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
BAZ2B	29994	broad.mit.edu	37	2	160257136	160257136	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:160257136C>G	ENST00000392783.2	-	17	3367	c.2872G>C	c.(2872-2874)Gaa>Caa	p.E958Q	BAZ2B_ENST00000392782.1_Missense_Mutation_p.E922Q|BAZ2B_ENST00000355831.2_Missense_Mutation_p.E924Q|BAZ2B_ENST00000343439.5_Missense_Mutation_p.E858Q|AC008277.1_ENST00000594921.1_RNA|AC008277.1_ENST00000420020.1_RNA	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	958	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						GCTCGAAGTTCTTTTTCCATT	0.249000													13	39					0	0	1	0	0
ZC3H6	376940	broad.mit.edu	37	2	113089651	113089651	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:113089651G>A	ENST00000409871.1	+	12	3557	c.3156G>A	c.(3154-3156)agG>agA	p.R1052R	ZC3H6_ENST00000343936.4_Silent_p.R1052R	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	1052							nucleic acid binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						ATGACCCTAGGGATCACGGTT	0.453000													25	40					0	0	1	0	0
GAS8	2622	broad.mit.edu	37	16	90099213	90099213	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr16:90099213C>G	ENST00000268699.4	+	4	498	c.376C>G	c.(376-378)Ctg>Gtg	p.L126V	GAS8_ENST00000536122.1_Missense_Mutation_p.L101V|GAS8_ENST00000540721.1_3'UTR	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8	126	Microtubule-binding.				negative regulation of cell proliferation|sperm motility	cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum	protein binding			endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		AGTCATGAAGCTGGCACAGAA	0.552000													9	166					0	0	1	0	0
PTPN4	5775	broad.mit.edu	37	2	120725515	120725515	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:120725515G>A	ENST00000263708.2	+	26	3432	c.2661G>A	c.(2659-2661)atG>atA	p.M887I	PTPN4_ENST00000544261.1_Missense_Mutation_p.M520I	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	887	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	TAAGAACAATGAGAGATCAGC	0.373000													52	85					0	0	1	0	0
ZNF184	7738	broad.mit.edu	37	6	27425078	27425078	+	Silent	SNP	T	T	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr6:27425078T>A	ENST00000211936.6	-	4	470	c.186A>T	c.(184-186)acA>acT	p.T62T	ZNF184_ENST00000377419.1_Silent_p.T62T	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	62	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						AGACCAGGTGTGTATAATTTT	0.448000													12	134					0	0	1	0	0
SLC4A4	8671	broad.mit.edu	37	4	72263299	72263299	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr4:72263299C>A	ENST00000340595.3	+	4	800	c.604C>A	c.(604-606)Cca>Aca	p.P202T	SLC4A4_ENST00000351898.6_Missense_Mutation_p.P246T|SLC4A4_ENST00000512686.1_Missense_Mutation_p.P202T|SLC4A4_ENST00000264485.5_Missense_Mutation_p.P246T|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000425175.1_Missense_Mutation_p.P246T	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	246						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TCCAGGTAGCCCAGCCATGAC	0.368000													5	79					0.014758	0.0149187	1	1	0
SPTAN1	6709	broad.mit.edu	37	9	131394948	131394948	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr9:131394948G>A	ENST00000372739.3	+	55	7221	c.7111G>A	c.(7111-7113)Gaa>Aaa	p.E2371K	SPTAN1_ENST00000358161.5_Missense_Mutation_p.E2371K|SPTAN1_ENST00000372731.4_Missense_Mutation_p.E2366K	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	2366	EF-hand 2.				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						GGAGGAAGGGGAACCTGACCC	0.567000													58	35					0	0	1	0	0
ING2	3622	broad.mit.edu	37	4	184431737	184431737	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr4:184431737G>A	ENST00000302327.3	+	2	677	c.475G>A	c.(475-477)Gaa>Aaa	p.E159K	ING2_ENST00000434682.2_Missense_Mutation_p.E119K	NM_001564.2	NP_001555.1	Q9H160	ING2_HUMAN	inhibitor of growth family, member 2	159					chromatin modification|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of growth|signal transduction|transcription, DNA-dependent	CCAAT-binding factor complex|Sin3 complex	chromatin binding|DNA binding|protein complex binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	7		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|all_hematologic(60;0.0207)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		GCGGACCAGTGAAAGCCGTGA	0.458000													38	48					0	0	1	0	0
CFAP221	200373	broad.mit.edu	37	2	120385260	120385260	+	Silent	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:120385260G>C	ENST00000602047.1	+	17	1802	c.690G>C	c.(688-690)cgG>cgC	p.R230R	PCDP1_ENST00000413369.3_Silent_p.R516R|PCDP1_ENST00000597189.1_3'UTR			Q4G0U5	PCDP1_HUMAN		516						cilium	calmodulin binding					Colorectal(110;0.196)					TCCTGAGGCGGATCAGTCAGG	0.483000													30	227					0	0	1	0	0
IGHV7-81	28378	broad.mit.edu	37	14	107282793	107282793	+	RNA	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr14:107282793C>G	ENST00000390639.2	-	0	403																											CATGGTGTATCTCGCACAGTA	0.517000													15	159					0	0	1	0	0
SERPINF1	5176	broad.mit.edu	37	17	1680704	1680704	+	Silent	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:1680704C>G	ENST00000254722.4	+	8	1384	c.1221C>G	c.(1219-1221)ctC>ctG	p.L407L		NM_002615.5	NP_002606.3	P36955	PEDF_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1	407					cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis	extracellular space|melanosome	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						GGGCCCTTCTCTTCATTGGCA	0.542000													29	202					0	0	1	0	0
TTC39B	158219	broad.mit.edu	37	9	15187022	15187022	+	Silent	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr9:15187022C>T	ENST00000512701.2	-	15	1443	c.1407G>A	c.(1405-1407)gtG>gtA	p.V469V	TTC39B_ENST00000355694.2_Silent_p.V403V|TTC39B_ENST00000380850.4_Silent_p.V456V|TTC39B_ENST00000507993.1_Silent_p.V304V|TTC39B_ENST00000507285.1_Silent_p.V304V|TTC39B_ENST00000297615.5_Silent_p.V400V			Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B								binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						CTTTCAAGAACACATAAGTTG	0.383000													39	39					0	0	1	0	0
MATN4	8785	broad.mit.edu	37	20	43932954	43932954	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr20:43932954G>A	ENST00000537548.1	-	4	801	c.557C>T	c.(556-558)tCg>tTg	p.S186L	MATN4_ENST00000360607.6_Missense_Mutation_p.S186L|MATN4_ENST00000372754.1_Missense_Mutation_p.S186L|MATN4_ENST00000372751.4_Intron|MATN4_ENST00000372756.1_Missense_Mutation_p.S186L|MATN4_ENST00000342716.4_Missense_Mutation_p.S186L|MATN4_ENST00000353917.5_Missense_Mutation_p.S186L			O95460	MATN4_HUMAN	matrilin 4	186	VWFA 1.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				TAGCGGGGGCGATGCCATGGC	0.682000													49	76					0	0	1	0	0
TUBA4B	80086	broad.mit.edu	37	2	220136071	220136071	+	RNA	SNP	T	T	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:220136071T>C	ENST00000490341.1	+	0	541					NR_003063.1																						GCCCTACAACTCTATCCTGAC	0.522000													8	130					0	0	1	0	0
EIF2D	1939	broad.mit.edu	37	1	206782760	206782760	+	Silent	SNP	A	A	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:206782760A>C	ENST00000271764.2	-	3	508	c.300T>G	c.(298-300)ccT>ccG	p.P100P	EIF2D_ENST00000367114.3_Silent_p.P100P	NM_006893.2	NP_008824.2	P41214	EIF2D_HUMAN	eukaryotic translation initiation factor 2D	100	PUA.				intracellular protein transport	cytoplasm	protein binding|receptor activity|translation initiation factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						CGAGCACCAGAGGCCATGTTG	0.438000													12	105					0	0	1	0	0
ULK1	8408	broad.mit.edu	37	12	132379547	132379547	+	Translation_Start_Site	SNP	A	A	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr12:132379547A>G	ENST00000321867.4	+	1	352	c.1A>G	c.(1-3)Atg>Gtg	p.M1V		NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	1					autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		cgccTGCGCCATGGAGCCCGG	0.806000													4	7					0	0	1	0	0
SETD1A	9739	broad.mit.edu	37	16	30990892	30990892	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr16:30990892C>A	ENST00000262519.8	+	14	4471	c.3785C>A	c.(3784-3786)aCc>aAc	p.T1262N		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1262					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CTGGCCCTGACCCCTGCCCGG	0.726000													10	36					0.00621372	0.00636221	1	1	0
MPP2	4355	broad.mit.edu	37	17	41960382	41960382	+	Silent	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:41960382G>C	ENST00000269095.4	-	5	646	c.342C>G	c.(340-342)acC>acG	p.T114T	MPP2_ENST00000461854.1_Silent_p.T138T|MPP2_ENST00000520305.1_5'UTR|MPP2_ENST00000523501.1_Silent_p.T103T|MPP2_ENST00000377184.3_Silent_p.T131T|MPP2_ENST00000536246.1_Silent_p.T103T|MPP2_ENST00000473246.1_5'UTR|MPP2_ENST00000518766.1_Silent_p.T159T	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365	Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	138	L27 2.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		GTGTCTCATAGGTCTTTGAGG	0.632000													8	98					0	0	1	0	0
CBX4	8535	broad.mit.edu	37	17	77808858	77808858	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:77808858G>C	ENST00000269397.4	-	5	760	c.583C>G	c.(583-585)Ccc>Gcc	p.P195A	CBX4_ENST00000448310.1_3'UTR	NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	195	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CACTTGTCGGGCGGGTGGCTC	0.711000											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	111					0	0	1	0	0
TBC1D9	23158	broad.mit.edu	37	4	141600892	141600892	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr4:141600892C>G	ENST00000442267.2	-	4	540	c.466G>C	c.(466-468)Gag>Cag	p.E156Q		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	156	GRAM 1.					intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TTCTCTTCCTCTGGCATCCCA	0.423000													18	25					0	0	1	0	0
MS4A14	84689	broad.mit.edu	37	11	60183468	60183468	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr11:60183468C>T	ENST00000300187.6	+	5	1304	c.1027C>T	c.(1027-1029)Cat>Tat	p.H343Y	MS4A14_ENST00000395005.2_Missense_Mutation_p.H326Y|MS4A14_ENST00000531787.1_Missense_Mutation_p.H231Y|MS4A14_ENST00000395001.1_3'UTR|MS4A14_ENST00000531783.1_Missense_Mutation_p.H376Y	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	343						integral to membrane	receptor activity	p.H343Y(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						TACATCATCCCATGTCAAACA	0.438000													10	69					0	0	1	0	0
SLC26A11	284129	broad.mit.edu	37	17	78195377	78195377	+	Silent	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:78195377G>C	ENST00000361193.3	+	3	298	c.18G>C	c.(16-18)acG>acC	p.T6T	SLC26A11_ENST00000411502.3_Silent_p.T6T|SLC26A11_ENST00000546047.2_Silent_p.T6T|SLC26A11_ENST00000571602.1_3'UTR|SLC26A11_ENST00000572725.1_Silent_p.T6T	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	solute carrier family 26 (anion exchanger), member 11	6						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CTTCGGTGACGGCGCTGGGTC	0.687000													22	20					0	0	1	0	0
ASXL1	171023	broad.mit.edu	37	20	31023699	31023699	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr20:31023699C>T	ENST00000375687.4	+	13	3608	c.3184C>T	c.(3184-3186)Cct>Tct	p.P1062S	ASXL1_ENST00000306058.5_Missense_Mutation_p.P1057S	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	1062					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GATGGTTGCTCCTCAGAGCTG	0.547000			"""F, N, Mis"""		"""MDS, CMML"""								93	156					0	0	1	0	0
KLHL20	27252	broad.mit.edu	37	1	173754326	173754326	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:173754326C>T	ENST00000209884.4	+	12	1907	c.1771C>T	c.(1771-1773)Cgg>Tgg	p.R591W	KLHL20_ENST00000546011.1_Missense_Mutation_p.R402W	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	591					cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity	p.R591W(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						GAATTACCGTCGGCTAGGGGG	0.363000													32	44					0	0	1	0	0
BUB1	699	broad.mit.edu	37	2	111399043	111399043	+	Splice_Site	SNP	T	T	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:111399043T>C	ENST00000535254.1	-	21	2633		c.e21-2		BUB1_ENST00000302759.6_Splice_Site|BUB1_ENST00000478175.1_Splice_Site|BUB1_ENST00000409311.1_Intron	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase						apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		AATGGCATTCTAGGAACAATG	0.403000													37	105					0	0	1	0	0
NEK8	284086	broad.mit.edu	37	17	27064966	27064966	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:27064966G>C	ENST00000268766.6	+	7	1053	c.1019G>C	c.(1018-1020)gGg>gCg	p.G340A	AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	340						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					GTGGCAGCTGGGCGCACGCAG	0.672000													10	163					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32936817	32936817	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr13:32936817C>T	ENST00000544455.1	+	17	8190	c.7963C>T	c.(7963-7965)Caa>Taa	p.Q2655*	BRCA2_ENST00000380152.3_Nonsense_Mutation_p.Q2655*	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2655					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GGTGCTTCTTCAACTAAAATA	0.378000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			22	25					0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56480394	56480394	+	Silent	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr12:56480394G>C	ENST00000267101.3	+	4	941	c.501G>C	c.(499-501)gtG>gtC	p.V167V	ERBB3_ENST00000415288.2_Silent_p.V108V|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	167					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GGGACATCGTGAGGGACCGAG	0.493000													30	254					0	0	1	0	0
PRICKLE4	29964	broad.mit.edu	37	6	41754506	41754506	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr6:41754506C>T	ENST00000458694.1	+	8	1042	c.794C>T	c.(793-795)aCt>aTt	p.T265I	PRICKLE4_ENST00000394263.1_Missense_Mutation_p.T265I|PRICKLE4_ENST00000394260.1_Missense_Mutation_p.T225I	NM_013397.5	NP_037529.3	Q2TBC4	PRIC4_HUMAN	prickle homolog 4 (Drosophila)	225						nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	13	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			ACAGGGGAGACTGGACTCGAC	0.662000													14	193					0	0	1	0	0
DFFA	1676	broad.mit.edu	37	1	10523593	10523593	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:10523593G>T	ENST00000377038.3	-	4	593	c.526C>A	c.(526-528)Caa>Aaa	p.Q176K	DFFA_ENST00000377036.2_Missense_Mutation_p.Q176K	NM_004401.2	NP_004392.1	O00273	DFFA_HUMAN	DNA fragmentation factor, 45kDa, alpha polypeptide	176					DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction|negative regulation of apoptosis	cytosol|mitochondrion|nucleoplasm|plasma membrane	deoxyribonuclease activity|identical protein binding			large_intestine(3)|lung(2)	5	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		AGCACCTGTTGGAGTGTGTGC	0.547000													40	167					3.61848e-18	4.07994e-18	1	1	0
KCNT1	57582	broad.mit.edu	37	9	138650354	138650354	+	Splice_Site	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr9:138650354G>A	ENST00000298480.5	+	10	928	c.854G>A	c.(853-855)gGg>gAg	p.G285E	KCNT1_ENST00000371757.2_Splice_Site_p.G285E|KCNT1_ENST00000491806.2_Splice_Site_p.G252E|KCNT1_ENST00000263604.3_Splice_Site_p.G266E|KCNT1_ENST00000487664.1_Splice_Site_p.G237E|KCNT1_ENST00000486577.2_Splice_Site_p.G246E|KCNT1_ENST00000488444.2_Splice_Site_p.G266E|KCNT1_ENST00000490355.2_Splice_Site_p.G266E			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	285						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GTTTTCACGGGGTGAGTGCCG	0.612000													33	31					0	0	1	0	0
ADGRG1	9289	broad.mit.edu	37	16	57687989	57687989	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr16:57687989T>C	ENST00000562631.1	+	5	1244	c.712T>C	c.(712-714)Tgg>Cgg	p.W238R	GPR56_ENST00000388813.5_Missense_Mutation_p.W238R|GPR56_ENST00000379694.4_Missense_Mutation_p.W68R|GPR56_ENST00000388812.4_Missense_Mutation_p.W238R|GPR56_ENST00000568908.1_Missense_Mutation_p.W238R|GPR56_ENST00000538815.1_Missense_Mutation_p.W238R|GPR56_ENST00000567835.1_Missense_Mutation_p.W238R|GPR56_ENST00000562558.1_Missense_Mutation_p.W238R|GPR56_ENST00000568909.1_Missense_Mutation_p.W238R|GPR56_ENST00000379696.3_Missense_Mutation_p.W238R|GPR56_ENST00000456916.1_Missense_Mutation_p.W238R|GPR56_ENST00000544297.1_Missense_Mutation_p.W63R|GPR56_ENST00000540164.2_Missense_Mutation_p.W238R			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	238					brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						CGCCACGGTGTGGAAGCTCCA	0.652000													14	114					0	0	1	0	0
LRIT1	26103	broad.mit.edu	37	10	85991892	85991892	+	Missense_Mutation	SNP	G	G	A	rs75121307		TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr10:85991892G>A	ENST00000372105.3	-	4	1684	c.1663C>T	c.(1663-1665)Cgc>Tgc	p.R555C		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	555						integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						TTTCGGCAGCGCTTCTGAAGA	0.552000													36	52					0	0	1	0	0
SOX6	55553	broad.mit.edu	37	11	16362740	16362740	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr11:16362740C>T	ENST00000352083.6	-	2	132	c.55G>A	c.(55-57)Gca>Aca	p.A19T	SOX6_ENST00000316399.6_Missense_Mutation_p.A19T|SOX6_ENST00000533658.1_5'UTR|SOX6_ENST00000528429.1_Missense_Mutation_p.A19T|SOX6_ENST00000528252.1_Missense_Mutation_p.A19T|SOX6_ENST00000396356.3_Missense_Mutation_p.A19T|SOX6_ENST00000527619.1_Missense_Mutation_p.A22T			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	19					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						TGGGTCATTGCATCCTCTCCA	0.468000													6	107					0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25281419	25281419	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr13:25281419C>T	ENST00000218548.6	+	17	2692	c.2359C>T	c.(2359-2361)Cgc>Tgc	p.R787C	ATP12A_ENST00000381946.3_Missense_Mutation_p.R781C	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	781					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)	CTGCCTAGGTCGCCTGATCTT	0.532000													52	130					0	0	1	0	0
RPGR	6103	broad.mit.edu	37	X	38156597	38156597	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chrX:38156597C>T	ENST00000378505.2	-	11	1530	c.1354G>A	c.(1354-1356)Gag>Aag	p.E452K	RPGR_ENST00000309513.3_Missense_Mutation_p.E390K|RPGR_ENST00000338898.3_Missense_Mutation_p.E452K|RPGR_ENST00000342811.3_Missense_Mutation_p.E452K|RPGR_ENST00000318842.7_Missense_Mutation_p.E452K|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000339363.3_Missense_Mutation_p.E452K	NM_001034853.1	NP_001030025.1	Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	452					intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						AGGTTTCTCTCAGAACATCGT	0.453000													21	36					0	0	1	0	0
IGSF11	152404	broad.mit.edu	37	3	118623621	118623621	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr3:118623621A>G	ENST00000354673.2	-	8	1105	c.725T>C	c.(724-726)aTa>aCa	p.I242T	IGSF11_ENST00000425327.2_Missense_Mutation_p.I242T|IGSF11_ENST00000393775.2_Missense_Mutation_p.I243T|IGSF11_ENST00000441144.2_Missense_Mutation_p.I218T|IGSF11_ENST00000489689.1_Missense_Mutation_p.I219T|IGSF11_ENST00000491903.1_Intron	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	243					cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GGCTCCAGCTATTAGTCCAAT	0.358000													59	248					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82595105	82595105	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr7:82595105T>A	ENST00000333891.9	-	4	4336	c.3999A>T	c.(3997-3999)gaA>gaT	p.E1333D	PCLO_ENST00000423517.2_Missense_Mutation_p.E1333D	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						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						CTTTCCCAGGTTCCACCTGAT	0.373000													32	81					0	0	1	0	0
BTF3	689	broad.mit.edu	37	5	72798768	72798768	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr5:72798768G>A	ENST00000380591.3	+	4	562	c.343G>A	c.(343-345)Gtg>Atg	p.V115M	BTF3_ENST00000335895.8_Missense_Mutation_p.V71M|BTF3_ENST00000514505.2_3'UTR	NM_001037637.1	NP_001032726.1	P20290	BTF3_HUMAN	basic transcription factor 3	115	NAC-A/B.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding			endometrium(1)|large_intestine(2)|lung(2)	5		Lung NSC(167;0.00405)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;2.73e-54)		CCAAGGAACAGTGATCCACTT	0.363000													63	98					0	0	1	0	0
XYLT1	64131	broad.mit.edu	37	16	17232337	17232337	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr16:17232337C>A	ENST00000261381.6	-	8	1723	c.1639G>T	c.(1639-1641)Gac>Tac	p.D547Y	CTD-2576D5.4_ENST00000567344.1_RNA	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	547					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGGTTGTTGTCCACCATGGTG	0.597000													11	102					7.93312e-07	8.36884e-07	1	1	0
ZSCAN9	7746	broad.mit.edu	37	6	28200426	28200426	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr6:28200426G>C	ENST00000425468.2	+	5	973	c.808G>C	c.(808-810)Gag>Cag	p.E270Q	ZSCAN9_ENST00000252207.5_Missense_Mutation_p.E219Q|ZSCAN9_ENST00000531979.1_Missense_Mutation_p.E219Q	NM_001199479.1	NP_001186408.1			zinc finger and SCAN domain containing 9																		AATGTTTAATGAGCAGACCTG	0.458000													13	85					0	0	1	0	0
LHFPL5	222662	broad.mit.edu	37	6	35773642	35773642	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr6:35773642C>G	ENST00000360215.1	+	1	572	c.195C>G	c.(193-195)ttC>ttG	p.F65L	LHFPL5_ENST00000373853.1_Missense_Mutation_p.F65L	NM_182548.3	NP_872354.1	Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	65						integral to membrane				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						TCGGCCTTTTCTCCTACTGCG	0.587000													311	165					0	0	1	0	0
TMEM179B	374395	broad.mit.edu	37	11	62557492	62557492	+	Silent	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr11:62557492C>T	ENST00000333449.4	+	5	638	c.633C>T	c.(631-633)ctC>ctT	p.L211L	TMEM223_ENST00000307366.7_3'UTR|TMEM179B_ENST00000533861.1_3'UTR|TMEM223_ENST00000527073.1_Intron|TMEM223_ENST00000525631.1_Intron	NM_199337.2	NP_955369.1	Q7Z7N9	T179B_HUMAN	transmembrane protein 179B	211						integral to membrane				kidney(1)|large_intestine(1)|liver(1)|lung(1)	4						CAGATGCTCTCGTTGGGTCAC	0.592000													64	107					0	0	1	0	0
DSE	29940	broad.mit.edu	37	6	116757645	116757645	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr6:116757645C>T	ENST00000331677.3	+	7	2458	c.2014C>T	c.(2014-2016)Cag>Tag	p.Q672*	DSE_ENST00000359564.2_Nonsense_Mutation_p.Q672*|DSE_ENST00000452085.3_Nonsense_Mutation_p.Q672*|DSE_ENST00000537543.1_Nonsense_Mutation_p.Q691*			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	672					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		TATAGATGTTCAGAGCTTCAC	0.517000													55	127					0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140579906	140579906	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr5:140579906G>C	ENST00000354757.3	+	1	559	c.559G>C	c.(559-561)Gac>Cac	p.D187H	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		187	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGTCATTCCAGACAATAGGAA	0.448000													13	96					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94004479	94004479	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr14:94004479C>T	ENST00000553484.1	+	12	1421	c.1267C>T	c.(1267-1269)Cac>Tac	p.H423Y	UNC79_ENST00000393151.2_Missense_Mutation_p.H423Y|UNC79_ENST00000555664.1_Missense_Mutation_p.H423Y|UNC79_ENST00000256339.4_Missense_Mutation_p.H246Y			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	423						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						TGCGGAGACTCACCTCTATCA	0.592000													10	59					0	0	1	0	0
CCDC17	149483	broad.mit.edu	37	1	46086690	46086690	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:46086690G>A	ENST00000421127.2	-	11	1600	c.1457C>T	c.(1456-1458)tCa>tTa	p.S486L	CCDC17_ENST00000445048.2_Intron|CCDC17_ENST00000464739.1_5'UTR|CCDC17_ENST00000528266.1_Missense_Mutation_p.S495L|CCDC17_ENST00000343901.2_Missense_Mutation_p.S463L	NM_001114938.2|NM_001190182.1	NP_001108410.2|NP_001177111.1	Q96LX7	CCD17_HUMAN	coiled-coil domain containing 17	495										kidney(1)|large_intestine(1)|lung(1)|ovary(2)	5	Acute lymphoblastic leukemia(166;0.155)					TAGTCCAAGTGAGACCCAAGC	0.592000													26	26					0	0	1	0	0
OGDH	4967	broad.mit.edu	37	7	44736090	44736090	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr7:44736090G>T	ENST00000222673.5	+	14	1876	c.1834G>T	c.(1834-1836)Gat>Tat	p.D612Y	OGDH_ENST00000444676.1_Missense_Mutation_p.D627Y|OGDH_ENST00000439616.2_Missense_Mutation_p.D462Y|OGDH_ENST00000449767.1_Missense_Mutation_p.D608Y|OGDH_ENST00000543843.1_Missense_Mutation_p.D563Y|OGDH_ENST00000447398.1_Missense_Mutation_p.D623Y	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	612					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	TCTGACGGAGGATATTCTGAC	0.527000													21	102					1.96292e-10	2.16077e-10	1	1	0
NGFR	4804	broad.mit.edu	37	17	47590264	47590264	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:47590264C>A	ENST00000172229.3	+	6	1302	c.1177C>A	c.(1177-1179)Cag>Aag	p.Q393K	RP5-1029K10.2_ENST00000514506.1_RNA|NGFR_ENST00000504201.1_Missense_Mutation_p.Q299K	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor	393	Death.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					CTGGGCCACCCAGGACAGCGC	0.692000													28	34					7.07758e-08	7.50897e-08	1	1	0
FCN3	8547	broad.mit.edu	37	1	27699711	27699711	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:27699711C>G	ENST00000270879.4	-	5	314	c.309G>C	c.(307-309)ttG>ttC	p.L103F	FCN3_ENST00000354982.2_Missense_Mutation_p.L92F	NM_003665.2	NP_003656.2	O75636	FCN3_HUMAN	ficolin (collagen/fibrinogen domain containing) 3	103	Fibrinogen C-terminal.				complement activation, lectin pathway|signal transduction	collagen|extracellular space	receptor binding|sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		ACCAGCCGCTCAAGGTGGCGC	0.642000													34	71					0	0	1	0	0
NBPF20	100288142	broad.mit.edu	37	1	148341967	148341967	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:148341967G>T	ENST00000369202.1	-	6	803	c.606C>A	c.(604-606)gaC>gaA	p.D202E	NBPF20_ENST00000414710.2_Missense_Mutation_p.D202E					neuroblastoma breakpoint family, member 20											breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	27						CCTCCAGTGAGTCCTCAGGGA	0.502000													30	1035					8.60227e-14	9.64078e-14	1	1	0
SLC2A10	81031	broad.mit.edu	37	20	45354635	45354635	+	Silent	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr20:45354635C>A	ENST00000359271.2	+	2	1210	c.960C>A	c.(958-960)gcC>gcA	p.A320A		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	320						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				TCAGCTTTGCCGTGCCCATGG	0.657000													22	114					1.10923e-09	1.21383e-09	1	1	0
SCD5	79966	broad.mit.edu	37	4	83557961	83557961	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr4:83557961G>A	ENST00000319540.4	-	4	904	c.585C>T	c.(583-585)tcC>tcT	p.S195S		NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	195					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				TGAGCACCACGGAGATCTTAT	0.517000													21	19					0	0	1	0	0
ABCC5	10057	broad.mit.edu	37	3	183670874	183670874	+	Splice_Site	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr3:183670874C>T	ENST00000334444.6	-	18	2907	c.2667G>A	c.(2665-2667)ggG>ggA	p.G889G	ABCC5_ENST00000265586.6_Splice_Site_p.G889G	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	889	ABC transmembrane type-1 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GTAACCTTACCCCGCTTCCTT	0.463000													57	109					0	0	1	0	0
GSDMD	79792	broad.mit.edu	37	8	144643221	144643221	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr8:144643221C>T	ENST00000526406.1	+	8	1512	c.629C>T	c.(628-630)tCa>tTa	p.S210L	GSDMD_ENST00000262580.4_Missense_Mutation_p.S210L|GSDMD_ENST00000533063.1_Missense_Mutation_p.S258L	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	210										breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						ACCATCCCCTCAGGCAGCACC	0.667000													6	50					0	0	1	0	0
EDC3	80153	broad.mit.edu	37	15	74963915	74963915	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr15:74963915T>G	ENST00000315127.4	-	3	546	c.365A>C	c.(364-366)gAt>gCt	p.D122A	EDC3_ENST00000568176.1_Missense_Mutation_p.D122A|EDC3_ENST00000426797.3_Missense_Mutation_p.D122A	NM_001142444.1|NM_025083.3	NP_001135916.1|NP_079359.2	Q96F86	EDC3_HUMAN	enhancer of mRNA decapping 3	122					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						GCTCTTCACATCTGTCCTCTT	0.522000													9	146					0	0	1	0	0
PITPNM1	9600	broad.mit.edu	37	11	67269826	67269826	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr11:67269826C>T	ENST00000356404.3	-	4	577	c.352G>A	c.(352-354)Gat>Aat	p.D118N	PITPNM1_ENST00000436757.2_Missense_Mutation_p.D118N|PITPNM1_ENST00000534749.1_Missense_Mutation_p.D118N	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	118					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						TGCCCCCCATCAGGCAGGTAA	0.607000													68	199					0	0	1	0	0
ORAI3	93129	broad.mit.edu	37	16	30964944	30964944	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr16:30964944G>C	ENST00000318663.4	+	2	891	c.667G>C	c.(667-669)Gag>Cag	p.E223Q	AC135048.13_ENST00000566056.1_RNA|ORAI3_ENST00000566237.1_Missense_Mutation_p.E223Q|ORAI3_ENST00000562699.1_Intron	NM_152288.2	NP_689501.1	Q9BRQ5	ORAI3_HUMAN	ORAI calcium release-activated calcium modulator 3	223						integral to membrane	protein binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6						GTCCCAAGCTGAGCCAGCCTG	0.672000											OREG0023742	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	373					0	0	1	0	0
DYRK4	8798	broad.mit.edu	37	12	4722735	4722735	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr12:4722735T>C	ENST00000540757.2	+	13	1539	c.1379T>C	c.(1378-1380)gTt>gCt	p.V460A	DYRK4_ENST00000545342.1_Missense_Mutation_p.V97A|RP11-500M8.7_ENST00000536588.1_Intron|DYRK4_ENST00000010132.5_Missense_Mutation_p.V460A|DYRK4_ENST00000543431.1_Missense_Mutation_p.V459A	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	460						Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			ACGAAGCATGTTCAGCATTCA	0.493000													10	89					0	0	1	0	0
BLOC1S5-TXNDC5	100526836	broad.mit.edu	37	6	7904949	7904949	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr6:7904949G>A	ENST00000439343.2	-	5	379	c.380C>T	c.(379-381)aCa>aTa	p.T127I	TXNDC5_ENST00000539054.1_Missense_Mutation_p.H19Y|TXNDC5_ENST00000379757.4_Missense_Mutation_p.H91Y|TXNDC5_ENST00000473453.1_5'UTR																							CGCTGGCAGTGTCCACACCTG	0.547000													55	46					0	0	1	0	0
MGAT5B	146664	broad.mit.edu	37	17	74936492	74936492	+	Silent	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:74936492C>T	ENST00000569840.2	+	14	2167	c.1593C>T	c.(1591-1593)atC>atT	p.I531I	MGAT5B_ENST00000301618.4_Silent_p.I529I|MGAT5B_ENST00000428789.2_Silent_p.I540I	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	531						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						AGCTCTTCATCGGGTTTGGCT	0.662000													85	180					0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121747003	121747003	+	Silent	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:121747003G>C	ENST00000452319.1	+	14	3573	c.3513G>C	c.(3511-3513)ctG>ctC	p.L1171L	GLI2_ENST00000314490.11_Intron|GLI2_ENST00000361492.4_Silent_p.L1171L			P10070	GLI2_HUMAN	GLI family zinc finger 2	1171					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)				AGGGCAACCTGGCGGTGGTGC	0.632000													5	67					0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42005113	42005113	+	Silent	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr7:42005113C>A	ENST00000395925.3	-	15	3642	c.3558G>T	c.(3556-3558)ccG>ccT	p.P1186P	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1186					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CGCGAGTCTGCGGCACAGCGG	0.652000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				92	179					3.61922e-38	4.2351e-38	1	1	0
MDH1B	130752	broad.mit.edu	37	2	207619970	207619970	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:207619970G>C	ENST00000374412.3	-	5	948	c.673C>G	c.(673-675)Ctg>Gtg	p.L225V	MDH1B_ENST00000392214.2_Intron|MDH1B_ENST00000449792.1_Missense_Mutation_p.L127V|MDH1B_ENST00000454776.2_Missense_Mutation_p.L225V	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	225					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		CAGTCCTCCAGAGTGAACACC	0.577000													44	35					0	0	1	0	0
RTN4RL2	349667	broad.mit.edu	37	11	57243961	57243961	+	Silent	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr11:57243961C>G	ENST00000335099.3	+	3	1157	c.840C>G	c.(838-840)cgC>cgG	p.R280R		NM_178570.1	NP_848665.1	Q86UN3	R4RL2_HUMAN	reticulon 4 receptor-like 2	280	LRRCT.				axon regeneration	anchored to plasma membrane	receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(2)	6						AGCGCGCGCGCGTGTCCAGCT	0.766000													5	4					0	0	1	0	0
C5orf42	65250	broad.mit.edu	37	5	37169135	37169135	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr5:37169135C>T	ENST00000274258.7	-	34	7218	c.3631G>A	c.(3631-3633)Gac>Aac	p.D1211N	C5orf42_ENST00000425232.2_Missense_Mutation_p.D2331N|C5orf42_ENST00000508244.1_Missense_Mutation_p.D2331N			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	2331								p.D2331N(1)|p.D1211N(1)		breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			ACTGAAGAGTCCTGTTGAGGT	0.388000													55	96					0	0	1	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161021373	161021373	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:161021373G>C	ENST00000368013.3	-	10	1471	c.1151C>G	c.(1150-1152)tCt>tGt	p.S384C	ARHGAP30_ENST00000368016.3_Missense_Mutation_p.S384C|ARHGAP30_ENST00000368015.1_Missense_Mutation_p.S207C	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	384					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GCCTGGTTCAGAGTTTGTGCC	0.607000													47	257					0	0	1	0	0
PKP4	8502	broad.mit.edu	37	2	159477589	159477589	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:159477589G>C	ENST00000389757.3	+	5	493	c.368G>C	c.(367-369)gGa>gCa	p.G123A	PKP4_ENST00000389759.3_Missense_Mutation_p.G123A	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4	123					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						CCAGAACAAGGAACCCTCTAT	0.408000										HNSCC(62;0.18)			6	102					0	0	1	0	0
PCDHB17P	54661	broad.mit.edu	37	5	140537180	140537180	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr5:140537180C>T	ENST00000539533.1	+	1	1604	c.1604C>T	c.(1603-1605)tCa>tTa	p.S535L																								GTGGGCGCCTCAGACCGCGGT	0.652000													109	105					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100693838	100693838	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr7:100693838G>A	ENST00000306151.4	+	7	12860	c.12796G>A	c.(12796-12798)Gac>Aac	p.D4266N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4266	SEA.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GACAGTATTGGACAATGCCAC	0.463000													27	80					0	0	1	0	0
SLC34A2	10568	broad.mit.edu	37	4	25677816	25677816	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr4:25677816G>A	ENST00000382051.3	+	13	1568	c.1518G>A	c.(1516-1518)ccG>ccA	p.P506P	SLC34A2_ENST00000503434.1_Silent_p.P505P|SLC34A2_ENST00000504570.1_Silent_p.P505P	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	506					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				ACCCGATCCCGTTCACTCGCC	0.567000			T	ROS1	NSCLC								34	121					0	0	1	0	0
GABRB1	2560	broad.mit.edu	37	4	47033934	47033934	+	Silent	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr4:47033934C>T	ENST00000295454.3	+	2	376	c.84C>T	c.(82-84)acC>acT	p.T28T	GABRB1_ENST00000509366.1_3'UTR|GABRB1_ENST00000538619.1_5'UTR	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	28					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CCCTTAGCACCAATGAACCCA	0.458000													21	258					0	0	1	0	0
LUZP1	7798	broad.mit.edu	37	1	23419953	23419953	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:23419953C>T	ENST00000302291.4	-	4	1603	c.802G>A	c.(802-804)Gag>Aag	p.E268K	LUZP1_ENST00000374623.3_Missense_Mutation_p.E268K|LUZP1_ENST00000418342.1_Missense_Mutation_p.E268K|LUZP1_ENST00000314174.5_Missense_Mutation_p.E268K			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	268						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		GTTTCATTCTCTACCTGCTTT	0.413000													32	51					0	0	1	0	0
EXOC7	23265	broad.mit.edu	37	17	74097809	74097809	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:74097809T>C	ENST00000607838.1	-	3	356	c.262A>G	c.(262-264)Atc>Gtc	p.I88V	EXOC7_ENST00000405575.4_Missense_Mutation_p.I88V|EXOC7_ENST00000332065.5_Missense_Mutation_p.I88V|EXOC7_ENST00000406660.3_Missense_Mutation_p.I88V|EXOC7_ENST00000335146.7_Missense_Mutation_p.I88V|EXOC7_ENST00000589210.1_Missense_Mutation_p.I88V|EXOC7_ENST00000411744.2_Missense_Mutation_p.I88V|EXOC7_ENST00000467929.2_Missense_Mutation_p.I47V	NM_001145297.2|NM_001145298.2|NM_001145299.2	NP_001138769.1|NP_001138770.1|NP_001138771.1	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	88					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			TAGTAGCTGATGACATGGTCC	0.547000													31	285					0	0	1	0	0
SLC17A3	10786	broad.mit.edu	37	6	25845738	25845738	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr6:25845738C>T	ENST00000397060.4	-	12	1478	c.1369G>A	c.(1369-1371)Gag>Aag	p.E457K	SLC17A3_ENST00000361703.6_Missense_Mutation_p.E379K|SLC17A3_ENST00000360657.3_Missense_Mutation_p.E379K	NM_001098486.1	NP_001091956.1	O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	379					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						CACCCAAACTCAGGGTCCTGG	0.413000													73	44					0	0	1	0	0
DCT	1638	broad.mit.edu	37	13	95121217	95121217	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr13:95121217A>C	ENST00000377028.5	-	2	791	c.378T>G	c.(376-378)atT>atG	p.I126M	DCT_ENST00000446125.1_Missense_Mutation_p.I126M	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	126					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		TGTTCTGCCGAATCACTGGTG	0.507000													94	202					0	0	1	0	0
AMOTL1	154810	broad.mit.edu	37	11	94533301	94533301	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr11:94533301C>A	ENST00000433060.2	+	3	1086	c.945C>A	c.(943-945)ttC>ttA	p.F315L	AMOTL1_ENST00000317837.9_Missense_Mutation_p.F315L|AMOTL1_ENST00000317829.8_Missense_Mutation_p.F265L	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	315						cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				AGTACCCCTTCAAGACCAAGC	0.597000													24	165					2.21704e-12	2.45994e-12	1	1	0
MYT1	4661	broad.mit.edu	37	20	62850332	62850332	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr20:62850332C>T	ENST00000536311.1	+	12	2360	c.1996C>T	c.(1996-1998)Cgc>Tgc	p.R666C	MYT1_ENST00000360149.4_Missense_Mutation_p.R341C|MYT1_ENST00000328439.1_Missense_Mutation_p.R639C			Q01538	MYT1_HUMAN	myelin transcription factor 1	639					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CCTCTCCACGCGCTGCTGGGA	0.572000													14	127					0	0	1	0	0
INSIG2	51141	broad.mit.edu	37	2	118854145	118854145	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:118854145G>C	ENST00000245787.4	+	2	219	c.13G>C	c.(13-15)Gag>Cag	p.E5Q	INSIG2_ENST00000485520.1_Intron	NM_016133.2	NP_057217.2	Q9Y5U4	INSI2_HUMAN	insulin induced gene 2	5					ER-nuclear sterol response pathway	SREBP-SCAP-Insig complex		p.E5K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						GGCAGAAGGAGAGACAGAGTC	0.418000													24	54					0	0	1	0	0
SH2D2A	9047	broad.mit.edu	37	1	156777073	156777073	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:156777073T>G	ENST00000392306.2	-	8	1236	c.1097A>C	c.(1096-1098)cAc>cCc	p.H366P	SH2D2A_ENST00000368198.3_Missense_Mutation_p.H338P|SH2D2A_ENST00000368199.3_Missense_Mutation_p.H356P	NM_001161441.1	NP_001154913.1	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	356	Pro-rich.				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGGGGGCTGGTGGGGCAGGGG	0.597000													7	40					0	0	1	0	0
ABCD3	5825	broad.mit.edu	37	1	94943841	94943841	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:94943841C>G	ENST00000370214.4	+	8	678	c.654C>G	c.(652-654)atC>atG	p.I218M	ABCD3_ENST00000394233.2_Missense_Mutation_p.I218M|ABCD3_ENST00000454898.2_Missense_Mutation_p.I242M|ABCD3_ENST00000315713.5_Missense_Mutation_p.I218M|ABCD3_ENST00000536817.1_Missense_Mutation_p.I145M	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	218	ABC transmembrane type-1.				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		TTTTGTATATCTTTAAGTTAA	0.259000													4	27					0	0	1	0	0
RAB6B	51560	broad.mit.edu	37	3	133614257	133614257	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr3:133614257G>T	ENST00000285208.4	-	1	403	c.54C>A	c.(52-54)ttC>ttA	p.F18L	RAB6B_ENST00000486858.1_5'UTR|RAB6B_ENST00000469959.1_Missense_Mutation_p.F18L|RAB6B_ENST00000543906.1_Missense_Mutation_p.F18L	NM_016577.3	NP_057661.3	Q9NRW1	RAB6B_HUMAN	RAB6B, member RAS oncogene family	18					protein transport|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|Golgi membrane	GTP binding|GTPase activity|protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	11						GCTCCCCCAAGAACACCAACT	0.617000													68	60					7.25294e-45	8.52297e-45	1	1	0
AIDA	64853	broad.mit.edu	37	1	222867175	222867175	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:222867175G>C	ENST00000340020.6	-	4	451	c.245C>G	c.(244-246)tCt>tGt	p.S82C	AIDA_ENST00000474863.1_5'UTR|AIDA_ENST00000541237.1_Missense_Mutation_p.S58C|AIDA_ENST00000355727.2_Missense_Mutation_p.S82C	NM_022831.2	NP_073742.2	Q96BJ3	AIDA_HUMAN	axin interactor, dorsalization associated	82					dorsal/ventral pattern formation|negative regulation of JNK cascade|negative regulation of JUN kinase activity|regulation of protein homodimerization activity					kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10						TTCTTCTTGAGACTGTGTGGA	0.313000													11	26					0	0	1	0	0
S100PBP	64766	broad.mit.edu	37	1	33321593	33321593	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:33321593G>A	ENST00000373475.5	+	7	1435	c.1181G>A	c.(1180-1182)cGa>cAa	p.R394Q	S100PBP_ENST00000373476.1_Missense_Mutation_p.R394Q	NM_022753.3	NP_073590.2	Q96BU1	S1PBP_HUMAN	S100P binding protein	394						nucleus	calcium-dependent protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				AGGAACATGCGAAGCCACCAT	0.512000													25	60					0	0	1	0	0
SGIP1	84251	broad.mit.edu	37	1	67155919	67155919	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:67155919T>C	ENST00000371037.4	+	17	1567	c.1490T>C	c.(1489-1491)aTa>aCa	p.I497T	SGIP1_ENST00000371036.3_Missense_Mutation_p.I297T|SGIP1_ENST00000237247.6_Missense_Mutation_p.I528T|SGIP1_ENST00000371039.1_Missense_Mutation_p.I298T|SGIP1_ENST00000371035.3_Missense_Mutation_p.I287T	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	497	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						CCTCCTCCAATAGCACCCTTA	0.458000													17	235					0	0	1	0	0
LRRC37A3	374819	broad.mit.edu	37	17	62891163	62891163	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:62891163G>C	ENST00000584306.1	-	3	2743	c.2213C>G	c.(2212-2214)tCt>tGt	p.S738C	RP11-927P21.1_ENST00000584959.1_RNA|RP11-927P21.1_ENST00000584131.1_RNA|LRRC37A3_ENST00000339474.5_Intron|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.S738C|LRRC37A3_ENST00000400877.3_Intron|RP11-927P21.1_ENST00000577938.1_RNA	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	738						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						CGTGGTTGGAGATGGTTTAAC	0.512000													55	324					0	0	1	0	0
THADA	63892	broad.mit.edu	37	2	43808919	43808919	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:43808919A>G	ENST00000403856.1	-	9	829	c.682T>C	c.(682-684)Tgt>Cgt	p.C228R	THADA_ENST00000415080.2_5'UTR|THADA_ENST00000404790.1_Missense_Mutation_p.C228R|THADA_ENST00000402360.2_Missense_Mutation_p.C228R|THADA_ENST00000405006.4_Missense_Mutation_p.C228R|THADA_ENST00000405975.2_Missense_Mutation_p.C228R			Q6YHU6	THADA_HUMAN	thyroid adenoma associated	228							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				AGCAATCCACACATATTTTGC	0.333000													8	72					0	0	1	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47440614	47440614	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:47440614A>T	ENST00000404338.3	+	2	3775	c.3775A>T	c.(3775-3777)Aag>Tag	p.K1259*		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1259	Rho-GAP.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										GACTCCAGAGAAGCCGATCCC	0.443000													9	113					0	0	1	0	0
VWCE	220001	broad.mit.edu	37	11	61058340	61058340	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr11:61058340G>C	ENST00000335613.5	-	4	741	c.355C>G	c.(355-357)Cag>Gag	p.Q119E		NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	119						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						GCCACCTCCTGACAGCCTCCA	0.622000													40	70					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32936814	32936814	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr13:32936814C>T	ENST00000544455.1	+	17	8187	c.7960C>T	c.(7960-7962)Ctt>Ttt	p.L2654F	BRCA2_ENST00000380152.3_Missense_Mutation_p.L2654F	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2654					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAGGGTGCTTCTTCAACTAAA	0.373000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			22	25					0	0	1	0	0
TUBB8	347688	broad.mit.edu	37	10	95170	95170	+	Silent	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr10:95170C>T	ENST00000309812.4	-	1	71	c.9G>A	c.(7-9)gaG>gaA	p.E3E	TUBB8_ENST00000447903.2_Intron|TUBB8_ENST00000332708.5_Silent_p.E3E|TUBB8_ENST00000413237.3_Intron	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	3					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		TGAGCACGATCTCCCTCATGG	0.672000													3	8					0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65427138	65427138	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chrX:65427138G>A	ENST00000519389.1	+	14	2734	c.2555G>A	c.(2554-2556)cGg>cAg	p.R852Q	HEPH_ENST00000374727.3_Missense_Mutation_p.R801Q|HEPH_ENST00000441993.2_Missense_Mutation_p.R801Q|HEPH_ENST00000343002.2_Missense_Mutation_p.R798Q|HEPH_ENST00000336279.5_Missense_Mutation_p.R531Q|HEPH_ENST00000419594.1_Missense_Mutation_p.R609Q			Q9BQS7	HEPH_HUMAN	hephaestin	798	Plastocyanin-like 5.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						AGGATCCCTCGGCCAAGGACT	0.478000													14	3					0	0	1	0	0
TCN2	6948	broad.mit.edu	37	22	31013431	31013431	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr22:31013431G>A	ENST00000215838.3	+	7	1549	c.1055G>A	c.(1054-1056)gGg>gAg	p.G352E	TCN2_ENST00000407817.3_Missense_Mutation_p.G325E|TCN2_ENST00000405742.3_Missense_Mutation_p.G348E			P20062	TCO2_HUMAN	transcobalamin II	352					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTTCTGGCCGGGTCCACCGTG	0.572000													30	75					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9400495	9400495	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr20:9400495C>T	ENST00000378501.2	+	22	2072	c.2057C>T	c.(2056-2058)aCa>aTa	p.T686I	PLCB4_ENST00000414679.2_Missense_Mutation_p.T698I|PLCB4_ENST00000278655.4_Missense_Mutation_p.T686I|PLCB4_ENST00000378473.3_Missense_Mutation_p.T698I|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Missense_Mutation_p.T686I|PLCB4_ENST00000334005.3_Missense_Mutation_p.T686I	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	686					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			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						CCTGATCGAACATTTGACCCC	0.433000													23	277					0	0	1	0	0
DAAM1	23002	broad.mit.edu	37	14	59791171	59791171	+	Splice_Site	SNP	A	A	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr14:59791171A>T	ENST00000395125.1	+	7	1011	c.988A>T	c.(988-990)Agg>Tgg	p.R330W	DAAM1_ENST00000360909.3_Splice_Site_p.R330W|DAAM1_ENST00000351081.1_Splice_Site_p.R330W	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	330	GBD/FH3.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		AACATTAGATAGGTAAGTCAG	0.378000													7	27					0	0	1	0	0
ZNF460	10794	broad.mit.edu	37	19	57803086	57803086	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:57803086G>C	ENST00000360338.3	+	3	1499	c.1177G>C	c.(1177-1179)Gag>Cag	p.E393Q	ZNF460_ENST00000537645.1_Missense_Mutation_p.E352Q	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	393					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E393Q(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAAGCCTTTTGAGTGCAAAGA	0.468000													35	133					0	0	1	0	0
EDNRA	1909	broad.mit.edu	37	4	148406949	148406949	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr4:148406949C>A	ENST00000324300.5	+	2	631	c.116C>A	c.(115-117)aCt>aAt	p.T39N	EDNRA_ENST00000358556.4_Missense_Mutation_p.T39N|EDNRA_ENST00000339690.5_Missense_Mutation_p.T39N|EDNRA_ENST00000506066.1_Missense_Mutation_p.T39N|EDNRA_ENST00000511804.1_Intron	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN	endothelin receptor type A	39					activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Bosentan(DB00559)	GATTTCACCACTTTTCGTGGC	0.473000													41	65					1.04594e-18	1.18172e-18	1	1	0
ROBO3	64221	broad.mit.edu	37	11	124747869	124747869	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr11:124747869G>A	ENST00000397801.1	+	21	3215	c.3023G>A	c.(3022-3024)aGg>aAg	p.R1008K	ROBO3_ENST00000525482.1_3'UTR|ROBO3_ENST00000543966.1_5'UTR|ROBO3_ENST00000538940.1_Missense_Mutation_p.R986K	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	1008					axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		CAGACGGCCAGGGGCACGGCC	0.597000													3	17					0	0	1	0	0
MPHOSPH9	10198	broad.mit.edu	37	12	123687540	123687540	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr12:123687540C>A	ENST00000606320.1	-	10	1618	c.1412G>T	c.(1411-1413)aGa>aTa	p.R471I	MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.R319I|MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.R441I|MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.R319I			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	319					M phase of mitotic cell cycle	centriole|Golgi membrane				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		AAAGGATATTCTGTCATCAAG	0.463000													52	177					2.01807e-28	2.33208e-28	1	1	0
MIR1324	100302212	broad.mit.edu	37	3	75679929	75679929	+	RNA	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr3:75679929G>A	ENST00000408868.1	+	0	16					NR_031714.1																						AGAGGTGCATGAAGCCTGGTC	0.562000													4	61					0	0	1	0	0
GRAMD1B	57476	broad.mit.edu	37	11	123483472	123483472	+	Silent	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr11:123483472C>G	ENST00000529750.1	+	14	1821	c.1494C>G	c.(1492-1494)gtC>gtG	p.V498V	GRAMD1B_ENST00000450171.2_Silent_p.V189V|GRAMD1B_ENST00000456860.2_Silent_p.V505V|GRAMD1B_ENST00000322282.7_Silent_p.V498V	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	498						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		TCCTCAGGGTCTCCACAGAGC	0.537000													16	6					0	0	1	0	0
LINC00691	152024	broad.mit.edu	37	3	24138493	24138493	+	RNA	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr3:24138493C>G	ENST00000436123.1	-	0	2230																											GACTCTGCCTCTCCCTCCACA	0.483000													10	13					0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155451184	155451184	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr6:155451184G>T	ENST00000461783.3	+	6	2100	c.827G>T	c.(826-828)aGt>aTt	p.S276I	TIAM2_ENST00000318981.5_Missense_Mutation_p.S276I|TIAM2_ENST00000360366.4_Missense_Mutation_p.S276I|TIAM2_ENST00000529824.2_Missense_Mutation_p.S276I|TIAM2_ENST00000456144.1_Missense_Mutation_p.S276I|TIAM2_ENST00000367174.2_5'UTR			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	276					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CCTGACCCCAGTCTCCATGCC	0.602000													68	31					9.4991e-31	1.10229e-30	1	1	0
TYW1B	441250	broad.mit.edu	37	7	72093896	72093896	+	RNA	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr7:72093896C>T	ENST00000343721.5	-	0	776				TYW1B_ENST00000435769.2_RNA|TYW1B_ENST00000438125.1_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										AGTCAGGATTCCCCAGGGACA	0.537000													3	36					0	0	1	0	0
CASC5	57082	broad.mit.edu	37	15	40913273	40913273	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr15:40913273A>T	ENST00000346991.5	+	11	1279	c.889A>T	c.(889-891)Act>Tct	p.T297S	CASC5_ENST00000399668.2_Missense_Mutation_p.T271S|CASC5_ENST00000527044.1_3'UTR			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	297	Interaction with BUB1 and BUB1B.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		CAGTAATATTACTAGGCTCTT	0.373000													4	26					0	0	1	0	0
JPH4	84502	broad.mit.edu	37	14	24045009	24045009	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr14:24045009G>C	ENST00000397118.3	-	4	1938	c.1036C>G	c.(1036-1038)Ctc>Gtc	p.L346V	JPH4_ENST00000356300.4_Missense_Mutation_p.L346V	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	346					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		AGAGGCAGGAGACTGCGGACG	0.731000													5	4					0	0	1	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69002357	69002357	+	Silent	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:69002357G>T	ENST00000295381.3	+	2	485	c.66G>T	c.(64-66)cgG>cgT	p.R22R	ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000467265.1_Silent_p.R22R|ARHGAP25_ENST00000544262.1_5'UTR|ARHGAP25_ENST00000409220.1_Silent_p.R15R|ARHGAP25_ENST00000409202.3_Silent_p.R22R|ARHGAP25_ENST00000497079.1_Silent_p.R15R|ARHGAP25_ENST00000409030.3_Silent_p.R15R	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	22					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						CTATAGCTCGGTCAAGGAGTG	0.612000													45	599					6.27289e-28	7.23395e-28	1	1	0
DGKG	1608	broad.mit.edu	37	3	186015941	186015941	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr3:186015941G>A	ENST00000265022.3	-	4	761	c.222C>T	c.(220-222)caC>caT	p.H74H	DGKG_ENST00000544847.1_Silent_p.H74H|DGKG_ENST00000382164.4_Silent_p.H74H|DGKG_ENST00000344484.4_Silent_p.H74H	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	74					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	CCAGGAAGAGGTGAGTGCTCA	0.582000													33	211					0	0	1	0	0
KLF5	688	broad.mit.edu	37	13	73636804	73636804	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr13:73636804C>G	ENST00000377687.4	+	2	1603	c.1067C>G	c.(1066-1068)cCt>cGt	p.P356R	KLF5_ENST00000539231.1_Missense_Mutation_p.P265R	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	356					transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		AACATCCAACCTGTCAGATAC	0.453000													18	89					0	0	1	0	0
ITGA3	3675	broad.mit.edu	37	17	48156573	48156573	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:48156573C>A	ENST00000320031.8	+	20	2864	c.2534C>A	c.(2533-2535)cCc>cAc	p.P845H	ITGA3_ENST00000007722.7_Missense_Mutation_p.P845H	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	845					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						GGGTCCTGGCCCTGCCGACCA	0.552000													28	266					6.38683e-12	7.0725e-12	1	1	0
KNTC1	9735	broad.mit.edu	37	12	123072359	123072359	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr12:123072359T>G	ENST00000333479.7	+	39	4009	c.3832T>G	c.(3832-3834)Tca>Gca	p.S1278A	KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1278					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TGTGGTTGGTTCATTTGGTAC	0.423000													3	37					0	0	1	0	0
FUT1	2523	broad.mit.edu	37	19	49254435	49254435	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:49254435C>T	ENST00000310160.3	-	4	1078	c.104G>A	c.(103-105)gGc>gAc	p.G35D		NM_000148.3	NP_000139.1	P19526	FUT1_HUMAN	fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)	35					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		CAGGCCTAGGCCATGTGGAAA	0.602000													23	93					0	0	1	0	0
GP1BA	2811	broad.mit.edu	37	17	4836439	4836439	+	Silent	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:4836439C>T	ENST00000329125.5	+	2	615	c.540C>T	c.(538-540)ccC>ccT	p.P180P		NM_000173.5	NP_000164.5	E7ES66	E7ES66_HUMAN	glycoprotein Ib (platelet), alpha polypeptide	180										central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						CTGAGCTCCCCGCTGGGCTCC	0.562000													17	101					0	0	1	0	0
DCAF4L1	285429	broad.mit.edu	37	4	41984468	41984468	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr4:41984468C>G	ENST00000333141.5	+	1	756	c.659C>G	c.(658-660)tCa>tGa	p.S220*		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	220										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						CACCAGCAGTCATTTGATACC	0.552000													70	262					0	0	1	0	0
TSPAN2	10100	broad.mit.edu	37	1	115600206	115600206	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:115600206G>C	ENST00000369516.2	-	6	499	c.468C>G	c.(466-468)agC>agG	p.S156R	TSPAN2_ENST00000369514.2_Missense_Mutation_p.S156R|TSPAN2_ENST00000369515.2_Missense_Mutation_p.S131R|TSPAN2_ENST00000491992.1_5'UTR	NM_005725.4	NP_005716.2	O60636	TSN2_HUMAN	tetraspanin 2	156						integral to membrane				central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1)	10	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		CCTGTTCGGAGCTTTCTTTTC	0.493000													23	269					0	0	1	0	0
KIAA0907	22889	broad.mit.edu	37	1	155887393	155887393	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:155887393T>G	ENST00000368320.3	-	11	1362	c.1337A>C	c.(1336-1338)cAg>cCg	p.Q446P	KIAA0907_ENST00000368321.3_Missense_Mutation_p.Q446P			Q7Z7F0	K0907_HUMAN	KIAA0907	446	Pro-rich.									breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			gggctggggctggggctgggg	0.567000													21	91					0	0	1	0	0
SETDB1	9869	broad.mit.edu	37	1	150915383	150915383	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:150915383G>A	ENST00000271640.5	+	7	919	c.729G>A	c.(727-729)tcG>tcA	p.S243S	SETDB1_ENST00000368969.4_Silent_p.S243S|SETDB1_ENST00000368963.1_Intron|SETDB1_ENST00000368962.2_Silent_p.S243S|SETDB1_ENST00000459773.1_Intron	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			GTCTACTGTCGGGGAACCATA	0.453000													17	260					0	0	1	0	0
BRIP1	83990	broad.mit.edu	37	17	59857637	59857637	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:59857637G>C	ENST00000259008.2	-	13	2187	c.1920C>G	c.(1918-1920)atC>atG	p.I640M	BRIP1_ENST00000583837.1_5'UTR|BRIP1_ENST00000577598.1_Missense_Mutation_p.I640M	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	640					DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						AATTTTTAATGATATGATTAG	0.333000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					12	84					0	0	1	0	0
CCL7	6354	broad.mit.edu	37	17	32597285	32597285	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:32597285G>A	ENST00000200307.4	+	1	45	c.6G>A	c.(4-6)tgG>tgA	p.W2*	CCL7_ENST00000394630.3_5'UTR|CCL7_ENST00000378569.2_5'UTR|CCL7_ENST00000394627.1_5'UTR			P80098	CCL7_HUMAN	chemokine (C-C motif) ligand 7	0					cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity|heparin binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)		BRCA - Breast invasive adenocarcinoma(366;0.155)		TTCTCATGTGGAAGCCCATGC	0.542000													6	86					0	0	1	0	0
USP1	7398	broad.mit.edu	37	1	62916526	62916526	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:62916526G>C	ENST00000339950.4	+	9	3047	c.2232G>C	c.(2230-2232)gaG>gaC	p.E744D	USP1_ENST00000371146.1_Missense_Mutation_p.E744D	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	744					DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process	nucleoplasm	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		AGGAGTATGAGGGGAAGTGGT	0.373000													12	56					0	0	1	0	0
WDR34	89891	broad.mit.edu	37	9	131397156	131397156	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr9:131397156G>A	ENST00000372715.2	-	7	1086	c.1026C>T	c.(1024-1026)ttC>ttT	p.F342F	WDR34_ENST00000483181.1_5'UTR	NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN	WD repeat domain 34	342						cytoplasm				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						CAAAGCTGGAGAAGGCCACTG	0.647000											OREG0019522	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	14					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103197585	103197585	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr7:103197585G>C	ENST00000424685.2	-	38	5795	c.5636C>G	c.(5635-5637)tCt>tGt	p.S1879C	RELN_ENST00000343529.5_Missense_Mutation_p.S1879C|RELN_ENST00000428762.1_Missense_Mutation_p.S1879C			P78509	RELN_HUMAN	reelin	1879					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TAACAGAATAGAGTGAGATCT	0.378000													6	53					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32937596	32937596	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr13:32937596C>T	ENST00000544455.1	+	18	8484	c.8257C>T	c.(8257-8259)Ctt>Ttt	p.L2753F	BRCA2_ENST00000380152.3_Missense_Mutation_p.L2753F	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2753					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GAAGATTATTCTTCATGGAGC	0.438000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			21	65					0	0	1	0	0
USP21	27005	broad.mit.edu	37	1	161130596	161130596	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:161130596C>T	ENST00000368002.3	+	3	543	c.166C>T	c.(166-168)Cca>Tca	p.P56S	USP21_ENST00000368001.1_Missense_Mutation_p.P56S|USP21_ENST00000289865.8_Missense_Mutation_p.P56S	NM_001014443.2	NP_001014443.1	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	56					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GCCTCCCCGGCCAGGTCTGCC	0.642000													11	242					0	0	1	0	0
CCDC77	84318	broad.mit.edu	37	12	550970	550970	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr12:550970C>A	ENST00000239830.4	+	13	1530	c.1351C>A	c.(1351-1353)Ctt>Att	p.L451I	CCDC77_ENST00000540180.1_Missense_Mutation_p.L419I|CCDC77_ENST00000422000.1_Missense_Mutation_p.L419I|CCDC77_ENST00000412006.2_Missense_Mutation_p.L419I	NM_032358.3	NP_115734.1	Q9BR77	CCD77_HUMAN	coiled-coil domain containing 77	451						centrosome				cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			AAACCAGGATCTTGCCCTTCT	0.433000													13	116					7.03913e-09	7.628e-09	1	1	0
RSPRY1	89970	broad.mit.edu	37	16	57241994	57241994	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr16:57241994G>A	ENST00000537866.1	+	3	1248	c.375G>A	c.(373-375)atG>atA	p.M125I	RSPRY1_ENST00000394420.4_Missense_Mutation_p.M125I			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	125						extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						CCTATTCAATGATAACATTAC	0.294000													52	110					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179417524	179417524	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:179417524G>A	ENST00000589042.1	-	335	90327	c.90103C>T	c.(90103-90105)Cgt>Tgt	p.R30035C	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R21095C|TTN_ENST00000460472.2_Missense_Mutation_p.R20970C|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R21162C|TTN_ENST00000591111.1_Missense_Mutation_p.R28394C|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R27467C|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28394	Ig-like 136.						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)			GAGAGATCACGTATAGGAGCT	0.438000													10	100					0	0	1	0	0
TRIP6	7205	broad.mit.edu	37	7	100469281	100469281	+	Silent	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr7:100469281C>T	ENST00000200457.4	+	7	1476	c.1116C>T	c.(1114-1116)ctC>ctT	p.L372L		NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN	thyroid hormone receptor interactor 6	372	LIM zinc-binding 2.				focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					ACCGCGGCCTCGACGGCATCC	0.622000													35	49					0	0	1	0	0
KCNH6	81033	broad.mit.edu	37	17	61607729	61607729	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:61607729G>A	ENST00000583023.1	+	4	512	c.501G>A	c.(499-501)ggG>ggA	p.G167G	KCNH6_ENST00000456941.2_Silent_p.G167G|KCNH6_ENST00000581784.1_Silent_p.G167G|KCNH6_ENST00000580652.1_Silent_p.G167G|KCNH6_ENST00000314672.5_Silent_p.G167G	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	167					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	GCGGACCAGGGCCAGGCACAG	0.637000													26	163					0	0	1	0	0
GMEB1	10691	broad.mit.edu	37	1	29040947	29040947	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:29040947A>C	ENST00000373816.1	+	10	1492	c.1354A>C	c.(1354-1356)Aca>Cca	p.T452P	GMEB1_ENST00000480454.1_3'UTR|GMEB1_ENST00000361872.4_Missense_Mutation_p.T452P|GMEB1_ENST00000294409.2_Missense_Mutation_p.T462P	NM_024482.2	NP_077808.1	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1	462					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-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)		CTCACCAGACACAGTGACCAT	0.582000													26	83					0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52398863	52398863	+	Silent	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr3:52398863C>G	ENST00000420323.2	+	34	5607	c.5346C>G	c.(5344-5346)ctC>ctG	p.L1782L		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1782					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGATCTGCCTCCGGGCCATCC	0.637000													16	51					0	0	1	0	0
C1QTNF7	114905	broad.mit.edu	37	4	15437374	15437374	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr4:15437374G>C	ENST00000295297.4	+	2	287	c.28G>C	c.(28-30)Gtc>Ctc	p.V10L	C1QTNF7_ENST00000444304.2_Missense_Mutation_p.V3L|C1QTNF7_ENST00000429690.1_Missense_Mutation_p.V3L	NM_001135170.1	NP_001128642.1	Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7	3						collagen				endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						AAAGATGTTTGTCTTGCTCTA	0.448000													4	68					0	0	1	0	0
MDGA2	161357	broad.mit.edu	37	14	47504376	47504376	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr14:47504376C>G	ENST00000426342.1	-	8	1509	c.763G>C	c.(763-765)Gtt>Ctt	p.V255L	MDGA2_ENST00000399232.2_Missense_Mutation_p.V484L|MDGA2_ENST00000357362.3_Missense_Mutation_p.V255L|MDGA2_ENST00000439988.3_Missense_Mutation_p.V553L	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	484	Ig-like 3.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GGCATTGCAACTTCTTTATCC	0.418000													57	108					0	0	1	0	0
PPAP2A	8611	broad.mit.edu	37	5	54737704	54737704	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr5:54737704G>A	ENST00000307259.8	-	4	944	c.524C>T	c.(523-525)tCc>tTc	p.S175F	PPAP2A_ENST00000264775.5_Missense_Mutation_p.S176F	NM_003711.2	NP_003702.2	O14494	LPP1_HUMAN	phosphatidic acid phosphatase type 2A	175					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|androgen receptor signaling pathway|germ cell migration|negative regulation of cell proliferation|phospholipid dephosphorylation|regulation of lipid metabolic process|sphingolipid metabolic process	integral to plasma membrane|membrane fraction	phosphatidate phosphatase activity|sphingosine-1-phosphate phosphatase activity			breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	9		Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544)				GCAGTACATGGAAAACGAAGA	0.403000													6	93					0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12656344	12656344	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:12656344C>T	ENST00000425538.1	+	10	1939	c.1739C>T	c.(1738-1740)cCt>cTt	p.P580L	MYOCD_ENST00000343344.4_Missense_Mutation_p.P580L|MYOCD_ENST00000395988.1_3'UTR|AC005358.1_ENST00000609971.1_Missense_Mutation_p.P484L	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	580					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TCCAGCTGTCCTTTTGCATCC	0.512000													8	122					0	0	1	0	0
CCDC57	284001	broad.mit.edu	37	17	80115782	80115782	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:80115782G>A	ENST00000389641.4	-	14	2119	c.2083C>T	c.(2083-2085)Ctt>Ttt	p.L695F	CCDC57_ENST00000327026.3_5'UTR|CCDC57_ENST00000392343.3_Missense_Mutation_p.L695F|CCDC57_ENST00000392347.1_Missense_Mutation_p.L695F			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	695										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			TCACGGGGAAGCTCACGCTGG	0.642000													3	18					0	0	1	0	0
SPATA4	132851	broad.mit.edu	37	4	177116553	177116553	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr4:177116553G>T	ENST00000280191.2	-	1	269	c.161C>A	c.(160-162)tCc>tAc	p.S54Y		NM_144644.2	NP_653245.2	Q8NEY3	SPAT4_HUMAN	spermatogenesis associated 4	54					apoptosis|spermatogenesis					NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)	22		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)		ACGCAGAACGGAACGAGACAA	0.607000													73	91					2.97807e-44	3.49218e-44	1	1	0
ZNF93	81931	broad.mit.edu	37	19	20045094	20045094	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:20045094G>A	ENST00000343769.5	+	4	1358	c.1330G>A	c.(1330-1332)Gag>Aag	p.E444K	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	444						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						TAGTAAACATGAGATCATTCA	0.388000													23	41					0	0	1	0	0
ZNF274	10782	broad.mit.edu	37	19	58723904	58723904	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:58723904C>A	ENST00000326804.4	+	9	1813	c.1354C>A	c.(1354-1356)Cgt>Agt	p.R452S	ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000345813.3_Missense_Mutation_p.R420S|ZNF274_ENST00000424679.2_Missense_Mutation_p.R347S	NM_001278734.1|NM_133502.1	NP_001265663.1|NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	453					viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.R420C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		ATTGCGCAAACGTGACTCACA	0.423000													11	163					4.68919e-08	4.99403e-08	1	1	0
XRN1	54464	broad.mit.edu	37	3	142116296	142116296	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr3:142116296G>T	ENST00000264951.4	-	20	2331	c.2214C>A	c.(2212-2214)taC>taA	p.Y738*	XRN1_ENST00000392981.2_Nonsense_Mutation_p.Y738*	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	738					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						GTTCTTCCAAGTAAAACCTTA	0.338000													3	34					0.115264	0.115679	1	1	0
UROC1	131669	broad.mit.edu	37	3	126208204	126208204	+	Silent	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr3:126208204C>T	ENST00000290868.2	-	17	1676	c.1623G>A	c.(1621-1623)ctG>ctA	p.L541L	UROC1_ENST00000383579.3_Silent_p.L601L	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	541					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		GATCTCGGCTCAGGACCACCG	0.582000													87	148					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131367332	131367332	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr9:131367332G>C	ENST00000372739.3	+	30	3849	c.3739G>C	c.(3739-3741)Gaa>Caa	p.E1247Q	SPTAN1_ENST00000358161.5_Missense_Mutation_p.E1247Q|SPTAN1_ENST00000372731.4_Missense_Mutation_p.E1247Q	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1247					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						TGAAACCAAAGAATGGATTGA	0.413000													37	25					0	0	1	0	0
IL12RB1	3594	broad.mit.edu	37	19	18174753	18174753	+	Silent	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:18174753C>T	ENST00000600835.2	-	14	1849	c.1551G>A	c.(1549-1551)acG>acA	p.T517T	IL12RB1_ENST00000593993.2_Silent_p.T517T			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1		Fibronectin type-III 5.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						GCACCTGCACCGTGTAGGCTA	0.632000													11	21					0	0	1	0	0
HTR1B	3351	broad.mit.edu	37	6	78172393	78172393	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr6:78172393G>A	ENST00000369947.2	-	1	1097	c.728C>T	c.(727-729)aCg>aTg	p.T243M		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	243					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity	p.T243M(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	CCTGTTGGGCGTCTGTTTCAA	0.612000													69	37					0	0	1	0	0
SYT9	143425	broad.mit.edu	37	11	7335059	7335059	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr11:7335059G>C	ENST00000318881.6	+	3	1168	c.931G>C	c.(931-933)Gac>Cac	p.D311H	SYT9_ENST00000396716.2_Missense_Mutation_p.D279H	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	311	C2 1.					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)		GTACGACTTTGACAGGTTCTC	0.473000													69	141					0	0	1	0	0
EFS	10278	broad.mit.edu	37	14	23829056	23829056	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr14:23829056C>T	ENST00000216733.3	-	4	1238	c.631G>A	c.(631-633)Gag>Aag	p.E211K	EFS_ENST00000429593.2_Intron|EFS_ENST00000351354.3_Missense_Mutation_p.E118K	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	211	Pro-rich.				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		GGCCCCGGCTCCCGGCCTCCT	0.617000													31	137					0	0	1	0	0
CCDC74A	90557	broad.mit.edu	37	2	132290451	132290451	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:132290451G>C	ENST00000295171.6	+	6	1029	c.891G>C	c.(889-891)aaG>aaC	p.K297N	CCDC74A_ENST00000467992.2_3'UTR|CCDC74A_ENST00000409856.3_Missense_Mutation_p.K231N	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	297										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						GGCACCTCAAGTCCCTCCTGG	0.697000													8	97					0	0	1	0	0
NOS2	4843	broad.mit.edu	37	17	26087165	26087165	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:26087165C>T	ENST00000313735.6	-	25	3283	c.3050G>A	c.(3049-3051)cGc>cAc	p.R1017H		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	1017					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	ATCTGGGCGGCGGCACCCAAA	0.652000											OREG0024268	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	104					0	0	1	0	0
ECT2	1894	broad.mit.edu	37	3	172472419	172472419	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr3:172472419C>G	ENST00000417960.1	+	3	576	c.99C>G	c.(97-99)aaC>aaG	p.N33K	ECT2_ENST00000232458.5_Missense_Mutation_p.N33K|ECT2_ENST00000427830.1_Missense_Mutation_p.N33K|ECT2_ENST00000392692.3_Missense_Mutation_p.N33K|ECT2_ENST00000540509.1_Missense_Mutation_p.N33K|ECT2_ENST00000441497.2_Missense_Mutation_p.N33K	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	33					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			CCAAGGAAAACTTACTTATTG	0.323000													17	15					0	0	1	0	0
PMS1	5378	broad.mit.edu	37	2	190718686	190718686	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:190718686C>G	ENST00000441310.2	+	8	1077	c.844C>G	c.(844-846)Ctg>Gtg	p.L282V	PMS1_ENST00000432292.3_Missense_Mutation_p.L106V|PMS1_ENST00000409823.3_Missense_Mutation_p.L243V|PMS1_ENST00000447232.2_Missense_Mutation_p.L282V|PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000418224.3_Missense_Mutation_p.L106V	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	282					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			TCATTACAATCTGAAATGCCT	0.289000			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)					6	57					0	0	1	0	0
FRS2	10818	broad.mit.edu	37	12	69964250	69964250	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr12:69964250C>G	ENST00000299293.2	+	7	716	c.206C>G	c.(205-207)tCg>tGg	p.S69W	FRS2_ENST00000397997.2_Missense_Mutation_p.S69W|FRS2_ENST00000549921.1_Missense_Mutation_p.S69W|FRS2_ENST00000550389.1_Missense_Mutation_p.S69W	NM_001278351.1|NM_006654.3	NP_001265280.1|NP_006645.3	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	69	IRS-type PTB.				activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GGCTATGACTCGAATCTCTTT	0.398000													20	651					0	0	1	0	0
ZNF683	257101	broad.mit.edu	37	1	26691249	26691249	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:26691249G>A	ENST00000436292.1	-	4	908	c.788C>T	c.(787-789)tCt>tTt	p.S263F	ZNF683_ENST00000349618.3_Missense_Mutation_p.S263F|ZNF683_ENST00000403843.1_Missense_Mutation_p.S263F|ZNF683_ENST00000374204.1_Missense_Mutation_p.S263F			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	263					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		AGCTTGGCCAGAGGCTTGGAA	0.642000													58	48					0	0	1	0	0
WDR82	80335	broad.mit.edu	37	3	52294439	52294439	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr3:52294439C>T	ENST00000296490.3	-	5	786	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K		NM_025222.3	NP_079498.2	Q6UXN9	WDR82_HUMAN	WD repeat domain 82	169					histone H3-K4 methylation	chromatin|PTW/PP1 phosphatase complex|Set1C/COMPASS complex	protein binding								BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246)		TTGACCATTTCAGAGTTGACA	0.373000													15	47					0	0	1	0	0
STX11	8676	broad.mit.edu	37	6	144508445	144508445	+	Silent	SNP	C	C	G	rs145774130	byFrequency	TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr6:144508445C>G	ENST00000367568.4	+	2	864	c.681C>G	c.(679-681)ctC>ctG	p.L227L		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	227	t-SNARE coiled-coil homology.				cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		TACACGAGCTCTTCTTGCAGA	0.652000									Familial Hemophagocytic Lymphohistiocytosis				41	25					0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15448382	15448382	+	Silent	SNP	T	T	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:15448382T>A	ENST00000281513.5	-	40	4780	c.4755A>T	c.(4753-4755)cgA>cgT	p.R1585R	NBAS_ENST00000441750.1_Silent_p.R1465R	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1585										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						ATGGGGCCAATCGGGCATAGA	0.463000													7	89					0	0	1	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69334597	69334597	+	Splice_Site	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr4:69334597G>T	ENST00000305363.4	+	4	323	c.259G>T	c.(259-261)Gtg>Ttg	p.V87L		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	87	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						TTACAAACAGGTGAAAAATGC	0.279000													19	80					5.03518e-11	5.55366e-11	1	1	0
RASA3	22821	broad.mit.edu	37	13	114778667	114778667	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr13:114778667G>A	ENST00000334062.7	-	15	1584	c.1463C>T	c.(1462-1464)gCg>gTg	p.A488V	RASA3_ENST00000389544.4_Missense_Mutation_p.A456V	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	488	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity	p.A488E(2)|p.A488V(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			AATGGCGGGCGCAAAGAACCT	0.617000													18	6					0	0	1	0	0
MFHAS1	9258	broad.mit.edu	37	8	8748771	8748771	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr8:8748771C>G	ENST00000276282.6	-	1	2384	c.1798G>C	c.(1798-1800)Gac>Cac	p.D600H		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	600	Roc.									endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		AGGTTCTTGTCCGAAACGCCA	0.642000													7	104					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9021060	9021060	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:9021060C>A	ENST00000397910.4	-	19	37466	c.37263G>T	c.(37261-37263)caG>caT	p.Q12421H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12423	SEA 3.				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						TCACCAGACCCTGCAGGACCC	0.547000													13	183					7.03913e-09	7.628e-09	1	1	0
GRM5	2915	broad.mit.edu	37	11	88386506	88386506	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr11:88386506G>C	ENST00000418177.2	-	4	1344	c.977C>G	c.(976-978)aCa>aGa	p.T326R	GRM5_ENST00000393297.1_Missense_Mutation_p.T326R|GRM5_ENST00000305432.5_Missense_Mutation_p.T326R|GRM5_ENST00000305447.4_Missense_Mutation_p.T326R|GRM5_ENST00000455756.2_Missense_Mutation_p.T326R			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	326					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	GAGCTTGATTGTGATGCCACC	0.453000													11	74					0	0	1	0	0
PITPNM1	9600	broad.mit.edu	37	11	67269467	67269467	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr11:67269467C>T	ENST00000356404.3	-	5	731	c.506G>A	c.(505-507)cGa>cAa	p.R169Q	PITPNM1_ENST00000436757.2_Missense_Mutation_p.R169Q|PITPNM1_ENST00000534749.1_Missense_Mutation_p.R169Q	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	169					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						CAGTGGCCCTCGGCCCGTCTT	0.612000													38	85					0	0	1	0	0
ZNF445	353274	broad.mit.edu	37	3	44490077	44490077	+	Silent	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr3:44490077C>T	ENST00000425708.2	-	7	1427	c.1086G>A	c.(1084-1086)aaG>aaA	p.K362K	ZNF445_ENST00000396077.2_Silent_p.K362K			P59923	ZN445_HUMAN	zinc finger protein 445	362					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		CACATTGATCCTTCTGCCTGC	0.418000													16	80					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100682960	100682960	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr7:100682960A>T	ENST00000306151.4	+	3	8327	c.8263A>T	c.(8263-8265)Agt>Tgt	p.S2755C		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2755	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCCATTAACAAGTATACTTGT	0.493000													22	650					0	0	1	0	0
EHBP1L1	254102	broad.mit.edu	37	11	65349507	65349507	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr11:65349507C>T	ENST00000309295.4	+	9	1629	c.1364C>T	c.(1363-1365)cCt>cTt	p.P455L		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	455										central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						AGGGGGACCCCTGAGGCTCCT	0.642000													19	81					0	0	1	0	0
KCNA2	3737	broad.mit.edu	37	1	111146504	111146504	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:111146504C>T	ENST00000485317.1	-	3	1574	c.901G>A	c.(901-903)Gtc>Atc	p.V301I	KCNA2_ENST00000369770.3_Intron|KCNA2_ENST00000440270.1_Missense_Mutation_p.V301I|KCNA2_ENST00000316361.4_Missense_Mutation_p.V301I			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	301						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		ATCCTAAAGACTCTTACCAAC	0.527000													37	162					0	0	1	0	0
ILDR2	387597	broad.mit.edu	37	1	166927059	166927059	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:166927059G>A	ENST00000271417.3	-	2	381	c.326C>T	c.(325-327)tCg>tTg	p.S109L	ILDR2_ENST00000525740.1_Missense_Mutation_p.S109L|ILDR2_ENST00000528703.1_Missense_Mutation_p.S109L|ILDR2_ENST00000529387.1_Missense_Mutation_p.S109L|ILDR2_ENST00000526687.1_Missense_Mutation_p.S109L|ILDR2_ENST00000469934.2_Missense_Mutation_p.S109L|ILDR2_ENST00000529071.1_Missense_Mutation_p.S109L	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	109	Ig-like V-type.					integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						GGTGACAGTCGAGCCCTGTTT	0.493000													46	174					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33962623	33962623	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr15:33962623T>G	ENST00000389232.4	+	38	5796	c.5726T>G	c.(5725-5727)gTt>gGt	p.V1909G	RYR3_ENST00000415757.3_Missense_Mutation_p.V1909G	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1909	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.V1909G(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTGCTAGGGGTTCCTTTggaa	0.473000													16	24					0	0	1	0	0
ETNPPL	64850	broad.mit.edu	37	4	109663675	109663675	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr4:109663675T>G	ENST00000296486.3	-	13	1619	c.1465A>C	c.(1465-1467)Aca>Cca	p.T489P	ETNPPL_ENST00000510706.1_Missense_Mutation_p.T449P|ETNPPL_ENST00000411864.2_Missense_Mutation_p.T483P|ETNPPL_ENST00000512646.1_Missense_Mutation_p.T431P	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2			ethanolamine-phosphate phospho-lyase																		AGTGAATGTGTATCCGTGCAC	0.438000													16	127					0	0	1	0	0
EFTUD1	79631	broad.mit.edu	37	15	82443993	82443993	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr15:82443993G>A	ENST00000268206.7	-	18	2970	c.2802C>T	c.(2800-2802)tgC>tgT	p.C934C	EFTUD1_ENST00000359445.3_Silent_p.C883C	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	934					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						AGGCCTCAGAGCAGCCATCTT	0.458000													14	145					0	0	1	0	0
KIAA0513	9764	broad.mit.edu	37	16	85114926	85114926	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr16:85114926C>G	ENST00000566428.1	+	9	1539	c.908C>G	c.(907-909)aCt>aGt	p.T303S	KIAA0513_ENST00000538274.1_Missense_Mutation_p.T303S|KIAA0513_ENST00000258180.3_Missense_Mutation_p.T303S			O60268	K0513_HUMAN	KIAA0513	303						cytoplasm				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		TGCAGGCACACTCTGAGGTTC	0.567000													19	22					0	0	1	0	0
MAG	4099	broad.mit.edu	37	19	35793494	35793494	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:35793494G>A	ENST00000361922.4	+	7	1264	c.1114G>A	c.(1114-1116)Gag>Aag	p.E372K	MAG_ENST00000392213.3_Missense_Mutation_p.E372K|MAG_ENST00000537831.2_Missense_Mutation_p.E347K	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	myelin associated glycoprotein	372	Ig-like C2-type 3.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GGTCATCTACGAGAGCGAGCT	0.587000													28	137					0	0	1	0	0
GNL3	26354	broad.mit.edu	37	3	52725636	52725636	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr3:52725636G>A	ENST00000394799.2	+	9	1034	c.824G>A	c.(823-825)gGg>gAg	p.G275E	GNL3_ENST00000418458.1_Missense_Mutation_p.G287E	NM_206825.1	NP_996561.1	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)	287	G.				regulation of cell proliferation	nucleolus	GTP binding|protein binding			breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		GTATCCATGGGGCTTACAAGG	0.323000													5	31					0	0	1	0	0
SLC25A19	60386	broad.mit.edu	37	17	73282503	73282503	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:73282503G>C	ENST00000402418.3	-	2	1079	c.170C>G	c.(169-171)gCa>gGa	p.A57G	SLC25A19_ENST00000442286.2_Missense_Mutation_p.A57G|SLC25A19_ENST00000375261.4_Missense_Mutation_p.A57G|SLC25A19_ENST00000580994.1_Missense_Mutation_p.A57G|SLC25A19_ENST00000416858.2_Missense_Mutation_p.A57G|SLC25A19_ENST00000320362.3_Missense_Mutation_p.A57G			Q9HC21	TPC_HUMAN	solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19	57						integral to membrane|mitochondrial inner membrane	binding|deoxynucleotide transmembrane transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08)		all cancers(21;6.82e-07)|Epithelial(20;6.86e-06)			ATGGTACTTTGCGCTGGGGTC	0.537000													15	199					0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62021175	62021175	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:62021175C>A	ENST00000578147.1	-	22	4024	c.3948G>T	c.(3946-3948)caG>caT	p.Q1316H	SCN4A_ENST00000435607.1_Missense_Mutation_p.Q1316H			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1316					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)	AGTATTTCTTCTGTTCCTCCG	0.552000													8	67					0.0477658	0.0481113	1	1	0
UCP1	7350	broad.mit.edu	37	4	141489011	141489011	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr4:141489011G>A	ENST00000262999.3	-	2	322	c.247C>T	c.(247-249)Cag>Tag	p.Q83*		NM_021833.4	NP_068605.1	P25874	UCP1_HUMAN	uncoupling protein 1 (mitochondrial, proton carrier)	83					brown fat cell differentiation|cellular lipid metabolic process|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|stomach(1)	16	all_hematologic(180;0.162)					ATTTGCCGCTGAAGCCCCGCA	0.562000													28	136					0	0	1	0	0
EDEM2	55741	broad.mit.edu	37	20	33719493	33719493	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr20:33719493T>A	ENST00000540582.1	-	11	1394	c.673A>T	c.(673-675)Aaa>Taa	p.K225*	EDEM2_ENST00000541621.1_Nonsense_Mutation_p.K45*|EDEM2_ENST00000542871.1_5'UTR|EDEM2_ENST00000374491.3_Nonsense_Mutation_p.K229*|EDEM2_ENST00000374492.3_Nonsense_Mutation_p.K266*			Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	266					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			ATGGCTCCTTTCACCAAGTAC	0.527000													40	357					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186094817	186094817	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:186094817G>C	ENST00000271588.4	+	82	12810	c.12581G>C	c.(12580-12582)gGa>gCa	p.G4194A	HMCN1_ENST00000367492.2_Missense_Mutation_p.G4194A	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4194	Ig-like C2-type 41.				response to stimulus|visual perception	basement membrane	calcium ion binding			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						GTAGCTGATGGAATCCCCACA	0.388000													26	70					0	0	1	0	0
ACOX2	8309	broad.mit.edu	37	3	58519231	58519231	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr3:58519231G>T	ENST00000302819.5	-	5	815	c.524C>A	c.(523-525)aCc>aAc	p.T175N	ACOX2_ENST00000459701.2_Missense_Mutation_p.T175N	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	175					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		AAACTCCTGGGTGGCTGCGTC	0.542000											OREG0015638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	144					2.80697e-09	3.05966e-09	1	1	0
KALRN	8997	broad.mit.edu	37	3	124436142	124436142	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr3:124436142G>A	ENST00000291478.5	+	26	3397	c.3234G>A	c.(3232-3234)ctG>ctA	p.L1078L	KALRN_ENST00000428018.2_Silent_p.L1046L|KALRN_ENST00000360013.3_Silent_p.L2775L	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase						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						ATGATGAACTGATGGAGGAAA	0.413000													71	82					0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7723702	7723702	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:7723702G>A	ENST00000303635.7	+	9	1302	c.1095G>A	c.(1093-1095)ggG>ggA	p.G365G	CAMTA1_ENST00000439411.2_Silent_p.G365G	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	365					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TCAGCAGCGGGCTCAACAGCG	0.662000			T	WWTR1	epitheliod hemangioendothelioma								12	126					0	0	1	0	0
FKBP10	60681	broad.mit.edu	37	17	39977232	39977232	+	Silent	SNP	C	C	T	rs143450797	byFrequency	TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:39977232C>T	ENST00000321562.4	+	8	1394	c.1290C>T	c.(1288-1290)ctC>ctT	p.L430L	FKBP10_ENST00000544340.1_Silent_p.L203L	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	430	PPIase FKBP-type 4.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		AGGCGACTCTCGGGGCCAACA	0.701000													4	30					0	0	1	0	0
OAZ3	51686	broad.mit.edu	37	1	151740602	151740602	+	Silent	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:151740602C>T	ENST00000321531.5	+	4	404	c.237C>T	c.(235-237)caC>caT	p.H79H	OAZ3_ENST00000453029.2_Silent_p.H92H|OAZ3_ENST00000577465.1_3'UTR|OAZ3_ENST00000315067.8_Silent_p.H79H|OAZ3_ENST00000400999.1_5'UTR|RP11-98D18.3_ENST00000512280.1_RNA|OAZ3_ENST00000479764.1_Intron			Q9UMX2	OAZ3_HUMAN	ornithine decarboxylase antizyme 3	76					cellular nitrogen compound metabolic process|regulation of cellular amino acid metabolic process|spermatogenesis	cytosol|nucleus	ornithine decarboxylase inhibitor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	9	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)		L-Ornithine(DB00129)	TAGACTTTCACTTCCGCCTTA	0.542000													56	81					0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	12958064	12958064	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr8:12958064G>A	ENST00000276297.4	-	9	2191	c.1782C>T	c.(1780-1782)gtC>gtT	p.V594V	DLC1_ENST00000520226.1_Silent_p.V83V|DLC1_ENST00000358919.2_Silent_p.V157V|DLC1_ENST00000512044.2_Silent_p.V191V	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	594					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TGAGGCTGCGGACGGAAGACA	0.697000													17	118					0	0	1	0	0
EFCAB5	374786	broad.mit.edu	37	17	28417662	28417662	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:28417662T>G	ENST00000394835.3	+	20	4099	c.3907T>G	c.(3907-3909)Tct>Gct	p.S1303A	EFCAB5_ENST00000394832.2_Intron|RP11-1148O4.2_ENST00000582938.1_RNA|EFCAB5_ENST00000320856.5_Missense_Mutation_p.S1179A	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1303							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TGGCGAGTTCTCTGGAGAGAT	0.383000													25	94					0	0	1	0	0
WFDC8	90199	broad.mit.edu	37	20	44181845	44181845	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr20:44181845G>A	ENST00000357199.4	-	5	594	c.516C>T	c.(514-516)gaC>gaT	p.D172D	WFDC8_ENST00000289953.2_Silent_p.D172D	NM_181510.2	NP_852611.2	Q8IUA0	WFDC8_HUMAN	WAP four-disulfide core domain 8	172	WAP 2.					extracellular region	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				GACAATCGATGTCACTGTGAC	0.463000													8	132					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7637562	7637562	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:7637562G>A	ENST00000572933.1	+	6	2150	c.690G>A	c.(688-690)atG>atA	p.M230I	DNAH2_ENST00000570791.1_Missense_Mutation_p.M230I|DNAH2_ENST00000082259.3_Missense_Mutation_p.M230I|DNAH2_ENST00000389173.2_Missense_Mutation_p.M230I			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	230	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCATGAACATGAAGCCTGAGA	0.537000													7	16					0	0	1	0	0
VWA7	80737	broad.mit.edu	37	6	31733741	31733741	+	Silent	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr6:31733741C>G	ENST00000375686.3	-	16	2655	c.2418G>C	c.(2416-2418)gtG>gtC	p.V806V	VWA7_ENST00000375688.4_Silent_p.V806V	NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN	von Willebrand factor A domain containing 7	806						extracellular region											CCCCTGCAGTCACAGTCACCA	0.637000													24	440					0	0	1	0	0
DMRTA1	63951	broad.mit.edu	37	9	22451128	22451128	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr9:22451128C>T	ENST00000325870.2	+	2	958	c.733C>T	c.(733-735)Cag>Tag	p.Q245*		NM_022160.2	NP_071443.2	Q5VZB9	DMRTA_HUMAN	DMRT-like family A1						cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	p.Q245K(1)		breast(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)		CAAATCCCATCAGCTTTACCT	0.398000													15	17					0	0	1	0	0
PER3	8863	broad.mit.edu	37	1	7863866	7863866	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:7863866G>T	ENST00000377532.3	+	9	1318	c.1094G>T	c.(1093-1095)aGc>aTc	p.S365I	PER3_ENST00000377541.1_Missense_Mutation_p.S364I|PER3_ENST00000361923.2_Missense_Mutation_p.S364I			P56645	PER3_HUMAN	period circadian clock 3	364	PAC.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		AATCCCTGGAGCCGGAAGATT	0.403000													36	41					1.36161e-19	1.5415e-19	1	1	0
GGCX	2677	broad.mit.edu	37	2	85778102	85778102	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:85778102C>G	ENST00000233838.4	-	13	1914	c.1834G>C	c.(1834-1836)Gag>Cag	p.E612Q	GGCX_ENST00000430215.3_Missense_Mutation_p.E555Q	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase						blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)	AGGTCTTGCTCCAGTGCAAGC	0.453000													101	120					0	0	1	0	0
LGALS4	3960	broad.mit.edu	37	19	39292958	39292958	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:39292958C>G	ENST00000307751.4	-	8	1134	c.657G>C	c.(655-657)aaG>aaC	p.K219N		NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	219	Galectin 2.				cell adhesion	cytosol|plasma membrane	sugar binding			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CGTTATACCTCTTGCCTGTGG	0.557000													171	121					0	0	1	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84531730	84531730	+	RNA	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr9:84531730G>A	ENST00000527857.1	+	0	1752					NR_026851.1																						CCTGCCCAGAGGTCAGTCCCC	0.517000													8	57					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6986291	6986291	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr18:6986291C>T	ENST00000389658.3	-	37	5317	c.5224G>A	c.(5224-5226)Gaa>Aaa	p.E1742K		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1742	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACCTCCAATTCTTCCAGCGGC	0.423000													31	276					0	0	1	0	0
PODN	127435	broad.mit.edu	37	1	53544320	53544320	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:53544320C>A	ENST00000371500.3	+	10	1566	c.1225C>A	c.(1225-1227)Cgc>Agc	p.R409S	PODN_ENST00000395871.2_Missense_Mutation_p.R286S|PODN_ENST00000312553.5_Missense_Mutation_p.R428S|RP11-334A14.5_ENST00000447867.1_RNA	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN	podocan	380					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						TGGCCTGCCTCGCCGCGTGCG	0.632000													44	148					1.76056e-25	2.01776e-25	1	1	0
IGHA1	3493	broad.mit.edu	37	14	106173676	106173676	+	RNA	SNP	T	T	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr14:106173676T>C	ENST00000390547.2	-	0	890																											CCACGCGCAGTATGCTGGTCA	0.662000													10	180					0	0	1	0	0
BLNK	29760	broad.mit.edu	37	10	97951794	97951794	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr10:97951794G>A	ENST00000224337.5	-	17	1447	c.1306C>T	c.(1306-1308)Ctt>Ttt	p.L436F	BLNK_ENST00000371176.2_Missense_Mutation_p.L413F|BLNK_ENST00000413476.2_Missense_Mutation_p.L384F|BLNK_ENST00000427367.2_Missense_Mutation_p.L401F	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	436	SH2.				B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		CTGTCAATAAGAACCAAAGGA	0.343000													43	41					0	0	1	0	0
PIP4K2C	79837	broad.mit.edu	37	12	57985171	57985171	+	Silent	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr12:57985171C>T	ENST00000354947.5	+	1	115	c.99C>T	c.(97-99)ttC>ttT	p.F33F	PIP4K2C_ENST00000422156.3_Silent_p.F33F|PIP4K2C_ENST00000540759.2_Silent_p.F33F|PIP4K2C_ENST00000550465.1_Silent_p.F33F			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	33						cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					AGAAGCATTTCGTGCAGCAGA	0.662000													101	258					0	0	1	0	0
FOXP1	27086	broad.mit.edu	37	3	71050168	71050168	+	Silent	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr3:71050168G>T	ENST00000318789.4	-	13	1542	c.1017C>A	c.(1015-1017)gcC>gcA	p.A339A	FOXP1_ENST00000491238.1_Silent_p.A341A|FOXP1_ENST00000475937.1_Silent_p.A339A|FOXP1_ENST00000498215.1_Silent_p.A339A|FOXP1_ENST00000468577.1_Silent_p.A339A|FOXP1_ENST00000493089.1_Silent_p.A339A|FOXP1_ENST00000484350.1_Silent_p.A263A	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	339					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)		CTCTACATTGGGCTGTACTTC	0.353000			T	PAX5	ALL								17	74					0.00741294	0.00757616	1	1	0
ZC3HAV1	56829	broad.mit.edu	37	7	138764694	138764694	+	Silent	SNP	T	T	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr7:138764694T>C	ENST00000242351.5	-	4	1309	c.993A>G	c.(991-993)ttA>ttG	p.L331L	ZC3HAV1_ENST00000471652.1_Silent_p.L331L|ZC3HAV1_ENST00000464606.1_Silent_p.L331L	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	331					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						TGCCGTTCTCTAAAAACCTCT	0.552000													63	70					0	0	1	0	0
SLC6A9	6536	broad.mit.edu	37	1	44482736	44482736	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:44482736G>T	ENST00000360584.2	-	1	261	c.70C>A	c.(70-72)Ccc>Acc	p.P24T	SLC6A9_ENST00000475075.2_Intron|SLC6A9_ENST00000372310.3_Intron|SLC6A9_ENST00000492434.2_Intron|SLC6A9_ENST00000372306.3_Intron|SLC6A9_ENST00000537678.1_Intron|SLC6A9_ENST00000357730.2_Missense_Mutation_p.P24T	NM_201649.3	NP_964012.2	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	24						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	GGGGAAGAGGGGGCCACAGGT	0.677000													14	59					7.07596e-05	7.3395e-05	1	1	0
GRIN2B	2904	broad.mit.edu	37	12	13717440	13717440	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr12:13717440A>C	ENST00000609686.1	-	13	2941	c.2732T>G	c.(2731-2733)cTg>cGg	p.L911R		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B						response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CACACCAGACAGGTTAGCCAT	0.582000													65	270					0	0	1	0	0
ANKRD12	23253	broad.mit.edu	37	18	9255911	9255911	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr18:9255911T>A	ENST00000262126.4	+	9	2886	c.2646T>A	c.(2644-2646)caT>caA	p.H882Q	ANKRD12_ENST00000383440.2_Missense_Mutation_p.H859Q|ANKRD12_ENST00000400020.3_Missense_Mutation_p.H859Q	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12							nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						AAAAATGCCATAAAGAAGGTG	0.328000													5	51					0	0	1	0	0
CSNK2A1	1457	broad.mit.edu	37	20	469337	469337	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr20:469337T>C	ENST00000217244.3	-	11	1184	c.809A>G	c.(808-810)aAt>aGt	p.N270S	CSNK2A1_ENST00000349736.5_Missense_Mutation_p.N270S|CSNK2A1_ENST00000400217.2_Missense_Mutation_p.N134S|CSNK2A1_ENST00000400227.3_Missense_Mutation_p.N270S	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	270	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			CAAGATATCATTGAAACGTGG	0.358000													47	33					0	0	1	0	0
EEF2K	29904	broad.mit.edu	37	16	22237249	22237249	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr16:22237249G>A	ENST00000263026.5	+	2	673	c.199G>A	c.(199-201)Gag>Aag	p.E67K		NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	67					insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		AACAAAAAGTGAGCGGTATAG	0.507000													28	66					0	0	1	0	0
BCKDHA	593	broad.mit.edu	37	19	41930481	41930481	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:41930481G>A	ENST00000269980.2	+	9	1674	c.1306G>A	c.(1306-1308)Gag>Aag	p.E436K	BCKDHA_ENST00000457836.2_Missense_Mutation_p.E439K|BCKDHA_ENST00000595085.1_Missense_Mutation_p.E470K|CTC-435M10.3_ENST00000540732.1_Missense_Mutation_p.E470K	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide	436					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						GACCTACGGGGAGCACTACCC	0.617000													38	149					0	0	1	0	0
CCDC97	90324	broad.mit.edu	37	19	41822706	41822706	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:41822706G>A	ENST00000269967.3	+	2	586	c.464G>A	c.(463-465)cGt>cAt	p.R155H		NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	155										biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						ACCCGCCTGCGTAACCGGCGC	0.677000													44	61					0	0	1	0	0
TREM2	54209	broad.mit.edu	37	6	41126740	41126740	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr6:41126740A>T	ENST00000373113.3	-	4	640	c.547T>A	c.(547-549)Ttt>Att	p.F183I	TREM2_ENST00000338469.3_Intron|TREM2_ENST00000373122.4_Missense_Mutation_p.L196H	NM_018965.2	NP_061838.1	Q9NZC2	TREM2_HUMAN	triggering receptor expressed on myeloid cells 2	183					axon guidance|humoral immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	11	Ovarian(28;0.0418)|Colorectal(47;0.196)					TTGATGAGAAAGATGCAGGCC	0.567000													11	104					0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26881714	26881714	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr5:26881714G>C	ENST00000231021.4	-	12	2073	c.1901C>G	c.(1900-1902)gCt>gGt	p.A634G		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	634					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CTTCAATGCAGCAAACAACAC	0.388000													6	113					0	0	1	0	0
MTUS1	57509	broad.mit.edu	37	8	17611869	17611869	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr8:17611869G>C	ENST00000381869.3	-	2	1921	c.1448C>G	c.(1447-1449)aCa>aGa	p.T483R	MTUS1_ENST00000381862.3_Missense_Mutation_p.T483R|MTUS1_ENST00000519263.1_Missense_Mutation_p.T483R|MTUS1_ENST00000262102.6_Missense_Mutation_p.T483R	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	483						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		CGTTTTGATTGTTGATTTTCC	0.378000													75	143					0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8617577	8617577	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:8617577C>G	ENST00000337907.3	-	6	1162	c.528G>C	c.(526-528)aaG>aaC	p.K176N	RERE_ENST00000400908.2_Missense_Mutation_p.K176N|RERE_ENST00000400907.2_Missense_Mutation_p.K176N	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	176	BAH.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GATGGTCCCTCTTACTCTGAA	0.438000													22	30					0	0	1	0	0
PRDX1	5052	broad.mit.edu	37	1	45981460	45981460	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:45981460G>C	ENST00000262746.1	-	3	465	c.126C>G	c.(124-126)ttC>ttG	p.F42L	PRDX1_ENST00000319248.8_Missense_Mutation_p.F42L|PRDX1_ENST00000483583.1_5'UTR|PRDX1_ENST00000372079.1_Intron	NM_002574.3|NM_181696.2	NP_002565.1|NP_859047.1	Q06830	PRDX1_HUMAN	peroxiredoxin 1	42	Thioredoxin.				cell proliferation|cell redox homeostasis|hydrogen peroxide catabolic process|skeletal system development	melanosome|mitochondrion|nucleus	protein binding|thioredoxin peroxidase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	12	Acute lymphoblastic leukemia(166;0.155)					GAGGGTAAAAGAAGAACACAA	0.408000													67	57					0	0	1	0	0
FAU	2197	broad.mit.edu	37	11	64889086	64889086	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr11:64889086G>A	ENST00000529259.1	-	2	207	c.106C>T	c.(106-108)Ccg>Tcg	p.P36S	FAU_ENST00000279259.3_Missense_Mutation_p.P36S|FAU_ENST00000434372.2_Missense_Mutation_p.P36S|FAU_ENST00000527548.1_Missense_Mutation_p.P36S|FAU_ENST00000529639.1_Missense_Mutation_p.P36S|FAU_ENST00000525297.1_Intron|FAU_ENST00000531743.1_Missense_Mutation_p.P36S			P35544	UBIM_HUMAN	Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed	36										NS(3)|kidney(1)|large_intestine(2)	6						TGATCTTCCGGGGCAATGCCC	0.612000													8	116					0	0	1	0	0
NPAS4	266743	broad.mit.edu	37	11	66189921	66189921	+	Splice_Site	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr11:66189921G>A	ENST00000311034.2	+	3	503		c.e3-1			NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4						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						CCTCCCTCCAGGTGGACCTGG	0.527000													63	206					0	0	1	0	0
C20orf194	25943	broad.mit.edu	37	20	3305600	3305600	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr20:3305600C>A	ENST00000252032.9	-	14	1271	c.1204G>T	c.(1204-1206)Gag>Tag	p.E402*	C20orf194_ENST00000453730.2_Nonsense_Mutation_p.E140*	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	402										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						AGAGTTTGCTCTGCTACCTCC	0.413000													36	114					3.03874e-20	3.44721e-20	1	1	0
BTAF1	9044	broad.mit.edu	37	10	93726464	93726464	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr10:93726464C>T	ENST00000265990.6	+	14	1908	c.1600C>T	c.(1600-1602)Cga>Tga	p.R534*	BTAF1_ENST00000471217.1_3'UTR	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	534					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				ATCATCAGTTCGAAGAGCAGC	0.338000													30	58					0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25276099	25276099	+	Silent	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr13:25276099C>A	ENST00000218548.6	+	14	2259	c.1926C>A	c.(1924-1926)ccC>ccA	p.P642P	ATP12A_ENST00000381946.3_Silent_p.P636P	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	636					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)	GTGATCATCCCATCACAGCCA	0.478000													13	154					7.93312e-07	8.36884e-07	1	1	0
SPG11	80208	broad.mit.edu	37	15	44951440	44951440	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr15:44951440G>A	ENST00000261866.7	-	3	520	c.504C>T	c.(502-504)atC>atT	p.I168I	SPG11_ENST00000558319.1_Silent_p.I168I|SPG11_ENST00000559193.1_Silent_p.I168I|SPG11_ENST00000427534.2_Silent_p.I168I|SPG11_ENST00000535302.2_Silent_p.I168I	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	168					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CACATTTGTTGATGAACAGTA	0.358000													16	53					0	0	1	0	0
FBXO46	23403	broad.mit.edu	37	19	46216533	46216533	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:46216533G>C	ENST00000317683.3	-	2	354	c.221C>G	c.(220-222)tCa>tGa	p.S74*		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	74							protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		AGCTGCTGCTGAGAGGAGCGG	0.642000													13	114					0	0	1	0	0
LRRC41	10489	broad.mit.edu	37	1	46744710	46744710	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:46744710G>T	ENST00000343304.6	-	10	2551	c.2266C>A	c.(2266-2268)Ctg>Atg	p.L756M	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	756										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CAGCGCTCCAGCCGCTTGGCG	0.582000													11	64					1.5842e-08	1.70019e-08	1	1	0
FLG	2312	broad.mit.edu	37	1	152279926	152279926	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:152279926T>G	ENST00000368799.1	-	3	7471	c.7436A>C	c.(7435-7437)gAg>gCg	p.E2479A	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2479	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)			TACCAATTGCTCGTAGTGGGA	0.572000									Ichthyosis				99	1233					0	0	1	0	0
SLC27A2	11001	broad.mit.edu	37	15	50526106	50526106	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr15:50526106G>C	ENST00000267842.5	+	9	1829	c.1597G>C	c.(1597-1599)Gaa>Caa	p.E533Q	SLC27A2_ENST00000380902.4_Missense_Mutation_p.E480Q|SLC27A2_ENST00000544960.1_Missense_Mutation_p.E298Q	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	533					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		CAAAATGAAAGAAAACCATGA	0.373000													7	40					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186114897	186114897	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:186114897G>A	ENST00000271588.4	+	93	14679	c.14450G>A	c.(14449-14451)tGg>tAg	p.W4817*	HMCN1_ENST00000367492.2_Nonsense_Mutation_p.W4817*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4817	TSP type-1 6.				response to stimulus|visual perception	basement membrane	calcium ion binding			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						GATGGAAGTTGGGGAAGCTGG	0.498000													60	75					0	0	1	0	0
GPR45	11250	broad.mit.edu	37	2	105859329	105859329	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:105859329G>A	ENST00000258456.1	+	1	1130	c.1014G>A	c.(1012-1014)ttG>ttA	p.L338L		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	338						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						GCATAGAGTTGCTGCCCCAGA	0.547000													21	195					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131356499	131356499	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr9:131356499G>A	ENST00000372739.3	+	24	3371	c.3261G>A	c.(3259-3261)ttG>ttA	p.L1087L	SPTAN1_ENST00000358161.5_Silent_p.L1087L|SPTAN1_ENST00000475367.1_3'UTR|SPTAN1_ENST00000372731.4_Silent_p.L1087L	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1087					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						AAGGCATGTTGGAGAAGAGTT	0.468000													43	36					0	0	1	0	0
ASAP3	55616	broad.mit.edu	37	1	23763091	23763091	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:23763091G>A	ENST00000336689.3	-	16	1577	c.1533C>T	c.(1531-1533)ccC>ccT	p.P511P	ASAP3_ENST00000437606.2_Silent_p.P502P|ASAP3_ENST00000495646.1_Silent_p.P15P	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	511	Arf-GAP.				regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						CGCCGTGTGAGGGTAGCTGGG	0.587000													56	70					0	0	1	0	0
IGHMBP2	3508	broad.mit.edu	37	11	68703726	68703726	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr11:68703726A>G	ENST00000255078.3	+	13	1889	c.1778A>G	c.(1777-1779)gAg>gGg	p.E593G	IGHMBP2_ENST00000541229.1_3'UTR	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	593					cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TTTCTTGCTGAGGACCGGAGG	0.532000													33	410					0	0	1	0	0
PPP1R11	6992	broad.mit.edu	37	6	30035194	30035194	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr6:30035194G>T	ENST00000376772.3	+	1	330	c.7G>T	c.(7-9)Gag>Tag	p.E3*	PPP1R11_ENST00000376769.2_5'UTR|PPP1R11_ENST00000376773.1_Intron	NM_021959.2	NP_068778.1	O60927	PP1RB_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 11	3						soluble fraction	protein binding|protein phosphatase inhibitor activity			lung(2)|ovary(1)|prostate(1)|skin(2)	6						AGCCATGGCCGAGGCAGGGGC	0.607000													31	171					1.45844e-13	1.62795e-13	1	1	0
NEB	4703	broad.mit.edu	37	2	152492771	152492771	+	Silent	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:152492771C>T	ENST00000397345.3	-	64	9274	c.9072G>A	c.(9070-9072)gcG>gcA	p.A3024A	NEB_ENST00000427231.2_Silent_p.A3024A|NEB_ENST00000409198.1_Intron|NEB_ENST00000172853.10_Intron|NEB_ENST00000604864.1_Silent_p.A3024A|NEB_ENST00000603639.1_Silent_p.A3024A	NM_001164508.1	NP_001157980	P20929	NEBU_HUMAN	nebulin	3024					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)		AGGCCTTGGCCGCCACGATGG	0.433000													4	55					0	0	1	0	0
PNLIPRP1	5407	broad.mit.edu	37	10	118357370	118357370	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr10:118357370G>T	ENST00000528052.1	+	7	676	c.605G>T	c.(604-606)aGt>aTt	p.S202I	PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.S202I|PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.S202I			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	202					lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		AGTTTCGAGAGTACTCCTGAA	0.483000													20	86					4.96729e-08	5.28012e-08	1	1	0
SRFBP1	153443	broad.mit.edu	37	5	121330336	121330336	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr5:121330336G>A	ENST00000339397.4	+	4	313	c.241G>A	c.(241-243)Gat>Aat	p.D81N		NM_152546.2	NP_689759.2	Q8NEF9	SRFB1_HUMAN	serum response factor binding protein 1	81					regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		TCTTGGTGATGATATCAACTT	0.254000													14	12					0	0	1	0	0
PIAS4	51588	broad.mit.edu	37	19	4037409	4037409	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:4037409G>A	ENST00000262971.2	+	10	1295	c.1180G>A	c.(1180-1182)Gac>Aac	p.D394N		NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	394					positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAGGACGCCGACGAGATCGA	0.701000													14	32					0	0	1	0	0
IQCG	84223	broad.mit.edu	37	3	197640760	197640760	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr3:197640760C>T	ENST00000265239.6	-	8	1304	c.880G>A	c.(880-882)Gag>Aag	p.E294K	IQCG_ENST00000453254.1_Missense_Mutation_p.E294K|IQCG_ENST00000455191.1_Missense_Mutation_p.E294K	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	294										autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		ACCTCAATCTCTTCCACCAAG	0.473000													12	370					0	0	1	0	0
HSDL2	84263	broad.mit.edu	37	9	115216316	115216316	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr9:115216316G>C	ENST00000398805.3	+	9	1116	c.889G>C	c.(889-891)Gag>Cag	p.E297Q	HSDL2_ENST00000539114.1_Missense_Mutation_p.E92Q|HSDL2_ENST00000262542.7_Missense_Mutation_p.E177Q|HSDL2_ENST00000488101.1_3'UTR|HSDL2_ENST00000398803.1_Missense_Mutation_p.E224Q	NM_032303.4	NP_115679.2	Q6YN16	HSDL2_HUMAN	hydroxysteroid dehydrogenase like 2	297						peroxisome	oxidoreductase activity|sterol binding			NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	13						ATTCAAAGAAGAGAAACTGCA	0.403000													9	49					0	0	1	0	0
AP3D1	8943	broad.mit.edu	37	19	2102196	2102196	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:2102196C>T	ENST00000355272.6	-	32	3830	c.3624G>A	c.(3622-3624)atG>atA	p.M1208I	AP3D1_ENST00000345016.5_Missense_Mutation_p.M1146I|AP3D1_ENST00000356926.4_Missense_Mutation_p.M1105I|AP3D1_ENST00000350812.6_Missense_Mutation_p.M977I	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	1146					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		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)		GCGTCGCCTTCATCTCTTCTA	0.572000													146	158					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16203049	16203049	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:16203049C>G	ENST00000375759.3	+	3	961	c.757C>G	c.(757-759)Cag>Gag	p.Q253E	SPEN_ENST00000471538.1_3'UTR	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	253	Arg-rich.|Ser-rich.				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)		GTCTAGAAATCAGTCTCCTCA	0.537000													33	90					0	0	1	0	0
TAS2R39	259285	broad.mit.edu	37	7	142880649	142880649	+	Silent	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr7:142880649C>A	ENST00000446620.1	+	1	138	c.138C>A	c.(136-138)ctC>ctA	p.L46L		NM_176881.2	NP_795362.2	P59534	T2R39_HUMAN	taste receptor, type 2, member 39	46					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					CTGAATACCTCATTGGTATCA	0.413000													7	53					0.00307968	0.00315908	1	1	0
GAL3ST4	79690	broad.mit.edu	37	7	99758066	99758066	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr7:99758066C>T	ENST00000360039.4	-	4	1338	c.946G>A	c.(946-948)Gat>Aat	p.D316N	GAL3ST4_ENST00000423751.1_Silent_p.Q214Q|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.D254N|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.D316N|GAL3ST4_ENST00000411994.1_Silent_p.Q214Q	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	316					cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CACAGGGCATCTGCCAGCAGA	0.557000													47	147					0	0	1	0	0
AP2B1	163	broad.mit.edu	37	17	33977553	33977553	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:33977553C>A	ENST00000262325.7	+	13	2094	c.1541C>A	c.(1540-1542)tCt>tAt	p.S514Y	AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000312678.8_Missense_Mutation_p.S514Y|AP2B1_ENST00000537622.2_Missense_Mutation_p.S514Y|AP2B1_ENST00000589344.1_Missense_Mutation_p.S514Y|AP2B1_ENST00000592545.1_Missense_Mutation_p.S476Y|AP2B1_ENST00000538556.1_Missense_Mutation_p.S457Y	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	514					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		CTTTAGGATTCTGATAATCCT	0.438000													52	82					2.14674e-31	2.49631e-31	1	1	0
KIF6	221458	broad.mit.edu	37	6	39545887	39545887	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr6:39545887C>A	ENST00000287152.7	-	10	1220	c.1126G>T	c.(1126-1128)Gcc>Tcc	p.A376S	KIF6_ENST00000373213.4_Missense_Mutation_p.A215S|KIF6_ENST00000538893.1_Missense_Mutation_p.A376S|KIF6_ENST00000373216.3_Missense_Mutation_p.A376S|KIF6_ENST00000373215.3_Missense_Mutation_p.A376S	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	376					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GTGACCATGGCCAGTTCATCC	0.428000													19	201					2.4624e-09	2.68932e-09	1	1	0
OGDH	4967	broad.mit.edu	37	7	44737336	44737336	+	Silent	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr7:44737336G>C	ENST00000222673.5	+	17	2355	c.2313G>C	c.(2311-2313)cgG>cgC	p.R771R	OGDH_ENST00000444676.1_Silent_p.R786R|OGDH_ENST00000439616.2_Silent_p.R621R|OGDH_ENST00000449767.1_Silent_p.R767R|OGDH_ENST00000543843.1_Silent_p.R722R|OGDH_ENST00000447398.1_Silent_p.R782R	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	771					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	AGTGGGTGCGGCAGAATGGCA	0.602000													7	148					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85672647	85672647	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr4:85672647G>C	ENST00000322366.6	-	36	6369	c.5962C>G	c.(5962-5964)Ctt>Gtt	p.L1988V	WDFY3_ENST00000295888.4_Missense_Mutation_p.L1988V			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1988						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TCCAACAAAAGATCAATTAGT	0.358000													14	72					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166231228	166231228	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:166231228T>A	ENST00000375437.2	+	22	4296	c.4006T>A	c.(4006-4008)Tct>Act	p.S1336T	SCN2A_ENST00000357398.3_Missense_Mutation_p.S1336T|SCN2A_ENST00000375427.2_Missense_Mutation_p.S1336T|SCN2A_ENST00000283256.6_Missense_Mutation_p.S1336T	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1336					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	AGCCATTCCATCTATCATGAA	0.333000													7	111					0	0	1	0	0
PDZD4	57595	broad.mit.edu	37	X	153072223	153072223	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chrX:153072223C>G	ENST00000164640.4	-	4	651	c.460G>C	c.(460-462)Gag>Cag	p.E154Q	PDZD4_ENST00000544474.1_Missense_Mutation_p.E45Q|PDZD4_ENST00000393758.2_Missense_Mutation_p.E79Q|PDZD4_ENST00000475140.1_5'UTR	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	154	PDZ.					cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCAGGTCCTCCTCGTCGTCC	0.627000													67	16					0	0	1	0	0
CARTPT	9607	broad.mit.edu	37	5	71015207	71015207	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr5:71015207G>A	ENST00000296777.4	+	1	218	c.87G>A	c.(85-87)gaG>gaA	p.E29E		NM_004291.3	NP_004282.1	Q16568	CART_HUMAN	CART prepropeptide	29					activation of MAPKK activity|adult feeding behavior|cellular glucose homeostasis|cellular response to starvation|circadian regulation of gene expression|negative regulation of appetite|negative regulation of bone resorption|negative regulation of osteoclast differentiation|neuropeptide signaling pathway|positive regulation of blood pressure|positive regulation of epinephrine secretion|positive regulation of transmission of nerve impulse|synaptic transmission	extracellular space				large_intestine(1)|lung(2)|ovary(1)	4		Lung NSC(167;0.00153)|Ovarian(174;0.0175)|Prostate(74;0.11)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;8.4e-56)	Amphetamine(DB00182)	GTGCCCAGGAGGACGCCGAGC	0.662000													7	127					0	0	1	0	0
PMS1	5378	broad.mit.edu	37	2	190718983	190718983	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:190718983C>T	ENST00000441310.2	+	9	1218	c.985C>T	c.(985-987)Ctt>Ttt	p.L329F	PMS1_ENST00000432292.3_Missense_Mutation_p.L153F|PMS1_ENST00000409823.3_Missense_Mutation_p.L290F|PMS1_ENST00000447232.2_Missense_Mutation_p.L329F|PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000418224.3_Missense_Mutation_p.L153F	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	329					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			TTTAATTGCTCTTGAAAATCT	0.259000			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)					9	47					0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235884050	235884050	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:235884050G>A	ENST00000389794.3	-	40	9645	c.9471C>T	c.(9469-9471)ttC>ttT	p.F3157F	LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Silent_p.F3157F			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3157	BEACH.				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGAGATCATTGAAGGATCGGC	0.363000													38	112					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32937530	32937530	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr13:32937530C>T	ENST00000544455.1	+	18	8418	c.8191C>T	c.(8191-8193)Cag>Tag	p.Q2731*	BRCA2_ENST00000380152.3_Nonsense_Mutation_p.Q2731*	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2731					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TGTTAAGGCCCAGTTAGATCC	0.433000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			52	32					0	0	1	0	0
SOX5	6660	broad.mit.edu	37	12	23999053	23999053	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr12:23999053T>A	ENST00000546136.1	-	2	308	c.306A>T	c.(304-306)gaA>gaT	p.E102D	SOX5_ENST00000309359.1_Missense_Mutation_p.E102D|SOX5_ENST00000545921.1_Missense_Mutation_p.E105D|SOX5_ENST00000381381.2_Missense_Mutation_p.E102D|SOX5_ENST00000541847.1_Missense_Mutation_p.E105D|SOX5_ENST00000441133.2_Missense_Mutation_p.E80D|SOX5_ENST00000451604.2_Missense_Mutation_p.E115D|SOX5_ENST00000541536.1_Missense_Mutation_p.E102D|SOX5_ENST00000537393.1_Missense_Mutation_p.E80D			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	115					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						GTCGCCCACCTTCTTCTGCCT	0.478000													13	155					0	0	1	0	0
OR2D3	120775	broad.mit.edu	37	11	6943088	6943088	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr11:6943088C>A	ENST00000317834.3	+	1	884	c.856C>A	c.(856-858)Ctg>Atg	p.L286M		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TACAAAAGAACTGGATAAAAT	0.423000													12	56					0.00244969	0.00252214	1	1	0
SPTAN1	6709	broad.mit.edu	37	9	131378100	131378100	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr9:131378100G>A	ENST00000372739.3	+	41	5448	c.5338G>A	c.(5338-5340)Gac>Aac	p.D1780N	SPTAN1_ENST00000358161.5_Missense_Mutation_p.D1780N|SPTAN1_ENST00000372731.4_Missense_Mutation_p.D1775N	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1775					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						GGACATGGATGACGAGGAGTC	0.567000													44	25					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21133386	21133386	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr16:21133386G>A	ENST00000261383.3	-	10	1463	c.1464C>T	c.(1462-1464)atC>atT	p.I488I	CTC-508F8.1_ENST00000575612.1_RNA|DNAH3_ENST00000415178.1_Silent_p.I488I	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	488	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GTTTGATCATGATTAGCTGAG	0.393000													31	70					0	0	1	0	0
THPO	7066	broad.mit.edu	37	3	184090596	184090596	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr3:184090596C>A	ENST00000204615.7	-	6	981	c.767G>T	c.(766-768)gGa>gTa	p.G256V	EIF2B5_ENST00000444495.1_Intron|THPO_ENST00000445696.2_Missense_Mutation_p.G252V|THPO_ENST00000421442.2_Missense_Mutation_p.W217C	NM_000460.2|NM_001177597.1|NM_001177598.1	NP_000451.1|NP_001171068.1|NP_001171069.1	P40225	TPO_HUMAN	thrombopoietin	256					cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCCACGAGTTCCATTCAAGAG	0.562000													91	286					2.60632e-51	3.06917e-51	1	1	0
FGFR3	2261	broad.mit.edu	37	4	1806099	1806099	+	Missense_Mutation	SNP	A	A	G	rs121913485		TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr4:1806099A>G	ENST00000340107.4	+	9	1380	c.1124A>G	c.(1123-1125)tAt>tGt	p.Y375C	FGFR3_ENST00000440486.2_Missense_Mutation_p.Y373C|FGFR3_ENST00000260795.2_Missense_Mutation_p.Y373C|FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000352904.1_Intron|FGFR3_ENST00000481110.2_Missense_Mutation_p.Y373C	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	373			G -> C (in ACH).		bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.Y373C(395)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	GGCAGTGTGTATGCAGGCATC	0.682000	Y373C(KMS11_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				159	67					0	0	1	0	0
RNF43	54894	broad.mit.edu	37	17	56435956	56435956	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:56435956G>A	ENST00000584437.1	-	8	3136	c.1181C>T	c.(1180-1182)gCa>gTa	p.A394V	RNF43_ENST00000500597.2_Missense_Mutation_p.A353V|RNF43_ENST00000577625.1_Missense_Mutation_p.A267V|RNF43_ENST00000583753.1_Missense_Mutation_p.A353V|RNF43_ENST00000577716.1_Missense_Mutation_p.A394V|RNF43_ENST00000407977.2_Missense_Mutation_p.A394V|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Missense_Mutation_p.A267V			Q68DV7	RNF43_HUMAN	ring finger protein 43	394						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCGGGGATGTGCAGCTCTGGG	0.682000													6	26					0	0	1	0	0
MSH6	2956	broad.mit.edu	37	2	48027760	48027760	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:48027760G>T	ENST00000234420.5	+	4	2790	c.2638G>T	c.(2638-2640)Gat>Tat	p.D880Y	FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000538136.1_Missense_Mutation_p.D578Y|MSH6_ENST00000540021.1_Missense_Mutation_p.D750Y	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6						determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGAAGTTGCTGATGGTTTTAA	0.363000			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				23	120					1.96895e-08	2.105e-08	1	1	0
SIDT1	54847	broad.mit.edu	37	3	113303564	113303564	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr3:113303564G>C	ENST00000264852.4	+	8	1581	c.855G>C	c.(853-855)tgG>tgC	p.W285C	SIDT1_ENST00000393830.3_Missense_Mutation_p.W285C	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	285						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						ACCAGACCTGGAATCTACAGC	0.358000													10	96					0	0	1	0	0
FANCD2OS	115795	broad.mit.edu	37	3	10146093	10146093	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr3:10146093G>T	ENST00000450660.2	-	2	582	c.366C>A	c.(364-366)gaC>gaA	p.D122E	FANCD2OS_ENST00000524279.1_Missense_Mutation_p.D122E	NM_001164839.1	NP_001158311.1			FANCD2 opposite strand																		AGGCTGACTTGTCTGAAACTC	0.517000													7	201					0.00307968	0.00315908	1	1	0
TNR	7143	broad.mit.edu	37	1	175336348	175336348	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:175336348C>G	ENST00000367674.2	-	10	2757	c.2049G>C	c.(2047-2049)agG>agC	p.R683S	TNR_ENST00000263525.2_Missense_Mutation_p.R683S			Q92752	TENR_HUMAN	tenascin R		Fibronectin type-III 4.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					ACTCACCAGTCCTGGCATTCA	0.493000													27	85					0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119951548	119951548	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr4:119951548G>C	ENST00000307142.4	+	4	1814	c.1618G>C	c.(1618-1620)Gag>Cag	p.E540Q	SYNPO2_ENST00000434046.2_Missense_Mutation_p.E540Q|SYNPO2_ENST00000429713.2_Missense_Mutation_p.E540Q|SYNPO2_ENST00000448416.2_Intron	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	540						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						CCAAAGAAAGGAGGAAGAGTC	0.517000													53	54					0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86416022	86416022	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr7:86416022C>T	ENST00000361669.2	+	3	2013	c.914C>T	c.(913-915)gCg>gTg	p.A305V	GRM3_ENST00000536043.1_Missense_Mutation_p.A177V|GRM3_ENST00000394720.2_Missense_Mutation_p.A303V|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000439827.1_Missense_Mutation_p.A305V	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	305					synaptic transmission	integral to plasma membrane		p.A305V(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GGCTGGGGCGCGCAGGAGAGC	0.677000													15	83					0	0	1	0	0
RGS22	26166	broad.mit.edu	37	8	101075735	101075735	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr8:101075735A>G	ENST00000360863.6	-	8	1455	c.1261T>C	c.(1261-1263)Ttt>Ctt	p.F421L	RGS22_ENST00000523437.1_Missense_Mutation_p.F409L|RGS22_ENST00000523287.1_Missense_Mutation_p.F240L	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	421					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CCTTTTATAAATTTCTTAAAT	0.388000													15	68					0	0	1	0	0
PLXDC1	57125	broad.mit.edu	37	17	37265201	37265201	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:37265201G>C	ENST00000315392.4	-	4	636	c.425C>G	c.(424-426)cCt>cGt	p.P142R	PLXDC1_ENST00000394316.2_Missense_Mutation_p.P142R|PLXDC1_ENST00000444911.2_Missense_Mutation_p.P102R|PLXDC1_ENST00000539608.1_Missense_Mutation_p.P69R|PLXDC1_ENST00000493200.1_5'UTR	NM_020405.4	NP_065138.2	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1	142					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						CCCGTAGAAAGGGAAATCAAA	0.617000													14	29					0	0	1	0	0
N6AMT1	29104	broad.mit.edu	37	21	30255351	30255351	+	Silent	SNP	T	T	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr21:30255351T>C	ENST00000303775.5	-	2	202	c.177A>G	c.(175-177)gtA>gtG	p.V59V	N6AMT1_ENST00000351429.3_Silent_p.V59V	NM_013240.4	NP_037372	Q9Y5N5	HEMK2_HUMAN	N-6 adenine-specific DNA methyltransferase 1 (putative)	59					positive regulation of cell growth	protein complex	nucleic acid binding|protein binding|protein methyltransferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)	12						GGAATGCAGATACTACACCAG	0.353000													12	86					0	0	1	0	0
ITGA10	8515	broad.mit.edu	37	1	145534181	145534181	+	Silent	SNP	T	T	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:145534181T>C	ENST00000369304.3	+	14	1861	c.1686T>C	c.(1684-1686)gaT>gaC	p.D562D	ITGA10_ENST00000538811.1_Silent_p.D431D|ITGA10_ENST00000539363.1_Silent_p.D419D	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	562					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGAACCAAGATGGTTTTGCTG	0.582000													37	489					0	0	1	0	0
ECT2	1894	broad.mit.edu	37	3	172472376	172472376	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr3:172472376C>G	ENST00000417960.1	+	3	533	c.56C>G	c.(55-57)tCt>tGt	p.S19C	ECT2_ENST00000232458.5_Missense_Mutation_p.S19C|ECT2_ENST00000427830.1_Missense_Mutation_p.S19C|ECT2_ENST00000392692.3_Missense_Mutation_p.S19C|ECT2_ENST00000540509.1_Missense_Mutation_p.S19C|ECT2_ENST00000441497.2_Missense_Mutation_p.S19C	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	19					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			TTGGCAGACTCTTCCATTTTT	0.323000													13	17					0	0	1	0	0
ZNF471	57573	broad.mit.edu	37	19	57037045	57037045	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:57037045C>G	ENST00000308031.5	+	5	1742	c.1609C>G	c.(1609-1611)Cat>Gat	p.H537D	ZNF471_ENST00000593197.1_Intron|ZNF471_ENST00000591537.1_3'UTR	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	537					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		TCAGAAAACTCATACAGGAGA	0.393000													9	93					0	0	1	0	0
DRG2	1819	broad.mit.edu	37	17	17997132	17997132	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:17997132G>A	ENST00000225729.3	+	2	208	c.70G>A	c.(70-72)Gag>Aag	p.E24K	DRG2_ENST00000583355.1_Missense_Mutation_p.E24K|DRG2_ENST00000395726.4_Missense_Mutation_p.E24K	NM_001388.4	NP_001379.1	P55039	DRG2_HUMAN	developmentally regulated GTP binding protein 2	24					signal transduction		GTP binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	14	all_neural(463;0.228)					TTTAGCCACTGAGTATCATCT	0.577000													31	77					0	0	1	0	0
STAMBPL1	57559	broad.mit.edu	37	10	90672881	90672881	+	Silent	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr10:90672881C>G	ENST00000371927.3	+	6	1402	c.444C>G	c.(442-444)ctC>ctG	p.L148L	STAMBPL1_ENST00000371924.1_Silent_p.L148L|STAMBPL1_ENST00000371922.1_5'UTR|STAMBPL1_ENST00000371926.3_Silent_p.L148L			Q96FJ0	STALP_HUMAN	STAM binding protein-like 1	148							metal ion binding|metallopeptidase activity|protein binding			breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		CTGAAATTCTCAAAAAATTGG	0.408000													34	84					0	0	1	0	0
TRUB1	142940	broad.mit.edu	37	10	116698112	116698112	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr10:116698112A>C	ENST00000298746.3	+	1	161	c.100A>C	c.(100-102)Acc>Ccc	p.T34P		NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase family member 1	34					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	p.T34P(1)		breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		AATGGCTGCGACCCCGTCAGC	0.637000													5	5					0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155208658	155208658	+	Splice_Site	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr3:155208658C>G	ENST00000460012.1	-	19	2575		c.e19-1		PLCH1_ENST00000494598.1_Splice_Site|PLCH1_ENST00000334686.6_Splice_Site|PLCH1_ENST00000447496.2_Splice_Site|PLCH1_ENST00000414191.1_Splice_Site|PLCH1_ENST00000340059.7_Splice_Site			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1						lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GGTCAATGATCTATTAAGTAA	0.313000													6	48					0	0	1	0	0
THBS3	7059	broad.mit.edu	37	1	155172605	155172605	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:155172605C>T	ENST00000368378.3	-	8	975	c.955G>A	c.(955-957)Gag>Aag	p.E319K	RP11-263K19.4_ENST00000430312.1_RNA|THBS3_ENST00000541990.1_5'UTR|RP11-263K19.4_ENST00000422665.1_RNA|THBS3_ENST00000457183.2_Missense_Mutation_p.E199K|RP11-263K19.4_ENST00000453136.1_RNA|THBS3_ENST00000486260.1_5'UTR	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	319	EGF-like 2; calcium-binding (Potential).				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCCCTCACCTCATTGATGTCA	0.607000													42	143					0	0	1	0	0
PCSK4	54760	broad.mit.edu	37	19	1482922	1482922	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:1482922C>G	ENST00000300954.5	-	13	1730	c.1669G>C	c.(1669-1671)Gag>Cag	p.E557Q		NM_017573.3	NP_060043.2	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	557					proteolysis	integral to membrane	serine-type endopeptidase activity			cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		CCCTTGTTCTCTAGGCCCAGG	0.627000													16	34					0	0	1	0	0
POU2F2	5452	broad.mit.edu	37	19	42600386	42600386	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:42600386G>A	ENST00000342301.4	-	8	577	c.511C>T	c.(511-513)Cgc>Tgc	p.R171C	POU2F2_ENST00000560398.1_Intron|POU2F2_ENST00000533720.1_Intron|POU2F2_ENST00000529952.1_Missense_Mutation_p.R171C|POU2F2_ENST00000529067.1_Intron|POU2F2_ENST00000526816.2_Missense_Mutation_p.R171C|POU2F2_ENST00000389341.5_Intron|POU2F2_ENST00000560558.1_Intron			P09086	PO2F2_HUMAN	POU class 2 homeobox 2	171					humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				AGCGTAGGGCGGGTCACGGCC	0.706000													5	23					0	0	1	0	0
VRTN	55237	broad.mit.edu	37	14	74825233	74825233	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr14:74825233G>T	ENST00000256362.4	+	2	1988	c.1747G>T	c.(1747-1749)Gat>Tat	p.D583Y		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	583					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						GGCTGGCAGGGATGTGACAGC	0.652000													11	108					0.00829132	0.00845836	1	1	0
AMACR	23600	broad.mit.edu	37	5	33989503	33989503	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr5:33989503C>T	ENST00000335606.6	-	5	932	c.844G>A	c.(844-846)Gag>Aag	p.E282K	RP11-1084J3.4_ENST00000382079.3_3'UTR|AMACR_ENST00000382072.2_3'UTR|AMACR_ENST00000382085.3_Missense_Mutation_p.E282K|AMACR_ENST00000502637.1_Missense_Mutation_p.E267K|AMACR_ENST00000514195.1_5'UTR	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	282					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						TGACACCACTCTGCCTTCGTC	0.458000													63	83					0	0	1	0	0
ZNF629	23361	broad.mit.edu	37	16	30795800	30795800	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr16:30795800C>T	ENST00000262525.4	-	2	211	c.4G>A	c.(4-6)Gag>Aag	p.E2K		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	2					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			GTCTCGGGCTCCATCCCAGAG	0.632000													3	6					0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	43950813	43950813	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr22:43950813G>T	ENST00000262726.7	-	27	3837	c.3584C>A	c.(3583-3585)aCc>aAc	p.T1195N	EFCAB6_ENST00000461800.1_5'UTR|EFCAB6_ENST00000396231.2_Missense_Mutation_p.T1043N	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1195	EF-hand 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TCTGGAGATGGTGTTCGTTTT	0.527000													26	191					4.7796e-09	5.19969e-09	1	1	0
METAP1D	254042	broad.mit.edu	37	2	172945092	172945092	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:172945092G>A	ENST00000315796.4	+	10	1353	c.966G>A	c.(964-966)tcG>tcA	p.S322S	METAP1D_ENST00000488581.1_3'UTR	NM_199227.1	NP_954697.1	Q6UB28	AMP1D_HUMAN	methionyl aminopeptidase type 1D (mitochondrial)	322					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis	mitochondrion	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	8						TGATCACGTCGAGGGGCGCGC	0.612000													255	167					0	0	1	0	0
ARMC3	219681	broad.mit.edu	37	10	23250840	23250840	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr10:23250840G>T	ENST00000298032.5	+	7	649	c.565G>T	c.(565-567)Gaa>Taa	p.E189*	ARMC3_ENST00000409049.3_Nonsense_Mutation_p.E189*|ARMC3_ENST00000376528.4_Intron|ARMC3_ENST00000409983.3_Nonsense_Mutation_p.E189*	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	189							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TAAACTTCAAGAACTAAATGC	0.333000													6	24					0.00198382	0.00204627	1	1	0
DPF1	8193	broad.mit.edu	37	19	38709684	38709684	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:38709684G>A	ENST00000416611.1	-	4	439	c.316C>T	c.(316-318)Ctg>Ttg	p.L106L	DPF1_ENST00000414789.1_Silent_p.L50L|DPF1_ENST00000420980.2_Silent_p.L132L|DPF1_ENST00000412732.1_Silent_p.L50L|DPF1_ENST00000355526.4_Silent_p.L132L|DPF1_ENST00000456296.1_Silent_p.L106L			Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1	132					induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TCCTTCTTCAGGGGTGCTTCA	0.612000													38	270					0	0	1	0	0
MAMSTR	284358	broad.mit.edu	37	19	49218558	49218558	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:49218558G>C	ENST00000318083.6	-	5	449	c.386C>G	c.(385-387)tCt>tGt	p.S129C	MAMSTR_ENST00000594582.1_Missense_Mutation_p.S26C|MAMSTR_ENST00000356751.4_Missense_Mutation_p.S26C|MAMSTR_ENST00000377367.3_Missense_Mutation_p.S26C|MAMSTR_ENST00000419611.1_Missense_Mutation_p.S26C			Q6ZN01	MASTR_HUMAN	MEF2 activating motif and SAP domain containing transcriptional regulator	129	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(1)|ovary(1)	2						TTCCCACAGAGATGGCCCAGG	0.627000													3	9					0	0	1	0	0
KIAA1683	80726	broad.mit.edu	37	19	18375916	18375916	+	Missense_Mutation	SNP	C	C	T	rs140540623		TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:18375916C>T	ENST00000392413.4	-	3	2649	c.2434G>A	c.(2434-2436)Gtg>Atg	p.V812M	KIAA1683_ENST00000600359.3_Missense_Mutation_p.V766M|KIAA1683_ENST00000600328.3_Missense_Mutation_p.V812M	NM_001145304.1	NP_001138776.1	Q9H0B3	K1683_HUMAN	KIAA1683							mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TTCCCCGGCACGTGTCCGTGG	0.687000													15	100					0	0	1	0	0
SMPD3	55512	broad.mit.edu	37	16	68405651	68405651	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr16:68405651A>T	ENST00000219334.5	-	3	1037	c.434T>A	c.(433-435)tTt>tAt	p.F145Y	SMPD3_ENST00000563226.1_Missense_Mutation_p.F145Y|SMPD3_ENST00000568373.1_Missense_Mutation_p.F145Y	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	145					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	TTGGGTGTTAAAAAGGTTGTT	0.592000													9	26					0	0	1	0	0
RPUSD2	27079	broad.mit.edu	37	15	40861663	40861663	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr15:40861663G>T	ENST00000315616.7	+	1	165	c.127G>T	c.(127-129)Gtt>Ttt	p.V43F	RPUSD2_ENST00000559271.1_Missense_Mutation_p.V43F	NM_152260.1	NP_689473.1	Q8IZ73	RUSD2_HUMAN	RNA pseudouridylate synthase domain containing 2	43					pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding			kidney(4)|lung(4)|skin(3)	11		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)		GTCTACCCAGGTTGGGACAGA	0.627000													25	40					1.10923e-09	1.21383e-09	1	1	0
ERMN	57471	broad.mit.edu	37	2	158178129	158178129	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:158178129A>G	ENST00000410096.1	-	3	800	c.509T>C	c.(508-510)aTg>aCg	p.M170T	ERMN_ENST00000535935.1_Missense_Mutation_p.M64T|ERMN_ENST00000420719.2_Missense_Mutation_p.M150T|ERMN_ENST00000397283.2_Missense_Mutation_p.M183T	NM_020711.1	NP_065762.1	Q8TAM6	ERMIN_HUMAN	ermin, ERM-like protein	170						cytoplasm|cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						AGAATGTAACATGTCAGCTTG	0.413000													40	220					0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	994879	994879	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr12:994879G>A	ENST00000537687.1	+	19	6332	c.5689G>A	c.(5689-5691)Gaa>Aaa	p.E1897K	WNK1_ENST00000340908.4_Missense_Mutation_p.E1230K|WNK1_ENST00000535572.1_Missense_Mutation_p.E1390K|WNK1_ENST00000315939.6_Missense_Mutation_p.E1637K|WNK1_ENST00000530271.2_Missense_Mutation_p.E2135K	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1637					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TCATTGTCCTGAAGTAGATTC	0.473000													71	68					0	0	1	0	0
CSAG4	100130935	broad.mit.edu	37	X	151896231	151896231	+	RNA	SNP	A	A	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chrX:151896231A>G	ENST00000361201.4	-	0	499					NR_073432.1															endometrium(2)|kidney(2)|lung(1)	5						GAGTGGCTGGATAGTGTTGGC	0.517000													8	31					0	0	1	0	0
CCDC120	90060	broad.mit.edu	37	X	48921477	48921477	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chrX:48921477G>A	ENST00000376396.3	+	5	488	c.269G>A	c.(268-270)cGc>cAc	p.R90H	CCDC120_ENST00000496529.2_Missense_Mutation_p.R90H|CCDC120_ENST00000597275.1_Missense_Mutation_p.R90H|CCDC120_ENST00000536628.2_Missense_Mutation_p.R78H|CCDC120_ENST00000603986.1_Missense_Mutation_p.R125H|CCDC120_ENST00000422185.2_Missense_Mutation_p.R90H	NM_001271835.1|NM_001271836.1|NM_033626.2	NP_001258764.1|NP_001258765.1|NP_296375.1	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120	90							protein binding			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						CCCACAGCCCGCGCCTACCCT	0.682000													4	22					0	0	1	0	0
FUS	2521	broad.mit.edu	37	16	31195261	31195261	+	Nonsense_Mutation	SNP	C	C	A	rs73530286	byFrequency	TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr16:31195261C>A	ENST00000254108.7	+	4	378	c.273C>A	c.(271-273)taC>taA	p.Y91*	FUS_ENST00000568685.1_Nonsense_Mutation_p.Y91*|FUS_ENST00000380244.3_Nonsense_Mutation_p.Y90*	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	fused in sarcoma	91	Gln/Gly/Ser/Tyr-rich.				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		AATCGTCTTACGGGCAGCAGT	0.572000			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""								133	199					4.09656e-53	4.83429e-53	1	1	0
IFNG	3458	broad.mit.edu	37	12	68553296	68553296	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr12:68553296G>C	ENST00000229135.3	-	1	231	c.100C>G	c.(100-102)Ctt>Gtt	p.L34V	IFNG-AS1_ENST00000536914.1_RNA	NM_000619.2	NP_000610.2	P01579	IFNG_HUMAN	interferon, gamma	34					cell cycle arrest|interferon-gamma-mediated signaling pathway|negative regulation of interleukin-17 production|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of metanephric nephron tubule epithelial cell differentiation|negative regulation of smooth muscle cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity|positive regulation of fructose 1,6-bisphosphate metabolic process|positive regulation of interleukin-12 production|positive regulation of interleukin-23 production|positive regulation of killing of cells of other organism|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mesenchymal cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of smooth muscle cell apoptosis|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|regulation of insulin secretion|regulation of interferon-gamma-mediated signaling pathway|response to virus	extracellular space	cytokine activity|interferon-gamma receptor binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000829)	Glucosamine(DB01296)|Interferon gamma-1b(DB00033)|Simvastatin(DB00641)	TATTTCTTAAGGTTTTCTGCT	0.363000													5	51					0	0	1	0	0
ZYG11B	79699	broad.mit.edu	37	1	53287142	53287142	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:53287142A>C	ENST00000294353.6	+	14	2221	c.2076A>C	c.(2074-2076)gaA>gaC	p.E692D	ZYG11B_ENST00000443756.2_Missense_Mutation_p.E622D	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	692							protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						TGATTGAAGAAGGAGGATTGC	0.358000													4	55					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141092027	141092027	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:141092027G>A	ENST00000389484.3	-	79	13189	c.12218C>T	c.(12217-12219)cCc>cTc	p.P4073L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4073					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)		CATACCTGTGGGTCTCTGTAA	0.363000										TSP Lung(27;0.18)			35	67					0	0	1	0	0
CHURC1	91612	broad.mit.edu	37	14	65381210	65381210	+	Silent	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr14:65381210C>T	ENST00000607599.1	+	1	132	c.78C>T	c.(76-78)gtC>gtT	p.V26V	CHURC1_ENST00000359118.2_5'UTR|FNTB_ENST00000542227.1_5'UTR|FNTB_ENST00000447296.2_5'Flank|CHURC1-FNTB_ENST00000549987.1_5'Flank|CHURC1_ENST00000549115.1_Silent_p.V26V|CHURC1_ENST00000552002.2_5'UTR|CHURC1_ENST00000548752.2_Silent_p.V26V	NM_001204063.1|NM_145165.3	NP_001190992.1|NP_660148.3			churchill domain containing 1											breast(1)|pancreas(1)	2				all cancers(60;0.00119)|OV - Ovarian serous cystadenocarcinoma(108;0.0056)|BRCA - Breast invasive adenocarcinoma(234;0.00976)		TTGACTGCGTCGCGATGTGTG	0.617000													84	195					0	0	1	0	0
CRB2	286204	broad.mit.edu	37	9	126128573	126128573	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr9:126128573G>A	ENST00000373631.3	+	4	683	c.682G>A	c.(682-684)Gca>Aca	p.A228T	CRB2_ENST00000359999.3_Missense_Mutation_p.A228T	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	228	EGF-like 5.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						GCTGGAGTGCGCATCGGCGCC	0.741000													5	3					0	0	1	0	0
SEC16A	9919	broad.mit.edu	37	9	139348776	139348776	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr9:139348776G>A	ENST00000313050.7	-	19	5934	c.5861C>T	c.(5860-5862)cCg>cTg	p.P1954L	SEC16A_ENST00000371706.3_Missense_Mutation_p.P1776L|SEC16A_ENST00000290037.6_Missense_Mutation_p.P1776L|SEC16A_ENST00000431893.2_Missense_Mutation_p.P1776L	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1776	Pro-rich.|Required for interaction with SEC23A.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GAGCGTCTGCGGAGCTGCATG	0.602000													2	5					0	0	1	0	0
NIN	51199	broad.mit.edu	37	14	51288736	51288736	+	Silent	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr14:51288736G>C	ENST00000245441.5	-	3	229	c.39C>G	c.(37-39)ctC>ctG	p.L13L	NIN_ENST00000382043.4_Silent_p.L13L|NIN_ENST00000382041.3_Silent_p.L13L|NIN_ENST00000530997.2_Silent_p.L13L|NIN_ENST00000453196.1_Silent_p.L13L|RP11-286O18.1_ENST00000555966.1_RNA|NIN_ENST00000324330.9_Silent_p.L13L|NIN_ENST00000389868.3_Silent_p.L13L	NM_020921.3	NP_065972	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	13	EF-hand 1.				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)					ACAGCTCCTTGAGTCGGGCCT	0.587000			T	PDGFRB	MPD								147	301					0	0	1	0	0
IYD	389434	broad.mit.edu	37	6	150713540	150713540	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr6:150713540G>C	ENST00000344419.3	+	3	570	c.430G>C	c.(430-432)Gac>Cac	p.D144H	IYD_ENST00000500320.3_Missense_Mutation_p.D144H|IYD_ENST00000229447.5_Missense_Mutation_p.D144H|IYD_ENST00000425615.3_Missense_Mutation_p.D89H|IYD_ENST00000392256.2_Missense_Mutation_p.D144H|IYD_ENST00000392255.3_Missense_Mutation_p.D144H	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase	144					cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		GAAGGACCCAGACGTGAAGCA	0.493000													23	196					0	0	1	0	0
ZIC4	84107	broad.mit.edu	37	3	147113765	147113765	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr3:147113765T>G	ENST00000383075.3	-	3	1074	c.562A>C	c.(562-564)Aaa>Caa	p.K188Q	ZIC4_ENST00000425731.3_Missense_Mutation_p.K226Q|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000484399.1_Missense_Mutation_p.K188Q|ZIC4_ENST00000473123.1_Missense_Mutation_p.K188Q|ZIC4_ENST00000525172.2_Missense_Mutation_p.K238Q	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	188						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						AGTTTGTATTTGGCTTTGAAG	0.572000													30	367					0	0	1	0	0
CASKIN2	57513	broad.mit.edu	37	17	73498040	73498040	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:73498040G>C	ENST00000321617.3	-	18	3701	c.3115C>G	c.(3115-3117)Ccc>Gcc	p.P1039A	CASKIN2_ENST00000433559.2_Missense_Mutation_p.P957A	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	1039	Pro-rich.					cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTGGGCTCGGGCTGGGGAAGG	0.697000													11	148					0	0	1	0	0
AKAP8L	26993	broad.mit.edu	37	19	15512114	15512114	+	Silent	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:15512114G>C	ENST00000397410.5	-	5	793	c.663C>G	c.(661-663)ctC>ctG	p.L221L	AKAP8L_ENST00000595465.2_Silent_p.L160L	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like							cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						TCTGGGAGAAGAGGGAGGGCA	0.672000													87	93					0	0	1	0	0
DNAAF1	123872	broad.mit.edu	37	16	84203923	84203923	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr16:84203923G>A	ENST00000378553.5	+	8	1613	c.1489G>A	c.(1489-1491)Gag>Aag	p.E497K	DNAAF1_ENST00000563818.1_3'UTR	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	497	Pro-rich.				axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						CCTCCCAGCTGAGGCCCCACC	0.627000													32	70					0	0	1	0	0
RXFP4	339403	broad.mit.edu	37	1	155912334	155912334	+	Silent	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:155912334C>T	ENST00000368318.3	+	1	855	c.834C>T	c.(832-834)ccC>ccT	p.P278P		NM_181885.2	NP_871001.1	Q8TDU9	RL3R2_HUMAN	relaxin/insulin-like family peptide receptor 4	278						integral to membrane|plasma membrane	angiotensin type II receptor activity			endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	13	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					ACCTGGTGCCCTGGAACAGTA	0.537000													172	204					0	0	1	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47440617	47440617	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:47440617C>G	ENST00000404338.3	+	2	3778	c.3778C>G	c.(3778-3780)Ccg>Gcg	p.P1260A		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1260	Rho-GAP.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										TCCAGAGAAGCCGATCCCCAT	0.443000													9	114					0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42005561	42005561	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr7:42005561G>A	ENST00000395925.3	-	15	3194	c.3110C>T	c.(3109-3111)aCg>aTg	p.T1037M	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1037					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CTCCGCGGACGTGGCCATCGC	0.697000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				17	60					0	0	1	0	0
SEC14L1	6397	broad.mit.edu	37	17	75189528	75189528	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:75189528C>T	ENST00000413679.2	+	6	674	c.371C>T	c.(370-372)aCc>aTc	p.T124I	SEC14L1_ENST00000431431.2_Missense_Mutation_p.T90I|SEC14L1_ENST00000436233.4_Missense_Mutation_p.T124I|SEC14L1_ENST00000392476.2_Missense_Mutation_p.T124I|SEC14L1_ENST00000430767.4_Missense_Mutation_p.T124I|SEC14L1_ENST00000585618.1_Missense_Mutation_p.T124I|SEC14L1_ENST00000443798.4_Missense_Mutation_p.T124I|SEC14L1_ENST00000591437.1_Missense_Mutation_p.T90I	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	124	PRELI/MSF1.				transport	Golgi apparatus|integral to membrane	binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						GAAGATTGGACCTGTTTTGAA	0.358000													6	92					0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35579727	35579727	+	Splice_Site	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr8:35579727G>C	ENST00000287272.2	+	8	969		c.e8-1		UNC5D_ENST00000420357.1_Splice_Site|UNC5D_ENST00000404895.2_Splice_Site|UNC5D_ENST00000453357.2_Splice_Site|UNC5D_ENST00000416672.1_Splice_Site			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)						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)		GTGTCTTTCAGGCATTGAGAA	0.488000													7	180					0	0	1	0	0
OR2B2	81697	broad.mit.edu	37	6	27879892	27879892	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr6:27879892A>T	ENST00000303324.2	-	1	282	c.206T>A	c.(205-207)cTg>cAg	p.L69Q		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						GCAAAGGTCCAGGAGTGAGAG	0.413000													37	80					0	0	1	0	0
SLC6A12	6539	broad.mit.edu	37	12	306659	306659	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr12:306659A>C	ENST00000428720.1	-	10	1702	c.959T>G	c.(958-960)aTc>aGc	p.I320S	SLC6A12_ENST00000536824.1_Missense_Mutation_p.I320S|SLC6A12_ENST00000424061.2_Missense_Mutation_p.I320S|SLC6A12_ENST00000397296.2_Missense_Mutation_p.I320S|SLC6A12_ENST00000359674.4_Missense_Mutation_p.I320S	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	320					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)			GCAGAGGGCGATGCAGTCCCT	0.557000													4	36					0	0	1	0	0
ZNF551	90233	broad.mit.edu	37	19	58198132	58198132	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:58198132G>A	ENST00000282296.5	+	3	674	c.489G>A	c.(487-489)aaG>aaA	p.K163K	ZNF551_ENST00000596085.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000599402.1_3'UTR|AC003006.7_ENST00000599221.1_Intron|ZNF551_ENST00000356715.4_Silent_p.K147K			Q7Z340	ZN551_HUMAN	zinc finger protein 551	163					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GGAAAAGGAAGGTGGATGAGG	0.507000													119	94					0	0	1	0	0
STOML2	30968	broad.mit.edu	37	9	35102793	35102793	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr9:35102793G>C	ENST00000356493.5	-	2	135	c.73C>G	c.(73-75)Ccg>Gcg	p.P25A	STOML2_ENST00000452248.2_Missense_Mutation_p.P25A	NM_013442.1	NP_038470.1	Q9UJZ1	STML2_HUMAN	stomatin (EPB72)-like 2	25						cytoskeleton	receptor binding	p.P25A(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GCGCGGCGCGGAGCGCGGCCA	0.647000													34	77					0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2978460	2978460	+	Silent	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr7:2978460C>T	ENST00000396946.4	-	7	1273	c.870G>A	c.(868-870)ggG>ggA	p.G290G		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	290					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GGCTGCGCTTCCCGGCCTGGG	0.632000			Mis		DLBCL								7	65					0	0	1	0	0
KIAA1211L	343990	broad.mit.edu	37	2	99463218	99463218	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:99463218C>T	ENST00000397899.2	-	2	377	c.46G>A	c.(46-48)Gaa>Aaa	p.E16K	KIAA1211L_ENST00000462314.1_5'UTR	NM_207362.2	NP_997245.2			KIAA1211-like																		CCAAGGCCTTCTGCAGCCTCC	0.527000													43	76					0	0	1	0	0
CCDC104	112942	broad.mit.edu	37	2	55764680	55764680	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:55764680A>G	ENST00000349456.4	+	7	747	c.599A>G	c.(598-600)aAt>aGt	p.N200S	CCDC104_ENST00000490934.1_3'UTR|CCDC104_ENST00000406691.3_Missense_Mutation_p.N200S|CCDC104_ENST00000339012.3_Missense_Mutation_p.N225S|CCDC104_ENST00000407816.3_Missense_Mutation_p.N200S			Q96G28	CC104_HUMAN	coiled-coil domain containing 104	200										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ATAATGAATAATTCCCAAGGG	0.373000													6	101					0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	81746455	81746455	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr7:81746455C>T	ENST00000356860.3	-	6	769	c.431G>A	c.(430-432)aGg>aAg	p.R144K	CACNA2D1_ENST00000356253.5_Missense_Mutation_p.R144K|CACNA2D1_ENST00000423588.1_Missense_Mutation_p.R144K	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	144						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	AGGTTTTATCCTCTGGCTGCC	0.358000													10	46					0	0	1	0	0
ZNF257	113835	broad.mit.edu	37	19	22271880	22271880	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:22271880C>A	ENST00000594947.1	+	4	1472	c.1328C>A	c.(1327-1329)tCt>tAt	p.S443Y		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	443					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTTAACCGGTCTTCATACCTT	0.408000													15	22					0.000219431	0.000227181	1	1	0
KIAA0513	9764	broad.mit.edu	37	16	85100858	85100858	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr16:85100858C>T	ENST00000566428.1	+	2	812	c.181C>T	c.(181-183)Ccc>Tcc	p.P61S	KIAA0513_ENST00000538274.1_Missense_Mutation_p.P61S|KIAA0513_ENST00000567328.1_Missense_Mutation_p.P61S|KIAA0513_ENST00000258180.3_Missense_Mutation_p.P61S			O60268	K0513_HUMAN	KIAA0513	61						cytoplasm				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		GGGCGAGTCGCCCTCGCACCC	0.632000													6	98					0	0	1	0	0
OR4Q3	441669	broad.mit.edu	37	14	20215775	20215775	+	Silent	SNP	T	T	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr14:20215775T>C	ENST00000331723.1	+	1	189	c.189T>C	c.(187-189)ttT>ttC	p.F63F		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGTATTATTTTTTAGGTCATC	0.413000													59	143					0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226447337	226447337	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:226447337G>C	ENST00000272907.6	+	4	1617	c.1204G>C	c.(1204-1206)Gga>Cga	p.G402R	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	402	Pro-rich.																CGCGGCCCTGGGACCTGCCTC	0.667000													5	4					0	0	1	0	0
PCBP3	54039	broad.mit.edu	37	21	47333995	47333995	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr21:47333995A>C	ENST00000400304.1	+	7	635	c.635A>C	c.(634-636)cAc>cCc	p.H212P	PCBP3_ENST00000449640.1_Intron|PCBP3_ENST00000400308.1_Intron|PCBP3_ENST00000400310.1_Intron|PCBP3_ENST00000400309.1_Intron|PCBP3_ENST00000400314.1_Intron			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	225					mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		TTACTGCAGCACCCGCCGCTG	0.627000													4	10					0	0	1	0	0
CARD14	79092	broad.mit.edu	37	17	78162187	78162187	+	Silent	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:78162187G>C	ENST00000573882.1	+	7	1223	c.687G>C	c.(685-687)ctG>ctC	p.L229L	CARD14_ENST00000344227.2_Silent_p.L229L|CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000392434.2_5'UTR|CARD14_ENST00000570421.1_Silent_p.L229L			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	229					activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TGTATCTACTGAAGCAGGAGC	0.587000													36	43					0	0	1	0	0
ATF7IP2	80063	broad.mit.edu	37	16	10566012	10566012	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr16:10566012G>A	ENST00000396560.2	+	8	1625	c.1398G>A	c.(1396-1398)ttG>ttA	p.L466L	ATF7IP2_ENST00000543967.1_Silent_p.L10L|ATF7IP2_ENST00000396559.1_Silent_p.L466L|ATF7IP2_ENST00000324570.5_Silent_p.L466L|ATF7IP2_ENST00000356427.2_Silent_p.L466L	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	466					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						GTCCTAATTTGACAACTCCAA	0.284000													11	15					0	0	1	0	0
ZNF598	90850	broad.mit.edu	37	16	2050414	2050414	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr16:2050414G>A	ENST00000563630.1	-	8	1347	c.1105C>T	c.(1105-1107)Cca>Tca	p.P369S	ZNF598_ENST00000431526.1_Missense_Mutation_p.P424S|ZNF598_ENST00000562103.1_Missense_Mutation_p.P369S			Q86UK7	ZN598_HUMAN	zinc finger protein 598	424						intracellular	zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						ACACACCCTGGGGCGGCTGGG	0.652000													8	81					0	0	1	0	0
OLFML2B	25903	broad.mit.edu	37	1	161954646	161954646	+	Silent	SNP	A	A	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:161954646A>G	ENST00000294794.3	-	7	2022	c.1599T>C	c.(1597-1599)taT>taC	p.Y533Y	OLFML2B_ENST00000367940.2_Silent_p.Y534Y|OLFML2B_ENST00000367938.1_Silent_p.Y16Y	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	533	Olfactomedin-like.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			TGCCGTAGTAATAGTTGGTTA	0.537000													76	382					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49431525	49431525	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr12:49431525C>A	ENST00000301067.7	-	34	9613	c.9614G>T	c.(9613-9615)gGa>gTa	p.G3205V		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.G2935V(1)|p.G3205V(1)									GGAGGATCCTCCTGGGCCACT	0.602000													4	21					0.150653	0.150924	1	1	0
FLJ33360	401172	broad.mit.edu	37	5	6337301	6337301	+	RNA	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr5:6337301C>T	ENST00000507444.1	-	0	104					NR_028351.1																						AATGCAGGTGCCGTCCATGCT	0.527000													18	189					0	0	1	0	0
CCHCR1	54535	broad.mit.edu	37	6	31110756	31110756	+	Silent	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr6:31110756G>C	ENST00000396268.3	-	17	2663	c.2475C>G	c.(2473-2475)acC>acG	p.T825T	CCHCR1_ENST00000451521.2_Silent_p.T789T|CCHCR1_ENST00000376266.5_Silent_p.T736T|CCHCR1_ENST00000396263.2_Silent_p.T683T	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	736					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						TGGACTCCCTGGTGGGCACTG	0.532000													69	844					0	0	1	0	0
BPNT1	10380	broad.mit.edu	37	1	220233036	220233036	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:220233036G>T	ENST00000469520.2	-	9	1219	c.770C>A	c.(769-771)gCt>gAt	p.A257D	BPNT1_ENST00000322067.7_Missense_Mutation_p.A257D|BPNT1_ENST00000544404.1_Missense_Mutation_p.A202D|BPNT1_ENST00000354807.3_Missense_Mutation_p.A272D|BPNT1_ENST00000414869.2_Missense_Mutation_p.A221D			O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	257					3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process	cytosol	3'(2'),5'-bisphosphate nucleotidase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14				GBM - Glioblastoma multiforme(131;0.0558)		ACCTCCCACAGCATGTAAAAT	0.338000													14	136					1.5842e-08	1.70019e-08	1	1	0
LOXL3	84695	broad.mit.edu	37	2	74779494	74779494	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:74779494C>G	ENST00000264094.3	-	2	339	c.268G>C	c.(268-270)Gag>Cag	p.E90Q	LOXL3_ENST00000409249.1_Missense_Mutation_p.E90Q|LOXL3_ENST00000409549.1_Missense_Mutation_p.E90Q|LOXL3_ENST00000484369.1_5'UTR|LOXL3_ENST00000393937.2_Missense_Mutation_p.E90Q|LOXL3_ENST00000409986.1_Missense_Mutation_p.E90Q|DOK1_ENST00000409429.1_Intron	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	90	SRCR 1.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						CCTGTGGCCTCTGTGAAGCCC	0.572000													16	85					0	0	1	0	0
DCST1	149095	broad.mit.edu	37	1	155018907	155018907	+	Silent	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:155018907C>T	ENST00000295542.1	+	13	1536	c.1440C>T	c.(1438-1440)ctC>ctT	p.L480L	DCST1_ENST00000423025.2_Silent_p.L455L|DCST1_ENST00000392480.1_Silent_p.L480L|DCST1_ENST00000368419.2_Silent_p.L480L	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	480						integral to membrane	zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			ACTGGGCTCTCTACTCCATCT	0.612000													16	186					0	0	1	0	0
ANKRD12	23253	broad.mit.edu	37	18	9255912	9255912	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr18:9255912A>G	ENST00000262126.4	+	9	2887	c.2647A>G	c.(2647-2649)Aaa>Gaa	p.K883E	ANKRD12_ENST00000383440.2_Missense_Mutation_p.K860E|ANKRD12_ENST00000400020.3_Missense_Mutation_p.K860E	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12							nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						AAAATGCCATAAAGAAGGTGA	0.333000													5	51					0	0	1	0	0
XG	7499	broad.mit.edu	37	X	2670373	2670373	+	Silent	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chrX:2670373C>A	ENST00000426774.1	+	1	281	c.58C>A	c.(58-60)Cga>Aga	p.R20R	XG_ENST00000381174.5_Silent_p.R20R|XG_ENST00000419513.2_Silent_p.R20R	NM_001141920.1|NM_175569.2	NP_001135392.1|NP_780778.1	P55808	XG_HUMAN	Xg blood group	20						integral to membrane|plasma membrane				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				AATGCACGCCCGAGGTAAGAG	0.483000													114	190					3.17917e-66	3.75966e-66	1	1	0
L3MBTL1	26013	broad.mit.edu	37	20	42159033	42159033	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr20:42159033C>A	ENST00000444063.1	+	7	1028	c.896C>A	c.(895-897)aCg>aAg	p.T299K	L3MBTL1_ENST00000418998.1_Missense_Mutation_p.T367K|L3MBTL1_ENST00000427442.2_Missense_Mutation_p.T367K|L3MBTL1_ENST00000373134.1_Missense_Mutation_p.T299K|L3MBTL1_ENST00000373135.3_Missense_Mutation_p.T299K			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	299					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						TTCGAGAAGACGGGCCACAAG	0.577000													16	220					6.49762e-13	7.2239e-13	1	1	0
CUBN	8029	broad.mit.edu	37	10	17107518	17107518	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr10:17107518C>T	ENST00000377833.4	-	22	3193	c.3128G>A	c.(3127-3129)aGt>aAt	p.S1043N		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1043					cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGTTGCTGCACTGATTGCTTC	0.423000													54	217					0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42003201	42003201	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr15:42003201C>T	ENST00000219905.7	+	8	2919	c.2738C>T	c.(2737-2739)tCa>tTa	p.S913L	MGA_ENST00000545763.1_Missense_Mutation_p.S913L|MGA_ENST00000389936.4_Missense_Mutation_p.S913L|MGA_ENST00000566586.1_Missense_Mutation_p.S913L|MGA_ENST00000570161.1_Missense_Mutation_p.S913L	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	913						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		CGAACTAAATCATCTTATAAA	0.403000													38	101					0	0	1	0	0
PI4K2A	55361	broad.mit.edu	37	10	99400862	99400862	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr10:99400862C>G	ENST00000370631.3	+	1	420	c.363C>G	c.(361-363)atC>atG	p.I121M	PI4K2A_ENST00000370649.3_Intron|PI4K2A_ENST00000555577.1_Intron	NM_018425.2	NP_060895.1	Q9BTU6	P4K2A_HUMAN	phosphatidylinositol 4-kinase type 2 alpha	121					phosphatidylinositol biosynthetic process	cytoplasm|integral to plasma membrane|membrane raft	1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		AGCTGGCCATCGAGCGCTGCA	0.711000													8	28					0	0	1	0	0
CPNE7	27132	broad.mit.edu	37	16	89661901	89661901	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr16:89661901T>A	ENST00000268720.5	+	16	1784	c.1654T>A	c.(1654-1656)Ttc>Atc	p.F552I	CPNE7_ENST00000319518.8_Missense_Mutation_p.F477I|CPNE7_ENST00000566398.1_3'UTR	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII	552	VWFA.				lipid metabolic process		transporter activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		CAACGCCGACTTCACCGACAT	0.682000													5	111					0	0	1	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37730513	37730513	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr8:37730513C>T	ENST00000330843.4	-	4	1819	c.1807G>A	c.(1807-1809)Gca>Aca	p.A603T	RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000524118.1_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	603	Ser-rich.				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			ATGGGAGCTGCTATGGGAGAT	0.547000													34	111					0	0	1	0	0
TNPO2	30000	broad.mit.edu	37	19	12817453	12817453	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:12817453T>C	ENST00000425528.1	-	14	1784	c.1427A>G	c.(1426-1428)aAg>aGg	p.K476R	TNPO2_ENST00000588216.1_Missense_Mutation_p.K476R|TNPO2_ENST00000450764.2_Missense_Mutation_p.K476R|TNPO2_ENST00000441499.1_Missense_Mutation_p.K476R|TNPO2_ENST00000356861.5_Missense_Mutation_p.K476R|TNPO2_ENST00000592287.1_Missense_Mutation_p.K476R			O14787	TNPO2_HUMAN	transportin 2	476					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CATCAGGGGCTTGAGGTGCAT	0.637000													7	77					0	0	1	0	0
C10orf35	219738	broad.mit.edu	37	10	71392625	71392625	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr10:71392625C>T	ENST00000373279.4	+	4	335	c.176C>T	c.(175-177)gCt>gTt	p.A59V	C10orf35_ENST00000491890.1_3'UTR	NM_145306.2	NP_660349.1	Q96D05	CJ035_HUMAN	chromosome 10 open reading frame 35	59						integral to membrane				breast(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						AGGCTGGGTGCTGCTCAGTCC	0.627000													5	84					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110489537	110489537	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr8:110489537C>T	ENST00000378402.5	+	53	9105	c.9001C>T	c.(9001-9003)Caa>Taa	p.Q3001*		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3001					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)			TATTAATTTCCAAGCTTACTG	0.418000										HNSCC(38;0.096)			34	45					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131356542	131356542	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr9:131356542G>T	ENST00000372739.3	+	24	3414	c.3304G>T	c.(3304-3306)Gaa>Taa	p.E1102*	SPTAN1_ENST00000358161.5_Nonsense_Mutation_p.E1102*|SPTAN1_ENST00000475367.1_3'UTR|SPTAN1_ENST00000372731.4_Nonsense_Mutation_p.E1102*	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1102					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						TGAAGCGAATGAACTACAGCA	0.468000													48	38					1.19451e-25	1.37468e-25	1	1	0
MED12L	116931	broad.mit.edu	37	3	150883748	150883748	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr3:150883748C>G	ENST00000474524.1	+	10	1511	c.1473C>G	c.(1471-1473)aaC>aaG	p.N491K	MED12L_ENST00000273432.4_Missense_Mutation_p.N351K|MED12L_ENST00000422248.2_Missense_Mutation_p.N491K|MED12L_ENST00000309237.4_Missense_Mutation_p.N491K	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	491					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCTGGGCAAACCAAAACAAAG	0.348000													6	142					0	0	1	0	0
RSPO1	284654	broad.mit.edu	37	1	38079496	38079496	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:38079496G>A	ENST00000356545.2	-	7	1292	c.505C>T	c.(505-507)Cgg>Tgg	p.R169W	RSPO1_ENST00000373059.1_Missense_Mutation_p.R142W|RSPO1_ENST00000401068.1_Missense_Mutation_p.R169W|RSPO1_ENST00000401069.1_Missense_Mutation_p.R169W|RSPO1_ENST00000401070.1_Intron|RSPO1_ENST00000401071.2_Intron	NM_001038633.3	NP_001033722.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	169	TSP type-1.				positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GAGCCCCTCCGGAAACCACAG	0.627000													8	117					0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	12957634	12957634	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr8:12957634T>A	ENST00000276297.4	-	9	2621	c.2212A>T	c.(2212-2214)Acg>Tcg	p.T738S	DLC1_ENST00000520226.1_Missense_Mutation_p.T227S|DLC1_ENST00000358919.2_Missense_Mutation_p.T301S|DLC1_ENST00000512044.2_Missense_Mutation_p.T335S	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	738					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CTGGTCTGCGTGGAGTTGGAA	0.617000													25	81					0	0	1	0	0
ABCG1	9619	broad.mit.edu	37	21	43704774	43704774	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr21:43704774T>C	ENST00000398437.1	+	8	1425	c.1277T>C	c.(1276-1278)cTc>cCc	p.L426P	ABCG1_ENST00000340588.4_Missense_Mutation_p.L388P|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398457.2_Missense_Mutation_p.L282P|ABCG1_ENST00000361802.2_Missense_Mutation_p.L280P|ABCG1_ENST00000347800.2_Missense_Mutation_p.L277P|ABCG1_ENST00000343687.3_Missense_Mutation_p.L291P|ABCG1_ENST00000398449.3_Missense_Mutation_p.L280P			P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	280	ABC transmembrane type-2.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	AGCGCCAAACTCTTCGAGCTG	0.627000													15	157					0	0	1	0	0
TMEM150B	284417	broad.mit.edu	37	19	55824329	55824329	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:55824329G>A	ENST00000326652.4	-	8	782	c.600C>T	c.(598-600)gcC>gcT	p.A200A	TMEM150B_ENST00000438693.1_Silent_p.A200A	NM_001282011.1	NP_001268940.1	A6NC51	T150B_HUMAN	transmembrane protein 150B	200						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3						AGAAGTCAACGGCTAAGAGAC	0.682000													3	34					0	0	1	0	0
ESPNP	284729	broad.mit.edu	37	1	17029222	17029222	+	RNA	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:17029222C>G	ENST00000492551.1	-	0	1143					NR_026567.1																						TCTGTCTCCACGTGGCGGAGT	0.627000													8	206					0	0	1	0	0
ACTN3	89	broad.mit.edu	37	11	66325335	66325335	+	RNA	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr11:66325335C>G	ENST00000502692.1	+	0	1308				ACTN3_ENST00000513398.1_RNA	NM_001258371.1	NP_001245300.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						CTTCAACACACTGCAGACCAA	0.587000													5	102					0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19473804	19473804	+	Missense_Mutation	SNP	G	G	A	rs147821413		TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr5:19473804G>A	ENST00000507958.1	-	15	2894	c.1904C>T	c.(1903-1905)aCc>aTc	p.T635I	CDH18_ENST00000506372.1_3'UTR|CDH18_ENST00000510297.1_5'UTR|CDH18_ENST00000274170.4_Missense_Mutation_p.T635I|CDH18_ENST00000502796.1_3'UTR|CDH18_ENST00000382275.1_Missense_Mutation_p.T635I			Q13634	CAD18_HUMAN	cadherin 18, type 2	635					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GCGCCTCAGGGTGATAAAAAG	0.423000													30	301					0	0	1	0	0
AGAP6	414189	broad.mit.edu	37	10	51749116	51749116	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr10:51749116A>G	ENST00000412531.3	+	2	344	c.272A>G	c.(271-273)cAg>cGg	p.Q91R	AGAP6_ENST00000374056.4_Intron	NM_001077665.2	NP_001071133.2	C9IYN2	C9IYN2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	91					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						ACAATATTCCAGAGGAACTCT	0.353000													5	53					0	0	1	0	0
DAP3	7818	broad.mit.edu	37	1	155698905	155698905	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:155698905G>A	ENST00000368336.5	+	8	800	c.676G>A	c.(676-678)Gtt>Att	p.V226I	DAP3_ENST00000343043.3_Missense_Mutation_p.V226I|MSTO1_ENST00000452804.2_Intron|MSTO1_ENST00000538143.1_Intron|DAP3_ENST00000421487.2_Missense_Mutation_p.V192I|DAP3_ENST00000471642.2_Missense_Mutation_p.V185I|DAP3_ENST00000535183.1_Missense_Mutation_p.V185I	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3	226					induction of apoptosis by extracellular signals	mitochondrial ribosome|nucleolus|small ribosomal subunit	protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					GGGAGAAGTGGTTGAACAGGT	0.398000													10	152					0	0	1	0	0
ZNF555	148254	broad.mit.edu	37	19	2852510	2852510	+	Silent	SNP	A	A	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:2852510A>G	ENST00000334241.4	+	4	585	c.447A>G	c.(445-447)ggA>ggG	p.G149G	AC006130.3_ENST00000589365.1_RNA|ZNF555_ENST00000591539.1_Silent_p.G148G	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	149					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)		ACACGTACGGAAAAGTCTTCA	0.458000													11	120					0	0	1	0	0
GPS2	2874	broad.mit.edu	37	17	7222372	7222372	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:7222372G>C	ENST00000575474.1	-	1	121	c.122C>G	c.(121-123)tCa>tGa	p.S41*	NEURL4_ENST00000399464.2_Silent_p.L1227L|NEURL4_ENST00000315614.7_Silent_p.L1225L|NEURL4_ENST00000570460.1_Silent_p.L1203L																							TACTCACCTTGAGACCGTTGT	0.627000													7	64					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141130656	141130656	+	Silent	SNP	A	A	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:141130656A>C	ENST00000389484.3	-	69	11660	c.10689T>G	c.(10687-10689)ggT>ggG	p.G3563G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3563	LDL-receptor class A 27.				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)		GTATACACTGACCATTGGAAC	0.353000										TSP Lung(27;0.18)			7	98					0	0	1	0	0
EIF2AK1	27102	broad.mit.edu	37	7	6084235	6084235	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr7:6084235G>A	ENST00000199389.6	-	7	834	c.688C>T	c.(688-690)Cac>Tac	p.H230Y	EIF2AK1_ENST00000495565.1_5'UTR|EIF2AK1_ENST00000536084.1_Missense_Mutation_p.H106Y	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	230	Protein kinase.				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		CACGCGGTGTGATAGCCAACA	0.473000													5	53					0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35579728	35579728	+	Splice_Site	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr8:35579728G>T	ENST00000287272.2	+	8	970	c.950G>T	c.(949-951)aGc>aTc	p.S317I	UNC5D_ENST00000420357.1_Splice_Site_p.G306V|UNC5D_ENST00000404895.2_Splice_Site_p.S373I|UNC5D_ENST00000453357.2_Splice_Site_p.S368I|UNC5D_ENST00000416672.1_Splice_Site_p.G378V			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	373	TSP type-1 2.				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)		TGTCTTTCAGGCATTGAGAAT	0.493000													8	182					1.06961e-07	1.13265e-07	1	1	0
FBN2	2201	broad.mit.edu	37	5	127800489	127800489	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr5:127800489C>G	ENST00000508053.1	-	12	1728	c.754G>C	c.(754-756)Gag>Cag	p.E252Q	FBN2_ENST00000262464.4_Missense_Mutation_p.E252Q|FBN2_ENST00000508989.1_Missense_Mutation_p.E219Q			P35556	FBN2_HUMAN	fibrillin 2	252	TB 1.				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)		GGACACATCTCACAGGGATGG	0.607000													34	121					0	0	1	0	0
CCDC87	55231	broad.mit.edu	37	11	66359149	66359149	+	Silent	SNP	T	T	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr11:66359149T>A	ENST00000333861.3	-	1	1405	c.1338A>T	c.(1336-1338)gtA>gtT	p.V446V		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	446										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CAGAGACCCGTACGGCAGCCG	0.532000													16	265					0	0	1	0	0
NT5C3B	115024	broad.mit.edu	37	17	39991455	39991455	+	Splice_Site	SNP	T	T	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:39991455T>A	ENST00000269534.8	-	3	258	c.157A>T	c.(157-159)Aat>Tat	p.N53Y	NT5C3B_ENST00000435506.2_Splice_Site_p.N61Y|NT5C3B_ENST00000521789.1_Splice_Site_p.N28Y	NM_052935.4	NP_443167.4			5'-nucleotidase, cytosolic IIIB																		TGTGACTTACTGTAAGAAGAA	0.388000													49	72					0	0	1	0	0
NAIP	4671	broad.mit.edu	37	5	70308477	70308477	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr5:70308477G>A	ENST00000517649.1	-	4	556	c.266C>T	c.(265-267)aCt>aTt	p.T89I	NAIP_ENST00000194097.4_Missense_Mutation_p.T89I|NAIP_ENST00000523981.1_Intron|NAIP_ENST00000503719.2_Intron|NAIP_ENST00000508426.2_Missense_Mutation_p.T89I	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein	89					anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		TTTTACCCCAGTGAAGTAAAA	0.493000													15	147					0	0	1	0	0
FAM110C	642273	broad.mit.edu	37	2	45650	45650	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:45650G>A	ENST00000327669.4	-	1	735	c.736C>T	c.(736-738)Ctc>Ttc	p.L246F		NM_001077710.2	NP_001071178.2	Q1W6H9	F110C_HUMAN	family with sequence similarity 110, member C	246						microtubule|microtubule organizing center|spindle pole				central_nervous_system(1)|kidney(1)|lung(2)	4	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00221)		all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232)		CGCACCTTGAGGGTCACACAG	0.687000													3	31					0	0	1	0	0
CCDC148	130940	broad.mit.edu	37	2	159035486	159035486	+	Silent	SNP	A	A	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:159035486A>G	ENST00000283233.5	-	12	1706	c.1393T>C	c.(1393-1395)Ttg>Ctg	p.L465L	CCDC148-AS1_ENST00000412781.2_RNA|CCDC148_ENST00000409187.1_Silent_p.L474L	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	465										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						CGCCTTTCCAATAATTCTTGT	0.403000													25	39					0	0	1	0	0
CORO1C	23603	broad.mit.edu	37	12	109095064	109095064	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr12:109095064G>A	ENST00000261401.3	-	2	203	c.31C>T	c.(31-33)Cgg>Tgg	p.R11W	CORO1C_ENST00000420959.2_Missense_Mutation_p.R64W|CORO1C_ENST00000549772.1_Missense_Mutation_p.R17W|CORO1C_ENST00000549384.1_Intron|CORO1C_ENST00000541050.1_Missense_Mutation_p.R11W	NM_001105237.2|NM_001276471.1|NM_014325.2	NP_001098707.1|NP_001263400.1|NP_055140.1	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C	11					actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						AATACATGCCGAAACTTGCTC	0.443000													10	165					0	0	1	0	0
SPATA5	166378	broad.mit.edu	37	4	123855676	123855676	+	Silent	SNP	A	A	G	rs141742510	by1000genomes	TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr4:123855676A>G	ENST00000274008.4	+	5	999	c.930A>G	c.(928-930)ctA>ctG	p.L310L	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5						cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						AGAGACTGCTAAAGTTCAGCA	0.348000													14	64					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34080596	34080596	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr15:34080596C>T	ENST00000389232.4	+	67	9837	c.9767C>T	c.(9766-9768)gCg>gTg	p.A3256V	RYR3_ENST00000415757.3_Missense_Mutation_p.A3256V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3256					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GACGAGTTCGCGGTCCTCTGC	0.567000													15	86					0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84581959	84581959	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr15:84581959G>T	ENST00000286744.5	+	16	2040	c.1816G>T	c.(1816-1818)Gag>Tag	p.E606*	ADAMTSL3_ENST00000567476.1_Nonsense_Mutation_p.E606*	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	606	TSP type-1 4.					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)			TGAGCTGCCCGAGGAAGAGTG	0.637000													18	66					9.16793e-09	9.87725e-09	1	1	0
PNN	5411	broad.mit.edu	37	14	39646875	39646875	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr14:39646875G>A	ENST00000216832.4	+	5	473	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K	PNN_ENST00000553331.1_Intron|PNN_ENST00000556530.1_3'UTR	NM_002687.3	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	136	Necessary for interaction with RNPS1.|Necessary for mediating alternative 5' splicing.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		AAATATGGATGAAAAGGGAAA	0.403000													57	134					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47858159	47858159	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr21:47858159C>T	ENST00000359568.5	+	41	9289	c.9182C>T	c.(9181-9183)aCg>aTg	p.T3061M	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	3061	Interaction with NEK2.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GCGCTCAGCACGGTGACCCAG	0.512000													8	104					0	0	1	0	0
CLHC1	130162	broad.mit.edu	37	2	55407749	55407749	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:55407749G>T	ENST00000401408.1	-	11	1626	c.1281C>A	c.(1279-1281)taC>taA	p.Y427*	CLHC1_ENST00000407122.1_Nonsense_Mutation_p.Y427*|CLHC1_ENST00000494539.1_Intron|CLHC1_ENST00000406076.1_Nonsense_Mutation_p.Y305*|CLHC1_ENST00000406437.2_5'UTR	NM_152385.2	NP_689598.2			clathrin heavy chain linker domain containing 1																		CACATTCACTGTAGACAATCT	0.448000													49	76					7.88023e-25	8.99444e-25	1	1	0
KCTD3	51133	broad.mit.edu	37	1	215792292	215792292	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:215792292G>A	ENST00000259154.4	+	16	1921	c.1627G>A	c.(1627-1629)Gga>Aga	p.G543R	KCTD3_ENST00000495537.1_3'UTR	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	543						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		GGAATGTGAGGGATCCAGTAG	0.453000													8	107					0	0	1	0	0
PSG7	5676	broad.mit.edu	37	19	43441225	43441225	+	RNA	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:43441225C>A	ENST00000406070.2	-	0	100				PSG7_ENST00000471557.1_RNA|PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				GAGAGGGGCCCCATGGTCTCT	0.572000													34	161					2.38352e-08	2.54334e-08	1	1	0
NGFR	4804	broad.mit.edu	37	17	47590332	47590332	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:47590332G>C	ENST00000172229.3	+	6	1370	c.1245G>C	c.(1243-1245)gaG>gaC	p.E415D	RP5-1029K10.2_ENST00000514506.1_RNA|NGFR_ENST00000504201.1_Missense_Mutation_p.E321D	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor	415	Death.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					ACCTCGTGGAGAGTCTGTGCA	0.706000													10	14					0	0	1	0	0
OR4C46	119749	broad.mit.edu	37	11	51515813	51515813	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr11:51515813G>C	ENST00000328188.1	+	1	532	c.532G>C	c.(532-534)Gat>Cat	p.D178H		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D178N(1)		endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						CTTTATGTGTGATCTGAACCC	0.453000													12	192					0	0	1	0	0
KRTAP5-5	439915	broad.mit.edu	37	11	1651190	1651190	+	Silent	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr11:1651190C>T	ENST00000399676.2	+	1	158	c.120C>T	c.(118-120)tcC>tcT	p.S40S		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	40						keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		gctgtggctccggctgtggag	0.716000													4	33					0	0	1	0	0
SNORD3A	780851	broad.mit.edu	37	17	19091383	19091383	+	RNA	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:19091383G>A	ENST00000365494.1	+	0	55																											aagtttctctgaacgtgtaga	0.507000													36	447					0	0	1	0	0
LUZP1	7798	broad.mit.edu	37	1	23420139	23420139	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:23420139C>G	ENST00000302291.4	-	4	1417	c.616G>C	c.(616-618)Gaa>Caa	p.E206Q	LUZP1_ENST00000374623.3_Missense_Mutation_p.E206Q|LUZP1_ENST00000418342.1_Missense_Mutation_p.E206Q|LUZP1_ENST00000314174.5_Missense_Mutation_p.E206Q			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	206						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		TTCTCATTTTCTTTCTCCTTT	0.328000													20	29					0	0	1	0	0
ADRB1	153	broad.mit.edu	37	10	115804383	115804383	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr10:115804383C>A	ENST00000369295.2	+	1	578	c.492C>A	c.(490-492)ttC>ttA	p.F164L		NM_000684.2	NP_000675.1	P08588	ADRB1_HUMAN	adrenoceptor beta 1	164					positive regulation of cAMP biosynthetic process	integral to plasma membrane	alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity			large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)	6		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246)	CCTCGCCCTTCCGCTACCAGA	0.677000													70	89					1.08321e-29	1.25436e-29	1	1	0
HOMER1	9456	broad.mit.edu	37	5	78672000	78672000	+	Silent	SNP	T	T	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr5:78672000T>C	ENST00000334082.6	-	9	2339	c.897A>G	c.(895-897)aaA>aaG	p.K299K	HOMER1_ENST00000508576.1_3'UTR|HOMER1_ENST00000282260.6_Silent_p.K169K|HOMER1_ENST00000535690.1_Silent_p.K125K	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN	homer homolog 1 (Drosophila)	299					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		CCTCCAGGTCTTTGTTCCGAA	0.358000													44	58					0	0	1	0	0
ETAA1	54465	broad.mit.edu	37	2	67630594	67630594	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:67630594G>C	ENST00000272342.5	+	5	910	c.780G>C	c.(778-780)aaG>aaC	p.K260N	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	260						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						GAAACACCAAGATATCTGTGG	0.313000													15	87					0	0	1	0	0
DCDC2	51473	broad.mit.edu	37	6	24205258	24205258	+	Missense_Mutation	SNP	T	T	A	rs150003705		TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr6:24205258T>A	ENST00000378454.3	-	8	1296	c.995A>T	c.(994-996)gAt>gTt	p.D332V	DCDC2_ENST00000378450.3_Missense_Mutation_p.D85V	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	332					cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				AACCTGAGTATCTTCATCTTC	0.403000													25	387					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136575163	136575163	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:136575163C>G	ENST00000264162.2	-	6	1465	c.1455G>C	c.(1453-1455)caG>caC	p.Q485H		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	485	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TGCCCGCATCCTGTAGCCTGT	0.617000													9	85					0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	994963	994963	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr12:994963G>A	ENST00000537687.1	+	19	6416	c.5773G>A	c.(5773-5775)Gaa>Aaa	p.E1925K	WNK1_ENST00000340908.4_Missense_Mutation_p.E1258K|WNK1_ENST00000535572.1_Missense_Mutation_p.E1418K|WNK1_ENST00000315939.6_Missense_Mutation_p.E1665K|WNK1_ENST00000530271.2_Missense_Mutation_p.E2163K	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1665					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TCTGTTCAGTGAACACAGCTC	0.478000													57	53					0	0	1	0	0
SLC17A2	10246	broad.mit.edu	37	6	25921506	25921506	+	Silent	SNP	A	A	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr6:25921506A>T	ENST00000377850.3	-	4	899	c.375T>A	c.(373-375)ggT>ggA	p.G125G	SLC17A2_ENST00000265425.3_Silent_p.G125G|SLC17A2_ENST00000360488.3_Silent_p.G125G			O00624	NPT3_HUMAN	solute carrier family 17, member 2	125					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						AGATCAGCAAACCAGCACCAA	0.468000													19	129					0	0	1	0	0
C1orf54	79630	broad.mit.edu	37	1	150246527	150246527	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:150246527T>A	ENST00000369102.1	+	4	854	c.84T>A	c.(82-84)gaT>gaA	p.D28E	C1orf54_ENST00000369098.3_Missense_Mutation_p.D28E|C1orf54_ENST00000369099.3_Missense_Mutation_p.D28E			Q8WWF1	CA054_HUMAN	chromosome 1 open reading frame 54	28						extracellular region				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGGGAGAGGATGAATATTATC	0.448000													30	325					0	0	1	0	0
PPP1R18	170954	broad.mit.edu	37	6	30652748	30652748	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr6:30652748C>G	ENST00000274853.3	-	1	2924	c.1048G>C	c.(1048-1050)Gag>Cag	p.E350Q	PPP1R18_ENST00000488324.1_Intron|PPP1R18_ENST00000399199.3_Missense_Mutation_p.E350Q	NM_133471.3	NP_597728.1	Q6NYC8	PHTNS_HUMAN	protein phosphatase 1, regulatory subunit 18	350						cytoplasm|cytoskeleton	actin binding										GTTTGAGCCTCTATGTCCCTG	0.577000													16	295					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49431524	49431524	+	Silent	SNP	T	T	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr12:49431524T>C	ENST00000301067.7	-	34	9614	c.9615A>G	c.(9613-9615)ggA>ggG	p.G3205G		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GGGAGGATCCTCCTGGGCCAC	0.597000													4	21					0	0	1	0	0
PAX6	5080	broad.mit.edu	37	11	31824258	31824258	+	Silent	SNP	A	A	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr11:31824258A>T	ENST00000419022.1	-	5	603	c.135T>A	c.(133-135)atT>atA	p.I45I	PAX6_ENST00000379111.2_Silent_p.I45I|PAX6_ENST00000379123.5_Silent_p.I45I|PAX6_ENST00000379132.3_Silent_p.I45I|PAX6_ENST00000379129.2_Silent_p.I45I|PAX6_ENST00000533156.1_5'UTR|PAX6_ENST00000241001.8_Silent_p.I45I|PAX6_ENST00000379107.2_Silent_p.I45I|PAX6_ENST00000379115.4_Silent_p.I45I	NM_001127612.1|NM_001258462.1|NM_001258463.1	NP_001121084.1|NP_001245391.1|NP_001245392.1	P26367	PAX6_HUMAN	paired box 6	45	Paired.				blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					TCACCTGCAGAATTCGGGAAA	0.617000									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation				16	8					0	0	1	0	0
DLGAP3	58512	broad.mit.edu	37	1	35365869	35365869	+	Silent	SNP	C	C	T	rs139408471		TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:35365869C>T	ENST00000373347.1	-	4	1381	c.1113G>A	c.(1111-1113)ccG>ccA	p.P371P	DLGAP3_ENST00000235180.4_Silent_p.P371P			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	371					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane		p.P371P(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				AGTCATCTTGCGGCACCTGCA	0.612000													18	187					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61622358	61622358	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:61622358G>A	ENST00000398571.2	-	4	639	c.563C>T	c.(562-564)aCt>aTt	p.T188I		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	188					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			ACTTTCTTGAGTTGATATATC	0.229000													10	11					0	0	1	0	0
KCND1	3750	broad.mit.edu	37	X	48826378	48826378	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chrX:48826378C>A	ENST00000218176.3	-	1	1598	c.301G>T	c.(301-303)Ggg>Tgg	p.G101W		NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 1	101						voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24						TGCAGCCGCCCCGTTCGGTAG	0.582000													8	32					0.000274275	0.000283435	1	1	0
PCSK4	54760	broad.mit.edu	37	19	1482190	1482190	+	Silent	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:1482190G>T	ENST00000300954.5	-	15	1897	c.1836C>A	c.(1834-1836)gcC>gcA	p.A612A		NM_017573.3	NP_060043.2	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	612					proteolysis	integral to membrane	serine-type endopeptidase activity			cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		CCAGGATGTAGGCGGGGCCGT	0.716000													2	3					6.4e-05	6.65221e-05	1	1	0
LEPRE1	64175	broad.mit.edu	37	1	43224586	43224586	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:43224586C>G	ENST00000236040.4	-	4	917	c.877G>C	c.(877-879)Gag>Cag	p.E293Q	LEPRE1_ENST00000296388.5_Missense_Mutation_p.E293Q|LEPRE1_ENST00000397054.3_Missense_Mutation_p.E293Q	NM_001243246.1	NP_001230175.1	Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	293					negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	AAGGGCTTCTCTCGACTTGGG	0.443000													51	63					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65272618	65272618	+	RNA	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr11:65272618G>T	ENST00000534336.1	+	0	7386					NR_002819.2																						GGGGGTGGAGGGGTGAGGTGG	0.473000													22	98					7.41877e-09	8.0238e-09	1	1	0
NRXN1	9378	broad.mit.edu	37	2	51254845	51254845	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:51254845G>A	ENST00000404971.1	-	2	1906	c.567C>T	c.(565-567)gtC>gtT	p.V189V	NRXN1_ENST00000405472.3_Silent_p.V189V|NRXN1_ENST00000406316.2_Silent_p.V189V|NRXN1_ENST00000406859.3_Silent_p.V189V|NRXN1_ENST00000405581.1_Silent_p.V189V|NRXN1_ENST00000402717.3_Silent_p.V189V|NRXN1_ENST00000401669.2_Silent_p.V189V	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	189	Laminin G-like 1.				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)			GCGAGGAGTTGACCCTCACGT	0.721000													13	11					0	0	1	0	0
EPB41L4B	54566	broad.mit.edu	37	9	111970252	111970252	+	Silent	SNP	A	A	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr9:111970252A>G	ENST00000374566.3	-	18	2347	c.1830T>C	c.(1828-1830)tgT>tgC	p.C610C		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	610						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCAGAATGTTACACTTCACAT	0.428000													19	119					0	0	1	0	0
DDX46	9879	broad.mit.edu	37	5	134102654	134102654	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr5:134102654C>G	ENST00000452510.2	+	3	412	c.254C>G	c.(253-255)tCt>tGt	p.S85C	DDX46_ENST00000354283.4_Missense_Mutation_p.S85C	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	85	Arg-rich.				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGAAGAAGATCTCGAAGTAGA	0.473000													10	64					0	0	1	0	0
GTF2H3	2967	broad.mit.edu	37	12	124144458	124144458	+	Silent	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr12:124144458C>A	ENST00000543341.2	+	11	832	c.801C>A	c.(799-801)gtC>gtA	p.V267V	GTF2H3_ENST00000228955.7_Silent_p.V226V	NM_001271867.1|NM_001516.3	NP_001258796.1|NP_001507.2	Q13889	TF2H3_HUMAN	general transcription factor IIH, polypeptide 3, 34kDa	267					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	core TFIIH complex|holo TFIIH complex	damaged DNA binding|metal ion binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362)		TTGGTTATGTCTGTTCTGTGT	0.403000								Nucleotide excision repair (NER)					35	62					1.45844e-13	1.62795e-13	1	1	0
WDFY3	23001	broad.mit.edu	37	4	85672677	85672677	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr4:85672677G>C	ENST00000322366.6	-	36	6339	c.5932C>G	c.(5932-5934)Cct>Gct	p.P1978A	WDFY3_ENST00000295888.4_Missense_Mutation_p.P1978A			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1978						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TTGCTGGCAGGAGTGAGACAG	0.388000													14	90					0	0	1	0	0
PIEZO2	63895	broad.mit.edu	37	18	10671628	10671628	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr18:10671628C>T	ENST00000302079.6	-	51	7965	c.7966G>A	c.(7966-7968)Gag>Aag	p.E2656K	PIEZO2_ENST00000538948.1_Missense_Mutation_p.E676K|PIEZO2_ENST00000285141.4_Missense_Mutation_p.E511K|PIEZO2_ENST00000580640.1_Missense_Mutation_p.E2744K|PIEZO2_ENST00000503781.3_Missense_Mutation_p.E2719K			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2719						integral to membrane	ion channel activity										TCTCCTGTCTCTCGAACTAAA	0.378000													28	64					0	0	1	0	0
BTG4	54766	broad.mit.edu	37	11	111369384	111369384	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr11:111369384C>G	ENST00000525791.1	-	2	302	c.118G>C	c.(118-120)Gaa>Caa	p.E40Q	BTG4_ENST00000356018.2_Missense_Mutation_p.E40Q			Q9NY30	BTG4_HUMAN	B-cell translocation gene 4	40					cell cycle arrest|negative regulation of cell proliferation|neuron differentiation					large_intestine(2)|upper_aerodigestive_tract(1)	3		all_cancers(61;3.78e-13)|all_epithelial(67;5.29e-08)|Melanoma(852;3.15e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0204)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;1.22e-06)|BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|all cancers(92;2.18e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0509)		CTGTATGTTTCAAACAAGATC	0.408000													28	10					0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	64017588	64017588	+	Silent	SNP	A	A	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr15:64017588A>C	ENST00000443617.2	-	18	3558	c.3471T>G	c.(3469-3471)ctT>ctG	p.L1157L		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1157					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GGGAGCCCTGAAGCATGCCAC	0.512000													19	110					0	0	1	0	0
RASGRF2	5924	broad.mit.edu	37	5	80409473	80409473	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr5:80409473G>T	ENST00000265080.4	+	15	2271	c.2204G>T	c.(2203-2205)aGa>aTa	p.R735I	CTD-2193P3.2_ENST00000508993.1_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	735	N-terminal Ras-GEF.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		GCTGTGTCCAGAACATCTTCC	0.522000													41	67					1.47197e-15	1.653e-15	1	1	0
PCDHA3	56145	broad.mit.edu	37	5	140180995	140180995	+	Missense_Mutation	SNP	C	C	A	rs138112183		TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr5:140180995C>A	ENST00000522353.2	+	1	213	c.213C>A	c.(211-213)caC>caA	p.H71Q	PCDHA3_ENST00000532566.2_Missense_Mutation_p.H71Q|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAAAAGACACGGGGACCTTC	0.627000													58	346					7.92265e-33	9.25139e-33	1	1	0
ROBO2	6092	broad.mit.edu	37	3	77651383	77651383	+	Silent	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr3:77651383C>A	ENST00000461745.1	+	20	3777	c.2877C>A	c.(2875-2877)ggC>ggA	p.G959G	ROBO2_ENST00000332191.8_Silent_p.G959G|ROBO2_ENST00000487694.3_Silent_p.G975G	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	959					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CAGTTCCAGGCCAAGGGGATA	0.433000													12	69					0.0135373	0.0137346	1	1	0
CYP2C18	1562	broad.mit.edu	37	10	96454775	96454775	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr10:96454775C>T	ENST00000285979.6	+	4	782	c.583C>T	c.(583-585)Ctt>Ttt	p.L195F	CYP2C19_ENST00000464755.1_3'UTR|CYP2C18_ENST00000339022.5_Missense_Mutation_p.L195F	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		TCAGAGGTTTCTTAACTTGAT	0.408000													6	68					0	0	1	0	0
TSEN2	80746	broad.mit.edu	37	3	12571305	12571305	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr3:12571305C>G	ENST00000444864.1	+	9	1490	c.1103C>G	c.(1102-1104)tCt>tGt	p.S368C	TSEN2_ENST00000383797.5_Missense_Mutation_p.S377C|TSEN2_ENST00000284995.6_Missense_Mutation_p.S394C|TSEN2_ENST00000402228.3_Missense_Mutation_p.S394C|TSEN2_ENST00000415684.1_Missense_Mutation_p.S368C|C3orf83_ENST00000567514.1_Intron|TSEN2_ENST00000314571.7_Missense_Mutation_p.S368C|TSEN2_ENST00000454502.2_Missense_Mutation_p.S335C	NM_001145395.1	NP_001138867.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit	394					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity			central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						TTTGAAGGCTCTCTCCGCAGG	0.403000													56	120					0	0	1	0	0
TIE1	7075	broad.mit.edu	37	1	43778138	43778138	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:43778138C>T	ENST00000372476.3	+	12	1872	c.1793C>T	c.(1792-1794)tCa>tTa	p.S598L	TIE1_ENST00000433781.2_Missense_Mutation_p.S243L	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	598	Fibronectin type-III 2.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GAGAACGTCTCATCCCCCCAG	0.706000													5	42					0	0	1	0	0
IGHV4-34	28395	broad.mit.edu	37	14	106829934	106829934	+	RNA	SNP	A	A	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr14:106829934A>T	ENST00000390616.2	-	0	98																											CTGGGATCAGAGGCAGCATCT	0.557000													9	54					0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51900906	51900906	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:51900906G>A	ENST00000268919.4	+	1	668	c.512G>A	c.(511-513)cGa>cAa	p.R171Q		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	171					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CAGGAGATCCGAGCTAGACGC	0.532000													87	209					0	0	1	0	0
ACIN1	22985	broad.mit.edu	37	14	23533347	23533347	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr14:23533347G>T	ENST00000262710.1	-	12	3063	c.2736C>A	c.(2734-2736)gaC>gaA	p.D912E	ACIN1_ENST00000605057.1_Missense_Mutation_p.D854E|ACIN1_ENST00000338631.6_Missense_Mutation_p.D185E|ACIN1_ENST00000457657.1_Missense_Mutation_p.D872E|ACIN1_ENST00000555053.1_Missense_Mutation_p.D899E|ACIN1_ENST00000557515.1_Missense_Mutation_p.D153E|ACIN1_ENST00000397341.3_Missense_Mutation_p.D154E|ACIN1_ENST00000357481.2_Missense_Mutation_p.D154E	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	912					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TCAGCCCCTTGTCATGGGTCC	0.562000													11	170					1.58986e-06	1.67086e-06	1	1	0
CD38	952	broad.mit.edu	37	4	15780060	15780060	+	Missense_Mutation	SNP	C	C	A	rs78988986	byFrequency	TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr4:15780060C>A	ENST00000226279.3	+	1	160	c.23C>A	c.(22-24)cCg>cAg	p.P8Q		NM_001775.2	NP_001766.2	P28907	CD38_HUMAN	CD38 molecule						B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	binding|NAD+ nucleosidase activity|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						GAGTTCAGCCCGGTGTCCGGG	0.647000													43	96					5.20006e-24	5.92318e-24	1	1	0
MUM1	84939	broad.mit.edu	37	19	1370839	1370839	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:1370839A>G	ENST00000311401.5	+	12	1930	c.1544A>G	c.(1543-1545)aAg>aGg	p.K515R	MUM1_ENST00000591806.1_Missense_Mutation_p.K584R|MUM1_ENST00000415183.3_Missense_Mutation_p.K584R|MUM1_ENST00000344663.3_Missense_Mutation_p.K584R			Q2TAK8	MUM1_HUMAN	melanoma associated antigen (mutated) 1	583					chromatin organization|DNA repair	nucleus	nucleosome binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGAAGGCCAAGGGCGCGGAG	0.662000													7	7					0	0	1	0	0
ZNF682	91120	broad.mit.edu	37	19	20135146	20135146	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:20135146G>C	ENST00000397165.2	-	2	203	c.43C>G	c.(43-45)Ctg>Gtg	p.L15V	ZNF682_ENST00000358523.5_5'UTR|ZNF682_ENST00000596019.1_Missense_Mutation_p.L15V|ZNF682_ENST00000597972.1_Missense_Mutation_p.L21V|ZNF682_ENST00000593468.1_Missense_Mutation_p.L15V|ZNF682_ENST00000397162.1_5'UTR|ZNF682_ENST00000595736.1_Intron	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682	15	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						CACTCCTCCAGAGAGAATTCT	0.433000													25	58					0	0	1	0	0
ADRM1	11047	broad.mit.edu	37	20	60882815	60882815	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr20:60882815C>T	ENST00000253003.2	+	7	833	c.787C>T	c.(787-789)Cag>Tag	p.Q263*		NM_007002.2|NM_175573.1	NP_008933.2|NP_783163.1	Q16186	ADRM1_HUMAN	adhesion regulating molecule 1	263					proteasome assembly|transcription elongation from RNA polymerase II promoter	cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex	endopeptidase activator activity|protease binding|proteasome binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			CCAGCCCATCCAGCTGAGCGA	0.677000													7	41					0	0	1	0	0
NENF	29937	broad.mit.edu	37	1	212617721	212617721	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:212617721G>A	ENST00000366988.3	+	3	336	c.279G>A	c.(277-279)ggG>ggA	p.G93G	NENF_ENST00000473900.1_3'UTR	NM_013349.4	NP_037481.1	Q9UMX5	NENF_HUMAN	neudesin neurotrophic factor	93	Cytochrome b5 heme-binding.					extracellular space	heme binding			endometrium(1)|kidney(1)|large_intestine(2)	4				all cancers(67;0.00967)|OV - Ovarian serous cystadenocarcinoma(81;0.0108)|GBM - Glioblastoma multiforme(131;0.0325)|Epithelial(68;0.132)		CCTTGACGGGGAAGGACTCCA	0.512000													12	93					0	0	1	0	0
EMILIN2	84034	broad.mit.edu	37	18	2891874	2891874	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr18:2891874G>A	ENST00000254528.3	+	4	1908	c.1749G>A	c.(1747-1749)ttG>ttA	p.L583L		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	583					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		TGCACCTTTTGAAATCTCTCA	0.458000													16	174					0	0	1	0	0
KNTC1	9735	broad.mit.edu	37	12	123078909	123078909	+	Silent	SNP	A	A	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr12:123078909A>C	ENST00000333479.7	+	43	4509	c.4332A>C	c.(4330-4332)acA>acC	p.T1444T	KNTC1_ENST00000450485.2_Intron|KNTC1_ENST00000545065.1_3'UTR	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1444					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		ATATGGACACAAGCCTCATTT	0.323000													24	42					0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19337300	19337300	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:19337300C>T	ENST00000252575.6	+	7	1177	c.1078C>T	c.(1078-1080)Cac>Tac	p.H360Y		NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan						axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CACAGCTCATCACCCCACGTC	0.562000													13	110					0	0	1	0	0
KLHL8	57563	broad.mit.edu	37	4	88097923	88097923	+	Silent	SNP	T	T	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr4:88097923T>G	ENST00000273963.5	-	6	1535	c.1194A>C	c.(1192-1194)tcA>tcC	p.S398S	KLHL8_ENST00000498875.2_Silent_p.S322S|KLHL8_ENST00000425278.2_Silent_p.S215S|KLHL8_ENST00000545252.1_Silent_p.S47S|KLHL8_ENST00000512111.1_Silent_p.S398S	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN	kelch-like family member 8	398										breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		TTGTGTTCATTGATGCCTTCA	0.338000													22	65					0	0	1	0	0
IRAK3	11213	broad.mit.edu	37	12	66639035	66639035	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr12:66639035T>C	ENST00000261233.4	+	11	1728	c.1307T>C	c.(1306-1308)aTg>aCg	p.M436T	IRAK3_ENST00000457197.2_Missense_Mutation_p.M375T	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	436	Protein kinase.				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		AGACCATCAATGGATGAAGTG	0.418000													77	372					0	0	1	0	0
VNN1	8876	broad.mit.edu	37	6	133014264	133014264	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr6:133014264A>G	ENST00000367928.4	-	4	738	c.725T>C	c.(724-726)tTg>tCg	p.L242S		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	242	CN hydrolase.				acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		CAAATGTGGCAAAACATTCAT	0.428000													50	34					0	0	1	0	0
PCDHA12	56137	broad.mit.edu	37	5	140256931	140256931	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr5:140256931G>T	ENST00000398631.2	+	1	1874	c.1874G>T	c.(1873-1875)gGg>gTg	p.G625V	PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCCACGTGGGGCTGTACACT	0.677000													53	81					6.4308e-24	7.31012e-24	1	1	0
ZNF629	23361	broad.mit.edu	37	16	30795792	30795792	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr16:30795792C>G	ENST00000262525.4	-	2	219	c.12G>C	c.(10-12)gaG>gaC	p.E4D		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	4					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			ACAGCGCAGTCTCGGGCTCCA	0.632000													5	6					0	0	1	0	0
ACAD11	84129	broad.mit.edu	37	3	132337486	132337486	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr3:132337486T>C	ENST00000264990.6	-	11	2377	c.1406A>G	c.(1405-1407)cAa>cGa	p.Q469R	ACAD11_ENST00000355458.3_Missense_Mutation_p.Q469R|ACAD11_ENST00000545291.1_Intron|ACAD11_ENST00000481970.2_Missense_Mutation_p.Q469R	NM_032169.4	NP_115545			acyl-CoA dehydrogenase family, member 11											breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						ACCTGGTGCTTGGCAGTTAAA	0.338000													15	75					0	0	1	0	0
DPYSL2	1808	broad.mit.edu	37	8	26484809	26484809	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr8:26484809G>T	ENST00000311151.5	+	6	1031	c.619G>T	c.(619-621)Gag>Tag	p.E207*	DPYSL2_ENST00000521913.1_Nonsense_Mutation_p.E171*|DPYSL2_ENST00000523027.1_Nonsense_Mutation_p.E171*|DPYSL2_ENST00000521983.1_3'UTR	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	207					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		CATCATTGCAGAGGTACAGGG	0.498000													5	85					0.014758	0.0149187	1	1	0
SPTAN1	6709	broad.mit.edu	37	9	131362362	131362362	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr9:131362362G>A	ENST00000372739.3	+	27	3657	c.3547G>A	c.(3547-3549)Gaa>Aaa	p.E1183K	SPTAN1_ENST00000358161.5_Missense_Mutation_p.E1183K|SPTAN1_ENST00000372731.4_Missense_Mutation_p.E1183K	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1183					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						TGAATAGGATGAAACTGATTC	0.438000													34	20					0	0	1	0	0
NAB2	4665	broad.mit.edu	37	12	57485446	57485446	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr12:57485446T>C	ENST00000300131.3	+	2	1000	c.622T>C	c.(622-624)Ttc>Ctc	p.F208L	NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000357680.4_Missense_Mutation_p.F208L|NAB2_ENST00000342556.6_Missense_Mutation_p.F208L	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	208					cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity	p.F208L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CTCGCCCCCCTTCTCCCCCCC	0.716000													7	51					0	0	1	0	0
B4GALNT4	338707	broad.mit.edu	37	11	373764	373764	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr11:373764G>A	ENST00000329962.6	+	8	719	c.719G>A	c.(718-720)cGg>cAg	p.R240Q		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	240						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ATGGCCTCCCGGAGGTACTAC	0.642000													47	37					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136575162	136575162	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:136575162C>T	ENST00000264162.2	-	6	1466	c.1456G>A	c.(1456-1458)Gat>Aat	p.D486N		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	486	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		ATGCCCGCATCCTGTAGCCTG	0.617000													9	86					0	0	1	0	0
NPRL3	8131	broad.mit.edu	37	16	162645	162645	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr16:162645C>T	ENST00000399953.3	-	5	925	c.523G>A	c.(523-525)Gat>Aat	p.D175N	NPRL3_ENST00000405960.3_5'UTR|NPRL3_ENST00000399951.3_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)	175							protein binding			endometrium(1)|large_intestine(3)|ovary(2)	6						GACACCTCATCCTGGAGCGCC	0.657000													7	19					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132504716	132504716	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr12:132504716G>A	ENST00000333577.4	+	23	4617	c.4508G>A	c.(4507-4509)cGa>cAa	p.R1503Q	EP400_ENST00000389561.2_Missense_Mutation_p.R1467Q|EP400_ENST00000332482.4_Missense_Mutation_p.R1430Q|EP400_ENST00000389562.2_Missense_Mutation_p.R1466Q|EP400_ENST00000330386.6_Missense_Mutation_p.R1467Q			Q96L91	EP400_HUMAN	E1A binding protein p400	1503					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GGCCCGCTTCGAGGACGGCCG	0.652000													27	94					0	0	1	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160271403	160271403	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr4:160271403C>G	ENST00000264431.4	+	20	3763	c.3344C>G	c.(3343-3345)tCt>tGt	p.S1115C		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1115	Ser-rich.				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TCGCAGCTTTCTTCTCCTCCT	0.333000													10	29					0	0	1	0	0
DPPA2	151871	broad.mit.edu	37	3	109027098	109027098	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr3:109027098A>C	ENST00000478945.1	-	6	685	c.439T>G	c.(439-441)Tcg>Gcg	p.S147A		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	147						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CGTTTCCTCGAACATCGCTGT	0.433000													13	116					0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55872777	55872777	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr11:55872777C>A	ENST00000313503.1	+	1	259	c.259C>A	c.(259-261)Ctg>Atg	p.L87M		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					AGCGAACTTACTGACTTCCAA	0.438000										HNSCC(53;0.14)			37	632					1.66425e-11	1.83926e-11	1	1	0
C5orf54	63920	broad.mit.edu	37	5	159822193	159822193	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr5:159822193C>T	ENST00000408953.3	-	2	812	c.305G>A	c.(304-306)tGt>tAt	p.C102Y	C5orf54_ENST00000523213.1_Missense_Mutation_p.C102Y	NM_022090.3	NP_071373.2	Q8IZ13	CE054_HUMAN	chromosome 5 open reading frame 54	102										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						ctccttggcacataaatacgc	0.393000													55	52					0	0	1	0	0
SPAST	6683	broad.mit.edu	37	2	32340842	32340842	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:32340842G>A	ENST00000315285.3	+	6	1067	c.942G>A	c.(940-942)ttG>ttA	p.L314L	SPAST_ENST00000345662.1_Silent_p.L282L	NM_014946.3	NP_055761.2	Q9UBP0	SPAST_HUMAN	spastin	314	Required for interaction with microtubules and microtubule severing.|Sufficient for interaction with microtubules.|Sufficient for microtubule severing.				cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization	endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle	alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					AAAAAGACTTGAAGAATTTTA	0.308000													30	48					0	0	1	0	0
REXO1	57455	broad.mit.edu	37	19	1827792	1827792	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:1827792G>A	ENST00000170168.4	-	2	1090	c.996C>T	c.(994-996)ggC>ggT	p.G332G	REXO1_ENST00000587524.1_5'UTR	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	332						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCGCAGGCCGCCCCCCTCGG	0.731000													8	8					0	0	1	0	0
DAXX	1616	broad.mit.edu	37	6	33289243	33289243	+	Silent	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr6:33289243C>T	ENST00000374542.5	-	3	513	c.309G>A	c.(307-309)gcG>gcA	p.A103A	DAXX_ENST00000477162.1_Intron|DAXX_ENST00000414083.2_Silent_p.A28A|DAXX_ENST00000266000.6_Silent_p.A103A	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	103	Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	p.A103fs*40(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						TGCAGAACTCCGCCGAGGCCA	0.562000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM								10	271					0	0	1	0	0
C1orf127	148345	broad.mit.edu	37	1	11017751	11017751	+	Silent	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:11017751C>T	ENST00000377004.4	-	7	614	c.615G>A	c.(613-615)ctG>ctA	p.L205L	C1orf127_ENST00000377008.4_Silent_p.L56L	NM_001170754.1	NP_001164225.1	B7ZLG7	B7ZLG7_HUMAN	chromosome 1 open reading frame 127	56										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		ACAGTCCCATCAGGCTGGCGT	0.582000													62	83					0	0	1	0	0
NADK	65220	broad.mit.edu	37	1	1688587	1688588	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:1688587_1688588insC	ENST00000344463.4	-	6	958_959	c.737_738insG	c.(736-738)ggtfs	p.G246fs	NADK_ENST00000341426.5_Intron|NADK_ENST00000341991.3_Intron|NADK_ENST00000492768.1_Intron|NADK_ENST00000378625.1_Frame_Shift_Ins_p.G246fs|NADK_ENST00000342348.5_Intron			O95544	NADK_HUMAN	NAD kinase	131					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		CTCCATGTGCACCCCAGGCCCC	0.634													2	4	---	---	---	---					
SPEN	23013	broad.mit.edu	37	1	16260122	16260130	+	In_Frame_Del	DEL	AGCGATCCA	AGCGATCCA	-			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:16260122_16260130delAGCGATCCA	ENST00000375759.3	+	11	7591_7599	c.7387_7395delAGCGATCCA	c.(7387-7395)agcgatccadel	p.SDP2463del		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2463	Interaction with MSX2 (By similarity).|Pro-rich.|RID.				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)		GACCCCACCCAGCGATCCAAGCATCCCCA	0.603													12	117	---	---	---	---					
AC027612.3	0	broad.mit.edu	37	2	91899626	91899626	+	RNA	DEL	A	A	-			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:91899626delA	ENST00000436174.1	-	0	168																											CCAGAGGCTCAAAAAAAAAAA	0.289													14	25	---	---	---	---					
MECOM	2122	broad.mit.edu	37	3	168833343	168833348	+	In_Frame_Del	DEL	GGGGCT	GGGGCT	-			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr3:168833343_168833348delGGGGCT	ENST00000464456.1	-	7	2948_2953	c.1748_1753delAGCCCC	c.(1747-1755)cagcccctg>ctg	p.QP583del	MECOM_ENST00000392736.3_In_Frame_Del_p.QP583del|MECOM_ENST00000468789.1_In_Frame_Del_p.QP583del|MECOM_ENST00000472280.1_In_Frame_Del_p.QP584del|MECOM_ENST00000460814.1_In_Frame_Del_p.QP583del|MECOM_ENST00000494292.1_In_Frame_Del_p.QP771del|MECOM_ENST00000433243.2_In_Frame_Del_p.QP584del|MECOM_ENST00000264674.3_In_Frame_Del_p.QP648del	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CTTAGATCCAGGGGCTGGTCTTGGCT	0.534													15	170	---	---	---	---					
SLC22A4	6583	broad.mit.edu	37	5	131676327	131676327	+	Frame_Shift_Del	DEL	T	T	-	rs72552721		TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr5:131676327delT	ENST00000200652.3	+	9	1688	c.1514delT	c.(1513-1515)cttfs	p.L505fs	AC034220.3_ENST00000437091.1_RNA|AC034220.3_ENST00000417795.1_RNA	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	505					body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity	p.E509fs*1(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	ATCCTCACCCTTTTTTTCCCT	0.418													8	267	---	---	---	---					
PCDHGA7	56108	broad.mit.edu	37	5	140763792	140763792	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr5:140763792delG	ENST00000518325.1	+	1	1326	c.1326delG	c.(1324-1326)gtgfs	p.V442fs	PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCATGCAGGTGGCAGACACCA	0.507													13	116	---	---	---	---					
MDC1	9656	broad.mit.edu	37	6	30671304	30671305	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr6:30671304_30671305insT	ENST00000376406.3	-	11	6219_6220	c.5572_5573insA	c.(5572-5574)actfs	p.T1858fs	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Frame_Shift_Ins_p.T1594fs	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1858	Required for nuclear localization (NLS2).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						TGGTTTTGGAGTCACGACATCC	0.505								Other conserved DNA damage response genes					223	167	---	---	---	---					
CDKN1A	1026	broad.mit.edu	37	6	36651884	36651885	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr6:36651884_36651885insG	ENST00000405375.1	+	2	241_242	c.6_7insG	c.(7-9)gaafs	p.E3fs	CDKN1A_ENST00000373711.2_Frame_Shift_Ins_p.E3fs|CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000244741.5_Frame_Shift_Ins_p.E3fs|CDKN1A_ENST00000448526.2_Frame_Shift_Ins_p.E37fs	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	3					cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						GCGCCATGTCAGAACCGGCTGG	0.629													18	18	---	---	---	---					
GTF2I	2969	broad.mit.edu	37	7	74105441	74105469	+	Splice_Site	DEL	ATTGTAAGCATTGTATTTTTATCTTTTGC	ATTGTAAGCATTGTATTTTTATCTTTTGC	-			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr7:74105441_74105469delATTGTAAGCATTGTATTTTTATCTTTTGC	ENST00000324896.4	+	3	625_627	c.236_238delATTGTAAGCATTGTATTTTTATCTTTTGC	c.(235-240)tattgt>tgt	p.Y79fs	AC083884.8_ENST00000450426.2_RNA|GTF2I_ENST00000443166.1_Splice_Site_p.Y79fs|GTF2I_ENST00000346152.4_Splice_Site_p.Y79fs|GTF2I_ENST00000353920.4_Splice_Site_p.Y79fs|GTF2I_ENST00000416070.1_Splice_Site_p.Y79fs	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	79					negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						TTTGTAAAATATTGTAAGCATTGTATTTTTATCTTTTGCATTTCATTAA	0.284													8	98	---	---	---	---					
TMEM120A	83862	broad.mit.edu	37	7	75617559	75617560	+	RNA	INS	-	-	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr7:75617559_75617560insC	ENST00000493111.2	-	0	563				TMEM120A_ENST00000338761.4_RNA			Q9BXJ8	T120A_HUMAN	transmembrane protein 120A							integral to membrane											CTCAGGGCCCGCCCTGCCCACC	0.634													7	98	---	---	---	---					
PLXNA4	91584	broad.mit.edu	37	7	131825479	131825493	+	In_Frame_Del	DEL	CAGAGAGGCAGGCGT	CAGAGAGGCAGGCGT	-			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr7:131825479_131825493delCAGAGAGGCAGGCGT	ENST00000359827.3	-	30	6265_6279	c.5303_5317delACGCCTGCCTCTCTG	c.(5302-5319)gacgcctgcctctctgtg>gtg	p.DACLS1768del	PLXNA4_ENST00000321063.4_In_Frame_Del_p.DACLS1768del			Q9HCM2	PLXA4_HUMAN	plexin A4	1768						integral to membrane|intracellular|plasma membrane		p.C1770G(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGAGCCACCACAGAGAGGCAGGCGTCTGTGATGCT	0.558													15	195	---	---	---	---					
FNTA	2339	broad.mit.edu	37	8	42911569	42911570	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr8:42911569_42911570insC	ENST00000302279.3	+	1	274_275	c.80_81insC	c.(79-84)cacccafs	p.HP27fs	RP11-598P20.5_ENST00000534420.1_Intron|FNTA_ENST00000342116.4_Frame_Shift_Ins_p.HP27fs|FNTA_ENST00000524546.1_3'UTR	NM_002027.2	NP_002018.1	P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha	27	Pro-rich.				cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity			cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			CCCCAGCCGCACCCACCGCCGC	0.748													5	4	---	---	---	---					
TSC1	7248	broad.mit.edu	37	9	135802666	135802666	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr9:135802666delG	ENST00000298552.3	-	4	353	c.132delC	c.(130-132)accfs	p.T44fs	TSC1_ENST00000545250.1_Frame_Shift_Del_p.T44fs|TSC1_ENST00000475903.1_5'UTR|TSC1_ENST00000403810.1_Frame_Shift_Del_p.T44fs|TSC1_ENST00000440111.2_Frame_Shift_Del_p.T44fs	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	44					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding			NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		AATCCACCAAGGTGTTTACAA	0.448			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				33	13	---	---	---	---					
FAU	2197	broad.mit.edu	37	11	64888248	64888250	+	In_Frame_Del	DEL	TCT	TCT	-	rs1065065		TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr11:64888248_64888250delTCT	ENST00000529639.1	-	5	696_698	c.305_307delAGA	c.(304-309)aagaca>aca	p.K102del	FAU_ENST00000527548.1_In_Frame_Del_p.K102del|FAU_ENST00000525297.1_In_Frame_Del_p.K67del|FAU_ENST00000529259.1_3'UTR|FAU_ENST00000531743.1_In_Frame_Del_p.K102del|FAU_ENST00000279259.3_In_Frame_Del_p.E83del	NM_001997.4	NP_001988.1	P35544	UBIM_HUMAN	Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed	0										NS(3)|kidney(1)|large_intestine(2)	6						GCCCGACCTGTCTTCTTCTTCTT	0.542													7	282	---	---	---	---					
CLIP1	6249	broad.mit.edu	37	12	122812690	122812691	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr12:122812690_122812691insT	ENST00000358808.2	-	16	3173_3174	c.3019_3020insA	c.(3019-3021)agcfs	p.S1007fs	CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.S1018fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.S1007fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.S896fs|CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.S593fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.S972fs	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1018					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CTGGTTGTGGCTTGTTTCCATT	0.505													20	389	---	---	---	---					
OR4N2	390429	broad.mit.edu	37	14	20296055	20296056	+	Frame_Shift_Ins	INS	-	-	T	rs149523724	by1000genomes	TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr14:20296055_20296056insT	ENST00000315947.1	+	1	448_449	c.448_449insT	c.(448-450)cttfs	p.L150fs	OR4N2_ENST00000568211.1_Frame_Shift_Ins_p.L150fs	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	150					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)		GGCTCTGTGGCTTGGGGGTTTT	0.530													57	347	---	---	---	---					
SLC10A1	6554	broad.mit.edu	37	14	70252841	70252841	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr14:70252841delC	ENST00000216540.4	-	2	673	c.540delG	c.(538-540)cggfs	p.R180fs		NM_003049.3	NP_003040.1	Q14973	NTCP_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 1	180					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)	14				all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226)		TGTATTGTGGCCGTTTGGATT	0.438													36	116	---	---	---	---					
RPL23	9349	broad.mit.edu	37	17	37008873	37008892	+	Frame_Shift_Del	DEL	TGGTTTGCCTTTCTTGACTG	TGGTTTGCCTTTCTTGACTG	-			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:37008873_37008892delTGGTTTGCCTTTCTTGACTG	ENST00000479035.2	-	3	323_342	c.191_210delCAGTCAAGAAAGGCAAACCA	c.(190-210)acagtcaagaaaggcaaaccafs	p.TVKKGKP64fs	RPL23_ENST00000394333.1_Frame_Shift_Del_p.TVKKGKP64fs|RPL23_ENST00000577407.1_Frame_Shift_Del_p.TVKKGKP64fs|RPL23_ENST00000245857.5_Frame_Shift_Del_p.TVKKGKP5fs|RPL23_ENST00000394332.1_Frame_Shift_Del_p.TVKKGKP64fs	NM_000978.3	NP_000969.1	P62829	RL23_HUMAN	ribosomal protein L23	64					endocrine pancreas development|ribosomal protein import into nucleus|translational elongation|translational termination|viral transcription	cytosol|ribosome	protein binding|structural constituent of ribosome			endometrium(2)|large_intestine(1)	3						TTCTGAGCTCTGGTTTGCCTTTCTTGACTGTGGCCATCAC	0.482													11	133	---	---	---	---					
NBR1	4077	broad.mit.edu	37	17	41352619	41352619	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:41352619delT	ENST00000422280.1	+	17	2921	c.2462delT	c.(2461-2463)ctgfs	p.L821fs	NBR1_ENST00000589872.1_Frame_Shift_Del_p.L821fs|NBR1_ENST00000389312.4_Frame_Shift_Del_p.L821fs|NBR1_ENST00000341165.6_Frame_Shift_Del_p.L821fs|NBR1_ENST00000590996.1_Frame_Shift_Del_p.L821fs|NBR1_ENST00000542611.1_Frame_Shift_Del_p.L800fs	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	821					macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		CCACCGTCACTGCCCAGGTAC	0.517													41	94	---	---	---	---					
GNA13	10672	broad.mit.edu	37	17	63010685	63010696	+	In_Frame_Del	DEL	ATTGTTTCAAAA	ATTGTTTCAAAA	-			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:63010685_63010696delATTGTTTCAAAA	ENST00000439174.2	-	4	1058_1069	c.813_824delTTTTGAAACAAT	c.(811-825)atttttgaaacaatc>atc	p.271_275IFETI>I	GNA13_ENST00000541118.1_In_Frame_Del_p.176_180IFETI>I	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	271					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						GTTATTGACGATTGTTTCAAAAATGTTCAGAG	0.396													12	205	---	---	---	---					
ZNF574	64763	broad.mit.edu	37	19	42584313	42584319	+	Frame_Shift_Del	DEL	GGGGAGC	GGGGAGC	-			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:42584313_42584319delGGGGAGC	ENST00000600245.1	+	2	2210_2216	c.1555_1561delGGGGAGC	c.(1555-1563)ggggagcggfs	p.GER519fs	ZNF574_ENST00000222339.7_Frame_Shift_Del_p.GER609fs|ZNF574_ENST00000359044.4_Frame_Shift_Del_p.GER519fs			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	519					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				CACACACACAGGGGAGCGGCCCTTCCC	0.609													15	786	---	---	---	---					
KIZ-AS1	101929591	broad.mit.edu	37	20	21186297	21186298	+	RNA	DEL	AA	AA	-	rs113583877		TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr20:21186297_21186298delAA	ENST00000591761.1	-	0	231				RP4-777D9.2_ENST00000443753.1_RNA|RP4-777D9.2_ENST00000433213.2_RNA|PLK1S1_ENST00000457464.1_RNA																							atttttatttaaaaaaaaaaaa	0.421													3	4	---	---	---	---					
SLMO2	51012	broad.mit.edu	37	20	57613514	57613526	+	Splice_Site	DEL	CACTTACAGACTT	CACTTACAGACTT	-			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr20:57613514_57613526delCACTTACAGACTT	ENST00000355937.4	-	2	374_380	c.196_202delAAGTCTGTAAGTG	c.(196-204)aagtctgta>ta	p.KSV66fs	SLMO2_ENST00000371033.5_Splice_Site_p.KSV66fs	NM_016045.2	NP_057129.2	Q9Y3B1	SLMO2_HUMAN	slowmo homolog 2 (Drosophila)	66	PRELI/MSF1.									endometrium(1)|lung(2)|skin(2)	5	all_lung(29;0.00711)		Colorectal(105;0.109)			AATAAAGACACACTTACAGACTTCACAATGGAA	0.437													20	200	---	---	---	---					
AP1B1	162	broad.mit.edu	37	22	29745198	29745206	+	Splice_Site	DEL	CTGGCTCAC	CTGGCTCAC	-			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr22:29745198_29745206delCTGGCTCAC	ENST00000357586.2	-	11	1624		c.e11+1		AP1B1_ENST00000317368.7_Splice_Site|AP1B1_ENST00000415447.1_Splice_Site|AP1B1_ENST00000405198.1_Splice_Site|AP1B1_ENST00000402502.1_Splice_Site|AP1B1_ENST00000432560.2_Splice_Site|AP1B1_ENST00000356015.2_Splice_Site	NM_001127.3	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit						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						GGCCAGCTCGCTGGCTCACCTGTGTGCTC	0.584													12	107	---	---	---	---