	557	c.67G>A	c.(67-69)Gcc>Acc	p.A23T		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	23						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						AGGGCCCGGGCTTTGTTGGGG	0.557000													53	122					0	0	1	0	0
SPI1	6688	broad.mit.edu	37	11	47381520	47381520	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:47381520C>T	ENST00000378538.3	-	3	436	c.214G>A	c.(214-216)Gag>Aag	p.E72K	SPI1_ENST00000227163.4_Missense_Mutation_p.E73K|SPI1_ENST00000533968.1_Missense_Mutation_p.E72K|SPI1_ENST00000533030.1_Intron	NM_001080547.1|NM_003120.2	NP_001074016.1|NP_003111.2	P17947	SPI1_HUMAN	spleen focus forming virus (SFFV) proviral integration oncogene	72					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation	nucleus	protein binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1)	8				Lung(87;0.0967)		CTCTGGAGCTCCGTGAAGTTG	0.632000													21	22					0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69692148	69692148	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr4:69692148G>A	ENST00000265403.7	+	4	1047	c.1020G>A	c.(1018-1020)ggG>ggA	p.G340G	UGT2B10_ENST00000458688.2_Silent_p.G256G	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	340					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.G340G(2)		endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						GATTTGATGGGAATAAACCAG	0.363000													24	47					0	0	1	0	0
LMCD1	29995	broad.mit.edu	37	3	8590329	8590329	+	Missense_Mutation	SNP	C	C	T	rs145385804	by1000genomes	TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:8590329C>T	ENST00000157600.3	+	4	695	c.463C>T	c.(463-465)Cgc>Tgc	p.R155C	LMCD1-AS1_ENST00000439407.1_RNA|LMCD1_ENST00000535732.1_Missense_Mutation_p.R155C|LMCD1_ENST00000397386.3_Missense_Mutation_p.R43C|LMCD1_ENST00000454244.1_Missense_Mutation_p.R82C	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	155	PET.				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		TTACCGCCGCCGCCAGCTCAT	0.562000													54	128					0	0	1	0	0
DDX60L	91351	broad.mit.edu	37	4	169351662	169351662	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr4:169351662C>T	ENST00000511577.1	-	13	1891	c.1644G>A	c.(1642-1644)gaG>gaA	p.E548E	DDX60L_ENST00000505890.1_Silent_p.E548E|DDX60L_ENST00000260184.7_Silent_p.E548E			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	548							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CACTGGAATCCTCCTTTGGCC	0.348000													8	24					0	0	1	0	0
ELF5	2001	broad.mit.edu	37	11	34502425	34502425	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:34502425C>T	ENST00000312319.2	-	6	824	c.595G>A	c.(595-597)Gaa>Aaa	p.E199K	ELF5_ENST00000257832.2_Missense_Mutation_p.E189K|ELF5_ENST00000429939.2_Missense_Mutation_p.E94K	NM_001243081.1|NM_198381.1	NP_001230010.1|NP_938195.1	Q9UKW6	ELF5_HUMAN	E74-like factor 5 (ets domain transcription factor)	199					cell proliferation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(4)|skin(1)	5		Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384)				ATTCCTTGTTCCCTATCTTCC	0.428000													54	86					0	0	1	0	0
ZNF728	388523	broad.mit.edu	37	19	23159421	23159421	+	Missense_Mutation	SNP	A	A	G			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:23159421A>G	ENST00000594710.1	-	4	863	c.718T>C	c.(718-720)Ttc>Ctc	p.F240L		NM_001267716.1	NP_001254645.1			zinc finger protein 728																		AGGATTGAGAACTTACTAAAG	0.408000													20	28					0	0	1	0	0
AHSG	197	broad.mit.edu	37	3	186330939	186330939	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:186330939C>T	ENST00000411641.2	+	1	228	c.9C>T	c.(7-9)tcC>tcT	p.S3S	AHSG_ENST00000273784.5_Silent_p.S3S			P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	3					acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		CCATGAAGTCCCTCGTCCTGC	0.602000													9	27					0	0	1	0	0
MYBBP1A	10514	broad.mit.edu	37	17	4443223	4443223	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:4443223G>A	ENST00000254718.4	-	26	3780	c.3474C>T	c.(3472-3474)ccC>ccT	p.P1158P	MYBBP1A_ENST00000381556.2_Silent_p.P1158P			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	1158	Required for nuclear and nucleolar localization (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						GGGTGGCACTGGGGATCTCCT	0.582000													77	133					0	0	1	0	0
CEP68	23177	broad.mit.edu	37	2	65299917	65299917	+	Missense_Mutation	SNP	G	G	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:65299917G>T	ENST00000377990.2	+	3	1890	c.1687G>T	c.(1687-1689)Gtc>Ttc	p.V563F	RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000546106.1_Missense_Mutation_p.V563F|CEP68_ENST00000537589.1_Missense_Mutation_p.V175F|CEP68_ENST00000497039.1_Intron|CEP68_ENST00000260569.4_Intron	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	563					centrosome organization	centrosome		p.V563I(1)		breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						GCGCTCCTTCGTCCGTGCCCA	0.642000													80	88					9.61239e-26	9.89868e-26	1	1	0
TROAP	10024	broad.mit.edu	37	12	49717510	49717510	+	Missense_Mutation	SNP	T	T	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:49717510T>A	ENST00000551245.1	+	2	230	c.119T>A	c.(118-120)gTg>gAg	p.V40E	TROAP_ENST00000548311.1_Missense_Mutation_p.V40E|RP11-161H23.9_ENST00000553259.1_RNA|TROAP_ENST00000550709.1_Missense_Mutation_p.V40E|TROAP_ENST00000257909.3_Missense_Mutation_p.V40E|TROAP_ENST00000549534.1_Missense_Mutation_p.V40E|TROAP_ENST00000549275.1_Missense_Mutation_p.V40E|TROAP_ENST00000380327.5_Missense_Mutation_p.V40E			Q12815	TROAP_HUMAN	trophinin associated protein	40					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						TCGTGCGCCGTGGACCAGGAG	0.547000													64	144					0	0	1	0	0
SERPINB10	5273	broad.mit.edu	37	18	61597289	61597289	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr18:61597289G>A	ENST00000238508.3	+	6	560	c.501G>A	c.(499-501)caG>caA	p.Q167Q		NM_005024.1	NP_005015.1			serpin peptidase inhibitor, clade B (ovalbumin), member 10											breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				GTAAAATCCAGAATCTCCTGC	0.378000													22	9					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60889663	60889663	+	Missense_Mutation	SNP	T	T	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr20:60889663T>A	ENST00000252999.3	-	61	8381	c.8315A>T	c.(8314-8316)gAg>gTg	p.E2772V		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2772	Laminin G-like 1.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGCCCAGGCTCAGGCTCTGG	0.647000													38	69					0	0	1	0	0
SERPINA5	5104	broad.mit.edu	37	14	95057149	95057149	+	Silent	SNP	C	C	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:95057149C>A	ENST00000329597.7	+	5	1164	c.954C>A	c.(952-954)ctC>ctA	p.L318L	SERPINA5_ENST00000554276.1_Silent_p.L318L|SERPINA5_ENST00000553780.1_Silent_p.L318L|SERPINA5_ENST00000554866.1_Silent_p.L318L	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	318					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	AGAAAGTCCTCCCCAGTCTGG	0.517000													26	32					3.01185e-09	3.06012e-09	1	1	0
NELFB	25920	broad.mit.edu	37	9	140151503	140151503	+	Silent	SNP	C	C	T	rs144287982		TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr9:140151503C>T	ENST00000343053.4	+	4	931	c.594C>T	c.(592-594)ggC>ggT	p.G198G		NM_015456.3	NP_056271.2			negative elongation factor complex member B																		GGCGCCAGGGCGAGGTGAGGG	0.617000													19	27					0	0	1	0	0
USP15	9958	broad.mit.edu	37	12	62784970	62784970	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:62784970C>T	ENST00000280377.5	+	16	2052	c.1994C>T	c.(1993-1995)tCc>tTc	p.S665F	USP15_ENST00000393654.3_Missense_Mutation_p.S640F|USP15_ENST00000353364.3_Missense_Mutation_p.S636F	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	665					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		GATGATGAATCCAGCCAGGAT	0.323000													32	41					0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108487281	108487281	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:108487281C>T	ENST00000408999.3	+	20	2898	c.2821C>T	c.(2821-2823)Ctt>Ttt	p.L941F	RGPD4_ENST00000354986.4_Missense_Mutation_p.L941F	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	941					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TGAAAAGCCTCTTGAAAATGA	0.413000													124	34					0	0	1	0	0
ETV3	2117	broad.mit.edu	37	1	157105388	157105388	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:157105388G>A	ENST00000368192.4	-	3	223	c.159C>T	c.(157-159)gtC>gtT	p.V53V	ETV3_ENST00000326786.4_Silent_p.V53V|ETV3_ENST00000460850.1_5'UTR	NM_001145312.1	NP_001138784.1	P41162	ETV3_HUMAN	ets variant 3	53							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	9	Hepatocellular(266;0.158)	Prostate(1639;0.174)				GCCAGGCGATGACATGGCGGA	0.572000													37	49					0	0	1	0	0
MUM1L1	139221	broad.mit.edu	37	X	105450269	105450269	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chrX:105450269C>T	ENST00000337685.2	+	5	1629	c.844C>T	c.(844-846)Cct>Tct	p.P282S	MUM1L1_ENST00000357175.2_Missense_Mutation_p.P282S|MUM1L1_ENST00000372552.1_Missense_Mutation_p.P282S	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	282										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						TATTGAGGATCCTGGAGAGGG	0.502000													11	7					0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105167132	105167132	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chrX:105167132G>A	ENST00000428173.2	+	18	2939	c.2636G>A	c.(2635-2637)gGa>gAa	p.G879E	NRK_ENST00000243300.9_Missense_Mutation_p.G878E			Q7Z2Y5	NRK_HUMAN	Nik related kinase	878							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TTTAAAGTAGGAAAAATATCA	0.403000										HNSCC(51;0.14)			103	30					0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1582486	1582486	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:1582486G>A	ENST00000572621.1	-	10	1689	c.1424C>T	c.(1423-1425)tCc>tTc	p.S475F	PRPF8_ENST00000304992.6_Missense_Mutation_p.S475F			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	475						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GGCTTTGAAGGAGCGGAACAA	0.532000													46	95					0	0	1	0	0
RPL10L	140801	broad.mit.edu	37	14	47120739	47120739	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:47120739G>A	ENST00000298283.3	-	1	289	c.201C>T	c.(199-201)gcC>gcT	p.A67A		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	67					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						AAATACGGGCGGCCTCCAGGG	0.512000													33	53					0	0	1	0	0
NR5A1	2516	broad.mit.edu	37	9	127255311	127255311	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr9:127255311C>T	ENST00000373588.4	-	5	1184	c.988G>A	c.(988-990)Gag>Aag	p.E330K		NM_004959.4	NP_004950.2	Q13285	STF1_HUMAN	nuclear receptor subfamily 5, group A, member 1	330	Important for dimerization.|Ligand-binding.				cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			lung(1)|upper_aerodigestive_tract(1)	2						CTGGTCACCTCCTGCCCGGTG	0.701000													9	7					0	0	1	0	0
TRIM39	56658	broad.mit.edu	37	6	30309876	30309876	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr6:30309876C>T	ENST00000376659.5	+	8	1905	c.1307C>T	c.(1306-1308)gCc>gTc	p.A436V	TRIM39_ENST00000540416.1_Missense_Mutation_p.A436V|TRIM39_ENST00000396551.3_Missense_Mutation_p.A436V|TRIM39_ENST00000396548.1_Missense_Mutation_p.A436V|TRIM39_ENST00000376656.4_Missense_Mutation_p.A466V|TRIM39_ENST00000396547.1_Missense_Mutation_p.A466V|TRIM39-RPP21_ENST00000513556.1_Intron	NM_172016.2	NP_742013.1			tripartite motif containing 39											ovary(3)	3						GACTATGAGGCCGGCACACTG	0.483000													27	43					0	0	1	0	0
OR9A4	130075	broad.mit.edu	37	7	141619581	141619581	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:141619581G>A	ENST00000548136.1	+	1	965	c.906G>A	c.(904-906)cgG>cgA	p.R302R	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					AGGCCCTTCGGGATGGGGTGA	0.418000													55	59					0	0	1	0	0
NPR2	4882	broad.mit.edu	37	9	35805956	35805956	+	Missense_Mutation	SNP	T	T	C			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr9:35805956T>C	ENST00000342694.2	+	14	2432	c.2177T>C	c.(2176-2178)tTg>tCg	p.L726S		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	726	Protein kinase.				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)	CCTTTCTACTTGGAGGGCCTG	0.532000													40	59					0	0	1	0	0
NPRL3	8131	broad.mit.edu	37	16	148260	148260	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr16:148260G>A	ENST00000399953.3	-	8	1209	c.807C>T	c.(805-807)tcC>tcT	p.S269S	NPRL3_ENST00000399951.3_Silent_p.S90S|NPRL3_ENST00000405960.3_5'UTR	NM_001077350.2|NM_001243247.1|NM_001243248.1|NM_001243249.1	NP_001070818.1|NP_001230176.1|NP_001230177.1|NP_001230178.1	Q12980	NPRL3_HUMAN	nitrogen permease regulator-like 3 (S. cerevisiae)	269							protein binding			endometrium(1)|large_intestine(3)|ovary(2)	6						CACCCAGCAAGGACTTCTCAT	0.567000													23	9					0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121748159	121748159	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:121748159C>T	ENST00000452319.1	+	14	4729	c.4669C>T	c.(4669-4671)Ccc>Tcc	p.P1557S	GLI2_ENST00000314490.11_Intron|GLI2_ENST00000361492.4_Missense_Mutation_p.P1557S			P10070	GLI2_HUMAN	GLI family zinc finger 2	1557					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)				GCCCTCCATCCCCGCAGGCAT	0.622000													91	116					0	0	1	0	0
EXOC4	60412	broad.mit.edu	37	7	133622784	133622784	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:133622784G>A	ENST00000253861.4	+	14	2197	c.2168G>A	c.(2167-2169)cGa>cAa	p.R723Q	EXOC4_ENST00000539845.1_Missense_Mutation_p.R622Q|EXOC4_ENST00000545148.1_Missense_Mutation_p.R333Q|EXOC4_ENST00000541309.1_Missense_Mutation_p.R11Q	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	723					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				TTGGCAAGTCGAACAAAGTCA	0.453000													38	53					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22941741	22941741	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:22941741G>A	ENST00000397104.3	-	5	696	c.697C>T	c.(697-699)Cat>Tat	p.H233Y	ZNF99_ENST00000596209.1_Missense_Mutation_p.H324Y					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GCTGAGAAATGGTTAAAAGCT	0.393000													30	34					0	0	1	0	0
FBXO38	81545	broad.mit.edu	37	5	147821638	147821638	+	Missense_Mutation	SNP	T	T	G			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:147821638T>G	ENST00000340253.5	+	22	3663	c.3495T>G	c.(3493-3495)ttT>ttG	p.F1165L	FBXO38_ENST00000394370.3_Missense_Mutation_p.F1090L|FBXO38_ENST00000513826.1_Missense_Mutation_p.F920L|FBXO38_ENST00000296701.6_Missense_Mutation_p.F920L			Q6PIJ6	FBX38_HUMAN	F-box protein 38	1165						cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGGTGTATTTCAGCGAGTAG	0.418000													64	67					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147092787	147092787	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:147092787C>T	ENST00000361727.3	+	10	2101	c.1585C>T	c.(1585-1587)Caa>Taa	p.Q529*		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	529	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AGTGGACGATCAACTTGTAAA	0.428000										HNSCC(39;0.1)			88	125					0	0	1	0	0
PON2	5445	broad.mit.edu	37	7	95039346	95039346	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:95039346G>A	ENST00000536183.1	-	6	808	c.625C>T	c.(625-627)Cct>Tct	p.P209S	PON2_ENST00000433091.2_Missense_Mutation_p.P176S|PON2_ENST00000222572.3_Missense_Mutation_p.P188S|PON2_ENST00000483292.1_5'UTR	NM_000305.2	NP_000296.2	Q15165	PON2_HUMAN	paraoxonase 2	188					aromatic compound catabolic process	extracellular region|plasma membrane	arylesterase activity|identical protein binding|metal ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		STAD - Stomach adenocarcinoma(171;0.0151)			TTTAAGAAAGGATCAGAGAAG	0.373000													37	54					0	0	1	0	0
IL1A	3552	broad.mit.edu	37	2	113540313	113540313	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:113540313C>T	ENST00000263339.3	-	3	231	c.76G>A	c.(76-78)Gat>Aat	p.D26N		NM_000575.3	NP_000566.3	P01583	IL1A_HUMAN	interleukin 1, alpha	26					anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion	cytosol|extracellular space	copper ion binding|cytokine activity|interleukin-1 receptor binding			breast(2)|large_intestine(1)|lung(9)	12						GACAGATGATCAATGGAGGAA	0.368000													26	46					0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93796821	93796821	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:93796821C>T	ENST00000315765.9	+	3	571	c.563C>T	c.(562-564)tCg>tTg	p.S188L		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	188	Plastocyanin-like 1.				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)				GTGTACCATTCGCACATCGAC	0.542000													57	69					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8190815	8190815	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:8190815C>T	ENST00000600128.1	-	22	3106	c.2692G>A	c.(2692-2694)Gag>Aag	p.E898K	FBN3_ENST00000270509.2_Missense_Mutation_p.E898K|FBN3_ENST00000601739.1_Missense_Mutation_p.E898K			Q75N90	FBN3_HUMAN	fibrillin 3	898	EGF-like 11; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						ATCAGGCCCTCTGGACACTCA	0.622000													44	55					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10352264	10352264	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:10352264C>T	ENST00000255381.2	-	31	4392	c.4282G>A	c.(4282-4284)Gaa>Aaa	p.E1428K	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1428					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCCTCTACTTCATTCTGTAGC	0.453000													29	40					0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56370494	56370494	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:56370494C>T	ENST00000301295.6	+	3	2157	c.1735C>T	c.(1735-1737)Cat>Tat	p.H579Y	NLRP4_ENST00000587891.1_Missense_Mutation_p.H504Y|NLRP4_ENST00000346986.5_Missense_Mutation_p.H579Y	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	579							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AGCTAACTTTCATATTATTGA	0.428000													32	44					0	0	1	0	0
NPTX2	4885	broad.mit.edu	37	7	98254427	98254427	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:98254427C>T	ENST00000265634.3	+	3	1002	c.837C>T	c.(835-837)atC>atT	p.I279I		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	279	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			CCAACGAGATCGTGCTGATCG	0.637000													54	70					0	0	1	0	0
SSBP2	23635	broad.mit.edu	37	5	80770324	80770324	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:80770324G>A	ENST00000320672.4	-	7	700	c.490C>T	c.(490-492)Cga>Tga	p.R164*	SSBP2_ENST00000509053.1_Nonsense_Mutation_p.R134*|SSBP2_ENST00000505980.1_Nonsense_Mutation_p.R144*|SSBP2_ENST00000515395.1_Nonsense_Mutation_p.R134*|SSBP2_ENST00000514493.1_Nonsense_Mutation_p.R134*	NM_001256732.1|NM_001256733.1|NM_012446.3	NP_001243661.1|NP_001243662.1|NP_036578.2	P81877	SSBP2_HUMAN	single-stranded DNA binding protein 2	164	Gly-rich.|Pro-rich.				regulation of transcription, DNA-dependent	cytoplasm|nucleus	single-stranded DNA binding		SSBP2/JAK2(4)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		CCTTGTTGTCGAGTTGGATCC	0.348000													22	31					0	0	1	0	0
BRINP1	1620	broad.mit.edu	37	9	121929878	121929878	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr9:121929878G>A	ENST00000265922.3	-	8	2231	c.1770C>T	c.(1768-1770)atC>atT	p.I590I	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		590					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						TTTGGAGACGGATCTTCTCCC	0.527000													57	98					0	0	1	0	0
P2RY8	286530	broad.mit.edu	37	X	1584508	1584508	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chrX:1584508C>T	ENST00000381297.4	-	2	1154	c.944G>A	c.(943-945)aGa>aAa	p.R315K		NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	315						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CAGGGTGTCTCTGGGCACCCG	0.647000			T	CRLF2	"""B-ALL, Downs associated ALL"""								65	35					0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108388966	108388966	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:108388966G>A	ENST00000265843.4	-	5	737	c.627C>T	c.(625-627)ttC>ttT	p.F209F	EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000443411.1_Silent_p.F21F|EXPH5_ENST00000525344.1_Silent_p.F202F|EXPH5_ENST00000428840.1_Silent_p.F133F	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	209					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		ACTTACCTTGGAAAAACTCAT	0.403000													31	47					0	0	1	0	0
DOCK6	57572	broad.mit.edu	37	19	11319449	11319449	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:11319449G>A	ENST00000294618.7	-	39	5012	c.5001C>T	c.(4999-5001)ccC>ccT	p.P1667P	DOCK6_ENST00000319867.7_Silent_p.P1006P|CTC-510F12.2_ENST00000588634.1_RNA	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1667	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.P1667P(1)		breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CCTCCTCGTCGGGCGACAGGA	0.627000													35	50					0	0	1	0	0
LINGO4	339398	broad.mit.edu	37	1	151775135	151775135	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:151775135G>A	ENST00000368820.3	-	2	983	c.46C>T	c.(46-48)Ccg>Tcg	p.P16S		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	16						integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AAAAGGAGCGGGGGCCATGGG	0.607000													5	8					0	0	1	0	0
RPP25L	138716	broad.mit.edu	37	9	34610832	34610832	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr9:34610832G>A	ENST00000297613.4	-	2	742	c.462C>T	c.(460-462)tcC>tcT	p.S154S	RPP25L_ENST00000378959.4_Silent_p.S154S	NM_148179.2	NP_680545.1	Q8N5L8	CI023_HUMAN	ribonuclease P/MRP 25kDa subunit-like	154							nucleic acid binding										CCCTTCTTCGGGAACGAGGGC	0.627000													65	71					0	0	1	0	0
FBXL14	144699	broad.mit.edu	37	12	1702393	1702393	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:1702393G>A	ENST00000339235.3	-	1	938	c.840C>T	c.(838-840)cgC>cgT	p.R280R	WNT5B_ENST00000537031.1_Intron	NM_152441.2	NP_689654.1	Q8N1E6	FXL14_HUMAN	F-box and leucine-rich repeat protein 14	280						cytoplasm				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	8	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00115)			GCCCCGAGAGGCGCAGGCTGC	0.607000													30	33					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55534729	55534729	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr8:55534729G>A	ENST00000220676.1	+	3	816	c.668G>A	c.(667-669)gGa>gAa	p.G223E		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	223	Doublecortin 2.				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	p.G223V(1)		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)			GTGGCGGCAGGAAGGGAGCCA	0.478000													19	35					0	0	1	0	0
SLC45A1	50651	broad.mit.edu	37	1	8399673	8399673	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:8399673C>T	ENST00000471889.1	+	8	2280	c.1895C>T	c.(1894-1896)tCg>tTg	p.S632L	SLC45A1_ENST00000377479.2_Missense_Mutation_p.S666L|SLC45A1_ENST00000289877.8_Missense_Mutation_p.S632L			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	632					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GTGGTCCTGTCGCTCTGCATA	0.557000													101	40					0	0	1	0	0
MAP3K9	4293	broad.mit.edu	37	14	71227756	71227756	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:71227756G>A	ENST00000554752.2	-	3	963	c.964C>T	c.(964-966)Cgg>Tgg	p.R322W	MAP3K9_ENST00000554146.1_Missense_Mutation_p.R59W|MAP3K9_ENST00000381250.4_Missense_Mutation_p.R322W|MAP3K9_ENST00000553414.1_Missense_Mutation_p.R16W|MAP3K9_ENST00000555993.2_Missense_Mutation_p.R322W			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	322	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		ATGGAGGCCCGGATGACTTCG	0.547000													51	73					0	0	1	0	0
SFSWAP	6433	broad.mit.edu	37	12	132262764	132262764	+	Missense_Mutation	SNP	G	G	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:132262764G>T	ENST00000261674.4	+	14	2438	c.2297G>T	c.(2296-2298)cGa>cTa	p.R766L	SFSWAP_ENST00000541286.1_Missense_Mutation_p.R766L	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot homolog (Drosophila)	766					mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						AAAAGATCTCGAACAAGATCA	0.428000													20	8					3.99206e-14	4.08881e-14	1	1	0
OR5M11	219487	broad.mit.edu	37	11	56310120	56310120	+	Missense_Mutation	SNP	T	T	C			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:56310120T>C	ENST00000528616.2	-	1	637	c.614A>G	c.(613-615)aAc>aGc	p.N205S		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						GCTGGAGAGGTTGAAGCCAGC	0.498000													32	35					0	0	1	0	0
C1QTNF3	114899	broad.mit.edu	37	5	34035785	34035785	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:34035785G>A	ENST00000382065.3	-	2	1088	c.382C>T	c.(382-384)Ccc>Tcc	p.P128S	C1QTNF3_ENST00000231338.7_Missense_Mutation_p.P55S	NM_181435.5	NP_852100.3	Q9BXJ4	C1QT3_HUMAN	C1q and tumor necrosis factor related protein 3	55	C1q.					collagen				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1)	17	all_lung(31;0.0207)					GGCCCAGGGGGGCCTTGGTAG	0.522000													13	69					0	0	1	0	0
MICAL3	57553	broad.mit.edu	37	22	18347737	18347737	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr22:18347737G>A	ENST00000441493.2	-	19	2885	c.2533C>T	c.(2533-2535)Ctg>Ttg	p.L845L	MICAL3_ENST00000585038.1_Silent_p.L969L|MICAL3_ENST00000444520.1_Silent_p.L845L|MICAL3_ENST00000383094.3_Silent_p.L845L|MICAL3_ENST00000429452.1_Silent_p.L969L|MICAL3_ENST00000400561.2_Silent_p.L845L|MICAL3_ENST00000207726.7_Silent_p.L873L|MICAL3_ENST00000414725.2_Silent_p.L873L	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	845						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CCATCCTGCAGGGGTCCTTTG	0.542000													46	74					0	0	1	0	0
DISC1	27185	broad.mit.edu	37	1	231906813	231906813	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:231906813G>A	ENST00000439617.2	+	6	1684	c.1631G>A	c.(1630-1632)aGg>aAg	p.R544K	DISC1_ENST00000535983.1_Missense_Mutation_p.R544K|DISC1_ENST00000366636.4_Missense_Mutation_p.R544K|DISC1_ENST00000539444.1_Missense_Mutation_p.R544K|DISC1_ENST00000602873.1_Missense_Mutation_p.R194K|DISC1_ENST00000602281.1_Missense_Mutation_p.R544K|DISC1_ENST00000537876.1_Missense_Mutation_p.R544K|DISC1_ENST00000366637.3_5'UTR|TRAX_ENST00000602962.1_3'UTR|DISC1_ENST00000366633.3_Missense_Mutation_p.R544K	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	544	Interaction with TRAF3IP1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.|Required for localization to punctate cytoplasmic foci.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				GAAACCATAAGGAGGTACTGC	0.517000													5	10					0	0	1	0	0
PPP1R14D	54866	broad.mit.edu	37	15	41120748	41120748	+	Missense_Mutation	SNP	C	C	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr15:41120748C>A	ENST00000299174.5	-	1	159	c.92G>T	c.(91-93)aGg>aTg	p.R31M	PPP1R14D_ENST00000427255.2_Missense_Mutation_p.R31M	NM_017726.7	NP_060196.1	Q9NXH3	PP14D_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14D	31					regulation of phosphorylation	cytoplasm	protein phosphatase inhibitor activity			breast(1)|large_intestine(2)|lung(2)|skin(1)	6		all_cancers(109;6.29e-14)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.88e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		GGATGATGTCCTTCTCCTCCC	0.577000													36	22					2.47316e-13	2.52856e-13	1	1	0
TTN	7273	broad.mit.edu	37	2	179408030	179408030	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:179408030C>T	ENST00000589042.1	-	347	96894	c.96670G>A	c.(96670-96672)Gaa>Aaa	p.E32224K	TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E30583K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E23351K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E23284K|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E29656K|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E23159K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	30583	Protein kinase.						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)			AGTGGTTTTTCCCAGGCAAGG	0.493000													54	93					0	0	1	0	0
ENTPD3	956	broad.mit.edu	37	3	40464385	40464385	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:40464385G>A	ENST00000301825.3	+	8	994	c.876G>A	c.(874-876)cgG>cgA	p.R292R	ENTPD3-AS1_ENST00000452768.1_RNA|ENTPD3_ENST00000456402.1_Silent_p.R292R|ENTPD3_ENST00000445129.1_Silent_p.R292R|ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3-AS1_ENST00000425156.1_RNA	NM_001248.2	NP_001239.2	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase 3	292						integral to membrane	ATP binding|hydrolase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		GTTACCCTCGGGATTATAGCA	0.438000													25	42					0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79051909	79051909	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr15:79051909C>T	ENST00000388820.4	-	24	5125	c.4915G>A	c.(4915-4917)Gac>Aac	p.D1639N		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1639	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GACAGGCGGTCCCGCTCACAG	0.672000													15	7					0	0	1	0	0
HRASLS5	117245	broad.mit.edu	37	11	63233660	63233660	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:63233660G>A	ENST00000540857.1	-	5	771	c.639C>T	c.(637-639)atC>atT	p.I213I	HRASLS5_ENST00000539221.1_Silent_p.I223I|HRASLS5_ENST00000301790.4_Silent_p.I223I	NM_001146728.1|NM_001146729.1|NM_054108.3	NP_001140200.1|NP_001140201.1|NP_473449.1	Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5	223										endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						TGTACTGCACGATCTTGTTGA	0.517000													37	63					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11038823	11038823	+	RNA	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr21:11038823G>A	ENST00000470054.1	-	0	1380									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTAAGTTGTTGGCATGATGTT	0.458000													49	220					0	0	1	0	0
OR14C36	127066	broad.mit.edu	37	1	248512475	248512475	+	Silent	SNP	C	C	T	rs150366522		TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:248512475C>T	ENST00000317861.1	+	1	399	c.399C>T	c.(397-399)atC>atT	p.I133I		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						ACCCTGTGATCGTGAACTCTC	0.507000													33	28					0	0	1	0	0
OR6X1	390260	broad.mit.edu	37	11	123624625	123624625	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:123624625G>A	ENST00000327930.2	-	1	628	c.602C>T	c.(601-603)aCc>aTc	p.T201I		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CACAAGGATGGTTGCTATGAC	0.453000													66	80					0	0	1	0	0
MATN3	4148	broad.mit.edu	37	2	20205860	20205860	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:20205860G>A	ENST00000407540.3	-	2	497	c.435C>T	c.(433-435)tcC>tcT	p.S145S	MATN3_ENST00000421259.2_Silent_p.S145S	NM_002381.4	NP_002372.1	O15232	MATN3_HUMAN	matrilin 3	145	VWFA.				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGCTTCAGGGACTGCTTAT	0.572000													23	33					0	0	1	0	0
ZSCAN2	54993	broad.mit.edu	37	15	85147237	85147237	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr15:85147237G>A	ENST00000448803.2	+	2	371	c.79G>A	c.(79-81)Gag>Aag	p.E27K	ZSCAN2_ENST00000334141.3_Missense_Mutation_p.E27K|ZSCAN2_ENST00000327179.6_Missense_Mutation_p.E27K|ZSCAN2_ENST00000541040.1_Missense_Mutation_p.E27K|ZSCAN2_ENST00000538076.1_Missense_Mutation_p.E27K|ZSCAN2_ENST00000485222.2_Missense_Mutation_p.E27K|ZSCAN2_ENST00000379358.3_Missense_Mutation_p.E27K|ZSCAN2_ENST00000358472.3_Intron|ZSCAN2_ENST00000546148.1_Missense_Mutation_p.E27K	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	27					cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		AGATAGACAGGAGGAGGAGGT	0.587000													59	6					0	0	1	0	0
ASAP2	8853	broad.mit.edu	37	2	9520890	9520890	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:9520890C>T	ENST00000281419.3	+	20	2309	c.1969C>T	c.(1969-1971)Ccg>Tcg	p.P657S	ASAP2_ENST00000315273.4_Missense_Mutation_p.P657S	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	657					regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						AGGAGAGACTCCGCTGGACAT	0.557000													73	102					0	0	1	0	0
GRM2	2912	broad.mit.edu	37	3	51749250	51749250	+	Missense_Mutation	SNP	G	G	C			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:51749250G>C	ENST00000395052.3	+	4	1695	c.1461G>C	c.(1459-1461)tgG>tgC	p.W487C	GRM2_ENST00000475478.1_3'UTR|GRM2_ENST00000442933.2_Intron	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	487					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	TCATCCCATGGGCCTCACCCT	0.637000													10	9					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179621414	179621414	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:179621414C>T	ENST00000589042.1	-	46	11013	c.10789G>A	c.(10789-10791)Gaa>Aaa	p.E3597K	TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000342175.6_Missense_Mutation_p.E3426K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000360870.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3283							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)			GACTTAATTTCCTTTTGAGAT	0.408000													19	46					0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17699232	17699232	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:17699232G>A	ENST00000353383.1	+	3	3439	c.2970G>A	c.(2968-2970)gaG>gaA	p.E990E	RAI1_ENST00000261641.6_Silent_p.E990E	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	990						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CAAAGAAAGAGCCTGTGCCAC	0.672000													22	7					0	0	1	0	0
NDUFB7	4713	broad.mit.edu	37	19	14676961	14676961	+	Missense_Mutation	SNP	G	G	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:14676961G>T	ENST00000215565.2	-	3	459	c.398C>A	c.(397-399)cCc>cAc	p.P133H		NM_004146.5	NP_004137.2	P17568	NDUB7_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 7, 18kDa	133					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8					NADH(DB00157)	GGCCACCTTGGGGTCCACTTC	0.637000													6	8					0.0215528	0.0216286	1	1	0
DNAH10	196385	broad.mit.edu	37	12	124283897	124283897	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:124283897G>A	ENST00000409039.3	+	13	1939	c.1914G>A	c.(1912-1914)atG>atA	p.M638I		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	638	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAGCTCTCATGAAGAAGAGCC	0.498000													26	14					0	0	1	0	0
NPSR1	387129	broad.mit.edu	37	7	34818158	34818158	+	Missense_Mutation	SNP	G	G	A	rs35436513	by1000genomes	TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:34818158G>A	ENST00000360581.1	+	3	493	c.365G>A	c.(364-366)cGa>cAa	p.R122Q	NPSR1_ENST00000381542.1_Intron|NPSR1_ENST00000531252.1_Missense_Mutation_p.R111Q|NPSR1_ENST00000381553.3_Missense_Mutation_p.R122Q|NPSR1_ENST00000381539.3_Missense_Mutation_p.R122Q|NPSR1_ENST00000359791.1_Missense_Mutation_p.R122Q	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	122			R -> Q (in dbSNP:rs35436513).			cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity	p.R122Q(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CTGGTTTGCCGAGTGGTCCGC	0.403000													30	33					0	0	1	0	0
COL18A1	80781	broad.mit.edu	37	21	46901895	46901895	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr21:46901895G>A	ENST00000359759.4	+	13	2896	c.2875G>A	c.(2875-2877)Gga>Aga	p.G959R	COL18A1_ENST00000355480.5_Missense_Mutation_p.G724R|COL18A1_ENST00000400337.2_Missense_Mutation_p.G544R			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	959	Triple-helical region 3 (COL3).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		AGGCCCTCCGGGAAGAGAGGG	0.602000													27	24					0	0	1	0	0
ACAD9	28976	broad.mit.edu	37	3	128598594	128598594	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:128598594G>A	ENST00000308982.7	+	1	141	c.60G>A	c.(58-60)ctG>ctA	p.L20L		NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	20						mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						GCCGGGGTCTGGTGGTCTCTA	0.642000													70	67					0	0	1	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70585410	70585410	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr8:70585410G>A	ENST00000260126.3	-	10	2947	c.2241C>T	c.(2239-2241)ttC>ttT	p.F747F	SLCO5A1_ENST00000524945.1_3'UTR|SLCO5A1_ENST00000530307.1_Silent_p.F692F	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	747						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TAAACCCAACGAATTTGAGGC	0.488000													66	97					0	0	1	0	0
GDF5	8200	broad.mit.edu	37	20	34025252	34025252	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr20:34025252C>T	ENST00000374372.1	-	3	960	c.457G>A	c.(457-459)Ggg>Agg	p.G153R	GDF5_ENST00000374369.3_Missense_Mutation_p.G153R			P43026	GDF5_HUMAN	growth differentiation factor 5	153					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			CGTGGGGGCCCGGGCTCCCTG	0.632000													57	82					0	0	1	0	0
PAX2	5076	broad.mit.edu	37	10	102568881	102568881	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr10:102568881C>T	ENST00000370296.2	+	8	1426	c.876C>T	c.(874-876)tcC>tcT	p.S292S	PAX2_ENST00000355243.3_Silent_p.S269S|PAX2_ENST00000556085.1_Silent_p.S268S|PAX2_ENST00000428433.1_Silent_p.S292S|PAX2_ENST00000361791.3_Silent_p.S269S			Q02962	PAX2_HUMAN	paired box 2	292					anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		ACGAGTACTCCCTCCCAGCCC	0.572000													91	29					0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	100211920	100211920	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:100211920G>A	ENST00000524871.1	+	23	3303	c.3013G>A	c.(3013-3015)Gaa>Aaa	p.E1005K	CNTN5_ENST00000528682.1_Missense_Mutation_p.E1005K|CNTN5_ENST00000279463.3_Missense_Mutation_p.E1005K|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000418526.2_Missense_Mutation_p.E931K	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	1005	Fibronectin type-III 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CAACGAATCTGAAGTTGTGGG	0.433000													45	85					0	0	1	0	0
SIX6	4990	broad.mit.edu	37	14	60976584	60976584	+	Missense_Mutation	SNP	C	C	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:60976584C>A	ENST00000327720.5	+	1	916	c.468C>A	c.(466-468)agC>agA	p.S156R		NM_007374.2	NP_031400.2	O95475	SIX6_HUMAN	SIX homeobox 6	156					organ morphogenesis|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.088)		CTAACCCCAGCAAAAAACGTG	0.602000													3	25					1	1	1	1	0
DNAH17	8632	broad.mit.edu	37	17	76490157	76490157	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:76490157G>A	ENST00000389840.5	-	41	6451	c.6327C>T	c.(6325-6327)tcC>tcT	p.S2109S	RP11-559N14.5_ENST00000591373.1_RNA|DNAH17_ENST00000585328.1_Silent_p.S2118S|RP11-559N14.5_ENST00000585969.1_RNA					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CGATGAACACGGAGTGGCGGA	0.637000													13	29					0	0	1	0	0
NAALADL2	254827	broad.mit.edu	37	3	175473111	175473111	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:175473111G>A	ENST00000454872.1	+	13	2222	c.2094G>A	c.(2092-2094)aaG>aaA	p.K698K		NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	698					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		ATGATCCCAAGGAGAGAGCAC	0.493000													10	36					0	0	1	0	0
BTNL2	56244	broad.mit.edu	37	6	32369581	32369581	+	Splice_Site	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr6:32369581C>T	ENST00000454136.3	-	4	715	c.709_splice	c.e4-1	p.E237_splice	BTNL2_ENST00000429232.2_Intron|BTNL2_ENST00000374995.3_Intron|BTNL2_ENST00000414363.1_Splice_Site_p.E27_splice|BTNL2_ENST00000540315.1_Intron|BTNL2_ENST00000544175.1_5'UTR|BTNL2_ENST00000374993.1_Splice_Site_p.E237_splice			Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	237	Ig-like V-type 3.					integral to membrane				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						TCTGGAGTTTCTCTGGAAAAA	0.448000													14	26					0	0	1	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84607227	84607227	+	Silent	SNP	G	G	C			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr9:84607227G>C	ENST00000344803.2	+	4	1889	c.1842G>C	c.(1840-1842)cgG>cgC	p.R614R		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		ACGAGGCACGGTCTCTTTTGC	0.483000													41	12					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73679775	73679775	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:73679775C>T	ENST00000264448.6	+	8	6229	c.6118C>T	c.(6118-6120)Cag>Tag	p.Q2040*	ALMS1_ENST00000377715.1_Nonsense_Mutation_p.Q2040*|ALMS1_ENST00000409009.1_Nonsense_Mutation_p.Q1998*	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2040	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GACTCCATCCCAGACAGCTTT	0.388000													84	110					0	0	1	0	0
RTL1	388015	broad.mit.edu	37	14	101348391	101348391	+	Missense_Mutation	SNP	G	G	C			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:101348391G>C	ENST00000534062.1	-	1	2793	c.2735C>G	c.(2734-2736)cCt>cGt	p.P912R		NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN	retrotransposon-like 1	912										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						AACCTCGATAGGGGAGATGTT	0.592000													11	19					0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92760924	92760924	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:92760924G>A	ENST00000318238.4	-	5	5577	c.4361C>T	c.(4360-4362)tCc>tTc	p.S1454F	SAMD9L_ENST00000437805.1_Missense_Mutation_p.S1454F|SAMD9L_ENST00000411955.1_Missense_Mutation_p.S1454F	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1454										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TCTATTTAAGGATGAAACATA	0.428000													75	146					0	0	1	0	0
NMRK1	54981	broad.mit.edu	37	9	77684849	77684849	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr9:77684849G>A	ENST00000376811.1	-	6	753	c.291C>T	c.(289-291)ccC>ccT	p.P97P	NMRK1_ENST00000376808.4_Silent_p.P93P|NMRK1_ENST00000361092.4_Silent_p.P93P			Q9NWW6	NRK1_HUMAN	nicotinamide riboside kinase 1	93					pyridine nucleotide biosynthetic process		ATP binding|metal ion binding|ribosylnicotinamide kinase activity										TGATTAAAATGGGAATTTCCT	0.398000													37	22					0	0	1	0	0
GABRA4	2557	broad.mit.edu	37	4	46976370	46976370	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr4:46976370C>T	ENST00000264318.3	-	6	1582	c.600G>A	c.(598-600)atG>atA	p.M200I		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	200					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.M200I(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AGGTATAGATCATCTCACTCT	0.403000													16	56					0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189950480	189950480	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:189950480C>T	ENST00000374866.3	-	10	983	c.709G>A	c.(709-711)Gga>Aga	p.G237R		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	237					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCAGGAGGTCCTGTAGGTCCT	0.388000													15	23					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78925602	78925602	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr9:78925602C>T	ENST00000545128.1	+	29	4176	c.3638C>T	c.(3637-3639)tCc>tTc	p.S1213F		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	865					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GCCTGTGTTTCCTCCTGTCCC	0.512000													20	3					0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121746728	121746728	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:121746728G>A	ENST00000452319.1	+	14	3298	c.3238G>A	c.(3238-3240)Gag>Aag	p.E1080K	GLI2_ENST00000314490.11_Missense_Mutation_p.E752K|GLI2_ENST00000361492.4_Missense_Mutation_p.E1080K			P10070	GLI2_HUMAN	GLI family zinc finger 2	1080					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	p.E1080*(1)		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)				CGCTCTGGACGAGGGCACCGG	0.692000													51	100					0	0	1	0	0
PRLH	51052	broad.mit.edu	37	2	238475806	238475806	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:238475806C>T	ENST00000165524.1	+	2	252	c.252C>T	c.(250-252)tcC>tcT	p.S84S		NM_015893.1	NP_056977.1	P81277	PRRP_HUMAN	prolactin releasing hormone	84						extracellular region				endometrium(1)|large_intestine(1)	2		Lung NSC(271;0.142)|all_lung(227;0.175)		Epithelial(121;8.28e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.03e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.19e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000329)|Lung(119;0.0106)|LUSC - Lung squamous cell carcinoma(224;0.0249)		CTATGTCGTCCCAGGATGGCT	0.637000													17	13					0	0	1	0	0
HGS	9146	broad.mit.edu	37	17	79663933	79663933	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:79663933C>T	ENST00000329138.4	+	18	1922	c.1787C>T	c.(1786-1788)gCc>gTc	p.A596V		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	596	Gln-rich.|Interaction with NF2.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			TTCAGCCCTGCCGGCTCGGTG	0.692000													52	80					0	0	1	0	0
PCDHA2	56146	broad.mit.edu	37	5	140176904	140176904	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:140176904G>A	ENST00000526136.1	+	1	2355	c.2355G>A	c.(2353-2355)gaG>gaA	p.E785E	PCDHA2_ENST00000520672.2_Silent_p.E785E|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Silent_p.E785E	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCAGAAGAGAAACAGCTCT	0.453000													32	69					0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186672369	186672369	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:186672369C>T	ENST00000343098.5	+	17	18603	c.18603C>T	c.(18601-18603)atC>atT	p.I6201I	FSIP2_ENST00000424728.1_Silent_p.I6112I	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						GATGCAAAATCCTTTCAGAAA	0.378000													39	94					0	0	1	0	0
ICAM4	3386	broad.mit.edu	37	19	10397970	10397970	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:10397970G>A	ENST00000393717.2	+	1	291	c.282G>A	c.(280-282)ccG>ccA	p.P94P	CTD-2369P2.8_ENST00000589379.1_RNA|ICAM4_ENST00000380770.3_Silent_p.P94P|ICAM4_ENST00000340992.4_Silent_p.P94P	NM_022377.3	NP_071772.1	Q14773	ICAM4_HUMAN	intercellular adhesion molecule 4 (Landsteiner-Wiener blood group)	94	Ig-like C2-type 1.				cell-cell adhesion|regulation of immune response	extracellular region|integral to membrane|plasma membrane	integrin binding			breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			TCAGAGGGCCGGGTTGGGTGT	0.652000													3	46					0	0	1	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587657	43587657	+	RNA	SNP	C	C	T	rs148404065	by1000genomes	TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:43587657C>T	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							GGTGACAACACATCTGTTTTA	0.323000													6	97					0	0	1	0	0
OR5T2	219464	broad.mit.edu	37	11	55999642	55999642	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:55999642C>T	ENST00000313264.4	-	1	1095	c.1020G>A	c.(1018-1020)atG>atA	p.M340I		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	340					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					ACATTTTTTTCATTGAGTCTT	0.333000													36	42					0	0	1	0	0
GLTSCR1	29998	broad.mit.edu	37	19	48198167	48198167	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:48198167G>A	ENST00000396720.3	+	9	3100	c.2906G>A	c.(2905-2907)gGa>gAa	p.G969E	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	969							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		GTGCCGTCCGGAATCATCCTC	0.677000													15	32					0	0	1	0	0
TAX1BP1	8887	broad.mit.edu	37	7	27868344	27868344	+	Missense_Mutation	SNP	G	G	C			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:27868344G>C	ENST00000396319.2	+	17	2354	c.2266G>C	c.(2266-2268)Gtg>Ctg	p.V756L	TAX1BP1_ENST00000433216.2_Missense_Mutation_p.V557L|TAX1BP1_ENST00000543117.1_Missense_Mutation_p.V714L|TAX1BP1_ENST00000409980.1_Missense_Mutation_p.V780L|TAX1BP1_ENST00000488564.1_3'UTR|TAX1BP1_ENST00000265393.6_Missense_Mutation_p.V714L	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	756					anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			TCACTGGAAGGTGTGCCCGAT	0.433000													48	81					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141734623	141734623	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:141734623C>T	ENST00000475668.2	+	16	1995	c.1941C>T	c.(1939-1941)aaC>aaT	p.N647N	MGAM_ENST00000549489.2_Silent_p.N647N			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	647	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTGAGTTCAACCTTTTTGGCA	0.502000													16	39					0	0	1	0	0
TCTN1	79600	broad.mit.edu	37	12	111080194	111080194	+	Splice_Site	SNP	G	G	C			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:111080194G>C	ENST00000551590.1	+	11	1487	c.1331_splice	c.e11+1	p.R444_splice	HVCN1_ENST00000548312.1_Intron|TCTN1_ENST00000397655.3_Splice_Site_p.R430_splice|TCTN1_ENST00000397659.4_Splice_Site_p.R444_splice|TCTN1_ENST00000377654.3_Intron			Q2MV58	TECT1_HUMAN	tectonic family member 1	444					multicellular organismal development	extracellular region				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						TGTAAACTAAGGTAAAAGAGT	0.413000													24	21					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152280121	152280121	+	Missense_Mutation	SNP	A	A	G			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:152280121A>G	ENST00000368799.1	-	3	7276	c.7241T>C	c.(7240-7242)tTc>tCc	p.F2414S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2414	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)			CTGGTAGAGGAAAGACCCTGA	0.612000									Ichthyosis				141	220					0	0	1	0	0
FGF3	2248	broad.mit.edu	37	11	69625098	69625098	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:69625098G>A	ENST00000334134.2	-	3	785	c.695C>T	c.(694-696)tCc>tTc	p.S232F		NM_005247.2	NP_005238.1	P11487	FGF3_HUMAN	fibroblast growth factor 3	232					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of cardiac muscle tissue development|positive regulation of cell division|positive regulation of cell proliferation	extracellular region	growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)			CTCCAGCTGGGAGCCCAGTCT	0.672000													7	12					0	0	1	0	0
C3	718	broad.mit.edu	37	19	6694576	6694576	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:6694576G>A	ENST00000245907.6	-	24	3112	c.3020C>T	c.(3019-3021)cCc>cTc	p.P1007L		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1007					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GCAGCCCGAGGGGGTCACAAT	0.607000													35	59					0	0	1	0	0
PCYOX1	51449	broad.mit.edu	37	2	70486650	70486650	+	Missense_Mutation	SNP	G	G	C			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:70486650G>C	ENST00000433351.2	+	2	299	c.271G>C	c.(271-273)Gtc>Ctc	p.V91L	PCYOX1_ENST00000545138.1_Missense_Mutation_p.V13L|PCYOX1_ENST00000505044.2_Missense_Mutation_p.V14L|PCYOX1_ENST00000264441.5_Missense_Mutation_p.V91L	NM_016297.3	NP_057381.3	Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1	91					prenylated protein catabolic process	lysosome|very-low-density lipoprotein particle	prenylcysteine oxidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						AGGAGGTTCTGTCATCCATCC	0.488000													161	262					0	0	1	0	0
VPS18	57617	broad.mit.edu	37	15	41188156	41188156	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr15:41188156G>A	ENST00000220509.5	+	2	451	c.112G>A	c.(112-114)Gag>Aag	p.E38K	VPS18_ENST00000558474.1_Missense_Mutation_p.E38K	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	38					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		TGCCCAGCTGGAGAAGGAAGT	0.507000													80	33					0	0	1	0	0
MGAT5B	146664	broad.mit.edu	37	17	74878370	74878370	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:74878370C>T	ENST00000569840.2	+	3	893	c.319C>T	c.(319-321)Ccc>Tcc	p.P107S	MGAT5B_ENST00000374998.3_3'UTR|MGAT5B_ENST00000301618.4_Missense_Mutation_p.P107S|MGAT5B_ENST00000428789.2_Missense_Mutation_p.P118S|MGAT5B_ENST00000565675.1_Missense_Mutation_p.P107S	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	107						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCTGCACTTTCCCGCAGACAG	0.662000													15	15					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2857628	2857628	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr8:2857628C>T	ENST00000602557.1	-	54	8613	c.8058G>A	c.(8056-8058)ccG>ccA	p.P2686P	CSMD1_ENST00000400186.3_Silent_p.P2628P|CSMD1_ENST00000602723.1_Silent_p.P2628P|CSMD1_ENST00000542608.1_Silent_p.P2627P|CSMD1_ENST00000520002.1_Silent_p.P2686P|CSMD1_ENST00000537824.1_Silent_p.P2685P			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2686	Sushi 18.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CGTTCACAATCGGGTCTGGGG	0.423000													32	63					0	0	1	0	0
TMEM229B	161145	broad.mit.edu	37	14	67940434	67940434	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:67940434G>A	ENST00000357461.2	-	3	616	c.207C>T	c.(205-207)ggC>ggT	p.G69G	TMEM229B_ENST00000557006.1_Silent_p.G69G	NM_182526.2	NP_872332.1	Q8NBD8	T229B_HUMAN	transmembrane protein 229B	69						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GCGGGCAGCGGCCGCGCAGCC	0.637000													8	5					0	0	1	0	0
NCOR2	9612	broad.mit.edu	37	12	124824947	124824947	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:124824947G>A	ENST00000356219.3	-	37	5557	c.5402C>T	c.(5401-5403)tCc>tTc	p.S1801F	NCOR2_ENST00000429285.2_Missense_Mutation_p.S1784F|NCOR2_ENST00000404121.2_Missense_Mutation_p.S1355F|NCOR2_ENST00000397355.1_Missense_Mutation_p.S1785F|NCOR2_ENST00000404621.1_Missense_Mutation_p.S1784F|NCOR2_ENST00000405201.1_Missense_Mutation_p.S1794F	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1802					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)		CTCCCGCTCGGACGAGGACGT	0.622000													25	8					0	0	1	0	0
RSC1A1	6248	broad.mit.edu	37	1	15987431	15987431	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:15987431G>A	ENST00000345034.1	+	1	1068	c.1068G>A	c.(1066-1068)ttG>ttA	p.L356L	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	356					negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CGGCAGCCTTGAAAGAACTTC	0.428000													34	8					0	0	1	0	0
ZNF555	148254	broad.mit.edu	37	19	2852659	2852659	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:2852659C>T	ENST00000334241.4	+	4	734	c.596C>T	c.(595-597)cCc>cTc	p.P199L	AC006130.3_ENST00000589365.1_RNA|ZNF555_ENST00000591539.1_Missense_Mutation_p.P198L	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	199					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAGAGAGACCCTATGTGTGT	0.463000													51	87					0	0	1	0	0
QRICH2	84074	broad.mit.edu	37	17	74287323	74287323	+	Missense_Mutation	SNP	T	T	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:74287323T>A	ENST00000262765.5	-	4	3166	c.2987A>T	c.(2986-2988)gAc>gTc	p.D996V		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	996							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						TAAGACTCGGTCGACGGAGTC	0.537000													35	69					0	0	1	0	0
PTK7	5754	broad.mit.edu	37	6	43106993	43106993	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr6:43106993C>T	ENST00000230419.4	+	9	1703	c.1482C>T	c.(1480-1482)gcC>gcT	p.A494A	PTK7_ENST00000349241.2_Intron|PTK7_ENST00000345201.2_Silent_p.A494A|PTK7_ENST00000352931.2_Silent_p.A494A|PTK7_ENST00000481273.1_Silent_p.A502A	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	494	Ig-like C2-type 5.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			AGGCGCAAGCCCGTGTCCAAG	0.622000													23	51					0	0	1	0	0
LBP	3929	broad.mit.edu	37	20	36993332	36993332	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr20:36993332G>A	ENST00000217407.2	+	8	1008	c.847G>A	c.(847-849)Gat>Aat	p.D283N		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	283			D -> G (in dbSNP:rs2232607).		acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				TGCCATCTCGGATTATGTCTT	0.468000													75	100					0	0	1	0	0
PRKRIP1	79706	broad.mit.edu	37	7	102036926	102036926	+	Missense_Mutation	SNP	T	T	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:102036926T>A	ENST00000496391.1	+	5	1378	c.68T>A	c.(67-69)aTc>aAc	p.I23N	PRKRIP1_ENST00000354783.4_5'UTR|PRKRIP1_ENST00000462601.1_Intron|PRKRIP1_ENST00000397912.3_Missense_Mutation_p.I23N|PRKRIP1_ENST00000482465.1_Intron			Q9H875	PKRI1_HUMAN	PRKR interacting protein 1 (IL11 inducible)	23	Interaction with EIF2AK2 (By similarity).					nucleolus				endometrium(1)|lung(4)|ovary(1)	6						ACGCTCGTCATCCCCAAGAAT	0.672000													25	39					0	0	1	0	0
RASSF4	83937	broad.mit.edu	37	10	45465704	45465704	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr10:45465704C>T	ENST00000334940.6	+	2	188	c.54C>T	c.(52-54)tcC>tcT	p.S18S	RASSF4_ENST00000374417.2_Silent_p.S18S|RASSF4_ENST00000340258.4_Silent_p.S18S			Q9H2L5	RASF4_HUMAN	Ras association (RalGDS/AF-6) domain family member 4	18					cell cycle|signal transduction		protein binding			NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						ACAGCAAGTCCATTCAGAAGT	0.537000													39	98					0	0	1	0	0
OR6N1	128372	broad.mit.edu	37	1	158735579	158735579	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:158735579C>T	ENST00000335094.2	-	1	913	c.894G>A	c.(892-894)aaG>aaA	p.K298K		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					TCACAGCCTCCTTGATCTCCT	0.562000													85	116					0	0	1	0	0
CRX	1406	broad.mit.edu	37	19	48343058	48343058	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:48343058C>T	ENST00000221996.7	+	4	940	c.734C>T	c.(733-735)tCc>tTc	p.S245F	TPRX2P_ENST00000535362.1_Intron|CRX_ENST00000539067.1_Missense_Mutation_p.S245F	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	245					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		GTGGGACCTTCCCTGGCCCAG	0.637000													107	205					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82544905	82544905	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:82544905G>A	ENST00000423517.2	-	7	12734	c.12397C>T	c.(12397-12399)Cgt>Tgt	p.R4133C	PCLO_ENST00000333891.8_Missense_Mutation_p.R4133C|PCLO_ENST00000437081.1_Missense_Mutation_p.R853C	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4064					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTCCCTCTACGAAATTCCTGT	0.408000													46	67					0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36483101	36483101	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:36483101C>T	ENST00000342292.4	-	11	6371	c.6351G>A	c.(6349-6351)tgG>tgA	p.W2117*	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	2117						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CTACCACTTCCCACAGACACA	0.587000													53	89					0	0	1	0	0
MARVELD2	153562	broad.mit.edu	37	5	68715383	68715383	+	Silent	SNP	C	C	T	rs142002229		TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:68715383C>T	ENST00000325631.5	+	2	245	c.171C>T	c.(169-171)ttC>ttT	p.F57F	MARVELD2_ENST00000413223.2_Silent_p.F57F	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2	57					sensory perception of sound	integral to membrane|tight junction				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		AGCCACCATTCGGCCCAGACT	0.522000													63	46					0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17432173	17432173	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:17432173G>A	ENST00000302539.4	-	22	2712	c.2587C>T	c.(2587-2589)Cat>Tat	p.H863Y	ABCC8_ENST00000389817.3_Missense_Mutation_p.H862Y	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	862	ABC transporter 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	TCACTCAGATGGATATCCAGA	0.547000													49	80					0	0	1	0	0
KLHL40	131377	broad.mit.edu	37	3	42730461	42730461	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:42730461C>T	ENST00000287777.4	+	4	1622	c.1522C>T	c.(1522-1524)Cat>Tat	p.H508Y		NM_152393.2	NP_689606.2			kelch-like family member 40																		GGCCACTGTCCATGATGGCCG	0.552000													12	49					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57579590	57579590	+	Missense_Mutation	SNP	C	C	T	rs140707279	by1000genomes	TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:57579590C>T	ENST00000243077.3	+	41	7206	c.6740C>T	c.(6739-6741)aCc>aTc	p.T2247I		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2247					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CGGGCAGGCACCTCTCCGGGC	0.582000													40	68					0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77700219	77700219	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr4:77700219C>T	ENST00000296043.6	+	11	6833	c.5880C>T	c.(5878-5880)ttC>ttT	p.F1960F	RP11-359D14.3_ENST00000449007.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1960					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CCTCAGATTTCATTCCCAAGG	0.557000													24	63					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179470198	179470198	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:179470198C>T	ENST00000589042.1	-	279	54048	c.53824G>A	c.(53824-53826)Gaa>Aaa	p.E17942K	TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E16301K|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E9069K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E9002K|TTN_ENST00000342992.6_Missense_Mutation_p.E15374K|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E8877K|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16301	Fibronectin type-III 30.						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)			TCACCAATTTCATTGACAGCT	0.363000													27	64					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41577323	41577323	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr8:41577323G>A	ENST00000396942.1	-	10	1046	c.963C>T	c.(961-963)gtC>gtT	p.V321V	ANK1_ENST00000396945.1_Silent_p.V321V|ANK1_ENST00000352337.4_Silent_p.V321V|ANK1_ENST00000265709.8_Silent_p.V354V|ANK1_ENST00000289734.7_Silent_p.V321V|ANK1_ENST00000379758.2_Silent_p.V321V|ANK1_ENST00000347528.4_Silent_p.V321V			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	321	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			ACAGGAGCCGGACACAGTCGA	0.577000													72	78					0	0	1	0	0
UNC5B	219699	broad.mit.edu	37	10	73051547	73051547	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr10:73051547C>T	ENST00000335350.6	+	10	2069	c.1653C>T	c.(1651-1653)tgC>tgT	p.C551C	UNC5B_ENST00000373192.4_Silent_p.C540C	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	551	ZU5.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						CCTTTGGCTGCCTGGGTGGGA	0.682000													11	31					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10408294	10408294	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:10408294G>A	ENST00000226207.5	-	22	2618	c.2524C>T	c.(2524-2526)Ccc>Tcc	p.P842S	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	842						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						TTGAGGAGGGGTTTGATCTTG	0.458000													53	69					0	0	1	0	0
CC2D1A	54862	broad.mit.edu	37	19	14024387	14024387	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:14024387G>A	ENST00000318003.7	+	6	925	c.684G>A	c.(682-684)ctG>ctA	p.L228L	CC2D1A_ENST00000589606.1_Silent_p.L228L	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	228	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)			GGGTCACCCTGGAGGGACCTT	0.672000													27	35					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10362664	10362664	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:10362664G>A	ENST00000255381.2	-	15	1601	c.1491C>T	c.(1489-1491)ttC>ttT	p.F497F	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	497	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCTCCAGCACGAACATGTGGT	0.483000													68	94					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195497107	195497107	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:195497107G>A	ENST00000463781.3	-	6	13837	c.13378C>T	c.(13378-13380)Cct>Tct	p.P4460S	MUC4_ENST00000349607.4_Missense_Mutation_p.P173S|MUC4_ENST00000475231.1_Intron|MUC4_ENST00000346145.4_Missense_Mutation_p.P224S	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1217					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CACTGGGCAGGATAGGCGTGG	0.592000													6	10					0	0	1	0	0
KRT9	3857	broad.mit.edu	37	17	39728057	39728057	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:39728057C>T	ENST00000246662.4	-	1	253	c.188G>A	c.(187-189)aGg>aAg	p.R63K	KRT9_ENST00000588431.1_Intron	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	63	Head.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				ACCGCCTCCCCTCCCACAGAC	0.612000													15	17					0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150437134	150437134	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:150437134G>T	ENST00000401000.4	+	9	1530	c.1465G>T	c.(1465-1467)Gag>Tag	p.E489*	RPRD2_ENST00000539519.1_Nonsense_Mutation_p.E489*|RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Nonsense_Mutation_p.E515*			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	515	Ser-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CTCCAAGGTGGAGATCACCCC	0.542000											OREG0013786	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	11					3.27435e-08	3.32388e-08	1	1	0
A2ML1	144568	broad.mit.edu	37	12	8991815	8991815	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:8991815G>A	ENST00000299698.7	+	10	1257	c.1077G>A	c.(1075-1077)ggG>ggA	p.G359G		NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	203						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CCTTCAGTGGGAAGGTATGTT	0.408000													11	27					0	0	1	0	0
SEC14L3	266629	broad.mit.edu	37	22	30862999	30862999	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr22:30862999G>A	ENST00000403066.1	-	7	595	c.312C>T	c.(310-312)ttC>ttT	p.F104F	SEC14L3_ENST00000539629.1_Silent_p.F104F|SEC14L3_ENST00000215812.4_Silent_p.F163F|SEC14L3_ENST00000415957.2_Silent_p.F104F|SEC14L3_ENST00000540910.1_Silent_p.F86F|SEC14L3_ENST00000402286.1_Silent_p.F86F|SEC14L3_ENST00000401751.1_Silent_p.F104F			Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	163	CRAL-TRIO.					integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	GAGGTTTCCAGAAGTGTTTCA	0.522000													39	65					0	0	1	0	0
OR13C5	138799	broad.mit.edu	37	9	107361077	107361077	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr9:107361077G>A	ENST00000374779.2	-	1	711	c.618C>T	c.(616-618)ttC>ttT	p.F206F		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						GTGTCAATAGGAACAATGTTG	0.398000													84	139					0	0	1	0	0
HIST1H2AA	221613	broad.mit.edu	37	6	25726749	25726749	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr6:25726749C>T	ENST00000297012.3	-	1	41	c.7G>A	c.(7-9)Gga>Aga	p.G3R		NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	3					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						TTCCCTCGTCCAGACATCTCC	0.522000													54	113					0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92731610	92731610	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:92731610G>A	ENST00000379958.2	-	3	4070	c.3801C>T	c.(3799-3801)tcC>tcT	p.S1267S		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1267						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			AAAAATCAAAGGACTTTTTCA	0.318000													39	46					0	0	1	0	0
CYP4V2	285440	broad.mit.edu	37	4	187130114	187130114	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr4:187130114C>T	ENST00000378802.4	+	9	1490	c.1186C>T	c.(1186-1188)Cct>Tct	p.P396S	CYP4V2_ENST00000502665.1_3'UTR	NM_207352.3	NP_997235.3	Q6ZWL3	CP4V2_HUMAN	cytochrome P450, family 4, subfamily V, polypeptide 2	396					response to stimulus|visual perception	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		TCCTTCTGTTCCTTTATTTGC	0.438000													24	52					0	0	1	0	0
SPRY1	10252	broad.mit.edu	37	4	124322915	124322915	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr4:124322915C>T	ENST00000394339.2	+	2	509	c.169C>T	c.(169-171)Cct>Tct	p.P57S	SPRY1_ENST00000339241.1_Missense_Mutation_p.P57S	NM_001258039.1|NM_005841.2	NP_001244968.1|NP_005832.1	O43609	SPY1_HUMAN	sprouty homolog 1, antagonist of FGF signaling (Drosophila)	57					epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|lamellipodium|plasma membrane				NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						CACAGAAGGGCCTTCGGTGGT	0.433000													27	124					0	0	1	0	0
C22orf42	150297	broad.mit.edu	37	22	32545752	32545752	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr22:32545752C>T	ENST00000382097.3	-	8	742	c.670G>A	c.(670-672)Gaa>Aaa	p.E224K	C22orf42_ENST00000490640.1_5'UTR	NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	224										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						AGGTAATCTTCATATCTCTCC	0.338000													13	24					0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46786383	46786383	+	Splice_Site	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr22:46786383C>T	ENST00000262738.3	-	17	6250	c.6250_splice	c.e17-1	p.G2084_splice		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2084					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)		GACCGCATTTCCTGGGGAAGG	0.517000											OREG0026656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	13					0	0	1	0	0
SH3PXD2B	285590	broad.mit.edu	37	5	171765709	171765709	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:171765709G>A	ENST00000311601.5	-	13	2570	c.2400C>T	c.(2398-2400)gtC>gtT	p.V800V	SH3PXD2B_ENST00000519643.1_Intron	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	800	Pro-rich.				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTTTTGGAGGGACGAGGAGAG	0.617000													14	40					0	0	1	0	0
KCNA5	3741	broad.mit.edu	37	12	5153889	5153889	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:5153889C>T	ENST00000252321.3	+	1	805	c.576C>T	c.(574-576)tcC>tcT	p.S192S		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	192						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						TCAACGTCTCCCTGGACGTGT	0.612000													35	45					0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109771849	109771849	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr9:109771849G>A	ENST00000277225.5	+	12	7502	c.7213G>A	c.(7213-7215)Ggg>Agg	p.G2405R	RP11-508N12.2_ENST00000439901.1_RNA|ZNF462_ENST00000441147.2_Missense_Mutation_p.G1311R|ZNF462_ENST00000542028.1_Missense_Mutation_p.G362R|ZNF462_ENST00000457913.1_Missense_Mutation_p.G2465R			Q96JM2	ZN462_HUMAN	zinc finger protein 462	2405					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TTCTGACCACGGGGCTGCTCT	0.473000													29	37					0	0	1	0	0
EIF3K	27335	broad.mit.edu	37	19	39114828	39114828	+	Missense_Mutation	SNP	C	C	G			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:39114828C>G	ENST00000545173.2	+	3	346	c.270C>G	c.(268-270)gaC>gaG	p.D90E	EIF3K_ENST00000588934.1_Missense_Mutation_p.D90E|EIF3K_ENST00000593149.1_Missense_Mutation_p.D3E|EIF3K_ENST00000248342.4_Missense_Mutation_p.D90E|EIF3K_ENST00000538434.1_Missense_Mutation_p.D3E|EIF3K_ENST00000592558.1_Missense_Mutation_p.D90E|EIF3K_ENST00000593062.1_3'UTR			Q9UBQ5	EIF3K_HUMAN	eukaryotic translation initiation factor 3, subunit K	90					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex|nucleus	protein binding|ribosome binding|translation initiation factor activity		EIF3K/CYP39A1(2)	central_nervous_system(1)|endometrium(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GCATGATCGACCAGGCACATG	0.587000													18	43					0	0	1	0	0
RAVER1	125950	broad.mit.edu	37	19	10433941	10433941	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:10433941G>A	ENST00000293677.6	-	5	1090	c.1009C>T	c.(1009-1011)Cgg>Tgg	p.R337W		NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	320	Interaction with PTBP1 (By similarity).					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			CCCTTCCCCCGATTGAGGGCC	0.672000													19	29					0	0	1	0	0
DAOA	267012	broad.mit.edu	37	13	106124924	106124924	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr13:106124924G>A	ENST00000375936.3	+	3	217	c.171G>A	c.(169-171)agG>agA	p.R57R	DAOA-AS1_ENST00000448407.1_RNA|DAOA_ENST00000329625.5_5'UTR	NM_001161812.1|NM_172370.3	NP_001155284.1|NP_758958.3	P59103	DAOA_HUMAN	D-amino acid oxidase activator	57						Golgi apparatus				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	13	Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					CGGTAACAAGGAAAGAAGGAT	0.398000													13	39					0	0	1	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101834450	101834450	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:101834450C>T	ENST00000506729.1	-	1	270	c.99G>A	c.(97-99)agG>agA	p.R33R	SLCO6A1_ENST00000389019.3_Silent_p.R33R|SLCO6A1_ENST00000379807.3_Silent_p.R33R|SLCO6A1_ENST00000379810.1_Silent_p.R33R|SLCO6A1_ENST00000513675.1_Silent_p.R33R			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	33						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CCTTGGCCCTCCTGTCCTTAG	0.607000													107	245					0	0	1	0	0
GCC1	79571	broad.mit.edu	37	7	127222362	127222362	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:127222362C>T	ENST00000321407.2	-	2	2458	c.2034G>A	c.(2032-2034)gaG>gaA	p.E678E		NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	678						Golgi membrane|plasma membrane	protein binding			breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GCACCTCGACCTCCAGCCTGT	0.587000													37	60					0	0	1	0	0
PTPRH	5794	broad.mit.edu	37	19	55693424	55693424	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:55693424C>T	ENST00000376350.3	-	19	3180	c.3158G>A	c.(3157-3159)aGg>aAg	p.R1053K	PTPRH_ENST00000263434.5_Missense_Mutation_p.R875K	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	1053	Tyrosine-protein phosphatase.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TCTCATCTTCCTTACAAAGCT	0.632000													86	115					0	0	1	0	0
HCRTR2	3062	broad.mit.edu	37	6	55147023	55147023	+	Splice_Site	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr6:55147023G>A	ENST00000370862.3	+	7	1442	c.1105_splice	c.e7-1	p.G369_splice		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	369					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TGTTTGCCAGGAAAATTTCGA	0.438000													5	16					0	0	1	0	0
PMPCA	23203	broad.mit.edu	37	9	139317677	139317677	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr9:139317677G>A	ENST00000371717.3	+	13	1548	c.1539G>A	c.(1537-1539)aaG>aaA	p.K513K	PMPCA_ENST00000399219.3_Silent_p.K382K	NM_015160.1	NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	513					proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		TGTCGAGTAAGGACGGGCGCC	0.662000													17	31					0	0	1	0	0
YWHAG	7532	broad.mit.edu	37	7	75959290	75959290	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:75959290C>T	ENST00000307630.3	-	2	570	c.348G>A	c.(346-348)caG>caA	p.Q116Q		NM_012479.3	NP_036611.2	P61981	1433G_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide	116					G2/M transition of mitotic cell cycle|regulation of neuron differentiation|regulation of signal transduction|regulation of synaptic plasticity	cytosol	insulin-like growth factor receptor binding|protein kinase C binding|protein kinase C inhibitor activity			endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8						TGCTCTCGTACTGGGTCTCGC	0.547000													76	114					0	0	1	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145772573	145772573	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr8:145772573C>T	ENST00000276826.5	-	4	2098	c.1897G>A	c.(1897-1899)Gag>Aag	p.E633K	ARHGAP39_ENST00000377307.2_Missense_Mutation_p.E633K|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.E633K			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	633					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						ACGCTCTTCTCCAGCAGGATC	0.662000													16	25					0	0	1	0	0
METTL17	64745	broad.mit.edu	37	14	21464746	21464746	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:21464746G>T	ENST00000339374.6	+	13	1374	c.1141G>T	c.(1141-1143)Gag>Tag	p.E381*	METTL17_ENST00000382985.4_Nonsense_Mutation_p.E381*|RP11-84C10.4_ENST00000557335.1_RNA|METTL17_ENST00000556670.2_Nonsense_Mutation_p.E381*	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN	methyltransferase like 17	381					translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						GTCTCCAGAGGAGGCTCATCG	0.488000													20	27					8.00594e-06	8.08387e-06	1	1	0
OR5D13	390142	broad.mit.edu	37	11	55541018	55541018	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:55541018C>T	ENST00000361760.1	+	1	105	c.105C>T	c.(103-105)ttC>ttT	p.F35F		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	35					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)				TTTTCTTGTTCGTCTACACAG	0.398000													54	108					0	0	1	0	0
PDZD8	118987	broad.mit.edu	37	10	119044226	119044226	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr10:119044226G>A	ENST00000334464.5	-	5	2257	c.2018C>T	c.(2017-2019)tCg>tTg	p.S673L	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	673					intracellular signal transduction		metal ion binding	p.S673L(1)		kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		ACGGTCGTCCGAACTGTCCTT	0.433000													37	16					0	0	1	0	0
INSR	3643	broad.mit.edu	37	19	7172378	7172378	+	Silent	SNP	G	G	T	rs56135071		TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:7172378G>T	ENST00000341500.5	-	5	1230	c.1191C>A	c.(1189-1191)atC>atA	p.I397I	INSR_ENST00000302850.5_Silent_p.I397I	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	397					activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGGATCGGCGGATTTTTAGAT	0.478000													61	82					3.74213e-36	3.87105e-36	1	1	0
APOB	338	broad.mit.edu	37	2	21235041	21235041	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:21235041C>T	ENST00000233242.1	-	26	4826	c.4699G>A	c.(4699-4701)Gag>Aag	p.E1567K		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1567					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AAAGTCAGCTCGTAGTTCTCA	0.418000													21	42					0	0	1	0	0
SLC16A11	162515	broad.mit.edu	37	17	6946862	6946862	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:6946862G>A	ENST00000308009.1	-	1	380	c.43C>T	c.(43-45)Cac>Tac	p.H15Y	SLC16A11_ENST00000447225.1_5'UTR	NM_153357.1	NP_699188.1	Q8NCK7	MOT11_HUMAN	solute carrier family 16, member 11	15						integral to membrane|plasma membrane	symporter activity			endometrium(2)|kidney(2)|lung(2)|ovary(1)|skin(2)	9						AAACATCTGTGAGAGAAGCCT	0.716000													24	35					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32058099	32058099	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:32058099C>T	ENST00000438447.1	+	12	2478	c.2090C>T	c.(2089-2091)aCc>aTc	p.T697I	PDZD2_ENST00000282493.3_Missense_Mutation_p.T697I			O15018	PDZD2_HUMAN	PDZ domain containing 2	697					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AACTTCAATACCAGTGGGGGA	0.562000													82	45					0	0	1	0	0
SSTR5	6755	broad.mit.edu	37	16	1129540	1129540	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr16:1129540C>T	ENST00000293897.4	+	1	760	c.672C>T	c.(670-672)atC>atT	p.I224I	SSTR5_ENST00000562758.1_Intron|SSTR5_ENST00000397547.2_Silent_p.I224I	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	224					negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)	ACCTGCTCATCGTGGTGAAGG	0.687000													23	10					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79321791	79321791	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr9:79321791C>T	ENST00000428286.1	-	8	5522	c.4322G>A	c.(4321-4323)tGg>tAg	p.W1441*	PRUNE2_ENST00000376718.3_Nonsense_Mutation_p.W1800*			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1800					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AGATATTTGCCATGCAACATC	0.463000													7	4					0	0	1	0	0
TCEB3	6924	broad.mit.edu	37	1	24077922	24077922	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:24077922C>T	ENST00000418390.2	+	4	1176	c.905C>T	c.(904-906)tCc>tTc	p.S302F		NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	302					positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		AAGGCCCTCTCCAAAGAGGAG	0.552000											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	13					0	0	1	0	0
CCR2	729230	broad.mit.edu	37	3	46398990	46398990	+	Translation_Start_Site	SNP	A	A	T	rs34738867		TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:46398990A>T	ENST00000292301.4	+	0	457				CCR2_ENST00000400888.2_De_novo_Start_OutOfFrame|CCR2_ENST00000445132.2_De_novo_Start_OutOfFrame|CCR2_ENST00000465202.1_Intron	NM_001123041.2	NP_001116513.2	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2						astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		GGATTGAACAAGGACGCATTT	0.433000													23	40					0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189917479	189917479	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:189917479G>A	ENST00000374866.3	-	40	2985	c.2711C>T	c.(2710-2712)cCg>cTg	p.P904L		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	904					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			ACTTACAGGCGGACCTTGGGT	0.408000													14	22					0	0	1	0	0
RBPJL	11317	broad.mit.edu	37	20	43944838	43944838	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr20:43944838C>T	ENST00000343694.3	+	10	1104	c.1032C>T	c.(1030-1032)tgC>tgT	p.C344C	RBPJL_ENST00000372741.3_Silent_p.C344C|RBPJL_ENST00000464504.1_Intron|RBPJL_ENST00000372743.1_Silent_p.C344C	NM_014276.2	NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	344					signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				CCTCTCCCTGCCCCAAGGAGG	0.617000													31	66					0	0	1	0	0
TMEM214	54867	broad.mit.edu	37	2	27263260	27263260	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:27263260G>A	ENST00000238788.9	+	16	1901	c.1839G>A	c.(1837-1839)ctG>ctA	p.L613L	TMEM214_ENST00000404032.3_Silent_p.L568L	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	613						integral to membrane	protein binding			kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TCCGCTATCTGAGAGAGCTGC	0.587000													55	105					0	0	1	0	0
DEGS2	123099	broad.mit.edu	37	14	100613236	100613236	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:100613236C>T	ENST00000553834.1	-	2	98	c.91G>A	c.(91-93)Gat>Aat	p.D31N	DEGS2_ENST00000305631.5_Silent_p.K278K			Q6QHC5	DEGS2_HUMAN	delta(4)-desaturase, sphingolipid 2	31					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	sphingosine hydroxylase activity			breast(1)|lung(6)|skin(1)	8		Melanoma(154;0.212)				CGGGCGCGATCTTCCGCACCT	0.662000													44	64					0	0	1	0	0
PVRL4	81607	broad.mit.edu	37	1	161042633	161042633	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:161042633C>T	ENST00000368012.3	-	9	1653	c.1351G>A	c.(1351-1353)Gtg>Atg	p.V451M	PVRL4_ENST00000486694.1_5'UTR|PVRL4_ENST00000453926.2_Missense_Mutation_p.V160M	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	451					adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			ATCTCCCTCACCGTGGTCAGC	0.582000													18	21					0	0	1	0	0
TAX1BP1	8887	broad.mit.edu	37	7	27868343	27868343	+	Silent	SNP	G	G	A	rs77750724		TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:27868343G>A	ENST00000396319.2	+	17	2353	c.2265G>A	c.(2263-2265)aaG>aaA	p.K755K	TAX1BP1_ENST00000433216.2_Silent_p.K556K|TAX1BP1_ENST00000543117.1_Silent_p.K713K|TAX1BP1_ENST00000409980.1_Silent_p.K779K|TAX1BP1_ENST00000488564.1_3'UTR|TAX1BP1_ENST00000265393.6_Silent_p.K713K	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	755					anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			GTCACTGGAAGGTGTGCCCGA	0.433000													48	79					0	0	1	0	0
FCRLA	84824	broad.mit.edu	37	1	161683033	161683033	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:161683033C>T	ENST00000540926.1	+	6	1254	c.961C>T	c.(961-963)Cct>Tct	p.P321S	FCRLA_ENST00000546024.1_Missense_Mutation_p.P243S|FCRLA_ENST00000540521.1_Missense_Mutation_p.P198S|FCRLA_ENST00000367949.2_Missense_Mutation_p.P148S|FCRLA_ENST00000367950.1_Missense_Mutation_p.P108S|FCRLA_ENST00000367953.3_Missense_Mutation_p.P321S|FCRLA_ENST00000367957.2_Missense_Mutation_p.P192S|FCRLA_ENST00000367959.2_Missense_Mutation_p.P338S|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000350710.3_Missense_Mutation_p.P97S|FCRLA_ENST00000349527.4_Missense_Mutation_p.P220S|FCRLA_ENST00000309691.6_Missense_Mutation_p.P226S|FCRLA_ENST00000236938.6_Missense_Mutation_p.P332S|FCRLA_ENST00000294796.4_Missense_Mutation_p.P181S			Q7L513	FCRLA_HUMAN	Fc receptor-like A	315					cell differentiation	cytoplasm|extracellular region				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			GATGCCAGATCCTCATCTGTA	0.567000													33	82					0	0	1	0	0
TSPAN12	23554	broad.mit.edu	37	7	120428784	120428784	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:120428784C>T	ENST00000222747.3	-	8	1387	c.780G>A	c.(778-780)atG>atA	p.M260I	TSPAN12_ENST00000415871.1_Missense_Mutation_p.M260I	NM_012338.3	NP_036470.1	O95859	TSN12_HUMAN	tetraspanin 12	260					angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation	integral to plasma membrane|membrane fraction				endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1)	10	all_neural(327;0.117)					TCAAGGACATCATTTGGTCTG	0.468000													54	76					0	0	1	0	0
PDE6C	5146	broad.mit.edu	37	10	95385332	95385332	+	Splice_Site	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr10:95385332G>A	ENST00000371447.3	+	5	1003	c.864_splice	c.e5-1	p.E289_splice		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	289	GAF 2.				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				TTGCCTCCAGGAATTCTACGA	0.378000													22	7					0	0	1	0	0
TMC7	79905	broad.mit.edu	37	16	19020728	19020728	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr16:19020728G>A	ENST00000304381.5	+	2	432	c.302G>A	c.(301-303)cGg>cAg	p.R101Q	TMC7_ENST00000569532.1_Missense_Mutation_p.R101Q|TMC7_ENST00000421369.3_5'UTR	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	101						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						TCTGAGAAGCGGAGACTAAGG	0.473000													54	19					0	0	1	0	0
PPM1L	151742	broad.mit.edu	37	3	160786795	160786795	+	Missense_Mutation	SNP	A	A	C			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:160786795A>C	ENST00000498165.1	+	4	1034	c.933A>C	c.(931-933)gaA>gaC	p.E311D	PPM1L_ENST00000295839.9_Missense_Mutation_p.E184D|PPM1L_ENST00000464260.1_Missense_Mutation_p.E132D|PPM1L_ENST00000480117.1_3'UTR	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L	311	PP2C-like.				protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			TCAGCAATGAAGAAGCAGTTC	0.473000													32	64					0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19451749	19451749	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr16:19451749G>A	ENST00000396229.2	+	3	1138	c.389G>A	c.(388-390)gGa>gAa	p.G130E	TMC5_ENST00000381414.4_Missense_Mutation_p.G130E|TMC5_ENST00000541464.1_Missense_Mutation_p.G130E|TMC5_ENST00000542583.2_Missense_Mutation_p.G130E	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	130						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GACTACCCTGGATCTCAACGA	0.493000													185	74					0	0	1	0	0
PIGU	128869	broad.mit.edu	37	20	33173355	33173355	+	Missense_Mutation	SNP	A	A	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr20:33173355A>T	ENST00000374820.2	-	8	772	c.752T>A	c.(751-753)aTt>aAt	p.I251N	PIGU_ENST00000452740.2_Missense_Mutation_p.I271N|PIGU_ENST00000480175.1_Intron			Q9H490	PIGU_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class U	271					attachment of GPI anchor to protein|C-terminal protein lipidation|regulation of JAK-STAT cascade	GPI-anchor transamidase complex|plasma membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	9						GAAAAGACCAATGTTTGGAGT	0.378000													83	125					0	0	1	0	0
ANXA3	306	broad.mit.edu	37	4	79518495	79518495	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr4:79518495C>T	ENST00000264908.6	+	10	1036	c.657C>T	c.(655-657)atC>atT	p.I219I	ANXA3_ENST00000512884.1_Silent_p.I180I|ANXA3_ENST00000503570.2_Silent_p.I180I	NM_005139.2	NP_005130.1	P12429	ANXA3_HUMAN	annexin A3	219			I -> N (in dbSNP:rs5948).		defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity	phagocytic vesicle membrane|plasma membrane|specific granule	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						ACAGAAATATCAGCCAAAAGG	0.338000													18	57					0	0	1	0	0
CD1A	909	broad.mit.edu	37	1	158227228	158227228	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:158227228G>A	ENST00000289429.5	+	5	1434	c.901G>A	c.(901-903)Ggc>Agc	p.G301S		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	301					antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	CAGTTCCGTGGGCTTCATCAT	0.468000													93	133					0	0	1	0	0
CPA4	51200	broad.mit.edu	37	7	129951877	129951877	+	Splice_Site	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:129951877G>A	ENST00000222482.4	+	10	1021		c.e10-1		CPA4_ENST00000493259.1_Splice_Site|CPA4_ENST00000445470.2_Splice_Site	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4						histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					CCCCTTCCCAGGACAAGGTGG	0.562000													11	32					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37026489	37026489	+	Silent	SNP	G	G	A	rs146333223		TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chrX:37026489G>A	ENST00000358047.3	+	1	58	c.6G>A	c.(4-6)ggG>ggA	p.G2G		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	2										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCACCATGGGGGACCAGAGGC	0.662000													8	3					0	0	1	0	0
LRP3	4037	broad.mit.edu	37	19	33696367	33696367	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:33696367G>A	ENST00000253193.7	+	5	893	c.691G>A	c.(691-693)Gag>Aag	p.E231K		NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	231	LDL-receptor class A 2.				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					CCTGCCTGTGGAGCGGCGCTG	0.761000													11	17					0	0	1	0	0
POLR1A	25885	broad.mit.edu	37	2	86310221	86310221	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:86310221G>A	ENST00000263857.6	-	7	1179	c.801C>T	c.(799-801)gcC>gcT	p.A267A	POLR1A_ENST00000409681.1_Silent_p.A267A			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	267					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						TCTTCCACAGGGCAGAAAGGT	0.453000													24	35					0	0	1	0	0
IPO7	10527	broad.mit.edu	37	11	9450702	9450702	+	Missense_Mutation	SNP	C	C	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:9450702C>A	ENST00000379719.3	+	14	1692	c.1550C>A	c.(1549-1551)gCt>gAt	p.A517D		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	517					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		AAAGTGGAAGCTGCCATTGCC	0.408000													42	64					6.45866e-13	6.59743e-13	1	1	0
CD109	135228	broad.mit.edu	37	6	74528124	74528124	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr6:74528124G>A	ENST00000437994.2	+	31	4305	c.3874G>A	c.(3874-3876)Ggt>Agt	p.G1292S	CD109_ENST00000422508.2_Missense_Mutation_p.G1232S|CD109_ENST00000287097.5_Missense_Mutation_p.G1309S	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	1309						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTCGGGCCCGGGTAGGAGTGG	0.413000													21	63					0	0	1	0	0
ITGA6	3655	broad.mit.edu	37	2	173352513	173352513	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:173352513G>A	ENST00000375221.2	+	18	2622	c.2419G>A	c.(2419-2421)Gat>Aat	p.D807N	ITGA6_ENST00000343713.4_Missense_Mutation_p.D763N|ITGA6_ENST00000264107.7_Missense_Mutation_p.D768N|AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000409080.1_Missense_Mutation_p.D768N|ITGA6_ENST00000409532.1_Missense_Mutation_p.D649N|ITGA6_ENST00000264106.6_Missense_Mutation_p.D807N			P23229	ITA6_HUMAN	integrin, alpha 6	807					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			CCCAGATCTGGATATTAATCT	0.363000													26	45					0	0	1	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159820325	159820325	+	RNA	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:159820325C>T	ENST00000497452.1	-	0	517																											AGCACCAGACCCCCTCCCAAC	0.458000													24	39					0	0	1	0	0
NDRG2	57447	broad.mit.edu	37	14	21490272	21490272	+	Missense_Mutation	SNP	A	A	G			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:21490272A>G	ENST00000556147.1	-	5	1233	c.293T>C	c.(292-294)gTt>gCt	p.V98A	NDRG2_ENST00000298687.5_Missense_Mutation_p.V98A|NDRG2_ENST00000554143.1_Missense_Mutation_p.V84A|NDRG2_ENST00000397856.3_Missense_Mutation_p.V84A|NDRG2_ENST00000350792.3_Missense_Mutation_p.V84A|NDRG2_ENST00000397851.2_Missense_Mutation_p.V98A|NDRG2_ENST00000397855.3_Missense_Mutation_p.V84A|NDRG2_ENST00000555158.1_Missense_Mutation_p.V84A|NDRG2_ENST00000298684.5_Missense_Mutation_p.V84A|NDRG2_ENST00000553503.1_Missense_Mutation_p.V84A|NDRG2_ENST00000360463.3_Missense_Mutation_p.V84A|NDRG2_ENST00000397858.1_Missense_Mutation_p.V98A|NDRG2_ENST00000403829.3_Missense_Mutation_p.V94A|NDRG2_ENST00000397844.2_Missense_Mutation_p.V84A|NDRG2_ENST00000397853.3_Missense_Mutation_p.V98A|NDRG2_ENST00000554104.1_Missense_Mutation_p.V11A|NDRG2_ENST00000397847.2_Missense_Mutation_p.V98A			Q9UN36	NDRG2_HUMAN	NDRG family member 2	98					cell differentiation|nervous system development	centrosome|cytosol|Golgi apparatus|nucleus|perinuclear region of cytoplasm				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		ATCCACATGAACCCGCACAAA	0.488000													38	62					0	0	1	0	0
AADACL2-AS1	101928142	broad.mit.edu	37	3	151502041	151502041	+	RNA	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:151502041C>T	ENST00000483843.2	-	0	439				RP11-454C18.2_ENST00000475855.1_RNA|RP11-64D22.2_ENST00000483636.1_RNA																							AATATGACATCTTAAGAGATG	0.443000													10	3					0	0	1	0	0
IGHV2-70	28454	broad.mit.edu	37	14	107179246	107179246	+	RNA	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:107179246G>A	ENST00000390634.2	-	0	92																											CAGGAGCGTGGAACAAAGTAT	0.517000													14	30					0	0	1	0	0
SLC23A1	9963	broad.mit.edu	37	5	138713172	138713172	+	Missense_Mutation	SNP	C	C	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:138713172C>A	ENST00000353963.3	-	13	1518	c.1480G>T	c.(1480-1482)Gat>Tat	p.D494Y	SLC23A1_ENST00000348729.3_Missense_Mutation_p.D490Y	NM_152685.3	NP_689898.2	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 1	490					brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process	apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction	dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	AGAATCTGATCCACTTCAAGA	0.527000													17	27					3.52763e-06	3.56513e-06	1	1	0
TMEM214	54867	broad.mit.edu	37	2	27263261	27263261	+	Silent	SNP	A	A	C			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:27263261A>C	ENST00000238788.9	+	16	1902	c.1840A>C	c.(1840-1842)Aga>Cga	p.R614R	TMEM214_ENST00000404032.3_Silent_p.R569R	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	614						integral to membrane	protein binding			kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						CCGCTATCTGAGAGAGCTGCC	0.587000													56	103					0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518083	113518083	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:113518083C>T	ENST00000284601.3	-	4	3132	c.3064G>A	c.(3064-3066)Gaa>Aaa	p.E1022K		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	1022					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CTTGCTTCTTCCATATTCTCA	0.388000													77	91					0	0	1	0	0
HMP19	51617	broad.mit.edu	37	5	173531263	173531263	+	Silent	SNP	C	C	T	rs148432334		TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:173531263C>T	ENST00000303177.3	+	4	508	c.246C>T	c.(244-246)ttC>ttT	p.F82F	NSG2_ENST00000521585.1_Intron|NSG2_ENST00000521959.1_3'UTR	NM_015980.4	NP_057064.1																					CCCTAGCTTTCCTTGCGTGCA	0.512000													35	42					0	0	1	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64593991	64593991	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:64593991G>A	ENST00000342711.5	-	36	4549	c.4550C>T	c.(4549-4551)tCt>tTt	p.S1517F		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	1517					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						GCAGGACACAGACTCGCTGGA	0.572000													9	11					0	0	1	0	0
KDM6B	23135	broad.mit.edu	37	17	7749463	7749463	+	Missense_Mutation	SNP	C	C	T	rs145085233		TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:7749463C>T	ENST00000254846.5	+	6	693	c.304C>T	c.(304-306)Cgg>Tgg	p.R102W	KDM6B_ENST00000448097.2_Missense_Mutation_p.R102W	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	102					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						GGCATTGCTCCGGGAGCCAGC	0.637000													12	26					0	0	1	0	0
OGFRL1	79627	broad.mit.edu	37	6	72011712	72011712	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr6:72011712C>T	ENST00000370435.4	+	7	1450	c.1316C>T	c.(1315-1317)cCt>cTt	p.P439L	RP3-331H24.5_ENST00000602823.1_lincRNA|RP11-154D6.1_ENST00000586030.1_RNA|RP11-154D6.1_ENST00000412751.1_RNA|RP11-154D6.1_ENST00000432050.1_RNA|RP11-154D6.1_ENST00000423255.1_RNA|RP11-154D6.1_ENST00000588612.1_RNA|RP11-154D6.1_ENST00000586232.1_RNA|RP11-154D6.1_ENST00000591156.1_RNA|RP11-154D6.1_ENST00000587253.1_RNA	NM_024576.3	NP_078852.3	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	439						membrane	receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						AATGAAAATCCTGGAAATACA	0.368000													58	104					0	0	1	0	0
SH2B2	10603	broad.mit.edu	37	7	101952183	101952183	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:101952183C>T	ENST00000536178.1	+	4	1092	c.1047C>T	c.(1045-1047)gaC>gaT	p.D349D	SH2B2_ENST00000306803.8_Silent_p.D306D			O14492	SH2B2_HUMAN	SH2B adaptor protein 2	306					blood coagulation|insulin receptor signaling pathway|intracellular signal transduction	cytosol|plasma membrane	JAK pathway signal transduction adaptor activity|SH3/SH2 adaptor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	9						GCTGCGTGGACCCCGGGTGAG	0.597000													67	142					0	0	1	0	0
DCLRE1B	64858	broad.mit.edu	37	1	114454806	114454806	+	Missense_Mutation	SNP	C	C	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:114454806C>A	ENST00000369563.3	+	4	2038	c.1592C>A	c.(1591-1593)cCc>cAc	p.P531H	DCLRE1B_ENST00000466480.1_3'UTR	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	531					cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACCATAAACCCTGCTGAAGA	0.448000								Other identified genes with known or suspected DNA repair function					37	51					6.02501e-08	6.1107e-08	1	1	0
SLC13A5	284111	broad.mit.edu	37	17	6596477	6596477	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:6596477C>T	ENST00000433363.2	-	9	1394	c.1161G>A	c.(1159-1161)agG>agA	p.R387R	SLC13A5_ENST00000573648.1_Silent_p.R387R|SLC13A5_ENST00000381074.4_Silent_p.R344R|SLC13A5_ENST00000293800.6_Silent_p.R370R	NM_177550.3	NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	387						integral to membrane	citrate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						ATGGAGTTTTCCTTTCTGGGA	0.498000													9	24					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144996418	144996418	+	Missense_Mutation	SNP	A	A	C			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr8:144996418A>C	ENST00000322810.4	-	32	8151	c.7982T>G	c.(7981-7983)gTg>gGg	p.V2661G	PLEC_ENST00000345136.3_Missense_Mutation_p.V2524G|PLEC_ENST00000354589.3_Missense_Mutation_p.V2524G|PLEC_ENST00000398774.2_Missense_Mutation_p.V2492G|PLEC_ENST00000527096.1_Missense_Mutation_p.V2547G|PLEC_ENST00000354958.2_Missense_Mutation_p.V2502G|PLEC_ENST00000357649.2_Missense_Mutation_p.V2528G|PLEC_ENST00000356346.3_Missense_Mutation_p.V2510G|PLEC_ENST00000436759.2_Missense_Mutation_p.V2551G	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2661	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGCCTTGGCCACCTCGTCCTG	0.647000													6	7					0	0	1	0	0
ANAPC1	64682	broad.mit.edu	37	2	112541914	112541914	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:112541914G>A	ENST00000341068.3	-	41	5753	c.4981C>T	c.(4981-4983)Cat>Tat	p.H1661Y		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	1661					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						TTTAAAAGATGGAGTTCTGGA	0.438000													22	40					0	0	1	0	0
ACAD10	80724	broad.mit.edu	37	12	112187079	112187079	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:112187079C>T	ENST00000455480.2	+	19	3017	c.2840C>T	c.(2839-2841)cCc>cTc	p.P947L	ACAD10_ENST00000313698.4_Missense_Mutation_p.P916L	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	916							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						AGACTGGGCCCCGGCAGGATC	0.632000													63	21					0	0	1	0	0
KANSL3	55683	broad.mit.edu	37	2	97270005	97270005	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:97270005G>A	ENST00000599854.1	-	17	2337	c.1870C>T	c.(1870-1872)Cct>Tct	p.P624S	KANSL3_ENST00000440133.1_Missense_Mutation_p.P531S|KANSL3_ENST00000441706.2_Intron|KANSL3_ENST00000431828.1_Missense_Mutation_p.P711S|KANSL3_ENST00000487070.1_5'UTR	NM_001115016.2	NP_001108488.1	Q9P2N6	K1310_HUMAN	KAT8 regulatory NSL complex subunit 3	737																	GAGCTGCCAGGAGATGTGGCC	0.592000													14	19					0	0	1	0	0
GDF10	2662	broad.mit.edu	37	10	48429461	48429461	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr10:48429461C>T	ENST00000224605.2	-	2	690	c.425G>A	c.(424-426)tGg>tAg	p.W142*		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	142					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						CGCTCGAGGCCACCGAGGCGG	0.627000													23	34					0	0	1	0	0
TRIM49C	642612	broad.mit.edu	37	11	89774252	89774252	+	Missense_Mutation	SNP	G	G	A	rs145791878	by1000genomes	TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:89774252G>A	ENST00000448984.1	+	8	1222	c.893G>A	c.(892-894)aGt>aAt	p.S298N	TRIM49C_ENST00000432771.1_Intron	NM_001195234.1	NP_001182163.1	P0CI26	T49L2_HUMAN	tripartite motif containing 49C	298	B30.2/SPRY.					intracellular	zinc ion binding	p.S298N(4)		endometrium(3)|kidney(1)|lung(4)	8						GAAGCCAACAGTGATATCTTT	0.323000													3	21					0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11595677	11595677	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:11595677G>A	ENST00000304391.6	+	4	569	c.451G>A	c.(451-453)Gaa>Aaa	p.E151K	PTCHD2_ENST00000389575.3_Silent_p.E1264E|PTCHD2_ENST00000294484.6_Silent_p.E1264E			Q9P2K9	PTHD2_HUMAN	patched domain containing 2	33					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	p.E1481E(1)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		TGGCTGGAGAGAACCTGCCCC	0.657000													32	18					0	0	1	0	0
SERPINA7	6906	broad.mit.edu	37	X	105280471	105280471	+	Missense_Mutation	SNP	C	C	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chrX:105280471C>A	ENST00000327674.4	-	1	914	c.579G>T	c.(577-579)aaG>aaT	p.K193N	SERPINA7_ENST00000372563.1_Missense_Mutation_p.K193N			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	193					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	TGGTGTTTGGCTTGAGGTCTT	0.428000													4	111					1	1	1	1	0
SPNS1	83985	broad.mit.edu	37	16	28986625	28986625	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr16:28986625C>T	ENST00000311008.11	+	1	530	c.153C>T	c.(151-153)acC>acT	p.T51T	SPNS1_ENST00000334536.8_Silent_p.T51T|SPNS1_ENST00000565975.1_Silent_p.T96T|SPNS1_ENST00000323081.8_5'UTR|RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000352260.7_Silent_p.T51T|RP11-264B17.4_ENST00000567209.1_RNA	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	51					lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						AGCGCATCACCGGCCTGTCTC	0.667000													4	4					0	0	1	0	0
PDE2A	5138	broad.mit.edu	37	11	72299936	72299936	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:72299936C>T	ENST00000334456.5	-	13	1207	c.962G>A	c.(961-963)aGc>aAc	p.S321N	PDE2A_ENST00000376450.3_Intron|PDE2A_ENST00000544570.1_Missense_Mutation_p.S314N|PDE2A_ENST00000418754.2_Missense_Mutation_p.S206N|PDE2A_ENST00000444035.2_Missense_Mutation_p.S312N|PDE2A_ENST00000540345.1_Missense_Mutation_p.S312N	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	321	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	GCCCAACATGCTCTGCAGCTG	0.597000													19	40					0	0	1	0	0
IGHA1	3493	broad.mit.edu	37	14	106174163	106174163	+	RNA	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:106174163G>A	ENST00000390547.2	-	0	625																											CTTGGACTCGGGGTAGGCAGC	0.612000													23	67					0	0	1	0	0
RARA	5914	broad.mit.edu	37	17	38512373	38512373	+	Silent	SNP	G	G	C			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:38512373G>C	ENST00000254066.5	+	9	1739	c.1284G>C	c.(1282-1284)ggG>ggC	p.G428G	RARA_ENST00000394081.3_Silent_p.G423G|RARA_ENST00000420042.1_3'UTR|RARA_ENST00000394089.2_Silent_p.G428G|RARA_ENST00000394086.3_Silent_p.G444G|RARA_ENST00000425707.3_Silent_p.G331G	NM_000964.3	NP_000955.1	P10276	RARA_HUMAN	retinoic acid receptor, alpha	428					apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	cytoplasm|nucleoplasm	chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	GACAGCCGGGGGGTGGGGGGC	0.687000			T	"""PML, ZNF145, TIF1, NUMA1, NPM1"""	APL								12	4					0	0	1	0	0
SNX29P2	440352	broad.mit.edu	37	16	29370523	29370523	+	RNA	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr16:29370523C>T	ENST00000398878.3	+	0	1115				SNX29P2_ENST00000507381.1_RNA																							AATGGAATTTCCTGGTTAATG	0.438000													3	5					0	0	1	0	0
POLR2H	5437	broad.mit.edu	37	3	184085980	184085980	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:184085980C>T	ENST00000456318.1	+	6	1400	c.351C>T	c.(349-351)tcC>tcT	p.S117S	EIF2B5_ENST00000444495.1_Intron|POLR2H_ENST00000429568.1_Silent_p.L139L|POLR2H_ENST00000452961.1_Silent_p.S81S|POLR2H_ENST00000438240.1_Silent_p.S81S|POLR2H_ENST00000443489.1_Silent_p.S53S|POLR2H_ENST00000430783.1_Silent_p.S89S|POLR2H_ENST00000296223.3_Silent_p.S117S	NM_001278699.1	NP_001265628.1	P52434	RPAB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide H	117					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex|nucleolus	DNA-directed RNA polymerase activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CGTACGTGTCCTATGGGGGCC	0.542000													44	54					0	0	1	0	0
PON2	5445	broad.mit.edu	37	7	95039345	95039345	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:95039345G>A	ENST00000536183.1	-	6	809	c.626C>T	c.(625-627)cCt>cTt	p.P209L	PON2_ENST00000433091.2_Missense_Mutation_p.P176L|PON2_ENST00000222572.3_Missense_Mutation_p.P188L|PON2_ENST00000483292.1_5'UTR	NM_000305.2	NP_000296.2	Q15165	PON2_HUMAN	paraoxonase 2	188					aromatic compound catabolic process	extracellular region|plasma membrane	arylesterase activity|identical protein binding|metal ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		STAD - Stomach adenocarcinoma(171;0.0151)			CTTTAAGAAAGGATCAGAGAA	0.373000													38	55					0	0	1	0	0
ARHGEF28	64283	broad.mit.edu	37	5	73076500	73076500	+	Splice_Site	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:73076500G>A	ENST00000545377.1	+	7	1016		c.e7-1		ARHGEF28_ENST00000513042.2_Splice_Site|CTC-575I10.1_ENST00000506717.1_RNA|ARHGEF28_ENST00000426542.2_Splice_Site|ARHGEF28_ENST00000296794.6_Splice_Site|ARHGEF28_ENST00000287898.5_Splice_Site|ARHGEF28_ENST00000437974.1_Splice_Site	NM_001080479.2	NP_001073948.2			Rho guanine nucleotide exchange factor (GEF) 28																		TTGTTTCCTAGGCCTTTGAGC	0.448000													3	4					0	0	1	0	0
BOC	91653	broad.mit.edu	37	3	112969645	112969645	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:112969645C>T	ENST00000495514.1	+	4	1045	c.341C>T	c.(340-342)gCt>gTt	p.A114V	BOC_ENST00000485230.1_Missense_Mutation_p.A114V|BOC_ENST00000273395.4_Missense_Mutation_p.A114V|BOC_ENST00000484034.1_Missense_Mutation_p.A114V|BOC_ENST00000355385.3_Missense_Mutation_p.A114V			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	114	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)			CCTGCGGGGGCTGTGGCCAGC	0.637000													27	31					0	0	1	0	0
APBA1	320	broad.mit.edu	37	9	72131219	72131219	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr9:72131219G>A	ENST00000265381.4	-	2	1130	c.908C>T	c.(907-909)cCc>cTc	p.P303L		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	303	Munc-18-1 binding.|Pro-rich.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						cggggTAGGGGGACGCTCCAG	0.756000													4	1					0	0	1	0	0
RRP12	23223	broad.mit.edu	37	10	99126639	99126639	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr10:99126639G>A	ENST00000370992.4	-	27	3186	c.3075C>T	c.(3073-3075)ccC>ccT	p.P1025P	RRP12_ENST00000315563.6_Silent_p.P925P|RRP12_ENST00000414986.1_Silent_p.P964P|RRP12_ENST00000536831.1_Silent_p.P743P|RRP12_ENST00000479481.1_5'UTR	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	1025						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		GGTACTCCTCGGGCAACAGCC	0.612000													129	53					0	0	1	0	0
PPIP5K1	9677	broad.mit.edu	37	15	43851128	43851128	+	Missense_Mutation	SNP	A	A	C			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr15:43851128A>C	ENST00000420765.1	-	29	3432	c.3250T>G	c.(3250-3252)Ttt>Gtt	p.F1084V	PPIP5K1_ENST00000334933.4_Missense_Mutation_p.F1059V|PPIP5K1_ENST00000360301.4_Missense_Mutation_p.F1059V|PPIP5K1_ENST00000360135.4_Missense_Mutation_p.F1017V|PPIP5K1_ENST00000348806.6_Missense_Mutation_p.F1017V|PPIP5K1_ENST00000396923.3_Missense_Mutation_p.F1084V|PPIP5K1_ENST00000381885.1_Missense_Mutation_p.F1080V|PPIP5K1_ENST00000381879.4_Missense_Mutation_p.F1060V	NM_001130858.2	NP_001124330.1	Q6PFW1	VIP1_HUMAN	diphosphoinositol pentakisphosphate kinase 1	1084					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			large_intestine(1)	1						CACCCTTCAAACCCTGTTTGA	0.493000													42	19					0	0	1	0	0
CCDC77	84318	broad.mit.edu	37	12	542364	542364	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:542364G>A	ENST00000239830.4	+	9	876	c.697G>A	c.(697-699)Gga>Aga	p.G233R	CCDC77_ENST00000412006.2_Missense_Mutation_p.G201R|CCDC77_ENST00000540344.1_3'UTR|CCDC77_ENST00000422000.1_Missense_Mutation_p.G201R|CCDC77_ENST00000540180.1_Missense_Mutation_p.G201R	NM_032358.3	NP_115734.1	Q9BR77	CCD77_HUMAN	coiled-coil domain containing 77	233						centrosome		p.L232_G233insGR(2)		cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			GGCTCAGCTGGGAGAGCAGAC	0.483000													64	101					0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25284645	25284645	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr13:25284645C>T	ENST00000218548.6	+	20	3162	c.2829C>T	c.(2827-2829)ttC>ttT	p.F943F	ATP12A_ENST00000381946.3_Silent_p.F937F	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	937					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	ACACGGCTTtctttgttggca	0.493000													51	92					0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31599966	31599966	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:31599966G>A	ENST00000379416.3	-	14	1428	c.1380C>T	c.(1378-1380)gcC>gcT	p.A460A		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	460					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TGGTTCTGTTGGCCATTCCAC	0.478000													51	60					0	0	1	0	0
ZNF385B	151126	broad.mit.edu	37	2	180348047	180348047	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:180348047G>A	ENST00000410066.1	-	6	1225	c.622C>T	c.(622-624)Ccc>Tcc	p.P208S	ZNF385B_ENST00000409692.1_Missense_Mutation_p.P106S|ZNF385B_ENST00000409343.1_Missense_Mutation_p.P132S|ZNF385B_ENST00000336917.5_Missense_Mutation_p.P106S|ZNF385B_ENST00000466398.1_5'UTR	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	208						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			GAGCAGCTGGGATTAGCCTTT	0.438000													33	38					0	0	1	0	0
VWC2	375567	broad.mit.edu	37	7	49842382	49842382	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:49842382G>A	ENST00000340652.3	+	3	1328	c.772G>A	c.(772-774)Gag>Aag	p.E258K		NM_198570.3	NP_940972.2	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2	258	VWFC 2.				negative regulation of BMP signaling pathway|positive regulation of neuron differentiation	basement membrane|extracellular space				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						TCCCCAGACGGAGTGTGTGGA	0.567000													41	59					0	0	1	0	0
MTMR1	8776	broad.mit.edu	37	X	149931115	149931115	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chrX:149931115G>A	ENST00000445323.2	+	16	2056	c.1935G>A	c.(1933-1935)cgG>cgA	p.R645R	MTMR1_ENST00000538506.1_Intron|MTMR1_ENST00000370390.3_Silent_p.R637R|MTMR1_ENST00000544228.1_Silent_p.R637R|MTMR1_ENST00000541925.1_Silent_p.R543R			Q13613	MTMR1_HUMAN	myotubularin related protein 1	637	Poly-Ser.					plasma membrane	protein tyrosine phosphatase activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GCCTACAGCGGGAGGTGGCCA	0.657000													53	26					0	0	1	0	0
AIM2	9447	broad.mit.edu	37	1	159033452	159033452	+	Missense_Mutation	SNP	T	T	C			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:159033452T>C	ENST00000368130.4	-	5	1117	c.829A>G	c.(829-831)Aag>Gag	p.K277E	AIM2_ENST00000481829.1_5'UTR	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	277	HIN-200.				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus				breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					ATGTTTTTCTTCTTTTCTGTT	0.398000													42	59					0	0	1	0	0
IGHV4-34	28395	broad.mit.edu	37	14	106829597	106829597	+	RNA	SNP	C	C	G			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:106829597C>G	ENST00000390616.2	-	0	396																											CTGTGCCTCTCGCACAGTAAT	0.587000													98	185					0	0	1	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73076546	73076546	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:73076546C>T	ENST00000263674.3	+	19	6012	c.5662C>T	c.(5662-5664)Cca>Tca	p.P1888S		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1888					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						TCTCTACCATCCAGACACCTT	0.577000													19	43					0	0	1	0	0
MERTK	10461	broad.mit.edu	37	2	112777075	112777075	+	Missense_Mutation	SNP	G	G	A	rs147779020	by1000genomes	TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:112777075G>A	ENST00000295408.4	+	16	2422	c.2165G>A	c.(2164-2166)cGa>cAa	p.R722Q	MERTK_ENST00000421804.2_Missense_Mutation_p.R722Q|MERTK_ENST00000409780.1_Missense_Mutation_p.R546Q			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	722	Protein kinase.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						TTTCTTCATCGAGATTTAGCT	0.463000													67	91					0	0	1	0	0
ZNF652	22834	broad.mit.edu	37	17	47394691	47394691	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:47394691C>T	ENST00000362063.2	-	2	715	c.397G>A	c.(397-399)Ggg>Agg	p.G133R	ZNF652_ENST00000430262.2_Missense_Mutation_p.G133R	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	133	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			CCCTTTTCCCCTTTAGATACA	0.433000													51	92					0	0	1	0	0
MFSD7	84179	broad.mit.edu	37	4	676658	676658	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr4:676658G>A	ENST00000322224.4	-	9	1486	c.1173C>T	c.(1171-1173)atC>atT	p.I391I	MFSD7_ENST00000404286.2_Silent_p.I392I|MFSD7_ENST00000515118.1_Silent_p.I295I|MFSD7_ENST00000503156.1_Silent_p.I327I|MFSD7_ENST00000347950.5_Silent_p.I273I			Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing 7	392					transmembrane transport	integral to membrane				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						TTGCCAGCATGATGAGTATTC	0.632000													12	9					0	0	1	0	0
ZNF627	199692	broad.mit.edu	37	19	11727605	11727605	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:11727605C>T	ENST00000361113.5	+	4	495	c.287C>T	c.(286-288)cCt>cTt	p.P96L	ZNF627_ENST00000588174.1_3'UTR	NM_145295.3	NP_660338.1	Q7L945	ZN627_HUMAN	zinc finger protein 627	96					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						AAGAAAACTCCTGGAGTAAAA	0.438000													6	139					0	0	1	0	0
ACSL6	23305	broad.mit.edu	37	5	131308459	131308459	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:131308459C>T	ENST00000379264.2	-	13	1404	c.1296G>A	c.(1294-1296)agG>agA	p.R432R	ACSL6_ENST00000357096.1_Silent_p.R332R|ACSL6_ENST00000379255.1_Silent_p.R332R|ACSL6_ENST00000379249.3_Silent_p.R407R|ACSL6_ENST00000379246.1_Silent_p.R418R|ACSL6_ENST00000379272.2_Silent_p.R422R|ACSL6_ENST00000544770.1_Silent_p.R316R|ACSL6_ENST00000543479.1_Silent_p.R407R|ACSL6_ENST00000379240.1_Silent_p.R407R|ACSL6_ENST00000431707.1_Silent_p.R387R|ACSL6_ENST00000296869.4_Silent_p.R432R|ACSL6_ENST00000379244.1_Silent_p.R407R	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	407					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TACTATCATTCCTGATGATTC	0.448000													31	88					0	0	1	0	0
PAPL	390928	broad.mit.edu	37	19	39589288	39589288	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:39589288G>A	ENST00000331256.5	+	3	586	c.312G>A	c.(310-312)ggG>ggA	p.G104G	PAPL_ENST00000594229.1_Silent_p.G104G	NM_001004318.2	NP_001004318.2	Q6ZNF0	PAPL_HUMAN		104						extracellular region	acid phosphatase activity|metal ion binding										TGCTGCCAGGGGTTCAGTATG	0.637000													13	36					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82434923	82434923	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:82434923C>T	ENST00000370728.1	+	17	3218	c.2573C>T	c.(2572-2574)tCc>tTc	p.S858F	LPHN2_ENST00000370723.1_Missense_Mutation_p.S845F|LPHN2_ENST00000370715.1_Missense_Mutation_p.S845F|LPHN2_ENST00000271029.4_Missense_Mutation_p.S858F|LPHN2_ENST00000335786.5_Missense_Mutation_p.S858F|LPHN2_ENST00000370725.1_Missense_Mutation_p.S858F|LPHN2_ENST00000359929.3_Missense_Mutation_p.S845F|LPHN2_ENST00000394879.1_Missense_Mutation_p.S845F|LPHN2_ENST00000370713.1_Missense_Mutation_p.S845F|LPHN2_ENST00000370730.1_Missense_Mutation_p.S858F|LPHN2_ENST00000319517.6_Missense_Mutation_p.S845F|LPHN2_ENST00000370717.2_Missense_Mutation_p.S858F|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370727.1_Missense_Mutation_p.S858F|LPHN2_ENST00000370721.1_Missense_Mutation_p.S783F			O95490	LPHN2_HUMAN	latrophilin 2	858					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		ATTGTCATTTCCCTTGTTTGC	0.398000													60	102					0	0	1	0	0
CHRNB2	1141	broad.mit.edu	37	1	154543971	154543971	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:154543971C>T	ENST00000368476.3	+	5	936	c.672C>T	c.(670-672)atC>atT	p.I224I		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	224					B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	ACGTGGACATCACGTATGACT	0.582000													47	84					0	0	1	0	0
OGFRL1	79627	broad.mit.edu	37	6	72011711	72011711	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr6:72011711C>T	ENST00000370435.4	+	7	1449	c.1315C>T	c.(1315-1317)Cct>Tct	p.P439S	RP3-331H24.5_ENST00000602823.1_lincRNA|RP11-154D6.1_ENST00000586030.1_RNA|RP11-154D6.1_ENST00000412751.1_RNA|RP11-154D6.1_ENST00000432050.1_RNA|RP11-154D6.1_ENST00000423255.1_RNA|RP11-154D6.1_ENST00000588612.1_RNA|RP11-154D6.1_ENST00000586232.1_RNA|RP11-154D6.1_ENST00000591156.1_RNA|RP11-154D6.1_ENST00000587253.1_RNA	NM_024576.3	NP_078852.3	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	439						membrane	receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						CAATGAAAATCCTGGAAATAC	0.368000													59	104					0	0	1	0	0
BNC1	646	broad.mit.edu	37	15	83933329	83933329	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr15:83933329C>T	ENST00000345382.2	-	4	759	c.674G>A	c.(673-675)gGa>gAa	p.G225E	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.G218E	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	225					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						GCTGGGGTTTCCTTTGTCCAC	0.498000													139	18					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179587037	179587037	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:179587037C>T	ENST00000589042.1	-	77	22701	c.22477G>A	c.(22477-22479)Gct>Act	p.A7493T	TTN_ENST00000591111.1_Missense_Mutation_p.A7176T|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.A6249T|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7176	Ig-like 57.						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)			GGGTTGGAAGCTGAGCAAGAG	0.403000													22	43					0	0	1	0	0
ODF4	146852	broad.mit.edu	37	17	8249104	8249104	+	Silent	SNP	G	G	A	rs138113934		TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:8249104G>A	ENST00000328248.2	+	3	896	c.708G>A	c.(706-708)acG>acA	p.T236T	ODF4_ENST00000584943.1_Silent_p.T121T	NM_153007.4	NP_694552.2	Q2M2E3	ODFP4_HUMAN	outer dense fiber of sperm tails 4	236					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)	8						GGGCACAGACGATCACAGACA	0.522000													49	62					0	0	1	0	0
FAM193A	8603	broad.mit.edu	37	4	2698150	2698150	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr4:2698150C>T	ENST00000324666.5	+	16	2815	c.2464C>T	c.(2464-2466)Ctg>Ttg	p.L822L	FAM193A_ENST00000382839.3_Silent_p.L822L|FAM193A_ENST00000502458.1_Silent_p.L844L|FAM193A_ENST00000545951.1_Silent_p.L822L|FAM193A_ENST00000505311.1_Silent_p.L822L	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	822										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						TCGCTTACGGCTGACCAAGAG	0.418000													18	54					0	0	1	0	0
OXGR1	27199	broad.mit.edu	37	13	97639852	97639852	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr13:97639852C>T	ENST00000298440.1	-	4	405	c.162G>A	c.(160-162)gtG>gtA	p.V54V	OXGR1_ENST00000543457.1_Silent_p.V54V	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	54						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			AAGTGGATATCACTACTGCAT	0.453000													22	46					0	0	1	0	0
INO80C	125476	broad.mit.edu	37	18	33077797	33077797	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr18:33077797G>A	ENST00000592173.1	-	1	100	c.42C>T	c.(40-42)ccC>ccT	p.P14P	INO80C_ENST00000590757.1_Silent_p.P14P|INO80C_ENST00000441607.2_Silent_p.P14P|RP11-322E11.6_ENST00000589258.1_Silent_p.P14P|INO80C_ENST00000334598.7_Silent_p.P14P			Q6PI98	IN80C_HUMAN	INO80 complex subunit C	14					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|MLL1 complex				central_nervous_system(1)|endometrium(1)|lung(3)|prostate(2)|skin(1)	8						GGACTATTCCGGGAGTGGAAG	0.607000													9	7					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10914379	10914379	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr21:10914379G>A	ENST00000298232.7	-	20	1653	c.1286C>T	c.(1285-1287)tCa>tTa	p.S429L	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.S409L|TPTE_ENST00000361285.4_Missense_Mutation_p.S447L	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	447	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTTTCCTAATGAAATAGTGGA	0.328000													13	25					0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160798371	160798371	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:160798371G>A	ENST00000283243.7	-	30	4516	c.4310C>T	c.(4309-4311)cCt>cTt	p.P1437L	PLA2R1_ENST00000460710.1_5'UTR	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	1437					endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						AGGATAGTAAGGATTCCGAAA	0.393000													24	32					0	0	1	0	0
AP1B1	162	broad.mit.edu	37	22	29745331	29745331	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr22:29745331G>A	ENST00000357586.2	-	11	1499	c.1313C>T	c.(1312-1314)tCc>tTc	p.S438F	AP1B1_ENST00000402502.1_Missense_Mutation_p.S438F|AP1B1_ENST00000317368.7_Missense_Mutation_p.S438F|AP1B1_ENST00000415447.1_Missense_Mutation_p.S438F|AP1B1_ENST00000356015.2_Missense_Mutation_p.S438F|AP1B1_ENST00000432560.2_Missense_Mutation_p.S438F|AP1B1_ENST00000405198.1_Missense_Mutation_p.S438F	NM_001127.3	NP_001118.3	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	438					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CTCATCCAGGGAGTCCAGATT	0.587000													47	64					0	0	1	0	0
XPC	7508	broad.mit.edu	37	3	14190064	14190064	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:14190064G>A	ENST00000285021.7	-	13	2632	c.2418C>T	c.(2416-2418)ccC>ccT	p.P806P	XPC_ENST00000449060.2_Silent_p.P769P	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	806	DNA-binding; preference for single stranded DNA; required for formation of stable nucleoprotein complex.				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCACGCACACGGGATGGGAGT	0.607000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				17	21					0	0	1	0	0
WISP1	8840	broad.mit.edu	37	8	134239782	134239782	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr8:134239782C>T	ENST00000250160.6	+	5	1039	c.933C>T	c.(931-933)atC>atT	p.I311I	WISP1_ENST00000517423.1_3'UTR|WISP1_ENST00000220856.6_Silent_p.I224I|WISP1_ENST00000377863.2_Silent_p.I139I|WISP1_ENST00000519433.1_Silent_p.I66I	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	311	CTCK.				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			GGTGCTGCATCCCCTACAAGT	0.522000													49	71					0	0	1	0	0
GMPS	8833	broad.mit.edu	37	3	155654153	155654153	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:155654153C>T	ENST00000496455.1	+	15	2169	c.1834C>T	c.(1834-1836)Ccg>Tcg	p.P612S	GMPS_ENST00000295920.7_Missense_Mutation_p.P513S	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	612					glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CAGCCAGATGCCGGTGATTTT	0.418000			T	MLL	AML								29	44					0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94650561	94650561	+	Missense_Mutation	SNP	T	T	C			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:94650561T>C	ENST00000260526.6	-	18	2158	c.1976A>G	c.(1975-1977)cAt>cGt	p.H659R	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	659					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		AAGTTTCTGATGACCACAAAT	0.333000													15	46					0	0	1	0	0
CHST12	55501	broad.mit.edu	37	7	2473485	2473485	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:2473485G>A	ENST00000258711.6	+	2	1346	c.1211G>A	c.(1210-1212)gGc>gAc	p.G404D		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	404					dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		GTTCTCTTCGGCTACCCCAAG	0.572000													56	78					0	0	1	0	0
PAN2	9924	broad.mit.edu	37	12	56712947	56712947	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:56712947G>A	ENST00000425394.2	-	24	3677	c.3301C>T	c.(3301-3303)Ctt>Ttt	p.L1101F	PAN2_ENST00000440411.3_Missense_Mutation_p.L1097F|PAN2_ENST00000257931.5_Missense_Mutation_p.L1100F|PAN2_ENST00000549090.1_Intron|PAN2_ENST00000548043.1_Missense_Mutation_p.L1101F	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	1101	Exonuclease.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						ACAGTGTCAAGGACTTGGTCC	0.498000													33	59					0	0	1	0	0
HFE2	148738	broad.mit.edu	37	1	145416847	145416847	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:145416847C>T	ENST00000336751.5	+	4	1430	c.1192C>T	c.(1192-1194)Ccc>Tcc	p.P398S	HFE2_ENST00000357836.5_Missense_Mutation_p.P285S|HFE2_ENST00000497365.1_Missense_Mutation_p.P172S|HFE2_ENST00000475797.1_Missense_Mutation_p.P172S	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	398					axon guidance	anchored to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCATCTCTTCCCCTCAGATGC	0.522000													39	71					0	0	1	0	0
DHX34	9704	broad.mit.edu	37	19	47856301	47856301	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:47856301G>A	ENST00000328771.4	+	2	363	c.14G>A	c.(13-15)aGa>aAa	p.R5K		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	5						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CCTCCTCCTAGAACAAGGGAG	0.532000													14	27					0	0	1	0	0
HMGCS2	3158	broad.mit.edu	37	1	120307135	120307135	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:120307135C>T	ENST00000369406.3	-	2	268	c.219G>A	c.(217-219)ctG>ctA	p.L73L	HMGCS2_ENST00000476640.1_5'UTR|HMGCS2_ENST00000544913.2_Silent_p.L73L	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	73					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		TATACTTCTCCAGGTCAGTTT	0.547000													43	55					0	0	1	0	0
RP11-467H10.2	0	broad.mit.edu	37	7	76681226	76681226	+	RNA	SNP	G	G	C			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:76681226G>C	ENST00000459742.1	+	0	58																											TGTCACACTTGAAGGAGGCAG	0.453000													3	7					0	0	1	0	0
CTAGE5	4253	broad.mit.edu	37	14	39787157	39787157	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:39787157C>T	ENST00000553728.1	+	21	3220	c.3007C>T	c.(3007-3009)Cgg>Tgg	p.R1003W	CTAGE5_ENST00000396165.4_Missense_Mutation_p.R439W|CTAGE5_ENST00000557038.1_Missense_Mutation_p.R388W|CTAGE5_ENST00000280083.3_Missense_Mutation_p.R468W|CTAGE5_ENST00000341502.5_Missense_Mutation_p.R468W|CTAGE5_ENST00000553352.1_Missense_Mutation_p.R439W|CTAGE5_ENST00000341749.3_Missense_Mutation_p.R456W|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.R439W|CTAGE5_ENST00000348007.3_Missense_Mutation_p.R468W|CTAGE5_ENST00000556148.1_Missense_Mutation_p.R393W|CTAGE5_ENST00000396158.2_Missense_Mutation_p.R473W																							GTTGGCAGCTCGGAATGCTGA	0.249000													24	40					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75055760	75055760	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:75055760C>T	ENST00000326665.5	-	12	1949	c.1731G>A	c.(1729-1731)atG>atA	p.M577I	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.M380I	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	577	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						AAGCAGTTTTCATATCTACAA	0.353000													11	5					0	0	1	0	0
SIRPB1	10326	broad.mit.edu	37	20	1552398	1552398	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr20:1552398C>T	ENST00000381605.4	-	3	783	c.719G>A	c.(718-720)cGt>cAt	p.R240H	RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000262929.5_Intron|SIRPB1_ENST00000381603.3_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	240	Ig-like C1-type 1.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GGCAGTCCCACGAAGAGGGTC	0.622000													37	55					0	0	1	0	0
PEG10	23089	broad.mit.edu	37	7	94293208	94293208	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:94293208G>A	ENST00000482108.1	+	2	819	c.340G>A	c.(340-342)Gat>Aat	p.D114N	PEG10_ENST00000488574.1_Missense_Mutation_p.D114N	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10	114	Necessary for interaction with ALK1.				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TTTCTCAGTTGATCGTGTCCG	0.557000													35	40					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168104667	168104667	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:168104667G>A	ENST00000409195.1	+	9	6854	c.6765G>A	c.(6763-6765)atG>atA	p.M2255I	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.M2033I|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.M2255I|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2080					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ACTTTCTAATGAAAACAAATA	0.373000													35	63					0	0	1	0	0
NEUROD4	58158	broad.mit.edu	37	12	55420715	55420715	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:55420715G>A	ENST00000242994.3	+	2	870	c.492G>A	c.(490-492)caG>caA	p.Q164Q		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	164					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						GGCTCTCTCAGCCCACAAGCA	0.522000													33	46					0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17088327	17088327	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:17088327C>T	ENST00000443236.1	-	15	1781	c.1750G>A	c.(1750-1752)Gag>Aag	p.E584K	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	537						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						ACGTCGACCTCAGCTTCTGGG	0.592000													22	41					0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79058878	79058878	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr15:79058878C>T	ENST00000388820.4	-	19	3585	c.3375G>A	c.(3373-3375)ctG>ctA	p.L1125L		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1125					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						ACCAAGGTCCCAGTACCCCCT	0.687000													15	26					0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23234568	23234568	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:23234568C>T	ENST00000400191.3	+	12	2277	c.2259C>T	c.(2257-2259)ctC>ctT	p.L753L	EPHB2_ENST00000374627.1_Silent_p.L748L|EPHB2_ENST00000374630.3_Silent_p.L753L|EPHB2_ENST00000374632.3_Silent_p.L754L	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	753	Protein kinase.				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)		GCAACATCCTCGTCAACAGCA	0.567000													69	32					0	0	1	0	0
SPRY1	10252	broad.mit.edu	37	4	124322916	124322916	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr4:124322916C>T	ENST00000394339.2	+	2	510	c.170C>T	c.(169-171)cCt>cTt	p.P57L	SPRY1_ENST00000339241.1_Missense_Mutation_p.P57L	NM_001258039.1|NM_005841.2	NP_001244968.1|NP_005832.1	O43609	SPY1_HUMAN	sprouty homolog 1, antagonist of FGF signaling (Drosophila)	57					epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|lamellipodium|plasma membrane				NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						ACAGAAGGGCCTTCGGTGGTG	0.433000													26	125					0	0	1	0	0
C14orf93	60686	broad.mit.edu	37	14	23457125	23457125	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:23457125C>T	ENST00000299088.6	-	6	1613	c.1184G>A	c.(1183-1185)aGt>aAt	p.S395N	C14orf93_ENST00000406429.2_Missense_Mutation_p.S395N|C14orf93_ENST00000341470.4_Missense_Mutation_p.S395N|C14orf93_ENST00000397377.1_Missense_Mutation_p.S215N|RP11-298I3.4_ENST00000557615.1_RNA|C14orf93_ENST00000397382.4_Missense_Mutation_p.S395N|RP11-298I3.4_ENST00000556503.1_RNA|RP11-298I3.4_ENST00000555294.1_RNA|C14orf93_ENST00000397379.3_Missense_Mutation_p.S395N	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN	chromosome 14 open reading frame 93	395						extracellular region				kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		ATATCGGCGACTTCGAAGTTT	0.478000													50	62					0	0	1	0	0
XPC	7508	broad.mit.edu	37	3	14190065	14190065	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:14190065G>A	ENST00000285021.7	-	13	2631	c.2417C>T	c.(2416-2418)cCc>cTc	p.P806L	XPC_ENST00000449060.2_Missense_Mutation_p.P769L	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	806	DNA-binding; preference for single stranded DNA; required for formation of stable nucleoprotein complex.				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CACGCACACGGGATGGGAGTA	0.612000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				17	21					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144991826	144991826	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr8:144991826G>A	ENST00000322810.4	-	32	12743	c.12574C>T	c.(12574-12576)Cct>Tct	p.P4192S	PLEC_ENST00000345136.3_Missense_Mutation_p.P4055S|PLEC_ENST00000354589.3_Missense_Mutation_p.P4055S|PLEC_ENST00000398774.2_Missense_Mutation_p.P4023S|PLEC_ENST00000527096.1_Missense_Mutation_p.P4078S|PLEC_ENST00000354958.2_Missense_Mutation_p.P4033S|PLEC_ENST00000357649.2_Missense_Mutation_p.P4059S|PLEC_ENST00000356346.3_Missense_Mutation_p.P4041S|PLEC_ENST00000436759.2_Missense_Mutation_p.P4082S	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4192	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CTCTCCTCAGGGTCGATGATG	0.637000													38	47					0	0	1	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31124988	31124988	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:31124988G>A	ENST00000304166.4	+	9	889	c.600G>A	c.(598-600)gcG>gcA	p.A200A	ADCYAP1R1_ENST00000409363.1_Silent_p.A179A|ADCYAP1R1_ENST00000396211.2_Silent_p.A200A|ADCYAP1R1_ENST00000409489.1_Silent_p.A200A	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	200					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						TGCTGAGGGCGATCTCCGTCT	0.527000													54	76					0	0	1	0	0
GRIK1	2897	broad.mit.edu	37	21	30961161	30961161	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr21:30961161G>A	ENST00000399914.1	-	10	2043	c.1522C>T	c.(1522-1524)Cac>Tac	p.H508Y	GRIK1_ENST00000399909.1_Missense_Mutation_p.H508Y|GRIK1_ENST00000389124.2_Missense_Mutation_p.H523Y|GRIK1_ENST00000389125.3_Missense_Mutation_p.H508Y|GRIK1_ENST00000327783.4_Missense_Mutation_p.H523Y|GRIK1_ENST00000399907.1_Missense_Mutation_p.H523Y|GRIK1_ENST00000535441.1_Missense_Mutation_p.H525Y|GRIK1_ENST00000399913.1_Missense_Mutation_p.H523Y|GRIK1_ENST00000309434.7_Missense_Mutation_p.H525Y			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	523					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	TTACTTACGTGATCTATGAGT	0.363000													25	73					0	0	1	0	0
C20orf112	140688	broad.mit.edu	37	20	31041379	31041379	+	Splice_Site	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr20:31041379G>A	ENST00000359676.5	-	4	715	c.573_splice	c.e4+1	p.N191_splice	C20orf112_ENST00000475781.1_5'UTR|RP5-1184F4.5_ENST00000442179.1_RNA	NM_001256798.1|NM_080616.4	NP_001243727.1|NP_542183.2	Q96MY1	CT112_HUMAN	chromosome 20 open reading frame 112	191										endometrium(3)|kidney(2)|large_intestine(5)|lung(5)	15						CGGTGCTCACGTTGAAGGCCT	0.582000													15	35					0	0	1	0	0
RPS6KB1	6198	broad.mit.edu	37	17	58009056	58009056	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:58009056C>T	ENST00000225577.4	+	7	682	c.661C>T	c.(661-663)Ccg>Tcg	p.P221S	RPS6KB1_ENST00000443572.2_Missense_Mutation_p.P198S|RPS6KB1_ENST00000406116.3_Missense_Mutation_p.P221S|RPS6KB1_ENST00000393021.3_Missense_Mutation_p.P168S	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 1	221	Protein kinase.				apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade	cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|synapse|synaptosome	ATP binding|protein binding|protein kinase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			AGACCTGAAGCCGGAGAATAT	0.383000													16	34					0	0	1	0	0
ADAM2	2515	broad.mit.edu	37	8	39604026	39604026	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr8:39604026C>T	ENST00000265708.4	-	19	2242	c.2139G>A	c.(2137-2139)agG>agA	p.R713R	ADAM2_ENST00000347580.4_Silent_p.R694R|ADAM2_ENST00000521880.1_Silent_p.R650R|ADAM2_ENST00000379853.2_Silent_p.R557R	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	713					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TCCATTTTTTCCTTTGGAAAT	0.284000													40	49					0	0	1	0	0
OR1L3	26735	broad.mit.edu	37	9	125438296	125438296	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr9:125438296G>A	ENST00000304820.2	+	1	982	c.888G>A	c.(886-888)atG>atA	p.M296I		NM_001005234.1	NP_001005234.1	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L, member 3	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						ACAAAGACATGAAACGGGGCT	0.378000													11	40					0	0	1	0	0
A2M	2	broad.mit.edu	37	12	9251204	9251204	+	Splice_Site	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:9251204G>A	ENST00000318602.7	-	15	2157	c.1851_splice	c.e15+1	p.S617_splice		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	617					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	GGAACTCACCGAGGACGCCGA	0.552000													4	10					0	0	1	0	0
MROH5	389690	broad.mit.edu	37	8	142486217	142486217	+	RNA	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr8:142486217C>T	ENST00000430863.1	-	0	1556					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5																		GCTGAGACTTCCTTTCCAAGT	0.607000													3	8					0	0	1	0	0
KCTD7	154881	broad.mit.edu	37	7	66098385	66098385	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:66098385G>A	ENST00000275532.3	+	2	452	c.268G>A	c.(268-270)Gac>Aac	p.D90N	KCTD7_ENST00000443322.1_Missense_Mutation_p.D90N	NM_001167961.2|NM_153033.4	NP_001161433.1|NP_694578.1	Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	90	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						CATCCCCACGGACTCCGAGGG	0.557000													16	39					0	0	1	0	0
KRT75	9119	broad.mit.edu	37	12	52822256	52822256	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:52822256G>A	ENST00000252245.5	-	7	1386	c.1166C>T	c.(1165-1167)tCc>tTc	p.S389F	RP11-1020M18.10_ENST00000548135.1_RNA	NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	389	Coil 2.|Rod.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		TTGCAAGCTGGAACACTGTAA	0.577000													14	21					0	0	1	0	0
PDCD10	11235	broad.mit.edu	37	3	167405098	167405098	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:167405098C>A	ENST00000392750.2	-	8	898	c.481G>T	c.(481-483)Gaa>Taa	p.E161*	PDCD10_ENST00000497056.2_Nonsense_Mutation_p.E161*|PDCD10_ENST00000471885.1_Nonsense_Mutation_p.E161*|PDCD10_ENST00000470131.1_Nonsense_Mutation_p.E161*|PDCD10_ENST00000473645.2_Nonsense_Mutation_p.E161*|PDCD10_ENST00000487947.2_Nonsense_Mutation_p.E161*|PDCD10_ENST00000461494.1_Nonsense_Mutation_p.E161*|PDCD10_ENST00000492396.1_Nonsense_Mutation_p.E98*	NM_007217.3	NP_009148.2	Q9BUL8	PDC10_HUMAN	programmed cell death 10	161					angiogenesis|apoptosis|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of MAP kinase activity	cytosol|Golgi membrane|plasma membrane	protein homodimerization activity|protein N-terminus binding			central_nervous_system(1)|kidney(1)|lung(8)|urinary_tract(2)	12						TTTTGGTGTTCAAGTGCCTAC	0.308000													6	29					3.59834e-05	3.62694e-05	1	1	0
COL4A6	1288	broad.mit.edu	37	X	107413865	107413865	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chrX:107413865C>T	ENST00000394872.2	-	35	3701	c.3470G>A	c.(3469-3471)gGa>gAa	p.G1157E	COL4A6_ENST00000545689.1_Missense_Mutation_p.G1156E|COL4A6_ENST00000334504.7_Missense_Mutation_p.G1156E|COL4A6_ENST00000538570.1_Missense_Mutation_p.G1156E|COL4A6_ENST00000372216.4_Missense_Mutation_p.G1157E			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1157	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TCCGGGGGATCCTAGAGGCCC	0.498000									Alport syndrome with Diffuse Leiomyomatosis				161	84					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117376191	117376191	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:117376191C>T	ENST00000321322.6	-	9	2221	c.2220G>A	c.(2218-2220)cgG>cgA	p.R740R	DSCAML1_ENST00000527706.1_Silent_p.R470R	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	680	Ig-like C2-type 8.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GCTGGCGCTCCCGGCTCACGG	0.602000													35	19					0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72200466	72200466	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:72200466C>T	ENST00000555818.1	+	19	5356	c.5008C>T	c.(5008-5010)Ctg>Ttg	p.L1670L	SIPA1L1_ENST00000537413.1_Silent_p.L1124L|SIPA1L1_ENST00000381232.3_Silent_p.L1649L|SIPA1L1_ENST00000358550.2_Silent_p.L1649L|SIPA1L1_ENST00000554874.1_3'UTR	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1670					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CCTGATGCCCCTGCCTGACAC	0.602000													20	59					0	0	1	0	0
NCOR2	9612	broad.mit.edu	37	12	124824946	124824946	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:124824946G>A	ENST00000356219.3	-	37	5558	c.5403C>T	c.(5401-5403)tcC>tcT	p.S1801S	NCOR2_ENST00000429285.2_Silent_p.S1784S|NCOR2_ENST00000404121.2_Silent_p.S1355S|NCOR2_ENST00000397355.1_Silent_p.S1785S|NCOR2_ENST00000404621.1_Silent_p.S1784S|NCOR2_ENST00000405201.1_Silent_p.S1794S	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1802					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)		GCTCCCGCTCGGACGAGGACG	0.622000													26	8					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34158635	34158635	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:34158635C>T	ENST00000373381.4	-	25	4123	c.3947G>A	c.(3946-3948)aGa>aAa	p.R1316K	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.R189K	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1276	CUB 8.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CACCTCTCCTCTCACTGTCCC	0.577000													71	33					0	0	1	0	0
BAI1	575	broad.mit.edu	37	8	143559619	143559619	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr8:143559619C>T	ENST00000517894.1	+	7	2353	c.1459C>T	c.(1459-1461)Cga>Tga	p.R487*	BAI1_ENST00000323289.5_Nonsense_Mutation_p.R487*			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	487	TSP type-1 4.				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CTCCCAGGGCCGACAGCAGCG	0.677000													9	21					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78318783	78318783	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:78318783G>A	ENST00000582970.1	+	29	6791	c.6648G>A	c.(6646-6648)cgG>cgA	p.R2216R	RNF213_ENST00000336301.6_Silent_p.R289R|RNF213_ENST00000508628.2_Silent_p.R2265R	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CAGAGCTTCGGAACTTTGCTC	0.502000													65	84					0	0	1	0	0
C8orf34	116328	broad.mit.edu	37	8	69358639	69358639	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr8:69358639C>T	ENST00000337103.4	+	2	1810	c.218C>T	c.(217-219)tCa>tTa	p.S73L	C8orf34_ENST00000523686.1_Missense_Mutation_p.S98L|C8orf34_ENST00000349492.3_3'UTR|C8orf34_ENST00000539993.1_Missense_Mutation_p.S98L|C8orf34_ENST00000518698.1_Missense_Mutation_p.S184L|C8orf34_ENST00000348340.2_Missense_Mutation_p.S98L			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	98					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			CCTAAAAAATCAAAAAGTGAC	0.328000													28	43					0	0	1	0	0
MGARP	84709	broad.mit.edu	37	4	140188177	140188177	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr4:140188177G>A	ENST00000398955.1	-	4	478	c.299C>T	c.(298-300)gCg>gTg	p.A100V		NM_032623.3	NP_116012.2	Q8TDB4	CD049_HUMAN	mitochondria-localized glutamic acid-rich protein	100						integral to membrane											CTCAGTTTCCGCAACATTCTC	0.413000													4	183					0	0	1	0	0
PALD1	27143	broad.mit.edu	37	10	72292494	72292494	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr10:72292494G>A	ENST00000263563.6	+	6	1019	c.751G>A	c.(751-753)Gag>Aag	p.E251K		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1																		GCATGTGACGGAGGAGGTGTA	0.627000													61	97					0	0	1	0	0
PPEF1	5475	broad.mit.edu	37	X	18822094	18822094	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chrX:18822094C>T	ENST00000361511.4	+	14	1644	c.1150C>T	c.(1150-1152)Cca>Tca	p.P384S	PPEF1_ENST00000359763.6_Missense_Mutation_p.P331S|PPEF1_ENST00000349874.5_Intron|PPEF1_ENST00000544635.1_Missense_Mutation_p.P319S|PPEF1_ENST00000543630.1_Intron	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	384	Catalytic.				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					CTATTTTGGACCAGATGTTAC	0.423000													75	28					0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25265186	25265186	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr13:25265186C>T	ENST00000218548.6	+	8	1217	c.884C>T	c.(883-885)gCc>gTc	p.A295V	ATP12A_ENST00000381946.3_Missense_Mutation_p.A289V	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	289					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	GCCTCATTGGCCTCAGGAGTT	0.517000													134	70					0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	96706415	96706415	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:96706415G>A	ENST00000389672.5	+	3	730	c.692G>A	c.(691-693)gGa>gAa	p.G231E	EPHA6_ENST00000542517.1_Missense_Mutation_p.G137E|EPHA6_ENST00000470610.2_Missense_Mutation_p.G231E	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	136						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GAGTCCCACGGAATTAAATTC	0.403000													73	156					0	0	1	0	0
GOLGA2P9	440518	broad.mit.edu	37	19	22784227	22784227	+	RNA	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:22784227C>T	ENST00000600260.1	+	0	661					NR_033899.1																						CATGGCTCTCCCTGAGGAAGG	0.587000													4	14					0	0	1	0	0
C12orf10	60314	broad.mit.edu	37	12	53696850	53696850	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:53696850C>T	ENST00000267103.5	+	3	414	c.362C>T	c.(361-363)cCt>cTt	p.P121L	C12orf10_ENST00000548632.1_Missense_Mutation_p.P97L|C12orf10_ENST00000549488.1_Intron	NM_021640.3	NP_067653.3	Q86UA3	Q86UA3_HUMAN	chromosome 12 open reading frame 10	121										cervix(1)|endometrium(3)|kidney(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	20						TCCCTGTCCCCTGGGAAGCCG	0.577000													79	134					0	0	1	0	0
GAL3ST2	64090	broad.mit.edu	37	2	242741287	242741287	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:242741287C>T	ENST00000192314.6	+	3	342	c.211C>T	c.(211-213)Ctc>Ttc	p.L71F	AC114730.5_ENST00000437438.1_RNA	NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	71					biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		GCTCAACATCCTCTACCGCTT	0.672000													41	18					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91672026	91672026	+	Missense_Mutation	SNP	A	A	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:91672026A>T	ENST00000359028.2	+	21	5364	c.5139A>T	c.(5137-5139)aaA>aaT	p.K1713N	AKAP9_ENST00000356239.3_Missense_Mutation_p.K1701N|AKAP9_ENST00000358100.2_Missense_Mutation_p.K1713N			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1713					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAACATTTAAAGAAAAGGAAT	0.328000			T	BRAF	papillary thyroid								33	53					0	0	1	0	0
GLIS3	169792	broad.mit.edu	37	9	4118187	4118187	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr9:4118187C>T	ENST00000324333.10	-	3	1019	c.826G>A	c.(826-828)Gaa>Aaa	p.E276K	GLIS3_ENST00000381971.3_Missense_Mutation_p.E431K	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	276					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		TCCAGGCGTTCGGTCTTGAAC	0.726000													12	3					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	124999873	124999873	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:124999873G>A	ENST00000431078.1	+	3	648	c.284G>A	c.(283-285)gGa>gAa	p.G95E		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	95	F5/8 type C.				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)		GCCACGCAGGGAAGATACGGA	0.527000													10	16					0	0	1	0	0
B3GNT3	10331	broad.mit.edu	37	19	17922440	17922440	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:17922440G>A	ENST00000318683.6	+	3	775	c.628G>A	c.(628-630)Gat>Aat	p.D210N	B3GNT3_ENST00000595387.1_Missense_Mutation_p.D210N	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	210					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						GCTCAACGGGGATGATGACGT	0.587000													25	38					0	0	1	0	0
PVRL4	81607	broad.mit.edu	37	1	161042634	161042634	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:161042634C>T	ENST00000368012.3	-	9	1652	c.1350G>A	c.(1348-1350)acG>acA	p.T450T	PVRL4_ENST00000486694.1_5'UTR|PVRL4_ENST00000453926.2_Silent_p.T159T	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	450					adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TCTCCCTCACCGTGGTCAGCG	0.587000													18	21					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55626539	55626539	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr10:55626539C>T	ENST00000373965.2	-	28	3995	c.3601G>A	c.(3601-3603)Gga>Aga	p.G1201R	PCDH15_ENST00000395433.1_Missense_Mutation_p.G1172R|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.G1194R|PCDH15_ENST00000437009.1_Missense_Mutation_p.G1123R|PCDH15_ENST00000395432.2_Missense_Mutation_p.G1157R|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.G1194R|PCDH15_ENST00000395430.1_Missense_Mutation_p.G1194R|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000409834.1_Missense_Mutation_p.G805R|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.G1201R|PCDH15_ENST00000361849.3_Missense_Mutation_p.G1194R|PCDH15_ENST00000414778.1_Missense_Mutation_p.G1199R|PCDH15_ENST00000395440.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1194	Cadherin 11.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.G1199*(2)|p.G1194*(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACTACAAATCCTTCTTTTCCC	0.378000										HNSCC(58;0.16)			33	63					0	0	1	0	0
SLC16A9	220963	broad.mit.edu	37	10	61413644	61413644	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr10:61413644G>A	ENST00000395348.3	-	5	1776	c.1140C>T	c.(1138-1140)atC>atT	p.I380I	SLC16A9_ENST00000395347.1_Silent_p.I380I	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	380					urate metabolic process	integral to membrane|plasma membrane	symporter activity			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						GGCCCATGATGATTAAGGTAG	0.418000													58	76					0	0	1	0	0
ILDR1	286676	broad.mit.edu	37	3	121712147	121712147	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:121712147C>T	ENST00000273691.3	-	6	1422	c.1317G>A	c.(1315-1317)gaG>gaA	p.E439E	ILDR1_ENST00000393631.1_Silent_p.E394E|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000462014.1_Silent_p.E451E|ILDR1_ENST00000344209.5_Silent_p.E483E	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	483	Arg-rich.					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)		TCTCCTTGTCCTCTTCAGAGC	0.682000													18	24					0	0	1	0	0
SEMA6A	57556	broad.mit.edu	37	5	115783140	115783140	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:115783140G>A	ENST00000343348.6	-	19	3049	c.2262C>T	c.(2260-2262)gcC>gcT	p.A754A	SEMA6A_ENST00000513137.1_Silent_p.A181A|SEMA6A_ENST00000257414.8_Silent_p.A771A|SEMA6A_ENST00000510263.1_Silent_p.A754A|SEMA6A_ENST00000282394.6_Silent_p.A231A|SEMA6A_ENST00000503865.1_Silent_p.A133A	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	754					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		GGGTGGGGAGGGCCGTCAGGT	0.632000													106	222					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215916588	215916588	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:215916588G>A	ENST00000366943.2	-	59	11865	c.11479C>T	c.(11479-11481)Caa>Taa	p.Q3827*	USH2A_ENST00000307340.3_Nonsense_Mutation_p.Q3827*			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3827	Fibronectin type-III 23.				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)		AGGGTGGATTGATGATGACCA	0.438000										HNSCC(13;0.011)			65	62					0	0	1	0	0
KCNJ2	3759	broad.mit.edu	37	17	68171832	68171832	+	Missense_Mutation	SNP	C	C	T	rs104894578		TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:68171832C>T	ENST00000243457.3	+	2	1035	c.652C>T	c.(652-654)Cgg>Tgg	p.R218W	KCNJ2_ENST00000535240.1_Missense_Mutation_p.R218W	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	218			R -> W (in LQT7; loss of function and dominant-negative effect in current).		synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					GGGCAATCTTCGGAAAAGCCA	0.468000													39	39					0	0	1	0	0
ZNF699	374879	broad.mit.edu	37	19	9407499	9407499	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:9407499G>A	ENST00000591998.1	-	6	809	c.581C>T	c.(580-582)tCc>tTc	p.S194F	ZNF699_ENST00000308650.3_Missense_Mutation_p.S194F			Q32M78	ZN699_HUMAN	zinc finger protein 699	194					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCATTCACAGGATTTTACTTC	0.403000													42	99					0	0	1	0	0
SLC22A12	116085	broad.mit.edu	37	11	64359217	64359217	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:64359217C>T	ENST00000377574.1	+	1	936	c.189C>T	c.(187-189)atC>atT	p.I63I	SLC22A12_ENST00000336464.7_Silent_p.I63I|SLC22A12_ENST00000377572.1_Silent_p.I63I|SLC22A12_ENST00000377567.2_Silent_p.I63I|SLC22A12_ENST00000473690.1_5'UTR	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	63					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						AGGCCAGCATCCTAGGGAGCT	0.682000													33	31					0	0	1	0	0
DUOX1	53905	broad.mit.edu	37	15	45454088	45454088	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr15:45454088C>T	ENST00000321429.4	+	31	4416	c.4009C>T	c.(4009-4011)Cgg>Tgg	p.R1337W	CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Missense_Mutation_p.R1337W|DUOX1_ENST00000561166.1_Missense_Mutation_p.R983W	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1337	FAD-binding FR-type.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CCTGCACATCCGGGCAGCAGG	0.642000													30	16					0	0	1	0	0
ZC3H12B	340554	broad.mit.edu	37	X	64722321	64722321	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chrX:64722321C>T	ENST00000338957.4	+	5	1810	c.1743C>T	c.(1741-1743)ctC>ctT	p.L581L	ZC3H12B_ENST00000423889.3_Silent_p.L570L	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	570							endonuclease activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATCCTAACCTCTGTTCTGACA	0.468000													14	3					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78318782	78318782	+	Missense_Mutation	SNP	G	G	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:78318782G>T	ENST00000582970.1	+	29	6790	c.6647G>T	c.(6646-6648)cGg>cTg	p.R2216L	RNF213_ENST00000336301.6_Missense_Mutation_p.R289L|RNF213_ENST00000508628.2_Missense_Mutation_p.R2265L	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TCAGAGCTTCGGAACTTTGCT	0.502000													64	84					6.20203e-27	6.39252e-27	1	1	0
FRY	10129	broad.mit.edu	37	13	32676119	32676119	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr13:32676119C>T	ENST00000380250.3	+	3	786	c.290C>T	c.(289-291)tCt>tTt	p.S97F		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	97					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TTGACAAAATCTCTGCAACGT	0.328000													39	49					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228846444	228846444	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:228846444C>T	ENST00000392056.3	-	12	5138	c.5092G>A	c.(5092-5094)Gaa>Aaa	p.E1698K	SPHKAP_ENST00000344657.5_Missense_Mutation_p.E1669K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1698						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)		TATCCCAGTTCCAAGAGCCAG	0.428000													37	51					0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123451944	123451944	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:123451944C>T	ENST00000360772.3	-	12	1693	c.1315G>A	c.(1315-1317)Ggg>Agg	p.G439R	MYLK_ENST00000359169.1_Missense_Mutation_p.G439R|MYLK_ENST00000346322.5_Intron|MYLK_ENST00000360304.3_Missense_Mutation_p.G439R|MYLK_ENST00000475616.1_Missense_Mutation_p.G439R			Q15746	MYLK_HUMAN	myosin light chain kinase	439	Ig-like C2-type 3.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TTTGGAATCCCGGAAACTACA	0.562000													7	15					0	0	1	0	0
GNAI2	2771	broad.mit.edu	37	3	50293694	50293694	+	Missense_Mutation	SNP	C	C	T	rs137853226		TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:50293694C>T	ENST00000313601.6	+	5	919	c.535C>T	c.(535-537)Cgc>Tgc	p.R179C	GNAI2_ENST00000536647.1_Missense_Mutation_p.R98C|GNAI2_ENST00000440628.1_Missense_Mutation_p.R127C|GNAI2_ENST00000266027.5_Missense_Mutation_p.R163C|GNAI2_ENST00000422163.1_Missense_Mutation_p.R163C|GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000451956.1_Missense_Mutation_p.R142C	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2	179					adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		GCTACGGACCCGCGTAAAGAC	0.592000													37	40					0	0	1	0	0
GRM4	2914	broad.mit.edu	37	6	34059678	34059678	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr6:34059678G>A	ENST00000374181.3	-	2	887	c.718C>T	c.(718-720)Cag>Tag	p.Q240*	GRM4_ENST00000455714.2_Nonsense_Mutation_p.Q100*|GRM4_ENST00000535756.1_Nonsense_Mutation_p.Q107*|GRM4_ENST00000538487.1_Nonsense_Mutation_p.Q240*|GRM4_ENST00000374177.3_Nonsense_Mutation_p.Q171*|GRM4_ENST00000544773.1_Nonsense_Mutation_p.Q71*	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	240					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	CGGGACTTCTGGATGAAGGCC	0.637000													13	24					0	0	1	0	0
SCRIB	23513	broad.mit.edu	37	8	144893367	144893367	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr8:144893367G>A	ENST00000356994.2	-	10	1061	c.1055C>T	c.(1054-1056)cCa>cTa	p.P352L	SCRIB_ENST00000320476.3_Missense_Mutation_p.P352L|SCRIB_ENST00000377533.3_Missense_Mutation_p.P271L	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	352	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GGCCAGCTCTGGTGGCAGGAC	0.701000													9	21					0	0	1	0	0
PCDHA2	56146	broad.mit.edu	37	5	140175832	140175832	+	Missense_Mutation	SNP	G	G	A	rs148429256		TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:140175832G>A	ENST00000526136.1	+	1	1283	c.1283G>A	c.(1282-1284)cGg>cAg	p.R428Q	PCDHA2_ENST00000520672.2_Missense_Mutation_p.R428Q|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.R428Q	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGACCGCACGGGACGGGGGC	0.627000													128	122					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62290459	62290459	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:62290459G>A	ENST00000378024.4	-	5	11704	c.11430C>T	c.(11428-11430)ccC>ccT	p.P3810P	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3810					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGCTGAACTTGGGCATTTTCA	0.522000													171	314					0	0	1	0	0
OR2C3	81472	broad.mit.edu	37	1	247695273	247695273	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:247695273C>T	ENST00000366487.3	-	2	902	c.541G>A	c.(541-543)Gag>Aag	p.E181K	GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527084.1_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			AGGGGCATCTCGCAAAAGAAG	0.567000													22	17					0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103173935	103173935	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:103173935C>T	ENST00000375735.2	+	76	11353	c.11209C>T	c.(11209-11211)Ctt>Ttt	p.L3737F	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.L3744F|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3737	AAA 6 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TTCTCAGGAACTTCAAGAACT	0.418000													18	39					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168115737	168115737	+	Missense_Mutation	SNP	A	A	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:168115737A>T	ENST00000409728.1	+	11	2869	c.2780A>T	c.(2779-2781)aAt>aTt	p.N927I	XIRP2_ENST00000409756.2_Missense_Mutation_p.N894I|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409043.1_Missense_Mutation_p.N894I|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409605.1_Missense_Mutation_p.N672I|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000420519.1_Missense_Mutation_p.N927I	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GCCCGCAATAATGAAAACACA	0.423000													58	75					0	0	1	0	0
OR4C16	219428	broad.mit.edu	37	11	55339891	55339891	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:55339891G>A	ENST00000314634.3	+	1	288	c.288G>A	c.(286-288)atG>atA	p.M96I		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				GCGAGTGCATGATCCAAGTCT	0.468000													89	177					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201081319	201081319	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:201081319C>T	ENST00000362061.3	-	1	375	c.149G>A	c.(148-150)tGg>tAg	p.W50*	CACNA1S_ENST00000367338.3_Nonsense_Mutation_p.W50*	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	50					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AGGATACTTCCATTCTACAAT	0.607000													31	39					0	0	1	0	0
ABTB2	25841	broad.mit.edu	37	11	34180931	34180931	+	Missense_Mutation	SNP	A	A	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:34180931A>T	ENST00000435224.2	-	14	3033	c.2609T>A	c.(2608-2610)tTc>tAc	p.F870Y	ABTB2_ENST00000298992.2_Missense_Mutation_p.F684Y	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	684							DNA binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				TAGTGTCTTGAACCTGGAGCA	0.488000													17	43					0	0	1	0	0
CCDC61	729440	broad.mit.edu	37	19	46498701	46498701	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:46498701C>T	ENST00000263284.2	+	2	99	c.99C>T	c.(97-99)tcC>tcT	p.S33S						coiled-coil domain containing 61											endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164)		ACGCCGGATCCTGGGGCGGGG	0.622000													7	14					0	0	1	0	0
ZSCAN25	221785	broad.mit.edu	37	7	99217285	99217285	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:99217285C>T	ENST00000394152.2	+	4	383	c.56C>T	c.(55-57)cCt>cTt	p.P19L	ZSCAN25_ENST00000334715.3_Missense_Mutation_p.P19L|ZSCAN25_ENST00000262941.6_Missense_Mutation_p.P19L	NM_145115.2	NP_660090.2			zinc finger and SCAN domain containing 25																		TTGGGTATTCCTGTGGTGAAA	0.537000													98	151					0	0	1	0	0
ITIH4	3700	broad.mit.edu	37	3	52858225	52858225	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:52858225G>A	ENST00000266041.4	-	9	1248	c.1152C>T	c.(1150-1152)acC>acT	p.T384T	ITIH4_ENST00000406595.1_Silent_p.T384T|ITIH4_ENST00000485816.1_Silent_p.T384T|ITIH4_ENST00000346281.5_Silent_p.T384T|ITIH4-AS1_ENST00000478366.1_RNA|ITIH4_ENST00000434759.3_Silent_p.T296T	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	384	VWFA.				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		GGTCGCCATCGGTGAGCAGGA	0.632000													57	61					0	0	1	0	0
N4BP2	55728	broad.mit.edu	37	4	40104657	40104657	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr4:40104657C>T	ENST00000261435.6	+	4	1608	c.1192C>T	c.(1192-1194)Cca>Tca	p.P398S		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	398						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						CTACACATTTCCACCCTCAGT	0.428000													26	78					0	0	1	0	0
ZFAT	57623	broad.mit.edu	37	8	135490920	135490920	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr8:135490920C>T	ENST00000429442.2	-	16	3535	c.3391G>A	c.(3391-3393)Gga>Aga	p.G1131R	ZFAT_ENST00000520356.1_Silent_p.Q1081Q|ZFAT_ENST00000520214.1_Silent_p.Q1167Q|ZFAT_ENST00000520727.1_Silent_p.Q1167Q|ZFAT_ENST00000377838.3_Silent_p.Q1179Q|ZFAT_ENST00000523399.1_Silent_p.Q1117Q			Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	1143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GGACCGTCTCCTGGATCATGA	0.637000													4	7					0	0	1	0	0
CSPG4	1464	broad.mit.edu	37	15	75980210	75980210	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr15:75980210C>T	ENST00000308508.5	-	3	3288	c.3196G>A	c.(3196-3198)Ggc>Agc	p.G1066S		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1066	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						ACGATACTGCCAAAGAGGAGG	0.627000													81	22					0	0	1	0	0
MYLK3	91807	broad.mit.edu	37	16	46782007	46782007	+	Missense_Mutation	SNP	G	G	T	rs116998681	by1000genomes	TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr16:46782007G>T	ENST00000394809.4	-	1	214	c.99C>A	c.(97-99)aaC>aaA	p.N33K	MYLK3_ENST00000536476.1_Intron	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	33					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CCACCTTCTCGTTCAGCATGT	0.582000													50	31					1.0442e-30	1.07919e-30	1	1	0
OSBPL3	26031	broad.mit.edu	37	7	24932042	24932042	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:24932042G>A	ENST00000313367.2	-	2	501	c.50C>T	c.(49-51)cCt>cTt	p.P17L	OSBPL3_ENST00000353930.1_Missense_Mutation_p.P17L|OSBPL3_ENST00000431825.2_Missense_Mutation_p.P17L|OSBPL3_ENST00000396429.1_Missense_Mutation_p.P17L|OSBPL3_ENST00000396431.1_Missense_Mutation_p.P17L|OSBPL3_ENST00000352860.1_Missense_Mutation_p.P17L|OSBPL3_ENST00000409069.1_Missense_Mutation_p.P17L	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	17					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						GCTCCTTGAAGGTGATACCAA	0.418000													31	38					0	0	1	0	0
RGL2	5863	broad.mit.edu	37	6	33263166	33263166	+	Missense_Mutation	SNP	A	A	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr6:33263166A>T	ENST00000497454.1	-	8	1549	c.1054T>A	c.(1054-1056)Tat>Aat	p.Y352N	RGL2_ENST00000444031.2_Missense_Mutation_p.Y270N|RGL2_ENST00000437840.2_5'UTR|PFDN6_ENST00000463584.1_Intron	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	352	Ras-GEF.				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						ACCACGGCATAAACTGAAGAG	0.607000													7	8					0	0	1	0	0
BTN2A3P	54718	broad.mit.edu	37	6	26423293	26423293	+	RNA	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr6:26423293C>T	ENST00000466808.2	+	0	212																											TCTCAGTTCTCCCCTGCAGTG	0.537000													42	59					0	0	1	0	0
CHIA	27159	broad.mit.edu	37	1	111857905	111857905	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:111857905G>A	ENST00000369740.1	+	6	431	c.328G>A	c.(328-330)Gtt>Att	p.V110I	CHIA_ENST00000483391.1_Intron|CHIA_ENST00000343320.6_Missense_Mutation_p.V110I|CHIA_ENST00000430615.1_Missense_Mutation_p.V2I|CHIA_ENST00000451398.2_5'UTR|CHIA_ENST00000353665.6_Intron	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	110					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		CACTGCCATGGTTTCTACTCC	0.517000													108	145					0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120475301	120475301	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr9:120475301G>A	ENST00000355622.6	+	3	996	c.895G>A	c.(895-897)Gat>Aat	p.D299N	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.D259N	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	299			D -> G (in allele TLR4*B; reduced LPS- response; associated with an increased risk for ARMD10 in Caucasian patients carriers; dbSNP:rs4986790).		activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						CTACCTCGATGATATTATTGA	0.348000													29	70					0	0	1	0	0
EFNB1	1947	broad.mit.edu	37	X	68060446	68060446	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chrX:68060446C>T	ENST00000204961.4	+	5	1770	c.990C>T	c.(988-990)atC>atT	p.I330I		NM_004429.4	NP_004420.1	P98172	EFNB1_HUMAN	ephrin-B1	330					cell adhesion|cell-cell signaling	integral to plasma membrane|soluble fraction|synapse	ephrin receptor binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						CTGTCTACATCGTCCAAGAGA	0.617000													20	4					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181701793	181701793	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:181701793G>A	ENST00000526775.1	+	19	2679	c.2514G>A	c.(2512-2514)aaG>aaA	p.K838K	CACNA1E_ENST00000367573.2_Silent_p.K857K|CACNA1E_ENST00000357570.5_Silent_p.K808K|CACNA1E_ENST00000358338.5_Silent_p.K789K|CACNA1E_ENST00000360108.3_Silent_p.K838K|CACNA1E_ENST00000367570.1_Silent_p.K857K|CACNA1E_ENST00000367567.4_Silent_p.K464K	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	857				LAL -> WP (in Ref. 1; AAA72125).	energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GGTCCCTCAAGGGGGATGGAG	0.677000													5	8					0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5485360	5485360	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:5485360G>A	ENST00000345221.3	-	3	1025	c.471C>T	c.(469-471)taC>taT	p.Y157Y	NLRP1_ENST00000269280.4_Silent_p.Y157Y|NLRP1_ENST00000354411.3_Silent_p.Y157Y|NLRP1_ENST00000262467.5_Silent_p.Y157Y|NLRP1_ENST00000577119.1_Silent_p.Y157Y|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000572272.1_Silent_p.Y157Y	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	157					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GAAGAGCTTGGTAGAGGAGTG	0.483000													13	20					0	0	1	0	0
PPT1	5538	broad.mit.edu	37	1	40544325	40544325	+	Silent	SNP	G	G	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:40544325G>T	ENST00000433473.3	-	7	1097	c.633C>A	c.(631-633)atC>atA	p.I211I	PPT1_ENST00000530076.1_5'UTR|PPT1_ENST00000372775.2_5'UTR|PPT1_ENST00000449045.2_Silent_p.I108I	NM_000310.3	NP_000301.1	P50897	PPT1_HUMAN	palmitoyl-protein thioesterase 1	211					brain development|cofactor metabolic process|cofactor transport|DNA fragmentation involved in apoptotic nuclear change|lysosomal lumen acidification|membrane raft organization|negative regulation of cell growth|negative regulation of neuron apoptosis|neuron development|pinocytosis|positive regulation of pinocytosis|positive regulation of receptor-mediated endocytosis|protein depalmitoylation|protein transport|receptor-mediated endocytosis|regulation of synapse structure and activity|sphingolipid catabolic process|visual perception	axon|cytosol|Golgi apparatus|lysosome|membrane fraction|membrane raft|nucleus|synaptic vesicle	palmitoyl-(protein) hydrolase activity|palmitoyl-CoA hydrolase activity			endometrium(5)|large_intestine(1)|lung(3)|ovary(1)|stomach(1)	11	Lung NSC(20;3.43e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGGACTCATTGATACCCTGAA	0.478000													38	22					8.73648e-17	8.97239e-17	1	1	0
EPHA6	285220	broad.mit.edu	37	3	96706414	96706414	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:96706414G>A	ENST00000389672.5	+	3	729	c.691G>A	c.(691-693)Gga>Aga	p.G231R	EPHA6_ENST00000542517.1_Missense_Mutation_p.G137R|EPHA6_ENST00000470610.2_Missense_Mutation_p.G231R	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	136						integral to plasma membrane	ATP binding|ephrin receptor activity	p.G137*(2)|p.G231*(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TGAGTCCCACGGAATTAAATT	0.398000													71	155					0	0	1	0	0
CXorf22	170063	broad.mit.edu	37	X	35993912	35993912	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chrX:35993912G>A	ENST00000297866.5	+	15	2661	c.2595G>A	c.(2593-2595)atG>atA	p.M865I		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	865										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						GCTTCTTCATGAAAACATGTT	0.438000													83	39					0	0	1	0	0
ESRRB	2103	broad.mit.edu	37	14	76957851	76957851	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:76957851C>T	ENST00000380887.2	+	6	921	c.849C>T	c.(847-849)atC>atT	p.I283I	ESRRB_ENST00000261532.7_Silent_p.I283I|ESRRB_ENST00000556177.1_Silent_p.I283I|ESRRB_ENST00000509242.1_Silent_p.I283I			A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	283						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)		GGATGGAAATCCTCATCCTGG	0.622000													11	12					0	0	1	0	0
CNTN2	6900	broad.mit.edu	37	1	205027704	205027704	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:205027704G>A	ENST00000331830.4	+	5	684	c.400G>A	c.(400-402)Gaa>Aaa	p.E134K		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	134	Ig-like C2-type 2.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AGTTCTGCAGGAATTCTCCAA	0.602000													25	37					0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149227929	149227929	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:149227929C>T	ENST00000407073.1	+	9	3414	c.2417C>T	c.(2416-2418)tCc>tTc	p.S806F	MBD5_ENST00000404807.1_Missense_Mutation_p.S806F	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	806						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TTAGGAAATTCCTTACATCCC	0.458000													71	85					0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56249692	56249692	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:56249692C>T	ENST00000332836.2	-	1	76	c.49G>A	c.(49-51)Gag>Aag	p.E17K		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	17	DAPIN.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TTTCTGAGCTCCTTCAGATAC	0.448000													100	109					0	0	1	0	0
HGFAC	3083	broad.mit.edu	37	4	3446640	3446640	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr4:3446640C>T	ENST00000382774.3	+	8	1051	c.936C>T	c.(934-936)tcC>tcT	p.S312S	HGFAC_ENST00000511533.1_Silent_p.S312S	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	312	Kringle.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CCTGGAACTCCGATCTGCTCT	0.701000													11	5					0	0	1	0	0
OR5A1	219982	broad.mit.edu	37	11	59211109	59211109	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:59211109C>T	ENST00000302030.2	+	1	493	c.468C>T	c.(466-468)ttC>ttT	p.F156F		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						TTGGTGGCTTCCTGAGCTCCC	0.562000													161	248					0	0	1	0	0
KIAA1279	26128	broad.mit.edu	37	10	70748821	70748821	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr10:70748821C>T	ENST00000361983.4	+	1	335	c.233C>T	c.(232-234)gCt>gTt	p.A78V		NM_015634.3	NP_056449.1	Q96EK5	KBP_HUMAN	KIAA1279	78					cell differentiation|mitochondrial transport|nervous system development	mitochondrion	kinesin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						GGGCTGCCGGCTGAGGTGGTG	0.721000													48	40					0	0	1	0	0
ZNF300	91975	broad.mit.edu	37	5	150275209	150275209	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:150275209G>A	ENST00000446148.2	-	7	2067	c.1640C>T	c.(1639-1641)tCt>tTt	p.S547F	ZNF300_ENST00000394226.2_Missense_Mutation_p.S531F|ZNF300_ENST00000418587.2_Missense_Mutation_p.S495F|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000274599.5_Missense_Mutation_p.S531F	NM_001172831.1	NP_001166302.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	531					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGACTTCTGAGAGAAGGCTTT	0.448000													21	44					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					4	78					0	0	1	0	0
GLTSCR1	29998	broad.mit.edu	37	19	48198166	48198166	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:48198166G>A	ENST00000396720.3	+	9	3099	c.2905G>A	c.(2905-2907)Gga>Aga	p.G969R	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	969							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		GGTGCCGTCCGGAATCATCCT	0.682000													15	32					0	0	1	0	0
P2RY14	9934	broad.mit.edu	37	3	150931682	150931682	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:150931682C>T	ENST00000309170.3	-	3	735	c.423G>A	c.(421-423)ctG>ctA	p.L141L	MED12L_ENST00000273432.4_Intron|P2RY14_ENST00000424796.2_Silent_p.L141L|MED12L_ENST00000474524.1_Intron	NM_001081455.1|NM_014879.3	NP_001074924.1|NP_055694.3	Q15391	P2Y14_HUMAN	purinergic receptor P2Y, G-protein coupled, 14	141						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTATCACTGACAGAAGTTTGC	0.388000													28	53					0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560610	44560610	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr18:44560610G>A	ENST00000332567.4	-	1	1378	c.1026C>T	c.(1024-1026)aaC>aaT	p.N342N	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	342					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TCTCTCGGTCGTTGGAAAGCT	0.577000													45	25					0	0	1	0	0
TRBV7-7	28591	broad.mit.edu	37	7	142119896	142119896	+	RNA	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:142119896C>T	ENST00000390377.1	-	0	270																											GAGATGGATCCCTCAGGCCTC	0.567000													38	55					0	0	1	0	0
ELF3	1999	broad.mit.edu	37	1	201981790	201981790	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:201981790G>A	ENST00000359651.3	+	4	3693	c.501G>A	c.(499-501)caG>caA	p.Q167Q	ELF3_ENST00000367283.3_Silent_p.Q167Q|ELF3_ENST00000367284.5_Silent_p.Q167Q|RP11-510N19.5_ENST00000504773.1_RNA			P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription factor, epithelial-specific )	167					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						CCTTTGCCCAGGAGCTGCTGG	0.667000													38	64					0	0	1	0	0
SLC4A3	6508	broad.mit.edu	37	2	220501064	220501064	+	Silent	SNP	C	C	T	rs113725667	byFrequency	TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:220501064C>T	ENST00000358055.3	+	15	2744	c.2232C>T	c.(2230-2232)atC>atT	p.I744I	SLC4A3_ENST00000317151.3_Silent_p.I744I|SLC4A3_ENST00000273063.6_Silent_p.I771I|SLC4A3_ENST00000373760.2_Silent_p.I744I|SLC4A3_ENST00000373762.3_Silent_p.I771I			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	744	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCGAGCTGATCGTGTCCACCG	0.612000													65	97					0	0	1	0	0
CC2D1A	54862	broad.mit.edu	37	19	14024388	14024388	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:14024388G>A	ENST00000318003.7	+	6	926	c.685G>A	c.(685-687)Gag>Aag	p.E229K	CC2D1A_ENST00000589606.1_Missense_Mutation_p.E229K	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	229	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)			GGTCACCCTGGAGGGACCTTC	0.677000													27	34					0	0	1	0	0
RBM5	10181	broad.mit.edu	37	3	50131271	50131271	+	Missense_Mutation	SNP	T	T	G			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:50131271T>G	ENST00000347869.3	+	4	477	c.302T>G	c.(301-303)aTg>aGg	p.M101R	RBM5_ENST00000469838.1_Missense_Mutation_p.M101R	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	101	RRM 1.				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AAGACCATCATGCTGCGCGGC	0.498000													55	77					0	0	1	0	0
SPG20	23111	broad.mit.edu	37	13	36909302	36909302	+	Silent	SNP	A	A	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr13:36909302A>T	ENST00000451493.1	-	2	883	c.666T>A	c.(664-666)atT>atA	p.I222I	SPG20_ENST00000494062.2_Silent_p.I222I|SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000438666.2_Silent_p.I222I|SPG20_ENST00000355182.4_Silent_p.I222I	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	222					cell death	cytoplasm	ubiquitin protein ligase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		TTGGTATCAAAATCAATTCAT	0.433000													36	98					0	0	1	0	0
NIN	51199	broad.mit.edu	37	14	51225337	51225337	+	Missense_Mutation	SNP	T	T	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:51225337T>A	ENST00000245441.5	-	18	2601	c.2411A>T	c.(2410-2412)gAa>gTa	p.E804V	NIN_ENST00000389868.3_Intron|NIN_ENST00000382041.3_Missense_Mutation_p.E804V|NIN_ENST00000382043.4_Intron|NIN_ENST00000530997.2_Missense_Mutation_p.E804V|NIN_ENST00000324330.9_Missense_Mutation_p.E804V|NIN_ENST00000453196.1_Missense_Mutation_p.E804V	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	804					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					ACACTCTGTTTCCATTTTTTC	0.423000			T	PDGFRB	MPD								19	34					0	0	1	0	0
RIN2	54453	broad.mit.edu	37	20	19937298	19937298	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr20:19937298G>A	ENST00000255006.6	+	4	494	c.345G>A	c.(343-345)gaG>gaA	p.E115E	RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Silent_p.E66E	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	66	SH2.				endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						CCGAGGAAGAGGACGTGAAGA	0.572000													11	17					0	0	1	0	0
KRT33B	3884	broad.mit.edu	37	17	39522860	39522860	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:39522860G>A	ENST00000251646.3	-	3	499	c.450C>T	c.(448-450)tcC>tcT	p.S150S		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	150	Coil 1B.|Rod.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				GCTGCCGCAGGGACTGCTCCG	0.547000													40	52					0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36486604	36486604	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:36486604C>T	ENST00000342292.4	-	11	2868	c.2848G>A	c.(2848-2850)Gag>Aag	p.E950K		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	950						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				ATCCTTGGCTCTCCCAGGCCC	0.632000													10	10					0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35631824	35631824	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr8:35631824G>A	ENST00000287272.2	+	15	2299	c.2279G>A	c.(2278-2280)cGa>cAa	p.R760Q	UNC5D_ENST00000453357.2_Missense_Mutation_p.R824Q|UNC5D_ENST00000449677.1_Missense_Mutation_p.R405Q|UNC5D_ENST00000420357.1_Missense_Mutation_p.R762Q|UNC5D_ENST00000404895.2_Missense_Mutation_p.R829Q|UNC5D_ENST00000416672.1_Missense_Mutation_p.R834Q			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	829					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TAGAGTGAACGAGAAACCATC	0.423000													36	21					0	0	1	0	0
PPP1R14D	54866	broad.mit.edu	37	15	41120747	41120747	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr15:41120747C>T	ENST00000299174.5	-	1	160	c.93G>A	c.(91-93)agG>agA	p.R31R	PPP1R14D_ENST00000427255.2_Silent_p.R31R	NM_017726.7	NP_060196.1	Q9NXH3	PP14D_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14D	31					regulation of phosphorylation	cytoplasm	protein phosphatase inhibitor activity			breast(1)|large_intestine(2)|lung(2)|skin(1)	6		all_cancers(109;6.29e-14)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.88e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		TGGATGATGTCCTTCTCCTCC	0.582000													37	20					0	0	1	0	0
CXorf65	158830	broad.mit.edu	37	X	70325935	70325935	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chrX:70325935C>T	ENST00000374251.4	-	3	212	c.165G>A	c.(163-165)atG>atA	p.M55I	CXorf65_ENST00000485951.1_5'UTR			A6NEN9	CX065_HUMAN	chromosome X open reading frame 65	55										breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)	10						GATTGGGCTTCATCAGGAAAA	0.498000													42	10					0	0	1	0	0
HPR	3250	broad.mit.edu	37	16	72110207	72110207	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr16:72110207G>A	ENST00000540303.2	+	5	306	c.274G>A	c.(274-276)Ggg>Agg	p.G92R	HPR_ENST00000228226.8_Missense_Mutation_p.G129R|HPR_ENST00000561690.1_Missense_Mutation_p.G92R|HPR_ENST00000356967.5_Missense_Mutation_p.G92R	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	92					proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				GACAGTATGTGGGAAGCCCAA	0.547000													10	5					0	0	1	0	0
FAM129B	64855	broad.mit.edu	37	9	130270437	130270437	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr9:130270437G>A	ENST00000373312.3	-	12	1690	c.1477C>T	c.(1477-1479)Cgg>Tgg	p.R493W	FAM129B_ENST00000373314.3_Missense_Mutation_p.R480W|FAM129B_ENST00000468379.1_Intron	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	493							protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						AGCGCCTCCCGGAAGAACCTC	0.632000													57	72					0	0	1	0	0
PRSS45	377047	broad.mit.edu	37	3	46784427	46784427	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:46784427G>A	ENST00000442359.2	-	3	428	c.429C>T	c.(427-429)acC>acT	p.T143T	PRSS50_ENST00000460241.1_Intron	NM_199183.2	NP_954652.2	Q7RTY3	PRS45_HUMAN	protease, serine, 45	175	Peptidase S1.				proteolysis		serine-type endopeptidase activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						CCCCATAATTGGTGGCACAGA	0.542000													17	15					0	0	1	0	0
CAMK1G	57172	broad.mit.edu	37	1	209782415	209782415	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:209782415C>T	ENST00000009105.1	+	8	971	c.726C>T	c.(724-726)ttC>ttT	p.F242F	CAMK1G_ENST00000361322.2_Silent_p.F242F|CAMK1G_ENST00000494990.1_3'UTR			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	242	Protein kinase.					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		AGTCTCCATTCTGGGATGACA	0.478000													61	118					0	0	1	0	0
METRNL	284207	broad.mit.edu	37	17	81042985	81042985	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:81042985C>T	ENST00000571814.1	+	1	1037	c.96C>T	c.(94-96)tcC>tcT	p.S32S	METRNL_ENST00000320095.7_Silent_p.S114S|METRNL_ENST00000570778.1_Silent_p.S32S			Q641Q3	METRL_HUMAN	meteorin, glial cell differentiation regulator-like	114						extracellular region				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)		BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			TCACGGACTCCTCGGGGGCCA	0.592000													34	71					0	0	1	0	0
ASNA1	439	broad.mit.edu	37	19	12856446	12856446	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:12856446C>T	ENST00000591090.1	+	5	584	c.482C>T	c.(481-483)tCg>tTg	p.S161L	ASNA1_ENST00000357332.3_Missense_Mutation_p.S161L			O43681	ASNA_HUMAN	arsA arsenite transporter, ATP-binding, homolog 1 (bacterial)	161					response to arsenic-containing substance	endoplasmic reticulum|nucleolus|soluble fraction	arsenite-transporting ATPase activity|ATP binding|metal ion binding			endometrium(1)|lung(6)|ovary(3)	10					Adenosine triphosphate(DB00171)	ATGAACTTCTCGGTGGTGGTA	0.657000													51	50					0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122631187	122631187	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:122631187G>A	ENST00000195173.4	-	19	3028	c.2725C>T	c.(2725-2727)Cgg>Tgg	p.R909W	SEMA5B_ENST00000451055.2_Missense_Mutation_p.R964W|SEMA5B_ENST00000357599.3_Missense_Mutation_p.R910W			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	910					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CAAGCACCCCGAACTGCAAGG	0.647000													10	10					0	0	1	0	0
NXPH2	11249	broad.mit.edu	37	2	139428746	139428746	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:139428746C>T	ENST00000272641.3	-	2	647	c.541G>A	c.(541-543)Gaa>Aaa	p.E181K		NM_007226.2	NP_009157.1	O95156	NXPH2_HUMAN	neurexophilin 2	181	V (Cys-rich).				neuropeptide signaling pathway	extracellular region				endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		GATTTGGATTCCTTGGTCTCC	0.473000													14	25					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118377096	118377096	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:118377096G>A	ENST00000534358.1	+	27	10512	c.10489G>A	c.(10489-10491)Gga>Aga	p.G3497R	KMT2A_ENST00000354520.4_Missense_Mutation_p.G3456R|KMT2A_ENST00000389506.5_Missense_Mutation_p.G3494R	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		TAATAGCATGGGACTGGAGCA	0.542000													65	34					0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128341804	128341804	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:128341804G>A	ENST00000389524.4	+	13	1504	c.1451G>A	c.(1450-1452)tGg>tAg	p.W484*	MYO7B_ENST00000428314.1_Nonsense_Mutation_p.W484*|MYO7B_ENST00000409816.2_Nonsense_Mutation_p.W484*			Q6PIF6	MYO7B_HUMAN	myosin VIIB	484	Myosin head-like.					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)		AACATCTCCTGGGACTATATC	0.577000													36	44					0	0	1	0	0
ITGA9	3680	broad.mit.edu	37	3	37785448	37785448	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:37785448G>A	ENST00000264741.5	+	22	2612	c.2356G>A	c.(2356-2358)Gag>Aag	p.E786K		NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	786					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		TGTATATGGCGAGTCCGTGGA	0.512000													33	41					0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45860758	45860758	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr21:45860758G>A	ENST00000397928.1	+	31	4801	c.4356G>A	c.(4354-4356)caG>caA	p.Q1452Q	TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Silent_p.Q1398Q|TRPM2_ENST00000300482.5_Silent_p.Q1452Q|TRPM2_ENST00000397932.2_Silent_p.Q1502Q	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1452	Nudix hydrolase.					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TCCAGGACCAGAATGACGTGG	0.632000													44	93					0	0	1	0	0
OR2B3	442184	broad.mit.edu	37	6	29054860	29054860	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr6:29054860G>A	ENST00000377173.2	-	1	230	c.166C>T	c.(166-168)Cat>Tat	p.H56Y		NM_001005226.2	NP_001005226.1			olfactory receptor, family 2, subfamily B, member 3											breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						ATGGGAGTATGAAGTTTGGGA	0.393000													50	106					0	0	1	0	0
SPATA6	54558	broad.mit.edu	37	1	48764537	48764537	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:48764537G>A	ENST00000371847.3	-	13	1479	c.1315C>T	c.(1315-1317)Cat>Tat	p.H439Y	SPATA6_ENST00000396199.3_Missense_Mutation_p.H367Y|SPATA6_ENST00000371843.3_Missense_Mutation_p.H423Y	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	439					cell differentiation|multicellular organismal development|spermatogenesis	extracellular region				breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						TCATCCAAATGGAAAGTGCCA	0.398000													65	94					0	0	1	0	0
ARID5A	10865	broad.mit.edu	37	2	97216948	97216948	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:97216948C>T	ENST00000454558.2	+	7	1656	c.479C>T	c.(478-480)tCc>tTc	p.S160F	ARID5A_ENST00000357485.3_Missense_Mutation_p.S228F			Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	228					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						TCTTCTGTGTCCTTTGTGGGT	0.597000													39	66					0	0	1	0	0
THAP9	79725	broad.mit.edu	37	4	83839352	83839352	+	Missense_Mutation	SNP	A	A	G	rs140616270	byFrequency	TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr4:83839352A>G	ENST00000302236.5	+	5	2038	c.1987A>G	c.(1987-1989)Att>Gtt	p.I663V	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	663							DNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				TGACATTTCAATTGCTCGAAG	0.398000													31	74					0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2582822	2582822	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr20:2582822C>T	ENST00000358864.1	+	11	1303	c.1288C>T	c.(1288-1290)Cgt>Tgt	p.R430C	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	430						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						AAGATTTCTTCGTGTCCTGGC	0.388000													37	46					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190250829	190250829	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:190250829G>A	ENST00000367462.3	-	3	519	c.288C>T	c.(286-288)ttC>ttT	p.F96F	RP11-547I7.1_ENST00000452178.1_RNA|FAM5C_ENST00000484105.1_Intron|FAM5C_ENST00000534846.1_Intron	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		96						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GAGAGCCAAGGAAATTTCTTC	0.403000													27	51					0	0	1	0	0
OR6C75	390323	broad.mit.edu	37	12	55758928	55758928	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:55758928C>T	ENST00000343399.3	+	1	34	c.34C>T	c.(34-36)Ctt>Ttt	p.L12F		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						AGACTTTATTCTTCTTGGATT	0.343000													79	118					0	0	1	0	0
OR52B2	255725	broad.mit.edu	37	11	6191021	6191021	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:6191021G>A	ENST00000530810.1	-	1	617	c.536C>T	c.(535-537)tCc>tTc	p.S179F	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCACAGTAGGAGTGAGGAAC	0.488000													11	30					0	0	1	0	0
KDM6B	23135	broad.mit.edu	37	17	7749462	7749462	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:7749462C>T	ENST00000254846.5	+	6	692	c.303C>T	c.(301-303)ctC>ctT	p.L101L	KDM6B_ENST00000448097.2_Silent_p.L101L	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	101					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						AGGCATTGCTCCGGGAGCCAG	0.637000													12	26					0	0	1	0	0
AOAH	313	broad.mit.edu	37	7	36763662	36763662	+	Missense_Mutation	SNP	G	G	A	rs142388741		TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:36763662G>A	ENST00000431169.1	-	1	392	c.92C>T	c.(91-93)tCc>tTc	p.S31F	AOAH_ENST00000258749.5_Missense_Mutation_p.S31F|AOAH_ENST00000535891.1_Missense_Mutation_p.S31F	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	31					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						GCTGGGCCTGGACTGGTCATC	0.493000													24	28					0	0	1	0	0
GAB4	128954	broad.mit.edu	37	22	17468991	17468991	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr22:17468991G>A	ENST00000400588.1	-	3	652	c.545C>T	c.(544-546)tCc>tTc	p.S182F	GAB4_ENST00000523144.1_Intron	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	182										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				GTGCTGATGGGAGCAGCTGGG	0.602000													22	41					0	0	1	0	0
OPCML	4978	broad.mit.edu	37	11	132290185	132290185	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:132290185G>A	ENST00000331898.7	-	7	1518	c.940C>T	c.(940-942)Cct>Tct	p.P314S	OPCML_ENST00000524381.1_Missense_Mutation_p.P307S|OPCML_ENST00000541867.1_Missense_Mutation_p.P323S|OPCML_ENST00000374778.4_Missense_Mutation_p.P273S|OPCML_ENST00000529038.1_5'UTR	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	314					cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		ACTGCTCCAGGCCCTGTGTAG	0.502000													33	32					0	0	1	0	0
ZNF454	285676	broad.mit.edu	37	5	178392334	178392334	+	Missense_Mutation	SNP	T	T	G			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:178392334T>G	ENST00000320129.3	+	5	1232	c.929T>G	c.(928-930)gTg>gGg	p.V310G	ZNF454_ENST00000519564.1_Missense_Mutation_p.V310G	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	310					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|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)	all cancers(165;0.234)		AAAGCCTTTGTGTGCAGGGCA	0.378000													21	68					0	0	1	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51914469	51914469	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:51914469C>T	ENST00000353836.5	-	10	1914	c.1693G>A	c.(1693-1695)Gag>Aag	p.E565K	SIGLEC10_ENST00000441969.3_Missense_Mutation_p.E507K|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.E602K|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.E517K|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.E482K|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.E660K|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.E660K|SIGLEC10_ENST00000442846.3_Missense_Mutation_p.E417K|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.E475K	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	660					cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		TCTTGGCTCTCCTGGGATTCT	0.562000													91	116					0	0	1	0	0
NKD2	85409	broad.mit.edu	37	5	1033572	1033572	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:1033572C>T	ENST00000296849.5	+	5	517	c.288C>T	c.(286-288)cgC>cgT	p.R96R	NKD2_ENST00000537972.1_Silent_p.R96R|NKD2_ENST00000274150.4_Silent_p.R96R	NM_033120.2	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	96	Targeting to the basolateral cell membrane.				exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			CAGCAAACCGCGAGGGCCCGC	0.692000													5	12					0	0	1	0	0
ADPRHL1	113622	broad.mit.edu	37	13	114098849	114098849	+	Silent	SNP	G	G	A	rs138609269		TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr13:114098849G>A	ENST00000356501.4	-	2	199	c.24C>T	c.(22-24)atC>atT	p.I8I	ADPRHL1_ENST00000375418.3_Silent_p.I90I	NM_199162.1	NP_954631.1	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1	90					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			GCTTCTCAACGATTTCCACAT	0.547000													84	202					0	0	1	0	0
CBLN2	147381	broad.mit.edu	37	18	70205419	70205419	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr18:70205419G>A	ENST00000269503.4	-	5	1440	c.667C>T	c.(667-669)Cct>Tct	p.P223S	CBLN2_ENST00000585159.1_Missense_Mutation_p.P223S|CBLN2_ENST00000583651.1_5'UTR|CBLN2_ENST00000581073.1_Missense_Mutation_p.P109S|CBLN2_ENST00000584764.1_Missense_Mutation_p.P107S	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	223	C1q.					integral to membrane				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				GTTTATAGAGGAAACACCAAG	0.507000													46	14					0	0	1	0	0
MAPK8IP1	9479	broad.mit.edu	37	11	45924250	45924250	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:45924250C>T	ENST00000395629.2	+	5	1232	c.902C>T	c.(901-903)tCc>tTc	p.S301F	MAPK8IP1_ENST00000241014.2_Missense_Mutation_p.S311F			Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	311					vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		TCAGTCAGCTCCGATCCAGAC	0.672000													13	20					0	0	1	0	0
TJAP1	93643	broad.mit.edu	37	6	43466819	43466819	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr6:43466819G>A	ENST00000372444.2	+	5	513	c.80G>A	c.(79-81)gGa>gAa	p.G27E	TJAP1_ENST00000438588.2_Missense_Mutation_p.G27E|TJAP1_ENST00000436109.2_Missense_Mutation_p.G27E|TJAP1_ENST00000372445.5_Missense_Mutation_p.G27E|TJAP1_ENST00000372449.1_Missense_Mutation_p.G27E|TJAP1_ENST00000372452.1_Missense_Mutation_p.G27E|TJAP1_ENST00000483640.1_3'UTR|TJAP1_ENST00000259751.1_Missense_Mutation_p.G27E	NM_001146018.1	NP_001139490.1	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 (peripheral)	27						Golgi apparatus|tight junction	protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GAAATTCCTGGATCCCGGCTT	0.602000													23	46					0	0	1	0	0
OR1J2	26740	broad.mit.edu	37	9	125273352	125273352	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr9:125273352C>T	ENST00000335302.5	+	1	272	c.272C>T	c.(271-273)tCg>tTg	p.S91L		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S91L(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						AAGTACAAATCGATCCTCTAT	0.408000													48	80					0	0	1	0	0
TPTE2P2	644623	broad.mit.edu	37	13	52864092	52864092	+	RNA	SNP	A	A	G			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr13:52864092A>G	ENST00000451298.1	-	0	77				RP11-64P12.8_ENST00000606031.1_RNA																							AGCCACATCCAACAAGATCAG	0.299000													13	12					0	0	1	0	0
ARHGEF15	22899	broad.mit.edu	37	17	8215408	8215408	+	Silent	SNP	T	T	C			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:8215408T>C	ENST00000361926.3	+	2	161	c.51T>C	c.(49-51)ccT>ccC	p.P17P	ARHGEF15_ENST00000421050.1_Silent_p.P17P	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	17	Pro-rich.				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						AGAAGCCCCCTCGGATCATCC	0.627000													6	92					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55569128	55569128	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr10:55569128C>T	ENST00000395445.1	-	36	5076	c.4682G>A	c.(4681-4683)gGa>gAa	p.G1561E	PCDH15_ENST00000395442.1_Missense_Mutation_p.G426E|PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000395446.1_Missense_Mutation_p.G757E|PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395440.1_Missense_Mutation_p.G495E	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GTCAACGATTCCTCTTTTATC	0.428000										HNSCC(58;0.16)			27	92					0	0	1	0	0
BLZF1	8548	broad.mit.edu	37	1	169351352	169351352	+	Missense_Mutation	SNP	T	T	G			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:169351352T>G	ENST00000367808.3	+	6	1273	c.850T>G	c.(850-852)Tcc>Gcc	p.S284A	BLZF1_ENST00000329281.2_Missense_Mutation_p.S284A			Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1	284					cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					GCAAACTTACTCCCCTAGTGT	0.423000													58	100					0	0	1	0	0
ZFP42	132625	broad.mit.edu	37	4	188924867	188924867	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr4:188924867G>A	ENST00000326866.4	+	4	1314	c.906G>A	c.(904-906)acG>acA	p.T302T	ZFP42_ENST00000509524.1_Silent_p.T302T	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	302					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		ATGCAAATACGAACAAGAATG	0.428000													8	59					0	0	1	0	0
WDR72	256764	broad.mit.edu	37	15	53908026	53908026	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr15:53908026C>T	ENST00000396328.1	-	15	2616	c.2377G>A	c.(2377-2379)Gac>Aac	p.D793N	WDR72_ENST00000559418.1_Missense_Mutation_p.D803N|WDR72_ENST00000360509.5_Missense_Mutation_p.D793N|WDR72_ENST00000557913.1_Missense_Mutation_p.D790N	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	793										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TTTGCTGTGTCTATTGTGAGA	0.373000													120	72					0	0	1	0	0
PPARGC1B	133522	broad.mit.edu	37	5	149216068	149216068	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:149216068C>T	ENST00000309241.5	+	8	2082	c.2050C>T	c.(2050-2052)Ccc>Tcc	p.P684S	PPARGC1B_ENST00000394320.3_Missense_Mutation_p.P684S|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.P620S|PPARGC1B_ENST00000360453.4_Missense_Mutation_p.P645S	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	684					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	p.P684S(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CCAGAAGCGTCCCTTCTCCTG	0.622000													76	70					0	0	1	0	0
MYBBP1A	10514	broad.mit.edu	37	17	4443224	4443224	+	Missense_Mutation	SNP	G	G	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:4443224G>T	ENST00000254718.4	-	26	3779	c.3473C>A	c.(3472-3474)cCc>cAc	p.P1158H	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.P1158H			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	1158	Required for nuclear and nucleolar localization (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						GGTGGCACTGGGGATCTCCTT	0.577000													77	133					1.42074e-37	1.47102e-37	1	1	0
KIAA0895L	653319	broad.mit.edu	37	16	67211966	67211966	+	Missense_Mutation	SNP	T	T	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr16:67211966T>A	ENST00000290881.7	-	7	2124	c.1198A>T	c.(1198-1200)Att>Ttt	p.I400F	KIAA0895L_ENST00000561621.1_Silent_p.A396A|KIAA0895L_ENST00000563902.1_Missense_Mutation_p.I400F|KIAA0895L_ENST00000561679.1_Missense_Mutation_p.I245F|KIAA0895L_ENST00000563831.2_Intron			Q68EN5	K895L_HUMAN	KIAA0895-like	400										breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						TGTCGCAGAATGCGCACGATG	0.662000													19	9					0	0	1	0	0
MPP1	4354	broad.mit.edu	37	X	154009980	154009980	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chrX:154009980G>A	ENST00000413259.3	-	11	1346	c.954C>T	c.(952-954)ttC>ttT	p.F318F	MPP1_ENST00000369534.3_Silent_p.F348F|MPP1_ENST00000393531.1_Silent_p.F328F	NM_001166462.1	NP_001159934.1	Q00013	EM55_HUMAN	membrane protein, palmitoylated 1, 55kDa	348	Guanylate kinase-like.|Interaction with MPP5.				regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding	p.F348F(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CAAACTCCAAGAACTCATTGG	0.478000													126	55					0	0	1	0	0
APBA1	320	broad.mit.edu	37	9	72130978	72130978	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr9:72130978C>T	ENST00000265381.4	-	2	1371	c.1149G>A	c.(1147-1149)caG>caA	p.Q383Q		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	383	LIN-2/CASK binding.|Pro-rich.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GGCTAATGTCCTGGCGCATGA	0.617000													78	25					0	0	1	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37534725	37534725	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr20:37534725C>T	ENST00000299824.1	+	7	999	c.810C>T	c.(808-810)gcC>gcT	p.A270A	PPP1R16B_ENST00000373331.2_Intron	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	270					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				ATGCAGCTGCCTTCTGGGGAC	0.597000													32	49					0	0	1	0	0
SCYL1	57410	broad.mit.edu	37	11	65304507	65304507	+	Missense_Mutation	SNP	G	G	C			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:65304507G>C	ENST00000524944.1	+	14	1900	c.1867G>C	c.(1867-1869)Ggc>Cgc	p.G623R	SCYL1_ENST00000527009.1_Missense_Mutation_p.G480R|SCYL1_ENST00000420247.2_Splice_Site|SCYL1_ENST00000527630.1_Splice_Site|SCYL1_ENST00000533862.1_Missense_Mutation_p.G623R|SCYL1_ENST00000270176.5_Missense_Mutation_p.G623R|SCYL1_ENST00000525364.1_Missense_Mutation_p.G623R|SCYL1_ENST00000279270.6_Missense_Mutation_p.G623R			Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	623					regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			ovary(1)|skin(1)	2						TACAACCTCAGGCCACTGGGA	0.642000													6	68					0	0	1	0	0
FBLN2	2199	broad.mit.edu	37	3	13670534	13670534	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:13670534G>A	ENST00000404922.3	+	12	2818	c.2699G>A	c.(2698-2700)gGg>gAg	p.G900E	FBLN2_ENST00000295760.7_Missense_Mutation_p.G853E|FBLN2_ENST00000535798.1_Missense_Mutation_p.G879E|FBLN2_ENST00000492059.1_Missense_Mutation_p.G900E	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	896	EGF-like 6; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			AGCGATGATGGGACCAAGTGT	0.687000													13	24					0	0	1	0	0
ZNFX1	57169	broad.mit.edu	37	20	47855834	47855834	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr20:47855834G>A	ENST00000371754.4	-	15	3883	c.3430C>T	c.(3430-3432)Ctc>Ttc	p.L1144F	DDX27_ENST00000371764.4_Missense_Mutation_p.R650K|ZNFX1_ENST00000469991.1_5'UTR|DDX27_ENST00000484427.1_3'UTR			Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	0							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GAGCCCGAGAGGAGCTGGTTC	0.507000													17	22					0	0	1	0	0
ETS1	2113	broad.mit.edu	37	11	128359223	128359223	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:128359223C>T	ENST00000392668.3	-	5	565	c.497G>A	c.(496-498)gGg>gAg	p.G166E	ETS1_ENST00000526145.1_Missense_Mutation_p.G122E|ETS1_ENST00000345075.4_Missense_Mutation_p.G122E|ETS1_ENST00000535549.1_Intron|ETS1_ENST00000531611.1_Missense_Mutation_p.G122E|ETS1_ENST00000319397.5_Missense_Mutation_p.G122E	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	122					cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		TAAGATGTCCCCAACAAAGTC	0.502000													100	127					0	0	1	0	0
GPATCH1	55094	broad.mit.edu	37	19	33604797	33604797	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:33604797C>T	ENST00000170564.2	+	14	2331	c.2017C>T	c.(2017-2019)Cga>Tga	p.R673*		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	673						catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					ATCACAGCACCGAGGTCCCGA	0.522000													18	22					0	0	1	0	0
HMGCS2	3158	broad.mit.edu	37	1	120306804	120306804	+	Missense_Mutation	SNP	A	A	C			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:120306804A>C	ENST00000369406.3	-	2	599	c.550T>G	c.(550-552)Tcc>Gcc	p.S184A	HMGCS2_ENST00000476640.1_5'UTR|HMGCS2_ENST00000544913.2_Missense_Mutation_p.S184A	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	184					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		CCATCCCAGGAACTGGACTCC	0.493000													37	44					0	0	1	0	0
CNOT2	4848	broad.mit.edu	37	12	70724135	70724135	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:70724135C>T	ENST00000229195.3	+	6	1034	c.455C>T	c.(454-456)cCt>cTt	p.P152L	CNOT2_ENST00000548230.1_3'UTR|CNOT2_ENST00000418359.3_Missense_Mutation_p.P152L	NM_014515.5	NP_055330.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	152					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			ATTGGAATTCCTAGCAGGACA	0.453000													58	74					0	0	1	0	0
MTMR3	8897	broad.mit.edu	37	22	30419444	30419444	+	Splice_Site	SNP	A	A	G			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr22:30419444A>G	ENST00000333027.3	+	19	3642		c.e19-1		CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000406629.1_Splice_Site|MTMR3_ENST00000323630.5_Intron|MTMR3_ENST00000401950.2_Intron|MTMR3_ENST00000351488.3_Intron	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3						phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			CCCTCCTTGCAGGGACACTGA	0.478000													39	67					0	0	1	0	0
ESRRB	2103	broad.mit.edu	37	14	76906068	76906068	+	Missense_Mutation	SNP	G	G	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:76906068G>T	ENST00000380887.2	+	2	444	c.372G>T	c.(370-372)aaG>aaT	p.K124N	ESRRB_ENST00000261532.7_Missense_Mutation_p.K124N|ESRRB_ENST00000556177.1_Missense_Mutation_p.K124N|ESRRB_ENST00000509242.1_Missense_Mutation_p.K124N|ESRRB_ENST00000507951.1_3'UTR			A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	124						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)		AGGCTTGCAAGGCCTTCTTCA	0.657000													18	23					0.00074312	0.000747707	1	1	0
CRYBA4	1413	broad.mit.edu	37	22	27021580	27021580	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr22:27021580C>T	ENST00000354760.3	+	4	329	c.294C>T	c.(292-294)gcC>gcT	p.A98A	CRYBA4_ENST00000466315.1_3'UTR	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	98	Beta/gamma crystallin 'Greek key' 2.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						GGCCTGCGGCCTGTGCTGTAA	0.597000													78	119					0	0	1	0	0
COL6A1	1291	broad.mit.edu	37	21	47410319	47410319	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr21:47410319G>A	ENST00000361866.3	+	13	1099	c.985G>A	c.(985-987)Ggg>Agg	p.G329R		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	329	Triple-helical region.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	TGGCATCGACGGGGTGGACGG	0.652000													12	32					0	0	1	0	0
RANBP3	8498	broad.mit.edu	37	19	5933471	5933471	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:5933471G>A	ENST00000340578.6	-	6	483	c.426C>T	c.(424-426)ttC>ttT	p.F142F	RANBP3_ENST00000034275.8_Silent_p.F74F|RANBP3_ENST00000541471.1_Silent_p.F14F|RANBP3_ENST00000591092.1_Silent_p.F74F|RANBP3_ENST00000591124.1_5'UTR|RANBP3_ENST00000439268.2_Silent_p.F142F	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3	142					intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						GCTTCAACCGGAAGCCACTGC	0.617000													31	40					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124272495	124272495	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:124272495C>T	ENST00000409039.3	+	10	1408	c.1383C>T	c.(1381-1383)ttC>ttT	p.F461F		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	461	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGCGGCTGTTCGAGAGGACGG	0.597000													3	2					0	0	1	0	0
PRSS1	5644	broad.mit.edu	37	7	142459847	142459847	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:142459847C>T	ENST00000486171.1	+	4	482	c.465C>T	c.(463-465)atC>atT	p.I155I	PRSS1_ENST00000311737.7_Silent_p.I141I			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	141	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			AGTGCCTCATCTCTGGCTGGG	0.567000													47	77					0	0	1	0	0
NPAS4	266743	broad.mit.edu	37	11	66190156	66190156	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:66190156C>T	ENST00000311034.2	+	4	618	c.442C>T	c.(442-444)Cgc>Tgc	p.R148C		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	148					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						TCGCCTCTTCCGCTGCCGCTT	0.547000													22	56					0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28823695	28823695	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:28823695C>T	ENST00000422425.2	+	35	2505	c.2461C>T	c.(2461-2463)Caa>Taa	p.Q821*	PLB1_ENST00000327757.5_Nonsense_Mutation_p.Q832*	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	832	4 X 308-326 AA approximate repeats.		G -> R (in dbSNP:rs10201128).		lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GAGCCAAGTCCAaactctgat	0.418000													40	45					0	0	1	0	0
PCDHGA4	56111	broad.mit.edu	37	5	140736453	140736453	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:140736453C>T	ENST00000571252.1	+	1	1686	c.1686C>T	c.(1684-1686)atC>atT	p.I562I	PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCCTGAGATCCTGTACCCCA	0.582000													61	401					0	0	1	0	0
ASAP2	8853	broad.mit.edu	37	2	9520891	9520891	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:9520891C>T	ENST00000281419.3	+	20	2310	c.1970C>T	c.(1969-1971)cCg>cTg	p.P657L	ASAP2_ENST00000315273.4_Missense_Mutation_p.P657L	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	657					regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						GGAGAGACTCCGCTGGACATT	0.562000													71	102					0	0	1	0	0
ADCK4	79934	broad.mit.edu	37	19	41206336	41206336	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:41206336G>A	ENST00000324464.3	-	11	1215	c.914C>T	c.(913-915)cCc>cTc	p.P305L	ADCK4_ENST00000450541.1_Missense_Mutation_p.P264L|ADCK4_ENST00000243583.6_Missense_Mutation_p.P264L	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	305	Protein kinase.					integral to membrane	protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			CCGGAAGAAGGGGTCATTTGC	0.632000													13	23					0	0	1	0	0
YTHDF2	51441	broad.mit.edu	37	1	29069261	29069261	+	Nonsense_Mutation	SNP	T	T	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:29069261T>A	ENST00000373812.3	+	4	841	c.479T>A	c.(478-480)tTa>tAa	p.L160*	YTHDF2_ENST00000542507.1_Nonsense_Mutation_p.L160*|YTHDF2_ENST00000541996.1_Nonsense_Mutation_p.L110*|YTHDF2_ENST00000478283.1_3'UTR	NM_016258.2	NP_057342.2	Q9Y5A9	YTHD2_HUMAN	YTH domain family, member 2	160					humoral immune response					NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		CCTAGCTCCTTAGGTGGAGCC	0.468000													53	26					0	0	1	0	0
SGSM1	129049	broad.mit.edu	37	22	25294296	25294296	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr22:25294296G>A	ENST00000400358.4	+	19	2437	c.2380G>A	c.(2380-2382)Gag>Aag	p.E794K	SGSM1_ENST00000400359.4_Missense_Mutation_p.E849K	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	849	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						GAGCATGGACGAGTTCATGTC	0.617000													25	47					0	0	1	0	0
TTC21A	199223	broad.mit.edu	37	3	39170406	39170406	+	Missense_Mutation	SNP	C	C	G			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:39170406C>G	ENST00000301819.6	+	14	2080	c.1903C>G	c.(1903-1905)Cgg>Ggg	p.R635G	TTC21A_ENST00000431162.2_Missense_Mutation_p.R634G|TTC21A_ENST00000440121.1_Missense_Mutation_p.R586G	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	634							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)		GGAGGCCCTCCGGCTGAATGG	0.572000													34	39					0	0	1	0	0
TMC7	79905	broad.mit.edu	37	16	19070893	19070893	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr16:19070893G>A	ENST00000569532.1	+	15	2313	c.2183G>A	c.(2182-2184)tGg>tAg	p.W728*	TMC7_ENST00000304381.5_Intron|TMC7_ENST00000421369.3_Intron			Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	117						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						CTGTTTTCCTGGGAGGGAGTG	0.537000													11	3					0	0	1	0	0
OR52B4	143496	broad.mit.edu	37	11	4389419	4389419	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:4389419G>A	ENST00000408920.2	-	1	197	c.107C>T	c.(106-108)tCc>tTc	p.S36F		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGTGACATAGGAAATGAAGAA	0.517000													24	31					0	0	1	0	0
LBP	3929	broad.mit.edu	37	20	36993331	36993331	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr20:36993331G>A	ENST00000217407.2	+	8	1007	c.846G>A	c.(844-846)tcG>tcA	p.S282S		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	282					acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				TTGCCATCTCGGATTATGTCT	0.473000													78	102					0	0	1	0	0
CYP4F12	66002	broad.mit.edu	37	19	15807291	15807291	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:15807291C>T	ENST00000550308.1	+	12	1746	c.1366C>T	c.(1366-1368)Ctg>Ttg	p.L456L	CYP4F12_ENST00000324632.9_Silent_p.L456L	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)					GAGGTCACCTCTGGCTTTTAT	0.557000													103	144					0	0	1	0	0
PRKCD	5580	broad.mit.edu	37	3	53223127	53223127	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:53223127C>T	ENST00000394729.2	+	16	1936	c.1608C>T	c.(1606-1608)gtC>gtT	p.V536V	PRKCD_ENST00000330452.3_Silent_p.V536V	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	536	Protein kinase.				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		CTTTCGGGGTCCTTCTGTACG	0.572000													11	32					0	0	1	0	0
C2CD3	26005	broad.mit.edu	37	11	73748721	73748721	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:73748721G>A	ENST00000334126.7	-	30	5909	c.5683C>T	c.(5683-5685)Cag>Tag	p.Q1895*	C2CD3_ENST00000313663.7_Nonsense_Mutation_p.Q1895*			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1895						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					CTCTGAATCTGATCAAGCTCA	0.488000													6	25					0	0	1	0	0
CEACAM16	388551	broad.mit.edu	37	19	45206902	45206902	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:45206902C>T	ENST00000587331.1	+	3	536	c.321C>T	c.(319-321)atC>atT	p.I107I	CEACAM16_ENST00000405314.2_Silent_p.I107I|CTB-171A8.1_ENST00000590796.1_RNA	NM_001039213.2	NP_001034302.2	A7LI12	A7LI12_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 16	107										endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				GCACCTACATCCTGCAGACCT	0.677000													8	7					0	0	1	0	0
RPF1	80135	broad.mit.edu	37	1	84945089	84945089	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:84945089C>T	ENST00000370654.5	+	1	140	c.125C>T	c.(124-126)cCc>cTc	p.P42L	RPF1_ENST00000370656.1_Missense_Mutation_p.P42L	NM_025065.6	NP_079341.2	Q9H9Y2	RPF1_HUMAN	ribosome production factor 1 homolog (S. cerevisiae)	42					rRNA processing|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|rRNA binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1)	14						GGGGTCCAACCCCCGAAAGCG	0.572000													27	56					0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61687571	61687571	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr16:61687571G>A	ENST00000577390.1	-	12	3295	c.2341C>T	c.(2341-2343)Ccc>Tcc	p.P781S	CDH8_ENST00000577730.1_Intron|CDH8_ENST00000299345.6_Intron	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	781					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TTAAAGCGGGGACCCCAGTCA	0.488000													47	14					0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42482945	42482945	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:42482945G>A	ENST00000545399.1	-	12	1635	c.1482C>T	c.(1480-1482)tcC>tcT	p.S494S	ATP1A3_ENST00000302102.5_Silent_p.S481S|ATP1A3_ENST00000602133.1_Silent_p.S451S|ATP1A3_ENST00000543770.1_Silent_p.S492S	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	481					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						TCTCATGGATGGAGAGCTGGG	0.652000													38	44					0	0	1	0	0
TRBV3-1	28619	broad.mit.edu	37	7	142008762	142008762	+	RNA	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:142008762G>A	ENST00000390387.3	+	0	282																											AAATGAAACAGTTCCAAATCG	0.378000													64	80					0	0	1	0	0
FBXO3	26273	broad.mit.edu	37	11	33795990	33795990	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:33795990G>A	ENST00000530401.1	-	1	74	c.54C>T	c.(52-54)acC>acT	p.T18T	FBXO3_ENST00000534136.1_Silent_p.T18T|FBXO3_ENST00000265651.3_Silent_p.T18T|FBXO3_ENST00000448981.2_Silent_p.T18T			Q9UK99	FBX3_HUMAN	F-box protein 3	18	F-box.				proteolysis	nucleus	ubiquitin-protein ligase activity			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		GCAGGGGATCGGTGGGCAGCG	0.657000													4	14					0	0	1	0	0
CDH11	1009	broad.mit.edu	37	16	65022098	65022098	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr16:65022098C>T	ENST00000394156.3	-	7	1414	c.961G>A	c.(961-963)Gac>Aac	p.D321N	CDH11_ENST00000268603.4_Missense_Mutation_p.D321N|CDH11_ENST00000566827.1_Missense_Mutation_p.D195N			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	321	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GTTTCATAGTCCGTTGTGATT	0.438000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			92	42					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152688434	152688434	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr6:152688434C>T	ENST00000367255.5	-	62	10492	c.9891G>A	c.(9889-9891)acG>acA	p.T3297T	SYNE1_ENST00000448038.1_Silent_p.T3304T|SYNE1_ENST00000423061.1_Silent_p.T3304T|SYNE1_ENST00000341594.5_Silent_p.T3336T|SYNE1_ENST00000265368.4_Silent_p.T3297T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3297					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GAATCGCATCCGTCATCCAGT	0.458000										HNSCC(10;0.0054)			103	26					0	0	1	0	0
SFTPB	6439	broad.mit.edu	37	2	85893848	85893848	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:85893848G>A	ENST00000393822.3	-	5	420	c.321C>T	c.(319-321)ttC>ttT	p.F107F	SFTPB_ENST00000409383.1_Silent_p.F107F|SFTPB_ENST00000519937.2_Silent_p.F95F|SFTPB_ENST00000342375.3_Silent_p.F95F			P07988	PSPB_HUMAN	surfactant protein B	95	Saposin B-type 1.				organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						CCTGCTCCAGGAACTTCCTCA	0.622000													90	116					0	0	1	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47564925	47564925	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:47564925G>A	ENST00000334194.3	+	8	1039	c.1036G>A	c.(1036-1038)Gaa>Aaa	p.E346K	CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	346						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						TGAAATCAGGGAACTCCTAGG	0.448000													26	25					0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28970753	28970753	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr18:28970753G>A	ENST00000359747.4	+	6	681	c.652G>A	c.(652-654)Gtc>Atc	p.V218I	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.V218I|RP11-534N16.1_ENST00000581452.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	218	Cadherin 2.		Missing (in LAH1).		homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CACTGGAGAAGTCTGCACCAT	0.383000													17	3					0	0	1	0	0
ZPLD1	131368	broad.mit.edu	37	3	102183090	102183090	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:102183090C>T	ENST00000306176.1	+	7	904	c.804C>T	c.(802-804)ttC>ttT	p.F268F	ZPLD1_ENST00000466937.1_Silent_p.F252F|ZPLD1_ENST00000491959.1_Silent_p.F252F	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	252	ZP.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						ATGATCTTTTCCTTAGGTAAG	0.313000													36	39					0	0	1	0	0
GNAI2	2771	broad.mit.edu	37	3	50293693	50293693	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:50293693C>T	ENST00000313601.6	+	5	918	c.534C>T	c.(532-534)acC>acT	p.T178T	GNAI2_ENST00000536647.1_Silent_p.T97T|GNAI2_ENST00000440628.1_Silent_p.T126T|GNAI2_ENST00000266027.5_Silent_p.T162T|GNAI2_ENST00000422163.1_Silent_p.T162T|GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000451956.1_Silent_p.T141T	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2	178					adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		TGCTACGGACCCGCGTAAAGA	0.597000													38	40					0	0	1	0	0
CYYR1	116159	broad.mit.edu	37	21	27938585	27938585	+	Splice_Site	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr21:27938585G>A	ENST00000299340.4	-	2	519	c.176_splice	c.e2+1	p.S59_splice	CYYR1_ENST00000435845.2_Splice_Site_p.S167_splice|CYYR1_ENST00000400043.3_Splice_Site_p.S59_splice|AP001597.1_ENST00000357401.3_RNA	NM_052954.2	NP_443186.1	Q96J86	CYYR1_HUMAN	cysteine/tyrosine-rich 1	59						integral to membrane				large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						GAATACTCACGAGAGGATATT	0.433000													10	22					0	0	1	0	0
KHNYN	23351	broad.mit.edu	37	14	24901602	24901602	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:24901602C>T	ENST00000251343.5	+	3	1274	c.1135C>T	c.(1135-1137)Cgg>Tgg	p.R379W	KHNYN_ENST00000556842.1_Missense_Mutation_p.R379W|KHNYN_ENST00000553935.1_Missense_Mutation_p.R379W			O15037	KHNYN_HUMAN	KH and NYN domain containing	379										kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						CTGCGGAGACCGGGGAGACGT	0.687000											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	36					0	0	1	0	0
NOX3	50508	broad.mit.edu	37	6	155732402	155732402	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr6:155732402C>T	ENST00000159060.2	-	11	1503	c.1401G>A	c.(1399-1401)ggG>ggA	p.G467G		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	467							electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		AGTGAGTTTTCCCCTGCTCAC	0.423000													38	9					0	0	1	0	0
GPC5	2262	broad.mit.edu	37	13	92345849	92345849	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr13:92345849C>T	ENST00000377067.3	+	3	1106	c.734C>T	c.(733-735)tCc>tTc	p.S245F		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	245				S -> F (in Ref. 2; AAC12261).		anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CTGCACTTCTCCAAAGAGTGC	0.547000													30	26					0	0	1	0	0
WDR33	55339	broad.mit.edu	37	2	128471489	128471489	+	Silent	SNP	A	A	C			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:128471489A>C	ENST00000322313.4	-	18	3134	c.2976T>G	c.(2974-2976)ggT>ggG	p.G992G		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	992					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		AGTCCTGGCCACCCCGGAAAG	0.662000													14	150					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16257608	16257608	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:16257608G>T	ENST00000375759.3	+	11	5077	c.4873G>T	c.(4873-4875)Gag>Tag	p.E1625*		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1625					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		ATCTGCTCCTGAGAATAAAGA	0.453000													91	44					5.50736e-56	5.71784e-56	1	1	0
CT47B1	643311	broad.mit.edu	37	X	120009153	120009153	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chrX:120009153G>A	ENST00000371311.3	-	1	626	c.372C>T	c.(370-372)ttC>ttT	p.F124F		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	124										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						CCAGGTACAGGAACACGAAGC	0.652000													29	18					0	0	1	0	0
GPR128	84873	broad.mit.edu	37	3	100374001	100374001	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:100374001C>T	ENST00000273352.3	+	12	1970	c.1702C>T	c.(1702-1704)Ctt>Ttt	p.L568F	GPR128_ENST00000481506.1_3'UTR|GPR128_ENST00000475887.1_Missense_Mutation_p.L273F	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	568					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						GCATTTCATTCTTTTCATCTC	0.388000													31	64					0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20799776	20799776	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:20799776G>A	ENST00000359062.3	+	12	2497	c.2457G>A	c.(2455-2457)ggG>ggA	p.G819G	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	819	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	GTCTGTCTGGGAATATCCCTG	0.433000													68	108					0	0	1	0	0
OR5M9	390162	broad.mit.edu	37	11	56230398	56230398	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:56230398C>T	ENST00000279791.1	-	1	479	c.480G>A	c.(478-480)tgG>tgA	p.W160*		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					AGCCATAAGTCCATAGTGTGC	0.438000													40	61					0	0	1	0	0
AOAH	313	broad.mit.edu	37	7	36763661	36763661	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:36763661G>A	ENST00000431169.1	-	1	393	c.93C>T	c.(91-93)tcC>tcT	p.S31S	AOAH_ENST00000258749.5_Silent_p.S31S|AOAH_ENST00000535891.1_Silent_p.S31S	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	31					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						GGCTGGGCCTGGACTGGTCAT	0.498000													25	25					0	0	1	0	0
FHDC1	85462	broad.mit.edu	37	4	153896810	153896810	+	Silent	SNP	C	C	T	rs138008286	byFrequency	TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr4:153896810C>T	ENST00000511601.1	+	12	2555	c.2367C>T	c.(2365-2367)acC>acT	p.T789T	FHDC1_ENST00000260008.3_Silent_p.T789T			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	789					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)					CAGAGGGAACCGACTCCAGAC	0.612000													59	66					0	0	1	0	0
ZNF28	7576	broad.mit.edu	37	19	53303099	53303099	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:53303099C>T	ENST00000438150.2	-	2	2733	c.1840G>A	c.(1840-1842)Gaa>Aaa	p.E614K	ZNF28_ENST00000457749.2_Missense_Mutation_p.E667K|ZNF28_ENST00000414252.2_Missense_Mutation_p.E614K|ZNF28_ENST00000360272.4_Missense_Mutation_p.E614K			P17035	ZNF28_HUMAN	zinc finger protein 28	667					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TTGCCACATTCATTACACTTG	0.423000													58	111					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628300	29628300	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr20:29628300G>A	ENST00000278882.3	+	6	682	c.302G>A	c.(301-303)aGt>aAt	p.S101N	FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N														p.S101N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAGCAAAAAGTAAAACAGCA	0.358000													6	129					0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	62055071	62055071	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr16:62055071C>T	ENST00000577390.1	-	2	1191	c.237G>A	c.(235-237)ccG>ccA	p.P79P	CDH8_ENST00000577730.1_Silent_p.P79P|CDH8_ENST00000299345.6_Silent_p.P79P|CDH8_ENST00000584337.1_Silent_p.P79P	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	79	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CAACAAGAATCGGTTCAGGTC	0.408000													32	19					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20959930	20959930	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr16:20959930C>T	ENST00000261383.3	-	57	11217	c.11218G>A	c.(11218-11220)Gat>Aat	p.D3740N	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3740					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCTTTGTCATCAGTCACTCTG	0.498000													14	15					0	0	1	0	0
BRINP2	57795	broad.mit.edu	37	1	177250406	177250406	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:177250406G>A	ENST00000361539.4	+	8	2406	c.2094G>A	c.(2092-2094)cgG>cgA	p.R698R	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		698						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						ATGCTATCCGGGACTTAATTC	0.498000													71	107					0	0	1	0	0
CLEC4E	26253	broad.mit.edu	37	12	8687402	8687402	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:8687402G>A	ENST00000299663.3	-	6	657	c.492C>T	c.(490-492)ttC>ttT	p.F164F	CLEC4E_ENST00000545274.1_Silent_p.F119F|CLEC4E_ENST00000446457.2_3'UTR	NM_014358.2	NP_055173.1	Q9ULY5	CLC4E_HUMAN	C-type lectin domain family 4, member E	164	C-type lectin.					integral to membrane	sugar binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					CTACATCCCAGAAGCTGAAAA	0.408000													29	48					0	0	1	0	0
ZNF846	162993	broad.mit.edu	37	19	9869117	9869117	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:9869117G>A	ENST00000397902.2	-	6	1049	c.636C>T	c.(634-636)tcC>tcT	p.S212S	ZNF846_ENST00000592859.1_Silent_p.S83S|ZNF846_ENST00000588267.1_Silent_p.S83S|ZNF846_ENST00000586293.1_3'UTR	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	212					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						GTAACTTAAGGGATGACTGAT	0.368000													28	44					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857636	9857636	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr16:9857636C>T	ENST00000396573.2	-	14	4074	c.3765G>A	c.(3763-3765)caG>caA	p.Q1255Q	GRIN2A_ENST00000404927.2_Silent_p.Q1255Q|GRIN2A_ENST00000396575.2_Silent_p.Q1255Q|GRIN2A_ENST00000330684.3_Silent_p.Q1255Q|GRIN2A_ENST00000535259.1_Silent_p.Q1098Q|GRIN2A_ENST00000562109.1_Silent_p.Q1255Q	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1255					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TACCTGTCTCCTGAAGCATCT	0.542000													28	15					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139410090	139410090	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr9:139410090C>T	ENST00000277541.6	-	11	1823	c.1748G>A	c.(1747-1749)gGc>gAc	p.G583D		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	583	EGF-like 15; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGTGGCGACGCCGTCCTTGCA	0.701000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			11	13					0	0	1	0	0
EIF4ENIF1	56478	broad.mit.edu	37	22	31859912	31859912	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr22:31859912G>A	ENST00000397525.1	-	5	563	c.340C>T	c.(340-342)Ctc>Ttc	p.L114F	RP11-247I13.11_ENST00000464523.1_RNA|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.L114F|EIF4ENIF1_ENST00000344710.5_Intron|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.L114F|RP11-247I13.11_ENST00000483736.1_RNA|RP11-247I13.8_ENST00000439588.1_RNA	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	114				L -> F (in Ref. 1; AAF81693).		nucleus	protein binding|protein transporter activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGAGGGCTGAGAACAACATCT	0.498000													41	61					0	0	1	0	0
AGTPBP1	23287	broad.mit.edu	37	9	88204514	88204514	+	Missense_Mutation	SNP	C	C	G			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr9:88204514C>G	ENST00000357081.3	-	20	2795	c.2651G>C	c.(2650-2652)gGa>gCa	p.G884A	AGTPBP1_ENST00000376083.3_Missense_Mutation_p.G844A|AGTPBP1_ENST00000432218.1_Intron|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.G896A			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	884					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						GCAGCTGTTTCCAGACAGGGT	0.368000													47	20					0	0	1	0	0
FAM111B	374393	broad.mit.edu	37	11	58892779	58892779	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:58892779G>A	ENST00000343597.3	+	4	1400	c.1209G>A	c.(1207-1209)ccG>ccA	p.P403P	FAM111B_ENST00000411426.1_Silent_p.P373P|FAM111B_ENST00000529618.1_Silent_p.P373P	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	403							catalytic activity	p.P403P(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						ATCAGTATCCGAATTTTAAAG	0.358000													55	86					0	0	1	0	0
GALNT5	11227	broad.mit.edu	37	2	158142597	158142597	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:158142597G>A	ENST00000259056.4	+	3	2177	c.1692G>A	c.(1690-1692)gaG>gaA	p.E564E		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)	564	Catalytic subdomain A.				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						GCCTCAAAGAGAGACATGGCT	0.343000													17	26					0	0	1	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140720735	140720735	+	Missense_Mutation	SNP	A	A	G			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:140720735A>G	ENST00000394576.2	+	1	2197	c.2197A>G	c.(2197-2199)Aca>Gca	p.T733A	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCAGCTTGACAGGCATGCA	0.637000													57	129					0	0	1	0	0
JDP2	122953	broad.mit.edu	37	14	75904815	75904815	+	Silent	SNP	G	G	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:75904815G>T	ENST00000435893.2	+	2	465	c.192G>T	c.(190-192)gtG>gtT	p.V64V	JDP2_ENST00000419727.2_Silent_p.V64V|JDP2_ENST00000267569.5_Silent_p.V75V|JDP2_ENST00000559773.1_3'UTR|JDP2_ENST00000437176.1_Silent_p.V64V	NM_001135047.1|NM_130469.3	NP_001128519.1|NP_569736.1	Q8WYK2	JDP2_HUMAN	Jun dimerization protein 2	64						nucleus	sequence-specific DNA binding			lung(2)	2				BRCA - Breast invasive adenocarcinoma(234;0.0296)		CCCAGCCCGTGAAAAGTGAGG	0.562000													5	9					5.9392e-07	6.00765e-07	1	1	0
PLEKHM1P	440456	broad.mit.edu	37	17	62796645	62796645	+	RNA	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:62796645G>A	ENST00000582986.1	-	0	1275					NR_024386.1																						CAGGTCTGAGGGAGAGAGGCA	0.657000													44	67					0	0	1	0	0
ZNF233	353355	broad.mit.edu	37	19	44777326	44777326	+	Missense_Mutation	SNP	T	T	G			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:44777326T>G	ENST00000391958.2	+	5	640	c.513T>G	c.(511-513)aaT>aaG	p.N171K	ZNF233_ENST00000592581.1_3'UTR|ZNF233_ENST00000334152.1_Intron|ZNF235_ENST00000589799.1_Intron	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				GCATAAAAAATCAAGAGCTTC	0.408000													33	58					0	0	1	0	0
RGS12	6002	broad.mit.edu	37	4	3441340	3441340	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr4:3441340C>T	ENST00000344733.5	+	18	5177	c.4273C>T	c.(4273-4275)Cct>Tct	p.P1425S	RGS12_ENST00000338806.4_Missense_Mutation_p.P777S	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1425						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ATCAGACCTCCCTGGCTTGGG	0.692000													11	15					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137676919	137676919	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr9:137676919C>T	ENST00000371817.3	+	30	2983	c.2569C>T	c.(2569-2571)Cct>Tct	p.P857S		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	857	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TGACCCCGGTCCTCTGGGACC	0.642000													28	37					0	0	1	0	0
POLG	5428	broad.mit.edu	37	15	89869856	89869856	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr15:89869856G>A	ENST00000268124.5	-	9	2032	c.1699C>T	c.(1699-1701)Cct>Tct	p.P567S	POLG_ENST00000442287.2_Missense_Mutation_p.P567S	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	567					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			GGGTGTCCAGGAAGGTGCTGG	0.612000								DNA polymerases (catalytic subunits)					35	45					0	0	1	0	0
LARP1B	55132	broad.mit.edu	37	4	129012229	129012229	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr4:129012229C>T	ENST00000326639.6	+	6	643	c.432C>T	c.(430-432)atC>atT	p.I144I	LARP1B_ENST00000394288.3_Silent_p.I144I|LARP1B_ENST00000512292.1_Silent_p.I144I|LARP1B_ENST00000441387.1_Silent_p.I144I|LARP1B_ENST00000432347.2_Silent_p.I144I|LARP1B_ENST00000264584.5_Silent_p.I97I|LARP1B_ENST00000427266.1_Silent_p.I144I|LARP1B_ENST00000354456.3_5'UTR	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	144	Arg-rich.						RNA binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						GTGGTAATATCCGAGGTTCCT	0.398000													55	45					0	0	1	0	0
OR8U1	219417	broad.mit.edu	37	11	56143306	56143306	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:56143306G>A	ENST00000302270.1	+	1	207	c.207G>A	c.(205-207)gtG>gtA	p.V69V		NM_001005204.1	NP_001005204.1			olfactory receptor, family 8, subfamily U, member 1											NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					TAGCTTTTGTGGATTTCTGTT	0.398000													77	139					0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870960	51870960	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr20:51870960G>A	ENST00000371497.5	+	2	1850	c.963G>A	c.(961-963)aaG>aaA	p.K321K	TSHZ2_ENST00000329613.6_Silent_p.K318K|TSHZ2_ENST00000603338.2_Silent_p.K318K	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	321					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CCCCGGCTAAGAAACGCGTTT	0.443000													52	71					0	0	1	0	0
SLC6A12	6539	broad.mit.edu	37	12	305972	305972	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:305972G>A	ENST00000428720.1	-	11	1895	c.1152C>T	c.(1150-1152)ttC>ttT	p.F384F	SLC6A12_ENST00000397296.2_Silent_p.F384F|SLC6A12_ENST00000359674.4_Silent_p.F384F|SLC6A12_ENST00000424061.2_Silent_p.F384F|SLC6A12_ENST00000536824.1_Silent_p.F384F	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	384					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			GCATGATAAAGAACAGGCAGG	0.582000													44	76					0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196274467	196274467	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:196274467G>A	ENST00000367433.5	-	21	2521	c.2420C>T	c.(2419-2421)tCc>tTc	p.S807F	KCNT2_ENST00000294725.8_Missense_Mutation_p.S831F|KCNT2_ENST00000367431.4_Missense_Mutation_p.S757F|KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	831						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						ACTGAGACTGGAAAACAACCT	0.363000													18	41					0	0	1	0	0
STK38L	23012	broad.mit.edu	37	12	27467549	27467549	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:27467549C>T	ENST00000389032.3	+	7	799	c.630C>T	c.(628-630)atC>atT	p.I210I	STK38L_ENST00000539577.1_Silent_p.I117I	NM_015000.3	NP_055815.1	Q9Y2H1	ST38L_HUMAN	serine/threonine kinase 38 like	210	Protein kinase.				intracellular protein kinase cascade|regulation of cellular component organization	actin cytoskeleton|cytoplasm	actin binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12	Colorectal(261;0.0847)					TGGGTTTCATCCATCGGGATA	0.413000													23	40					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240421273	240421273	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:240421273C>T	ENST00000319653.9	+	7	4324	c.4094C>T	c.(4093-4095)tCa>tTa	p.S1365L	FMN2_ENST00000545751.1_Intron	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1365	FH2.				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)			AACAAAAGATCACAAGCAGTT	0.299000													21	35					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141721530	141721530	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:141721530C>T	ENST00000475668.2	+	6	757	c.703C>T	c.(703-705)Cgt>Tgt	p.R235C	MGAM_ENST00000549489.2_Missense_Mutation_p.R235C			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	235	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AAGCAACAATCGTGTTTTGTA	0.433000													42	93					0	0	1	0	0
ABCA1	19	broad.mit.edu	37	9	107578495	107578495	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr9:107578495G>A	ENST00000374736.3	-	25	4061	c.3667C>T	c.(3667-3669)Cat>Tat	p.H1223Y		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1223					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TCAATCTCATGAAAGAGTTCC	0.502000													111	152					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82508656	82508656	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:82508656C>T	ENST00000423517.2	-	10	13988	c.13651G>A	c.(13651-13653)Gaa>Aaa	p.E4551K	PCLO_ENST00000333891.8_Missense_Mutation_p.E4551K|PCLO_ENST00000426442.2_5'UTR	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4440					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTCTTACCTTCCATAAGCTTC	0.378000													13	21					0	0	1	0	0
LRIT3	345193	broad.mit.edu	37	4	110791115	110791115	+	Missense_Mutation	SNP	C	C	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr4:110791115C>A	ENST00000327908.3	+	4	1425	c.661C>A	c.(661-663)Cct>Act	p.P221T	LRIT3_ENST00000379920.3_Missense_Mutation_p.P359T|LRIT3_ENST00000594814.1_Missense_Mutation_p.P404T|LRIT3_ENST00000409621.2_Missense_Mutation_p.P221T			Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	359	Ig-like.					integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		tactttgtctcctccctctac	0.473000													32	32					1.80694e-10	1.84082e-10	1	1	0
KCNA5	3741	broad.mit.edu	37	12	5153888	5153888	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:5153888C>T	ENST00000252321.3	+	1	804	c.575C>T	c.(574-576)tCc>tTc	p.S192F		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	192						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						GTCAACGTCTCCCTGGACGTG	0.612000													35	43					0	0	1	0	0
FOXP1	27086	broad.mit.edu	37	3	71247488	71247488	+	Silent	SNP	G	G	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:71247488G>T	ENST00000318789.4	-	6	570	c.45C>A	c.(43-45)gcC>gcA	p.A15A	FOXP1_ENST00000475937.1_Silent_p.A15A|FOXP1_ENST00000484350.1_Silent_p.A15A|FOXP1_ENST00000468577.1_Silent_p.A15A|FOXP1_ENST00000498215.1_Silent_p.A15A|FOXP1_ENST00000493089.1_Silent_p.A15A|FOXP1_ENST00000318779.3_Silent_p.A15A	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	15					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		CATTCTGGATGGCTGAACCGT	0.577000			T	PAX5	ALL								84	112					4.90379e-48	5.08656e-48	1	1	0
NXF3	56000	broad.mit.edu	37	X	102337987	102337987	+	Silent	SNP	T	T	C			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chrX:102337987T>C	ENST00000395065.3	-	7	737	c.636A>G	c.(634-636)caA>caG	p.Q212Q	NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000425463.2_Silent_p.Q123Q	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	212						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						CATCACACTGTTGGTTCATGG	0.507000													187	70					0	0	1	0	0
HGS	9146	broad.mit.edu	37	17	79663934	79663934	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:79663934C>T	ENST00000329138.4	+	18	1923	c.1788C>T	c.(1786-1788)gcC>gcT	p.A596A		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	596	Gln-rich.|Interaction with NF2.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			TCAGCCCTGCCGGCTCGGTGG	0.692000													50	82					0	0	1	0	0
GPRASP2	114928	broad.mit.edu	37	X	101971114	101971114	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chrX:101971114C>T	ENST00000543253.1	+	5	2236	c.1317C>T	c.(1315-1317)gcC>gcT	p.A439A	GPRASP2_ENST00000332262.5_Silent_p.A439A|GPRASP2_ENST00000535209.1_Silent_p.A439A	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2											breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						GAGAAGAGGCCAAGCCGGAGT	0.562000													69	46					0	0	1	0	0
KRT75	9119	broad.mit.edu	37	12	52827650	52827650	+	Missense_Mutation	SNP	C	C	G			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:52827650C>G	ENST00000252245.5	-	1	659	c.439G>C	c.(439-441)Gcc>Ccc	p.A147P		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	147	Head.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		CGCTCCTCGGCCCGCACCCGC	0.587000													71	111					0	0	1	0	0
ZNF652	22834	broad.mit.edu	37	17	47394690	47394690	+	Missense_Mutation	SNP	C	C	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:47394690C>A	ENST00000362063.2	-	2	716	c.398G>T	c.(397-399)gGg>gTg	p.G133V	ZNF652_ENST00000430262.2_Missense_Mutation_p.G133V	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	133	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			ACCCTTTTCCCCTTTAGATAC	0.438000													52	92					3.76343e-11	3.83742e-11	1	1	0
KRT75	9119	broad.mit.edu	37	12	52827652	52827652	+	Missense_Mutation	SNP	C	C	G			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:52827652C>G	ENST00000252245.5	-	1	657	c.437G>C	c.(436-438)cGg>cCg	p.R146P		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	146	Head.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		CTCCTCGGCCCGCACCCGCTG	0.587000													73	114					0	0	1	0	0
RPP25L	138716	broad.mit.edu	37	9	34610831	34610831	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr9:34610831G>A	ENST00000297613.4	-	2	743	c.463C>T	c.(463-465)Cga>Tga	p.R155*	RPP25L_ENST00000378959.4_Nonsense_Mutation_p.R155*	NM_148179.2	NP_680545.1	Q8N5L8	CI023_HUMAN	ribonuclease P/MRP 25kDa subunit-like	155							nucleic acid binding										GCCCTTCTTCGGGAACGAGGG	0.632000													66	72					0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46060340	46060340	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr4:46060340C>T	ENST00000295452.4	-	7	977	c.810G>A	c.(808-810)atG>atA	p.M270I		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	270					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TGAAATATCCCATTCTTCTGC	0.328000													22	29					0	0	1	0	0
UGT2B7	7364	broad.mit.edu	37	4	69962477	69962477	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr4:69962477C>T	ENST00000305231.7	+	1	285	c.239C>T	c.(238-240)tCt>tTt	p.S80F	UGT2B7_ENST00000508661.1_Missense_Mutation_p.S80F|UGT2B7_ENST00000509763.1_Intron	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	80					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TATCCCACATCTTTAACTAAA	0.363000													37	38					0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33137173	33137173	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr6:33137173G>A	ENST00000341947.2	-	51	4012	c.3785C>T	c.(3784-3786)cCc>cTc	p.P1262L	COL11A2_ENST00000374708.4_Missense_Mutation_p.P1176L|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374713.1_Missense_Mutation_p.P1215L|COL11A2_ENST00000395197.1_Missense_Mutation_p.P1202L|COL11A2_ENST00000374714.1_Missense_Mutation_p.P1236L|COL11A2_ENST00000361917.1_Missense_Mutation_p.P1155L|COL11A2_ENST00000357486.1_Missense_Mutation_p.P1241L|COL11A2_ENST00000374712.1_Missense_Mutation_p.P1181L	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1262	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GTTCCCTTTGGGGCCATCATC	0.627000													34	43					0	0	1	0	0
USP19	10869	broad.mit.edu	37	3	49150050	49150050	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:49150050G>A	ENST00000453664.1	-	18	2800	c.2482C>T	c.(2482-2484)Cgt>Tgt	p.R828C	USP19_ENST00000417901.1_Missense_Mutation_p.R840C|USP19_ENST00000398888.2_Missense_Mutation_p.R737C|USP19_ENST00000398892.3_Missense_Mutation_p.R777C|USP19_ENST00000398896.1_Missense_Mutation_p.R545C|USP19_ENST00000398898.2_Missense_Mutation_p.R777C|USP19_ENST00000434032.2_Missense_Mutation_p.R838C	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	737					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CGATGAAAACGATTCTTAATT	0.522000													18	49					0	0	1	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95519079	95519079	+	RNA	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:95519079C>T	ENST00000432432.2	-	0	472					NR_040113.1																						CGCCATGTTTCAGCAGAATAA	0.443000													90	136					0	0	1	0	0
C2orf62	375307	broad.mit.edu	37	2	219222449	219222449	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:219222449C>T	ENST00000289388.3	+	3	340	c.311C>T	c.(310-312)tCc>tTc	p.S104F	C2orf62_ENST00000481940.1_3'UTR|AC021016.8_ENST00000411433.1_RNA	NM_198559.1	NP_940961.1	Q7Z7H3	CB062_HUMAN	chromosome 2 open reading frame 62	104										endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGCGGAAATTCCCTCCTGGGT	0.537000													30	64					0	0	1	0	0
PDE4B	5142	broad.mit.edu	37	1	66829101	66829101	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:66829101C>T	ENST00000423207.2	+	10	1571	c.1086C>T	c.(1084-1086)ctC>ctT	p.L362L	PDE4B_ENST00000480109.2_Silent_p.L144L|PDE4B_ENST00000371049.3_Silent_p.L377L|PDE4B_ENST00000329654.4_Silent_p.L377L|PDE4B_ENST00000371045.5_Silent_p.L205L	NM_001037340.1	NP_001032417.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	377					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	AAAGAGACCTCCTAAAGACAT	0.353000													20	34					0	0	1	0	0
SLC35C1	55343	broad.mit.edu	37	11	45827680	45827680	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:45827680G>A	ENST00000314134.3	+	1	1724	c.328G>A	c.(328-330)Gac>Aac	p.D110N	SLC35C1_ENST00000456334.1_Missense_Mutation_p.D97N|SLC35C1_ENST00000442528.2_Missense_Mutation_p.D97N	NM_018389.4	NP_060859.4	Q96A29	FUCT1_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C1	110						Golgi membrane|integral to membrane	GDP-fucose transmembrane transporter activity			endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				GBM - Glioblastoma multiforme(35;0.227)		CTTGCGCCTGGACCTCAGGGT	0.632000													44	59					0	0	1	0	0
GYS2	2998	broad.mit.edu	37	12	21757460	21757460	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:21757460G>A	ENST00000261195.2	-	1	321	c.67C>T	c.(67-69)Ctt>Ttt	p.L23F		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	23					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCCACAGGAAGTTCTTCGACT	0.498000													49	74					0	0	1	0	0
MIR520B	574473	broad.mit.edu	37	19	54204492	54204492	+	RNA	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:54204492G>A	ENST00000384989.1	+	0	12					NR_030195.1																						CCTCTACAGGGAAGCGCTTTC	0.418000													17	42					0	0	1	0	0
SLC35F1	222553	broad.mit.edu	37	6	118598702	118598702	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	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													4	145					0	0	1	0	0
C11orf16	56673	broad.mit.edu	37	11	8947244	8947244	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:8947244C>T	ENST00000326053.5	-	5	1076	c.970G>A	c.(970-972)Gag>Aag	p.E324K	C11orf16_ENST00000525780.1_Missense_Mutation_p.E324K	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	324										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		GCTACTTTCTCCTCTTTAGGA	0.552000													52	80					0	0	1	0	0
C3	718	broad.mit.edu	37	19	6694577	6694577	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:6694577G>A	ENST00000245907.6	-	24	3111	c.3019C>T	c.(3019-3021)Ccc>Tcc	p.P1007S		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1007					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CAGCCCGAGGGGGTCACAATG	0.607000													35	59					0	0	1	0	0
GFM1	85476	broad.mit.edu	37	3	158363444	158363444	+	Silent	SNP	T	T	C			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:158363444T>C	ENST00000486715.1	+	2	465	c.108T>C	c.(106-108)tcT>tcC	p.S36S	GFM1_ENST00000478576.1_Silent_p.S36S|GFM1_ENST00000264263.5_Silent_p.S36S	NM_024996.5	NP_079272.4	Q96RP9	EFGM_HUMAN	G elongation factor, mitochondrial 1	36					mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			GCCGATGGTCTTCATCAGGGG	0.373000													24	32					0	0	1	0	0
APOBEC3D	140564	broad.mit.edu	37	22	39418882	39418882	+	Missense_Mutation	SNP	C	C	G			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr22:39418882C>G	ENST00000216099.7	+	2	480	c.73C>G	c.(73-75)Ccc>Gcc	p.P25A	APOBEC3D_ENST00000427494.2_Missense_Mutation_p.P25A|APOBEC3D_ENST00000381568.4_Missense_Mutation_p.P25A	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D	25					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					TGAAAACGAACCCATCCTCTA	0.522000													46	94					0	0	1	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84606122	84606122	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr9:84606122C>T	ENST00000344803.2	+	4	784	c.737C>T	c.(736-738)cCc>cTc	p.P246L		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		CTTCCCTTTCCCCTTCTCCCA	0.542000													174	77					0	0	1	0	0
PROKR2	128674	broad.mit.edu	37	20	5282926	5282926	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr20:5282926G>A	ENST00000546004.1	-	3	1161	c.915C>T	c.(913-915)ttC>ttT	p.F305F	PROKR2_ENST00000217270.3_Silent_p.F305F			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	305						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						TTTCCTTCACGAACACAGTGG	0.537000										HNSCC(71;0.22)			48	56					0	0	1	0	0
TRAK2	66008	broad.mit.edu	37	2	202264132	202264132	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:202264132G>A	ENST00000332624.3	-	5	876	c.448C>T	c.(448-450)Ctg>Ttg	p.L150L	TRAK2_ENST00000430254.1_Silent_p.L150L	NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	150						early endosome|plasma membrane	GABA receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						TGCTCCTCCAGGGATTCGTTC	0.398000													35	37					0	0	1	0	0
FUCA1	2517	broad.mit.edu	37	1	24186370	24186370	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:24186370G>A	ENST00000374479.3	-	4	693	c.686C>T	c.(685-687)tCt>tTt	p.S229F		NM_000147.4	NP_000138.2	P04066	FUCO_HUMAN	fucosidase, alpha-L- 1, tissue	229					fucose metabolic process|glycosaminoglycan catabolic process	lysosome	alpha-L-fucosidase activity|cation binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8		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;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)		CTCCCCATCAGACCAGATCAG	0.388000													37	21					0	0	1	0	0
FGF11	2256	broad.mit.edu	37	17	7344826	7344826	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:7344826G>A	ENST00000293829.4	+	2	824	c.230G>A	c.(229-231)tGc>tAc	p.C77Y	RP11-104H15.7_ENST00000575310.1_RNA|FGF11_ENST00000572907.1_5'UTR|FGF11_ENST00000575082.1_5'UTR|RP11-104H15.8_ENST00000576615.1_RNA|FGF11_ENST00000575235.1_5'UTR|FGF11_ENST00000575331.1_5'UTR|FGF11_ENST00000575398.1_5'UTR	NM_004112.2	NP_004103.1	Q92914	FGF11_HUMAN	fibroblast growth factor 11	77					cell-cell signaling|nervous system development|signal transduction		growth factor activity			central_nervous_system(1)|large_intestine(3)|ovary(1)|prostate(1)	6		Prostate(122;0.157)				AAACTGTTCTGCCGCCAGGGT	0.542000													24	40					0	0	1	0	0
ANXA9	8416	broad.mit.edu	37	1	150956828	150956828	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:150956828C>T	ENST00000368947.4	+	6	815	c.339C>T	c.(337-339)ccC>ccT	p.P113P	ANXA9_ENST00000474997.1_3'UTR	NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	annexin A9	113					cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGCTGCAGCCCACAGCCCAGT	0.567000													62	111					0	0	1	0	0
ROCK2	9475	broad.mit.edu	37	2	11338875	11338875	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:11338875G>A	ENST00000315872.6	-	24	3384	c.2936C>T	c.(2935-2937)aCt>aTt	p.T979I	ROCK2_ENST00000401753.1_Missense_Mutation_p.T736I	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	979	RHOA binding (By similarity).				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		AACATCACTAGTTAGTGTCCT	0.264000													6	22					0	0	1	0	0
ZNF273	10793	broad.mit.edu	37	7	64388724	64388724	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:64388724C>T	ENST00000476120.1	+	4	1089	c.1018C>T	c.(1018-1020)Cat>Tat	p.H340Y	ZNF273_ENST00000527278.1_3'UTR|ZNF273_ENST00000319636.5_Missense_Mutation_p.H275Y	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN	zinc finger protein 273	340					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Lung NSC(55;0.0295)|all_lung(88;0.0691)				TAAGATAATTCATACTGGAGA	0.343000													21	31					0	0	1	0	0
PLRG1	5356	broad.mit.edu	37	4	155469997	155469997	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr4:155469997G>A	ENST00000499023.2	-	2	226	c.100C>T	c.(100-102)Cct>Tct	p.P34S	PLRG1_ENST00000393905.2_Missense_Mutation_p.P34S|PLRG1_ENST00000302078.5_Missense_Mutation_p.P34S	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1	34						catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				TCATCTAAAGGCACAGGTTTT	0.388000													25	10					0	0	1	0	0
SYNPR	132204	broad.mit.edu	37	3	63600994	63600994	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:63600994C>T	ENST00000478300.1	+	6	1106	c.695C>T	c.(694-696)tCa>tTa	p.S232L	SYNPR_ENST00000460711.1_Missense_Mutation_p.S223L|SYNPR_ENST00000295894.5_Missense_Mutation_p.S212L|SYNPR_ENST00000465156.1_Missense_Mutation_p.S148L|SYNPR_ENST00000479198.1_3'UTR	NM_001130003.1	NP_001123475.1	Q8TBG9	SYNPR_HUMAN	synaptoporin	212	5 X approximate repeats.					cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	transporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8				BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904)		AGATATCTTTCAGATCCAATG	0.468000													9	31					0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21098807	21098807	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr10:21098807C>T	ENST00000377122.4	-	25	2935	c.2539G>A	c.(2539-2541)Gat>Aat	p.D847N	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	847	Linker.				regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GAGCCAGGATCTGTGCGCCAA	0.388000													39	58					0	0	1	0	0
INTS12	57117	broad.mit.edu	37	4	106604163	106604163	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr4:106604163G>A	ENST00000451321.2	-	7	1595	c.1116C>T	c.(1114-1116)ggC>ggT	p.G372G	INTS12_ENST00000394735.1_Silent_p.G372G|INTS12_ENST00000340139.5_Silent_p.G372G	NM_001142471.1	NP_001135943.1	Q96CB8	INT12_HUMAN	integrator complex subunit 12	372	Ser-rich.				snRNA processing	integrator complex	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		AGCGACTAAGGCCAGTTTTAC	0.453000													98	95					0	0	1	0	0
GBP5	115362	broad.mit.edu	37	1	89735075	89735075	+	Missense_Mutation	SNP	A	A	C			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:89735075A>C	ENST00000343435.5	-	3	700	c.164T>G	c.(163-165)aTg>aGg	p.M55R	RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000370459.3_Missense_Mutation_p.M55R	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	55						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		CAGCTTGTTCATCAGGTAGGA	0.502000													64	110					0	0	1	0	0
PLEKHH1	57475	broad.mit.edu	37	14	68029230	68029230	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:68029230C>T	ENST00000329153.5	+	7	1014	c.882C>T	c.(880-882)ctC>ctT	p.L294L		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	294						cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		GAGGGATGCTCCCTGGGACAA	0.602000													11	20					0	0	1	0	0
CHD4	1108	broad.mit.edu	37	12	6692231	6692231	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:6692231G>A	ENST00000309577.6	-	26	4356	c.4193C>T	c.(4192-4194)tCa>tTa	p.S1398L	RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000544484.1_Missense_Mutation_p.S1395L|CHD4_ENST00000357008.2_Missense_Mutation_p.S1370L|CHD4_ENST00000544040.1_Missense_Mutation_p.S1363L|CHD4_ENST00000540960.1_5'UTR			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1370					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						ACCTTCCTCTGAAGCCACTGA	0.502000													56	60					0	0	1	0	0
CHST12	55501	broad.mit.edu	37	7	2473484	2473484	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:2473484G>A	ENST00000258711.6	+	2	1345	c.1210G>A	c.(1210-1212)Ggc>Agc	p.G404S		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	404					dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		TGTTCTCTTCGGCTACCCCAA	0.572000													56	78					0	0	1	0	0
KCNQ1	3784	broad.mit.edu	37	11	2606501	2606501	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:2606501C>T	ENST00000155840.5	+	8	1200	c.1092C>T	c.(1090-1092)ttC>ttT	p.F364F	KCNQ1_ENST00000335475.5_Silent_p.F237F	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	364					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	AGAAGCACTTCAACCGGCAGA	0.592000													43	67					0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157508948	157508948	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:157508948C>T	ENST00000361835.3	-	7	1487	c.1330G>A	c.(1330-1332)Ggg>Agg	p.G444R	FCRL5_ENST00000368190.3_Missense_Mutation_p.G444R|FCRL5_ENST00000368191.3_Missense_Mutation_p.G359R|FCRL5_ENST00000356953.4_Missense_Mutation_p.G444R|FCRL5_ENST00000368189.3_Missense_Mutation_p.G444R	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	444	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				TAGTAGTTCCCTGAATGCTCT	0.587000													14	37					0	0	1	0	0
SOX13	9580	broad.mit.edu	37	1	204086824	204086824	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:204086824C>T	ENST00000367204.1	+	7	873	c.764C>T	c.(763-765)cCc>cTc	p.P255L	SOX13_ENST00000367203.4_3'UTR	NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	255	Pro-rich.				anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			CAGCCCATTCCCTGCAAACCA	0.572000													11	18					0	0	1	0	0
RNF123	63891	broad.mit.edu	37	3	49743012	49743012	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:49743012C>T	ENST00000327697.6	+	24	2348	c.2204C>T	c.(2203-2205)cCc>cTc	p.P735L	RNF123_ENST00000432042.1_Missense_Mutation_p.P589L	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	735						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GGGCGGCCCCCCGAGGAGCCT	0.647000													24	22					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53657952	53657952	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chrX:53657952C>T	ENST00000342160.3	-	11	1254	c.797G>A	c.(796-798)gGc>gAc	p.G266D	HUWE1_ENST00000218328.8_Missense_Mutation_p.G266D|HUWE1_ENST00000262854.6_Missense_Mutation_p.G266D			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	266					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ATTAGAAAAGCCATGGGCCAG	0.378000													36	15					0	0	1	0	0
SPARC	6678	broad.mit.edu	37	5	151047129	151047129	+	Missense_Mutation	SNP	C	C	G			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:151047129C>G	ENST00000231061.4	-	7	797	c.484G>C	c.(484-486)Gaa>Caa	p.E162Q	SPARC_ENST00000537849.1_5'UTR	NM_003118.3	NP_003109.1	P09486	SPRC_HUMAN	secreted protein, acidic, cysteine-rich (osteonectin)	162					ossification|platelet activation|platelet degranulation|signal transduction	basement membrane|extracellular space|platelet alpha granule lumen	calcium ion binding|collagen binding			central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)	Becaplermin(DB00102)	AGGGGGAATTCGGTCAGCTCA	0.617000													18	38					0	0	1	0	0
POMT2	29954	broad.mit.edu	37	14	77743784	77743784	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:77743784G>A	ENST00000261534.4	-	21	2390	c.2188C>T	c.(2188-2190)Ccc>Tcc	p.P730S		NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	730					protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		TGGGCCAGGGGACCAACCATC	0.587000													29	45					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100654466	100654466	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr8:100654466C>T	ENST00000358544.2	+	34	5834	c.5723C>T	c.(5722-5724)cCt>cTt	p.P1908L	VPS13B_ENST00000357162.2_Missense_Mutation_p.P1883L|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1908					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ATTTCTTTTCCTTCAGGGAAA	0.438000													81	128					0	0	1	0	0
SCAMP4	113178	broad.mit.edu	37	19	1917808	1917808	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:1917808C>T	ENST00000316097.8	+	3	390	c.123C>T	c.(121-123)taC>taT	p.Y41Y	SCAMP4_ENST00000414057.2_3'UTR|SCAMP4_ENST00000409472.1_Silent_p.Y41Y	NM_079834.2	NP_524558.1	Q969E2	SCAM4_HUMAN	secretory carrier membrane protein 4	41					protein transport	integral to membrane							Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAGGATCTACCGGCTGTGGA	0.652000													21	10					0	0	1	0	0
OR8K3	219473	broad.mit.edu	37	11	56086224	56086224	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:56086224C>T	ENST00000312711.1	+	1	442	c.442C>T	c.(442-444)Cct>Tct	p.P148S		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					GGTAGCAATCCCTTACCTCTA	0.428000													34	53					0	0	1	0	0
ANKS4B	257629	broad.mit.edu	37	16	21245098	21245098	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr16:21245098C>T	ENST00000311620.5	+	1	113	c.40C>T	c.(40-42)Ctg>Ttg	p.L14L		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	14										NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		TGATAGTTACCTGGAACTTCT	0.498000													75	44					0	0	1	0	0
XKR3	150165	broad.mit.edu	37	22	17280681	17280681	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr22:17280681C>T	ENST00000331428.5	-	3	671	c.569G>A	c.(568-570)cGa>cAa	p.R190Q		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	190						integral to membrane|plasma membrane		p.R190L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				AGGCCATTCTCGTATAGTGAG	0.358000													57	91					0	0	1	0	0
OR5M10	390167	broad.mit.edu	37	11	56344286	56344286	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:56344286C>T	ENST00000526812.2	-	1	977	c.912G>A	c.(910-912)atG>atA	p.M304I		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						TTCCCCTAATCATTTGTTGTA	0.373000													103	173					0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17483187	17483187	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:17483187G>A	ENST00000302539.4	-	5	890	c.765C>T	c.(763-765)atC>atT	p.I255I	ABCC8_ENST00000389817.3_Silent_p.I255I	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	255					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CCCTCATGGCGATGGGCAGCT	0.587000													54	68					0	0	1	0	0
AKAP17A	8227	broad.mit.edu	37	X	1719913	1719913	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chrX:1719913C>T	ENST00000313871.3	+	5	1710	c.1514C>T	c.(1513-1515)gCc>gTc	p.A505V		NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	505					B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						CACCCAGAGGCCGACGGCGCT	0.716000													9	6					0	0	1	0	0
CD8A	925	broad.mit.edu	37	2	87016531	87016531	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:87016531G>A	ENST00000409511.2	-	7	1570	c.540C>T	c.(538-540)gcC>gcT	p.A180A	CD8A_ENST00000538832.1_Silent_p.A221A|CD8A_ENST00000456996.2_Intron|CD8A_ENST00000352580.3_Intron|CD8A_ENST00000283635.3_Silent_p.A180A|CD8A_ENST00000409781.1_Silent_p.A143A	NM_001145873.1	NP_001139345.1	P01732	CD8A_HUMAN	CD8a molecule	180					antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding			lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	8						AGATATCACAGGCGAAGTCCA	0.607000													27	57					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13397435	13397435	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:13397435G>A	ENST00000360228.5	-	20	3434	c.3435C>T	c.(3433-3435)atC>atT	p.I1145I	CACNA1A_ENST00000573710.2_Silent_p.I1146I	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1146					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GGTTGGTGACGATAAGGCTAT	0.662000													13	25					0	0	1	0	0
KCNF1	3754	broad.mit.edu	37	2	11053937	11053937	+	Missense_Mutation	SNP	C	C	T	rs140683647		TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:11053937C>T	ENST00000295082.1	+	1	1875	c.1385C>T	c.(1384-1386)cCg>cTg	p.P462L		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	462						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		AAGGAGGCGCCGAGCTGCAGC	0.662000													17	38					0	0	1	0	0
HR	55806	broad.mit.edu	37	8	21977351	21977351	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr8:21977351C>T	ENST00000381418.4	-	14	4379	c.2899G>A	c.(2899-2901)Gga>Aga	p.G967R	HR_ENST00000312841.8_Missense_Mutation_p.G967R	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	967	JmjC.						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		TTGAGTTTTCCATGGAGGGCG	0.642000													53	23					0	0	1	0	0
C2orf78	388960	broad.mit.edu	37	2	74043401	74043401	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:74043401C>T	ENST00000409561.1	+	3	2172	c.2051C>T	c.(2050-2052)cCg>cTg	p.P684L		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	684								p.P684Q(1)|p.P654Q(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						GGTAAAGGCCCGGAGAAAATT	0.517000													33	62					0	0	1	0	0
SEMA4C	54910	broad.mit.edu	37	2	97529719	97529719	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:97529719G>A	ENST00000305476.5	-	11	1406	c.1274C>T	c.(1273-1275)gCc>gTc	p.A425V		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	425	Dominant negative effect on myogenic differentiation (By similarity).|Sema.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						AACCCGGTCGGCCACCAGGTG	0.612000													21	14					0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28823694	28823694	+	Silent	SNP	C	C	G			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:28823694C>G	ENST00000422425.2	+	35	2504	c.2460C>G	c.(2458-2460)gtC>gtG	p.V820V	PLB1_ENST00000327757.5_Silent_p.V831V	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	831	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TGAGCCAAGTCCAaactctga	0.418000													40	47					0	0	1	0	0
PELP1	27043	broad.mit.edu	37	17	4575311	4575311	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:4575311G>A	ENST00000301396.4	-	16	3632	c.3407C>T	c.(3406-3408)cCc>cTc	p.P1136L	PELP1_ENST00000574876.1_Missense_Mutation_p.P992L|PELP1_ENST00000436683.2_Intron|PELP1_ENST00000269230.7_Missense_Mutation_p.P902L|PELP1_ENST00000572293.1_Missense_Mutation_p.P1042L			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	992					transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						CACCTTTGGGGGAGACTCAGG	0.642000													8	6					0	0	1	0	0
THRB	7068	broad.mit.edu	37	3	24188211	24188211	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:24188211C>A	ENST00000396671.2	-	7	835	c.487G>T	c.(487-489)Gaa>Taa	p.E163*	THRB_ENST00000416420.1_Nonsense_Mutation_p.E163*|THRB_ENST00000356447.4_Nonsense_Mutation_p.E163*|THRB_ENST00000280696.5_Nonsense_Mutation_p.E178*	NM_001128176.2	NP_001121648.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	163					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	AAGCGACATTCCTGGCACTGA	0.363000													38	30					1.67305e-13	1.71206e-13	1	1	0
SUPT7L	9913	broad.mit.edu	37	2	27876607	27876607	+	Silent	SNP	C	C	T	rs138396494	by1000genomes	TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:27876607C>T	ENST00000337768.5	-	6	1559	c.990G>A	c.(988-990)gaG>gaA	p.E330E	SUPT7L_ENST00000406540.1_Silent_p.E328E|SUPT7L_ENST00000404798.2_Silent_p.E195E|SUPT7L_ENST00000464789.2_Silent_p.E328E|SUPT7L_ENST00000405491.1_Silent_p.E328E	NM_014860.1	NP_055675.1	O94864	ST65G_HUMAN	suppressor of Ty 7 (S. cerevisiae)-like	330					histone H3 acetylation|maintenance of protein location in nucleus|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)					AAGCATTTACCTCTGCACCTA	0.433000													57	91					0	0	1	0	0
PPP2R3C	55012	broad.mit.edu	37	14	35560353	35560353	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:35560353G>A	ENST00000261475.5	-	11	1389	c.1036C>T	c.(1036-1038)Cta>Tta	p.L346L		NM_017917.2	NP_060387.2	Q969Q6	P2R3C_HUMAN	protein phosphatase 2, regulatory subunit B'', gamma	346	EF-hand 2.					centrosome|nucleus	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)	15	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491)	GBM - Glioblastoma multiforme(112;0.0803)		ATATATTGTAGAGCTGCAGGT	0.343000													17	39					0	0	1	0	0
TBC1D10A	83874	broad.mit.edu	37	22	30688494	30688494	+	Missense_Mutation	SNP	G	G	A	rs145310510		TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr22:30688494G>A	ENST00000215790.7	-	9	1561	c.1397C>T	c.(1396-1398)cCa>cTa	p.P466L	TBC1D10A_ENST00000403362.1_Missense_Mutation_p.P378L|TBC1D10A_ENST00000403477.3_Missense_Mutation_p.P473L|RP1-130H16.18_ENST00000447976.1_Intron	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	466						intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity	p.P466Q(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CACATGCTGTGGGGGACATGC	0.637000													99	149					0	0	1	0	0
ZRSR1	7310	broad.mit.edu	37	5	112228452	112228452	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:112228452G>A	ENST00000391338.1	+	1	1140	c.1116G>A	c.(1114-1116)atG>atA	p.M372I	REEP5_ENST00000513339.1_Intron|REEP5_ENST00000474542.2_Intron|REEP5_ENST00000379638.4_Intron|SRP19_ENST00000512790.1_3'UTR|REEP5_ENST00000504247.1_Intron|REEP5_ENST00000545426.1_3'UTR	NM_001204199.1	NP_001191128.1			zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1											breast(1)|skin(1)|stomach(2)	4						GGGAGAAGATGGGCCACCACG	0.493000													20	42					0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8862482	8862482	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr20:8862482G>A	ENST00000338037.6	+	32	3664	c.3637G>A	c.(3637-3639)Gat>Aat	p.D1213N	PLCB1_ENST00000378641.3_3'UTR	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1213					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AAAAGAATTTGATACTCCTCT	0.532000													44	71					0	0	1	0	0
HERC5	51191	broad.mit.edu	37	4	89414189	89414189	+	Nonsense_Mutation	SNP	T	T	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr4:89414189T>A	ENST00000264350.3	+	17	2313	c.2160T>A	c.(2158-2160)taT>taA	p.Y720*	HERC5_ENST00000508159.1_Nonsense_Mutation_p.Y358*	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	720	HECT.				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		AAATTGGGTATGACCTCGGAG	0.408000													22	12					0	0	1	0	0
PRLH	51052	broad.mit.edu	37	2	238475807	238475807	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:238475807C>T	ENST00000165524.1	+	2	253	c.253C>T	c.(253-255)Cag>Tag	p.Q85*		NM_015893.1	NP_056977.1	P81277	PRRP_HUMAN	prolactin releasing hormone	85						extracellular region				endometrium(1)|large_intestine(1)	2		Lung NSC(271;0.142)|all_lung(227;0.175)		Epithelial(121;8.28e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.03e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.19e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000329)|Lung(119;0.0106)|LUSC - Lung squamous cell carcinoma(224;0.0249)		TATGTCGTCCCAGGATGGCTG	0.632000													17	13					0	0	1	0	0
MAP3K13	9175	broad.mit.edu	37	3	185198098	185198098	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:185198098G>A	ENST00000265026.3	+	13	2914	c.2580G>A	c.(2578-2580)gaG>gaA	p.E860E	TMEM41A_ENST00000475480.1_5'UTR|MAP3K13_ENST00000446828.1_Silent_p.E653E|MAP3K13_ENST00000443863.1_Silent_p.E716E|MAP3K13_ENST00000424227.1_Silent_p.E860E|MAP3K13_ENST00000535426.1_Silent_p.E716E	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	860					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			ATGGAGAAGAGGGAAATACCA	0.493000													33	90					0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87970907	87970907	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr6:87970907C>T	ENST00000369577.3	+	8	7603	c.7560C>T	c.(7558-7560)tgC>tgT	p.C2520C	ZNF292_ENST00000339907.4_Silent_p.C2515C	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2520					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		ATAACCTCTGCCAGTCAGAAA	0.303000													19	38					0	0	1	0	0
ADAM32	203102	broad.mit.edu	37	8	39103614	39103614	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr8:39103614C>T	ENST00000379907.4	+	17	1958	c.1831C>T	c.(1831-1833)Cgt>Tgt	p.R611C	ADAM32_ENST00000519315.1_Missense_Mutation_p.R505C|ADAM32_ENST00000437682.2_Missense_Mutation_p.R512C	NM_145004.5	NP_659441.3	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	611					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			TTGTGTAAATCGTGAATGTGT	0.343000													16	11					0	0	1	0	0
KCNS2	3788	broad.mit.edu	37	8	99441484	99441484	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr8:99441484C>T	ENST00000287042.4	+	2	1627	c.1277C>T	c.(1276-1278)gCc>gTc	p.A426V	KCNS2_ENST00000521839.1_Missense_Mutation_p.A426V	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	426						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			CTTGAGAGTGCCATGCGCAGC	0.498000													96	131					0	0	1	0	0
MTNR1A	4543	broad.mit.edu	37	4	187455077	187455077	+	Silent	SNP	T	T	C			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr4:187455077T>C	ENST00000307161.5	-	2	1020	c.819A>G	c.(817-819)ccA>ccG	p.P273P	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	273					circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	ACAGCCACTCTGGGATCCTAG	0.498000													54	53					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10969106	10969106	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr21:10969106C>T	ENST00000361285.4	-	7	471	c.142G>A	c.(142-144)Gga>Aga	p.G48R	TPTE_ENST00000415664.2_Intron|TPTE_ENST00000298232.7_Intron|TPTE_ENST00000342420.5_Intron	NM_199261.2	NP_954870.2	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	48					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CGGGCTGCTCCTTTAAATTCA	0.468000													54	168					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227945200	227945200	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:227945200G>A	ENST00000396625.3	-	24	1969	c.1762C>T	c.(1762-1764)Cgg>Tgg	p.R588W	COL4A4_ENST00000329662.7_Missense_Mutation_p.R588W	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	588	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TGTCCATCCCGACCATGTGAT	0.453000													53	95					0	0	1	0	0
MLLT6	4302	broad.mit.edu	37	17	36873814	36873814	+	Missense_Mutation	SNP	C	C	G			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr17:36873814C>G	ENST00000325718.7	+	11	1872	c.1781C>G	c.(1780-1782)tCc>tGc	p.S594C	CTB-58E17.9_ENST00000579499.1_RNA	NM_005937.3	NP_005928.2	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	594					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					CTCAGCCGCTCCCCGTTCACC	0.682000			T	MLL	AL								35	35					0	0	1	0	0
CSF1	1435	broad.mit.edu	37	1	110465850	110465850	+	Missense_Mutation	SNP	G	G	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr1:110465850G>T	ENST00000329608.6	+	6	998	c.607G>T	c.(607-609)Gcc>Tcc	p.A203S	CSF1_ENST00000420111.2_Intron|CSF1_ENST00000369801.1_Missense_Mutation_p.A203S|CSF1_ENST00000369802.3_Missense_Mutation_p.A203S|CSF1_ENST00000344188.5_Missense_Mutation_p.A203S	NM_000757.5|NM_172211.3	NP_000748.3|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	203					cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity			breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		CAGTGACCCGGCCTCTGTCTC	0.602000											OREG0013645	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	58	73					2.67592e-24	2.75313e-24	1	1	0
ITGA4	3676	broad.mit.edu	37	2	182347105	182347105	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:182347105G>A	ENST00000397033.2	+	8	1289	c.859G>A	c.(859-861)Gat>Aat	p.D287N		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	287					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	ATTCAGCATTGATGAAAAAGA	0.308000													16	23					0	0	1	0	0
PLTP	5360	broad.mit.edu	37	20	44533686	44533686	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr20:44533686C>T	ENST00000477313.1	-	8	1371	c.777G>A	c.(775-777)gaG>gaA	p.E259E	PLTP_ENST00000420868.2_Silent_p.E164E|PLTP_ENST00000372420.1_Silent_p.E171E|PLTP_ENST00000372431.3_Silent_p.E259E|PLTP_ENST00000542937.1_Silent_p.E279E|PLTP_ENST00000354050.4_Silent_p.E207E			P55058	PLTP_HUMAN	phospholipid transfer protein	259					cellular lipid metabolic process|lipid transport	extracellular region	lipid binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				TCCGCTCTTCCTCCTGCAGCT	0.637000													33	76					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31326522	31326522	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr18:31326522C>T	ENST00000269197.5	+	12	6710	c.6710C>T	c.(6709-6711)cCt>cTt	p.P2237L		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	2237					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						TGCATAGGTCCTTCAAAACTT	0.468000													54	24					0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55161422	55161422	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr4:55161422G>A	ENST00000257290.5	+	23	3584	c.3253G>A	c.(3253-3255)Gaa>Aaa	p.E1085K	FIP1L1_ENST00000507166.1_Missense_Mutation_p.E845K	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	1085	Ser-rich.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.E1085K(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	AGACCTGGTGGAAGACAGCTT	0.517000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			68	59					0	0	1	0	0
PDE12	201626	broad.mit.edu	37	3	57545484	57545484	+	Missense_Mutation	SNP	A	A	G			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:57545484A>G	ENST00000311180.8	+	3	1686	c.1583A>G	c.(1582-1584)gAa>gGa	p.E528G	PDE12_ENST00000487257.1_3'UTR	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	528							hydrolase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		GGGGAGGAGGAAAGATGCAAT	0.418000													50	50					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104054126	104054126	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:104054126G>A	ENST00000388887.2	+	16	1956	c.1752G>A	c.(1750-1752)ctG>ctA	p.L584L		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	584	FAS1 2.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GGAAGCTTCTGGAACTCGTCA	0.433000													117	54					0	0	1	0	0
LHFPL2	10184	broad.mit.edu	37	5	77784749	77784749	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:77784749C>T	ENST00000380345.2	-	5	1333	c.658G>A	c.(658-660)Gag>Aag	p.E220K	LHFPL2_ENST00000515007.2_Missense_Mutation_p.E220K	NM_005779.2	NP_005770.1	Q6ZUX7	LHPL2_HUMAN	lipoma HMGIC fusion partner-like 2	220						integral to membrane				endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	6		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)		OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36)		TTTTTCCCCTCTTCAATTTCT	0.433000													26	85					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121328221	121328221	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr8:121328221C>T	ENST00000297848.3	+	40	4914	c.4644C>T	c.(4642-4644)ggC>ggT	p.G1548G	COL14A1_ENST00000309791.4_Silent_p.G1548G|COL14A1_ENST00000247781.3_Silent_p.G1453G	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1548	Triple-helical region 1 (COL2).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GACGTGATGGCTCACCAGGCC	0.502000													15	26					0	0	1	0	0
GRM2	2912	broad.mit.edu	37	3	51749249	51749249	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:51749249G>A	ENST00000395052.3	+	4	1694	c.1460G>A	c.(1459-1461)tGg>tAg	p.W487*	GRM2_ENST00000475478.1_3'UTR|GRM2_ENST00000442933.2_Intron	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	487					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	CTCATCCCATGGGCCTCACCC	0.632000													11	10					0	0	1	0	0
OR2A5	393046	broad.mit.edu	37	7	143747527	143747527	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:143747527C>T	ENST00000408906.2	+	1	67	c.33C>T	c.(31-33)ttC>ttT	p.F11F		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					TCACAGAATTCATTCTCCTGG	0.502000													49	85					0	0	1	0	0
SMCO1	255798	broad.mit.edu	37	3	196234913	196234913	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:196234913C>T	ENST00000397537.2	-	3	646	c.490G>A	c.(490-492)Gat>Aat	p.D164N		NM_001077657.1	NP_001071125.1			single-pass membrane protein with coiled-coil domains 1																		AACGTGACATCCCTGATGTAC	0.463000													37	97					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189864227	189864227	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:189864227C>T	ENST00000304636.3	+	31	2323	c.2153C>T	c.(2152-2154)gCt>gTt	p.A718V	COL3A1_ENST00000317840.5_Missense_Mutation_p.A718V	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	718	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CCACCTGGTGCTGCTGGTACT	0.448000													40	72					0	0	1	0	0
ZSCAN25	221785	broad.mit.edu	37	7	99217284	99217284	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr7:99217284C>T	ENST00000394152.2	+	4	382	c.55C>T	c.(55-57)Cct>Tct	p.P19S	ZSCAN25_ENST00000334715.3_Missense_Mutation_p.P19S|ZSCAN25_ENST00000262941.6_Missense_Mutation_p.P19S	NM_145115.2	NP_660090.2			zinc finger and SCAN domain containing 25																		GTTGGGTATTCCTGTGGTGAA	0.537000													98	149					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995045	140995045	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chrX:140995045G>A	ENST00000285879.4	+	4	2141	c.1855G>A	c.(1855-1857)Gag>Aag	p.E619K	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	619							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCTTCAGGGGGAGGAATTCCA	0.572000										HNSCC(15;0.026)			228	96					0	0	1	0	0
UPK1B	7348	broad.mit.edu	37	3	118905613	118905613	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:118905613C>T	ENST00000264234.3	+	2	174	c.25C>T	c.(25-27)Cgt>Tgt	p.R9C	UPK1B_ENST00000497685.1_Intron|UPK1B_ENST00000460625.1_Missense_Mutation_p.R9C|RP11-484M3.5_ENST00000490594.1_Intron	NM_006952.3	NP_008883.2	O75841	UPK1B_HUMAN	uroplakin 1B	9					epithelial cell differentiation	integral to membrane	structural molecule activity			breast(1)|endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	14				GBM - Glioblastoma multiforme(114;0.222)		CTCAACTGTTCGTTGCTTCCA	0.393000													21	50					0	0	1	0	0
SLC4A5	57835	broad.mit.edu	37	2	74489343	74489343	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:74489343C>T	ENST00000394019.2	-	11	1129	c.732G>A	c.(730-732)cgG>cgA	p.R244R	SLC4A5_ENST00000359484.4_Silent_p.R180R|SLC4A5_ENST00000423644.1_Silent_p.R244R|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000377632.1_Silent_p.R244R|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377634.4_Silent_p.R244R|SLC4A5_ENST00000358683.4_Silent_p.R180R|SLC4A5_ENST00000357822.5_Silent_p.R244R|SLC4A5_ENST00000346834.4_Silent_p.R244R	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	244						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CACCAGGGCTCCGGGCAGGAC	0.567000													25	36					0	0	1	0	0
TBC1D5	9779	broad.mit.edu	37	3	17226659	17226659	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:17226659C>T	ENST00000253692.7	-	19	3458	c.1794G>A	c.(1792-1794)caG>caA	p.Q598Q	TBC1D5_ENST00000446818.2_Silent_p.Q620Q|TBC1D5_ENST00000429383.4_Silent_p.Q598Q|TBC1D5_ENST00000429924.2_Silent_p.Q572Q|TBC1D5_ENST00000414318.2_5'UTR	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	598						intracellular	protein binding|Rab GTPase activator activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						GGTCATTCAACTGCCCTTGAA	0.383000													31	48					0	0	1	0	0
C11orf87	399947	broad.mit.edu	37	11	109294853	109294853	+	Missense_Mutation	SNP	C	C	T	rs143230091	by1000genomes	TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr11:109294853C>T	ENST00000327419.6	+	2	897	c.494C>T	c.(493-495)cCg>cTg	p.P165L	RP11-708B6.2_ENST00000532992.1_RNA|RP11-708B6.2_ENST00000532929.1_RNA	NM_207645.3	NP_997528.2	Q6NUJ2	CK087_HUMAN	chromosome 11 open reading frame 87	165						integral to membrane		p.P165L(1)		breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						TGTGCTCCTCCGCCTCCACCG	0.657000													29	36					0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193209159	193209159	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:193209159C>T	ENST00000342695.4	-	6	884	c.562G>A	c.(562-564)Gat>Aat	p.D188N	ATP13A4_ENST00000295548.3_Missense_Mutation_p.D188N|ATP13A4_ENST00000392443.3_Missense_Mutation_p.D188N	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	188					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		ACTTCAACATCGATAGTATTA	0.363000													32	70					0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28576878	28576878	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr18:28576878G>A	ENST00000434452.1	-	15	2526	c.2372C>T	c.(2371-2373)tCc>tTc	p.S791F	DSC3_ENST00000360428.4_Missense_Mutation_p.S791F	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	791					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			CCCCCGGCAGGATTCCAAGGT	0.507000													31	17					0	0	1	0	0
ESR2	2100	broad.mit.edu	37	14	64724025	64724025	+	Missense_Mutation	SNP	T	T	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:64724025T>A	ENST00000557772.1	-	5	1009	c.1010A>T	c.(1009-1011)gAg>gTg	p.E337V	ESR2_ENST00000555278.1_Missense_Mutation_p.E337V|ESR2_ENST00000554572.1_Missense_Mutation_p.E337V|ESR2_ENST00000553796.1_Missense_Mutation_p.E337V|ESR2_ENST00000542956.1_Missense_Mutation_p.E337V|ESR2_ENST00000358599.5_Missense_Mutation_p.E337V|ESR2_ENST00000357782.2_Missense_Mutation_p.E337V|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000353772.3_Missense_Mutation_p.E337V|ESR2_ENST00000341099.4_Missense_Mutation_p.E337V|ESR2_ENST00000267525.6_Intron	NM_001214903.1	NP_001201832.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	337	Steroid-binding.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	CATTAACACCTCCATCCAACA	0.547000													50	105					0	0	1	0	0
ASB5	140458	broad.mit.edu	37	4	177142361	177142361	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr4:177142361G>A	ENST00000296525.3	-	5	728	c.615C>T	c.(613-615)ctC>ctT	p.L205L	ASB5_ENST00000512254.1_Silent_p.L152L	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	205					intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		AAGCTACATAGAGAGGAGTTC	0.418000													33	31					0	0	1	0	0
LRP10	26020	broad.mit.edu	37	14	23346513	23346513	+	Missense_Mutation	SNP	C	C	G			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:23346513C>G	ENST00000359591.4	+	7	2610	c.1919C>G	c.(1918-1920)cCa>cGa	p.P640R	LRP10_ENST00000470660.1_Intron|LRP10_ENST00000546834.1_Intron	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	640	Pro-rich.				endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		GCCCCAGGGCCACTGCCCTCA	0.677000													76	114					0	0	1	0	0
FHDC1	85462	broad.mit.edu	37	4	153896809	153896809	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr4:153896809C>T	ENST00000511601.1	+	12	2554	c.2366C>T	c.(2365-2367)aCc>aTc	p.T789I	FHDC1_ENST00000260008.3_Missense_Mutation_p.T789I			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	789					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)					TCAGAGGGAACCGACTCCAGA	0.612000													60	66					0	0	1	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123165123	123165123	+	Silent	SNP	T	T	C			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr9:123165123T>C	ENST00000349780.4	-	34	5447	c.5268A>G	c.(5266-5268)caA>caG	p.Q1756Q	CDK5RAP2_ENST00000360190.4_Silent_p.Q1677Q|CDK5RAP2_ENST00000480467.1_5'UTR|CDK5RAP2_ENST00000359309.3_Silent_p.Q1715Q|CDK5RAP2_ENST00000360822.3_Silent_p.Q1724Q	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1756	Interaction with CDK5R1 (By similarity).|Interaction with PCNT and AKAP9.				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TGGGAGCCTCTTGGGTTTGAA	0.582000													26	32					0	0	1	0	0
RASD2	23551	broad.mit.edu	37	22	35947954	35947954	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr22:35947954G>A	ENST00000216127.4	+	3	1318	c.676G>A	c.(676-678)Gac>Aac	p.D226N		NM_014310.3	NP_055125.2	Q96D21	RHES_HUMAN	RASD family, member 2	226	Interaction with GNB1, GNB2 and GNB3.				locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity			endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						CAAGGAGATGGACGCCTATGG	0.647000													30	47					0	0	1	0	0
KIF13A	63971	broad.mit.edu	37	6	17799532	17799532	+	Missense_Mutation	SNP	C	C	G			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr6:17799532C>G	ENST00000378814.5	-	22	2754	c.2755G>C	c.(2755-2757)Gat>Cat	p.D919H	KIF13A_ENST00000378816.5_Missense_Mutation_p.D919H|KIF13A_ENST00000378826.2_Missense_Mutation_p.D919H|KIF13A_ENST00000378843.2_Missense_Mutation_p.D919H|KIF13A_ENST00000259711.6_Missense_Mutation_p.D919H	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	919					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TACTGGGCATCCTTGGACTGT	0.502000													18	18					0	0	1	0	0
DCLK3	85443	broad.mit.edu	37	3	36779647	36779647	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:36779647C>T	ENST00000416516.2	-	2	994	c.504G>A	c.(502-504)aaG>aaA	p.K168K		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	168						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						ACATTGGGCCCTTCCCCATAT	0.562000													42	88					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179408973	179408973	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:179408973C>T	ENST00000589042.1	-	345	96207	c.95983G>A	c.(95983-95985)Gaa>Aaa	p.E31995K	TTN_ENST00000591111.1_Missense_Mutation_p.E30354K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E23122K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E23055K|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E29427K|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E22930K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	30354	Ig-like 142.						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)			TCGCTGTATTCGCTCATACCC	0.408000													36	51					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13759047	13759047	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:13759047C>T	ENST00000265104.4	-	61	10431	c.10327G>A	c.(10327-10329)Gat>Aat	p.D3443N		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3443	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTCTGCAGATCCTGCATGGCC	0.547000									Kartagener syndrome				58	228					0	0	1	0	0
C2orf15	150590	broad.mit.edu	37	2	99763946	99763946	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:99763946G>A	ENST00000302513.2	+	3	652	c.16G>A	c.(16-18)Ggg>Agg	p.G6R	TSGA10_ENST00000393483.3_Intron|C2orf15_ENST00000409684.1_Missense_Mutation_p.G6R	NM_144706.2	NP_653307.1	Q8WU43	CB015_HUMAN	chromosome 2 open reading frame 15	6										autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(1)	6						CTCAACTCTGGGGAAGTTAAG	0.398000													30	61					0	0	1	0	0
SLC25A27	9481	broad.mit.edu	37	6	46623636	46623636	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr6:46623636C>T	ENST00000371347.5	+	2	415	c.163C>T	c.(163-165)Ctt>Ttt	p.L55F	SLC25A27_ENST00000411689.2_Missense_Mutation_p.L55F|SLC25A27_ENST00000452689.2_5'UTR	NM_001204051.1|NM_004277.4	NP_001190980.1|NP_004268.3	O95847	UCP4_HUMAN	solute carrier family 25, member 27	55					generation of precursor metabolites and energy|transport	integral to membrane|mitochondrial inner membrane				central_nervous_system(1)|kidney(1)|lung(4)|prostate(1)|urinary_tract(1)	8			Lung(136;0.192)			AGAAGCAGCTCTTGCTCGGTT	0.483000													57	62					0	0	1	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103410646	103410646	+	Silent	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:103410646G>A	ENST00000361246.2	-	30	4278	c.3990C>T	c.(3988-3990)ctC>ctT	p.L1330L		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	1330	CNH.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CCGTGGCCATGAGCTGGCAGC	0.567000													13	27					0	0	1	0	0
HECTD4	283450	broad.mit.edu	37	12	112630426	112630426	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr12:112630426G>A	ENST00000550722.1	-	59	9187	c.8792C>T	c.(8791-8793)cCc>cTc	p.P2931L	HECTD4_ENST00000430131.2_Missense_Mutation_p.P2655L|HECTD4_ENST00000377560.5_Missense_Mutation_p.P2905L	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		AGCGGTGGGGGGAGGTGCAAG	0.617000													16	3					0	0	1	0	0
CRISP2	7180	broad.mit.edu	37	6	49666134	49666134	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr6:49666134C>T	ENST00000339139.4	-	7	594	c.358G>A	c.(358-360)Gat>Aat	p.D120N		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	120						extracellular space		p.D120H(1)		kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TAGACAAAATCTAGGATCTCG	0.423000													59	67					0	0	1	0	0
BTNL3	10917	broad.mit.edu	37	5	180432442	180432442	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:180432442G>A	ENST00000342868.6	+	8	1155	c.971G>A	c.(970-972)aGa>aAa	p.R324K		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	324	B30.2/SPRY.				lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			TCTGAGAAGAGATTTACAAGG	0.512000													44	82					0	0	1	0	0
MARCH6	10299	broad.mit.edu	37	5	10426508	10426508	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr5:10426508G>A	ENST00000274140.5	+	24	2512	c.2380G>A	c.(2380-2382)Gca>Aca	p.A794T	MARCH6_ENST00000510792.1_Missense_Mutation_p.A492T|MARCH6_ENST00000503788.1_Missense_Mutation_p.A689T|MARCH6_ENST00000449913.2_Missense_Mutation_p.A746T	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	794					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	p.A794T(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						TCAGGTTTACGCAAATGGCAT	0.413000													138	85					0	0	1	0	0
MON1A	84315	broad.mit.edu	37	3	49947863	49947863	+	Silent	SNP	C	C	T			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:49947863C>T	ENST00000417270.1	-	5	1785	c.1092G>A	c.(1090-1092)tcG>tcA	p.S364S	MON1A_ENST00000296473.3_Silent_p.S453S|MON1A_ENST00000455683.2_Silent_p.S291S|CTD-2330K9.3_ENST00000419183.1_Intron			Q86VX9	MON1A_HUMAN	MON1 secretory trafficking family member A	356							protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CGCGAAAGGACGAGGAGGAAC	0.602000													21	39					0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29295647	29295649	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:29295647_29295649delTCC	ENST00000331664.5	-	1	1478_1480	c.1479_1481delGGA	c.(1477-1482)gaa>ga	p.EE493del		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	493					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CATTTTGTCTTCCTCCTCCTCCT	0.542													7	264	---	---	---	---					
ANKRD36BP2	645784	broad.mit.edu	37	2	89083945	89083946	+	RNA	INS	-	-	GC			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:89083945_89083946insGC	ENST00000393525.3	+	0	576																											GTATTCCTTTTTTTTCAGTGTA	0.347													5	5	---	---	---	---					
C2orf82	389084	broad.mit.edu	37	2	233740763	233740763	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr2:233740763delC	ENST00000409230.1	+	3	434	c.187delC	c.(187-189)ccfs	p.P64fs	C2orf82_ENST00000331342.2_Frame_Shift_Del_p.P64fs|C2orf82_ENST00000409533.1_Frame_Shift_Del_p.P64fs			Q6UX34	CB082_HUMAN	chromosome 2 open reading frame 82	64						integral to membrane											GGACACCGGTCCCCCAGCCCC	0.781													2	4	---	---	---	---					
RAD54L2	23132	broad.mit.edu	37	3	51661637	51661637	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:51661637delC	ENST00000409535.1	+	3	333	c.208delC	c.(208-210)ggfs	p.R70fs		NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	70						nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		GCAGCCGCCGCGGTGCACTTC	0.547													4	6	---	---	---	---					
CD96	10225	broad.mit.edu	37	3	111197863	111197868	+	RNA	DEL	CACACA	CACACA	-	rs71968470		TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:111197863_111197868delCACACA	ENST00000497896.1	-	0	208																											CGAACAGCCTcacacacacacacaca	0.544													3	5	---	---	---	---					
NRROS	375387	broad.mit.edu	37	3	196388426	196388426	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr3:196388426delC	ENST00000328557.4	+	3	2115	c.1912delC	c.(1912-1914)ctfs	p.P638fs		NM_198565.1	NP_940967.1			negative regulator of reactive oxygen species																		CGGAGGTGTGCCTCGGGACTG	0.672													62	70	---	---	---	---					
DOPEY1	23033	broad.mit.edu	37	6	83832631	83832633	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr6:83832631_83832633delCTT	ENST00000349129.2	+	12	1530_1532	c.1270_1272delCTT	c.(1270-1272)del	p.L425del	DOPEY1_ENST00000369739.3_In_Frame_Del_p.L416del|DOPEY1_ENST00000237163.5_In_Frame_Del_p.L416del	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	425					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		AACTGCTAACCTTCTCTTTAATT	0.281													6	3	---	---	---	---					
LINCR-0001	101929191	broad.mit.edu	37	8	10335889	10335903	+	RNA	DEL	GGCTGCAGTGGTTGT	GGCTGCAGTGGTTGT	-	rs55641852		TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr8:10335889_10335903delGGCTGCAGTGGTTGT	ENST00000517732.1	+	0	223				RP11-981G7.3_ENST00000520494.1_lincRNA																							GTGGTTGTCAGGCTGCAGTGGTTGTGGCTGCAGTG	0.586													5	5	---	---	---	---					
TRAV9-2	28677	broad.mit.edu	37	14	22409539	22409539	+	RNA	DEL	C	C	-	rs2178778		TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:22409539delC	ENST00000390441.2	+	0	102																											ctctctctctctTTTTTTTTT	0.428													4	5	---	---	---	---					
ADCK1	57143	broad.mit.edu	37	14	78399663	78399679	+	Frame_Shift_Del	DEL	CGTGTGAAGGGGTTGAA	CGTGTGAAGGGGTTGAA	-	rs143349230		TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr14:78399663_78399679delCGTGTGAAGGGGTTGAA	ENST00000238561.5	+	11	1600_1616	c.1501_1517delCGTGTGAAGGGGTTGAA	c.(1501-1518)gfs	p.RVKGLK501fs	ADCK1_ENST00000556560.1_3'UTR|ADCK1_ENST00000341211.5_Frame_Shift_Del_p.RVKGLK433fs	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	508						extracellular region	ATP binding|protein serine/threonine kinase activity	p.G436G(1)|p.G504G(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		GCTCATCCTGCGTGTGAAGGGGTTGAAGCTGGCTGAC	0.525													19	98	---	---	---	---					
ZNF181	339318	broad.mit.edu	37	19	35232496	35232496	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chr19:35232496delC	ENST00000392232.3	+	6	1510	c.1342delC	c.(1342-1344)aafs	p.Q448fs	ZNF181_ENST00000492450.1_Frame_Shift_Del_p.Q404fs|ZNF181_ENST00000459757.1_Frame_Shift_Del_p.Q403fs			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	404					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TATGGAGAAACAATATGAATG	0.383													32	67	---	---	---	---					
PRICKLE3	4007	broad.mit.edu	37	X	49036095	49036095	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chrX:49036095delC	ENST00000376317.3	-	4	467	c.373delG	c.(373-375)agfs	p.E125fs	PRICKLE3_ENST00000376310.3_Frame_Shift_Del_p.E125fs|PRICKLE3_ENST00000536904.1_Intron|PRICKLE3_ENST00000540849.1_Frame_Shift_Del_p.E57fs|PRICKLE3_ENST00000538114.1_Intron	NM_006150.3	NP_006141.2	O43900	PRIC3_HUMAN	prickle homolog 3 (Drosophila)	125	PET.						protein binding|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						CTGTATTTCTCCCCAGGACTG	0.542													2	4	---	---	---	---					
AMMECR1	9949	broad.mit.edu	37	X	109561058	109561060	+	In_Frame_Del	DEL	CCG	CCG	-			TCGA-FW-A3TU-06A-11D-A23B-08	TCGA-FW-A3TU-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e103dfb4-279c-40fd-a08f-c47997512d46	d020b46e-6365-4ac8-9874-88cbf9316bf7	g.chrX:109561058_109561060delCCG	ENST00000262844.5	-	1	407_409	c.240_242delCGG	c.(238-243)ggg>gg	p.GG80del	AMMECR1_ENST00000372057.1_5'UTR|AMMECR1_ENST00000372059.2_In_Frame_Del_p.GG80del	NM_015365.2	NP_056180.1	Q9Y4X0	AMER1_HUMAN	Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1	80	Gly/Ser-rich.									large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						GGCGATCCCCCCGCCGCCGCCGC	0.734													2	4	---	---	---	---					
